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Albinism

Adapted from NOAH

The word ―albinism‖ refers to a group of inherited conditions. People with albinism have little or
no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the
usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of
albinism. Albinism affects people from all races. Most children with albinism are born to parents
who have normal hair and eye color for their ethnic backgrounds. Sometimes people do not
recognize that they have albinism. A common myth is that people with albinism have red eyes.
In fact there are different types of albinism and the amount of pigment in the eyes varies.
Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some
have hazel or brown eyes. However, all forms of albinism are associated with vision problems.

Albinism and Driving

Many people with albinism have low vision and want to drive a car. The vast majority of driving
decisions are based upon vision. This bulletin discusses controversies about the minimum visual
acuity necessary for safe driving, and about driving with bioptic telescopes, to help people with
albinism make decisions about driving. It also addresses ways of learning to drive and seeking a
license for those who cannot pass the standard driver license vision screening test.

The Decision to Drive

It is critical that any low vision driver has a strong sense of responsibility and willingness to
voluntarily exercise good judgment by restricting themselves from driving in situations they
know to be unsafe. It is a fact, regardless of whether it is fair or not, that all low vision drivers
are judged by the safety record of the entire group. It is important for drivers with albinism to
drive in the most responsible way possible so all low vision drivers will not be in jeopardy of
losing their driving privilege.

Driving is not for everyone with albinism, and neither is it for everyone in the general
population. Some people don't have the physical or mental ability, the temperament, the desire,
or the need to drive. If you have albinism, the decision to drive is a very personal one that must
be made collaboratively between you, your eye doctor and your state Department of Motor
Vehicles.

Driving Restrictions

Many persons with albinism have central visual acuity in the range of 20/70 to 20/200 with
standard corrective lenses. The visual acuity requirements or screening standards used in the
United States for driving without restrictions ranges from 20/30 to 20/70, and the average is
20/40. Some states will accept
a visual acuity of 20/100 with corrective lenses for a restricted driver's license with the
recommendation of an eye doctor and demonstration of the ability to operate a motor vehicle
safely.

Restrictions imposed upon the license may limit the driver to a geographic area or particular
routes, and may limit driving to certain hours of the day. The license may require a particular
vehicle using special equipment or devices. The driver license agency may require more frequent
and rigorous testing or special training that is not required of other drivers.

In order to meet the state requirement, some type of magnification device may be necessary,
such as a bioptic telescope or Telecon system (a combination of contact lenses and glasses) to
increase the corrected visual acuity.

The American Optometric Association endorses "individual evaluation of individuals wearing
spectacle-mounted bioptic telescopes for driving." However, the American Association of Motor
Vehicle Administrators passed a resolution in 1983 to ban all bioptic drivers in all states. In
1984, the US
Department of Transportation expressed concern that some state departments of transportation
"discriminate against visually handicapped individuals who wear bioptic lenses." The DOT
position is "that the use of bioptic lenses on a person's eyeglasses should not automatically
disqualify him or her from being licensed to drive, [and] that all driver license applicants,
whether or not they wear bioptic lenses, should be provided the opportunity to take tests of
vision, knowledge and driving skills." Even though the AAMVA resolution appears to be
contrary to the position of the DOT, the use of bioptic telescopes is still not legal in some states.

In an effort to address the question of the minimum acuity necessary to drive safely, studies have
been conducted as early as 30 years ago comparing static visual acuity, which is measured in a
stable environment, versus dynamic visual acuity, which is measured in an interactive
environment that
approximates the driving task. Although dynamic visual acuity tests may predict driver safety
more accurately, most states use static tests because of time and cost factors.

Most states will permit persons with low vision to substitute documentation from an eye doctor
for the standard vision test. The Department of Motor Vehicles will want specific information
about visual function such as:

 corrected and uncorrected visual acuity;
 peripheral visual fields;
 stability of eye condition;
 depth and color perception;
 ability to coordinate hand, neck, and eye movement;
 contrast sensitivity, glare recovery, and luminance.

Low Vision and Driving

Depressed central visual acuity, or low vision, is one of the characteristics of albinism. However,
albinism is a genetic condition that is stable, so the vision does not deteriorate over time. People
with albinism usually have normal color perception and near normal peripheral visual fields. In
addition,
albinism is not usually accompanied by scotomas (blind spots) within the visual field.

Even the normally sighted driver does not resolve details on a continuous basis at the 20/20
acuity level while driving. The driver uses 20/20 acuity only as a response to low resolution
stimuli. Adequate peripheral vision is more important than central acuity, and persons with
tunnel vision are unable to drive safely even if they have 20/20 central acuity.

The person with albinism, and all persons with low vision who drive, must compensate for a
reduced safety margin, which results from a delay in spotting hazards. Studies of visually
impaired drivers, a group that includes persons with albinism, found that these drivers had an
accident rate 1.9 times higher than that of non-disabled drivers. But these same studies found that
visually impaired drivers had an accident rate only half that of other medically disabled driver
groups such as those with orthopedic disabilities, hearing impairments and seizure disorders. It
was also found that visually impaired drivers had fewer citations than non-disabled drivers.

The person with albinism, like all drivers, must remember that driving is a privilege and not a
right. DMV records indicate that the characteristics of drivers who are most likely to be involved
in an accident are those who are impulsive, emotionally unstable, overly aggressive, angry,
inattentive, slow to react, substance abusers, risk takers, inexperienced or new drivers, teenagers
younger than 18, or seniors over age 75.

Driving Skills

The licensing agency will use the same performance standards to evaluate the low vision driver
as it uses to assess driving skills in the general population. These will generally include vehicle
speed control, shifting and braking, depth and spatial perception, steering, use of mirrors,
backing up and parking, knowledge of rules of the road, and courtesy.

Drivers with albinism must also learn to effectively compensate for their low vision and may
benefit from the following tips:

 Use non-visual cues.
 Keep eyes moving and be alert.
 Check mirrors frequently.
 See the whole picture and anticipate what the other driver will do.
 Be sure you are seen and communicate your intentions.
 Follow at safe distances, three or four seconds behind the proceeding vehicle at the
current speed.
 Watch for a last resort escape route.
 Choose less demanding routes and know where to go in advance.
 Check traffic over your shoulder before changing lanes.
 Look backwards before backing up.
 Use other aids as necessary (hats, visors, tinted lenses, magnifiers, etc.).
New drivers, whether or not they have albinism and lower visual acuity, often experience typical
problems. One common example is the difficulty almost all new drivers encounter when trying
to steer the vehicle straight at high speeds the first time they drive on a highway. Because the
new driver tends to look directly in front of the vehicle instead of focusing on a point in the
distance, the driver 'oversteers', and the vehicle may move back and forth or in and out of the
traffic lane. Patience and practice will allow the new driver to overcome these tendencies.

Drivers with albinism may experience some unique challenges in driving that other drivers with
low vision do not encounter. For example, persons with albinism have very low tolerance to
bright light and glare, and they do not have true binocular vision. They must learn to compensate
for glare from the sun or oncoming headlights, and also must develop the ability to judge depth
of field monocularly in driving situations. Learning to ride a bicycle safely may help develop
depth perception, compensation for various light conditions, judgment, reaction time, and
familiarity with driving patterns.

Bioptic Driving

The most popular low vision aid utilized for driving by persons with albinism is the bioptic
telescope. The bioptic consists of a miniature Galilean telescope that is positioned in the upper
portion of a carrier lens. The carrier lens, which incorporates the individual's standard refractive
correction, is conventionally mounted in the frame. This arrangement allows the user to look
through the telescopic portion for spotting and magnifying distant objects while permitting a
rapid change in fixation to the large carrier lens for general viewing of the entire visual
environment. The most commonly used bioptic magnifications prescribed for driving are the
2.2X, the 3.0X and the 4.0X. The bioptic telescope is a lens system that requires time and
training for an individual to become proficient in its use. The following is an effective bioptic
training sequence that has been used by many individuals.

 Rapidly locate stationary objects while you are still.
 Rapidly locate moving objects while you are still.
 Rapidly locate moving objects while you are moving (preferably as a passenger in a car).
 Develop accurate visual perception skills to evaluate the environment rapidly.

A bioptic is used only intermittently, never constantly, during driving. The bioptic is a spotting
device. The amount one spots through the bioptic varies depending on the type of driving.
Generally the faster one is going, the more often the bioptic will be used for spotting distant
objects. The majority of driving tasks will use the vision through the carrier lens. Maximizing
eye movement instead of head movement can decrease response time.

The Controversy over Bioptics

Critics of using bioptics for driving raise several concerns including:

 small visual field through the bioptic telescope;
 ring scotoma causing a hazardous blind spot;
 vibration and speed blur;
 telescopic parallax (shifting of view) and depth perception;
 difficulty of using the bioptic with mirrors;
 critical adjustment of the bioptic frame and angle of the lens.

Proponents of the use of the bioptic telescope respond:

 The visual field through various types of bioptics of 6 to 17 degrees is actually larger than
the 5 degree foveal (precise vision) area for a normally sighted person with 20/20 vision.
 The ring scotoma (blind area) around the telescope does not pose a hazard when the
bioptic user moves the head and is moving through space in a vehicle because no object
can be ―lost‖ for a significant length of time in the scotoma under these conditions.
 Everyone, no matter what vision they have, experiences deterioration of the visual image
due to speed blur at increased speeds and this phenomena is unrelated to the use of the
bioptic.
 It is unnecessary to have binocular vision in order to perceive depth. Drivers who have
vision in only one eye (but do not have low vision) perceive depth monocularly and drive
safely.
 The image in a mirror is at infinity focus.
 A bioptic focused for distance will be able to magnify the reflected image for the user as
if the user were looking at the object in the distance.
 Adjustments of the lens and frame are critical, but the user can learn to adjust the
nosepieces and temples for optimal positioning of the telescope.

Conclusion

If you have low vision due to albinism, and are highly motivated to drive, you can do it as long
as your eye specialist verifies that you meet the visual prerequisites for your state, and you put
forth the time and effort to learn how to do it safely.

÷Dennis K Kelleher, Ed.D.
Member, NOAH Board of Directors

÷Charla McMillan, M.S.
President, NOAH

What Do You See?

An Adult with Albinism's Description of What He Sees

© 2000 Mattew Bailey NOAH Board Of Directors

One of the most common questions those of us with albinism get from normally sighted people
is, "what do you see?" This question is also one of the most worrisome questions parents of
children with albinism have. Normally sighted people are often baffled when we tell you our
vision is NOT "blurry". So how is it that we have below normal visual acuity, yet don't have
blurry vision? I'm NOT an eye doctor, merely a young adult with albinism who is just as curious
about how normally sighted people see as you are in how people with albinism see, but here's my
best shot at explaining my own understanding of our vision and why it is NOT blurry:

Imagine a large, clear color photo printed on the front page of the newspaper. Now imagine that
someone in the photo is wearing a golf shirt with some lettering or a logo on the shirt pocket.
You look at the photo up close, trying to read the lettering printed on the shirt. To your dismay,
you can't quite make it out. Overall, the picture is not blurry. Yet when you look at the small
details, you just can't make them out. If you were looking at the original photo the paper used,
however, you could make out those words.

So what's the difference between the original photo and the photo as printed in the paper? The
difference is the resolution, or the number of dots that make up the picture. In other words, the
picture in the newspaper and on film is really a bunch of individual dots that are different colors.
The picture printed in the newspaper is made up of fewer dots than the picture on film.
Therefore, each dot covers a larger portion of the total picture and the amount of fine detail you
can see is less. To see how a picture is made up of dots, just look at the picture on your TV
screen from a few inches away. You'll be able to see the individual dots. The picture on the back
of the human eye is also made up of dots - millions and millions of them! They're the "cones"
and "rods" on the retina in the back of the eye. People with albinism have less of the cones then
normally sighted people because of the lack of pigment. So, we have fewer "dots" to make up the
picture we see.

Another trick to see how less resolution does not make a picture blurry is to look at a picture you
have scanned into your computer and digitally compressed to send as an email attachment. The
digital compression reduces the number of dots in the photo so you can send it over the Internet
faster. Compare the digitally compressed picture on your computer screen to the original print.
You'll see more subtle details in the original photo print. If you have a digital camera, take a few
pictures using your camera's highest resolution (pixel) setting, and then take a few on your
camera's lowest setting. Compare the difference: None of the photos you took were blurry (we
hope), but you can see more details using the high-resolution setting! The difference between
how those of us with albinism see and those of you normally sighted folks see is a lot like the
difference between the low resolution digital camera photo verses the high resolution picture:
Neither is blurry, however, we can't quite make out some of the finer details that you can. Just
like that low resolution digital image you email to grandma, however, we generally don't need to
see the details we're missing to live a perfectly typical life.

So why do normally sighted people assume our vision is blurry? Those of us with albinism
should keep in mind that for normally sighted people, the only reason they experience reduced
vision is because the lens in front of their eye doesn't focus the image clearly onto the back of
their eye. That's what near-sightedness, far-sightedness, and astigmatism are - focusing
problems. Glasses and contacts correct these problems by reshaping the light entering the eye so
that it does send an in focus image to the back of the eye, much like you would correct a blurry
slide projector or a blurry image in your binoculars by turning the focus knob and thereby
repositioning the lens. People with albinism also have these problems affecting our ability to
focus. That's why it can be important for young children and even babies with albinism to wear
glasses - the back of the eye and the children's use of their vision can both develop more fully in
many children if they have the most focused image possible on the back of the eye.

What Adoptive Parents Say:
how easy to manage...VERY EASY!!!
what dr's & how often.... ped opthomologist every 8months while eyes are still developing after
that once a year
dermatologist...once a year just to check them over since higher
chance of skin cancer since sun sensitive
pediatrician....as w/ all kids once a year and as needed
not a dr, but we also go to the Center for visually impaired once a
month ...I don't think we would have to, but they check out how the boys are functioning to see if
there are any problems that they could help them w/. So far nothing. our boys are making the
most of their vision. some kids it might be noticed having more problems w/ say depth of field
or when older w/ reading and may need cane training so they know when changes of shadings
really equal changes or drops in their path, or what type of magnifiers they may need to aid them
w/ reading or if it a better route to learn braille.

how affected is your children's vision..... both of my boys are legally blind. close vision around
20/70 and distance at 20/200- 20/400. I was
floored. I really honestly thought it had to be better than that. Nope!
My kids get around great. I have seen them very rarely slown down by their vision. when do I
see it? New sets of stairs w/ not good lighting. once in a while at a new park, if they can't
determine easily how big a drop it is my boys will instead drop down to their bellies and slide
down that way (or maybe they can tell that it was too big a drop for them?????) one occasion on
a marble floor...first experience on this type of floor surface and there were black tiles...one of
my guys "toed" the dark spot to be sure it was not a drop before stepping onto it. Our bigger
problem w/ depth (or maybe its just being almost 3 and not knowing how to put on the brakes
when running full speed ahead) is when our 2 guys collide when running at full speed...OUCH!
mr Z is going to have a shiner tomorow...they ran in opposite directions around a corner in our
house tonight and smack..full speed crash one boy hit his forhead into the other guys cheekbone
high right near his eye.....could be age, but we assume it was partly due to vison.
also our boys are definitely photosensitive...meaning the
light hurts their eyes. the reason.....melanin which colors your skin also does a few different
things for the eyes. they are responsible for some of the iris coloring. myboys iris' are blue, but
100% of light goes right through. Imagine you went to the eye dr. and had your eyes dilated.
that is what they face everyday. So sunglasses are a regular part of their outfits. They do choose
on cloudy days not to bother w/ them, but if the sun comes out....yep they want those sunglasses
on ....even though they are only 3 (this week) they know they help.

does your child wear contact lenses...no. they did just get glasses to help w/ astigmatism, but so
far they don't seem to notice that these glasses make a difference...so our succes w/ wearing them
isn't the same as the sunglasses which they definitely get.
when they are older we will get them contacts ...we will get the ones that are opaque so that they
will offer them light blocking ...those are supposed to be more expensive, but if they need em,
they'll get em.

they will definitely end up using some sort of magnifying devices, I am pretty sure of that.
...what exactly they will need...not sure yet. we are still early in their lives. on a plus note I was
at the CVI (center for the visually impaired) in Atlanta and they were showing us how
technology is getting so much better (fast) and prices are getting lower and lower too. they were
comparing CCTV.... technology that blows up stuff and you view it on a screen. They used to be
several thousands of dollars and they werent' anything that you could be mobile w/. just 5 years
ago or so they would have been like toting around a 30" tv. Now they have some cool tech out
there that you can attach to a laptop so you could say sit in the back of a lecture hall and zoom in
on your teacher or the board and see it on your computer screen. and these were around one
thousand....they told all of us w/ little ones (it was a 2yr old parents group) to wait and see what
would be available by the time our kids were in high school and colllege!!!!

accomadations....none yet. but kids are only in pre k program. I have heard of families asking
for things as small as films to be put over the flourescent lights in their classes to having
classroom aides that ensure that the days lesson gets copied in large print and given to child
instead of child trying to see everything written on board. some schools will provide more tech
than that....hopefully someone w/ older kids will pop on and answere some of the older kids
questions

social issues.....well, everywhere we go people comment on their hair. my kids don't seem to
notice YET...but its just a matter of time. w/in seconds of us being at the park a little boy yelled
out...hey...their hair is white! My hubby (later) said to me....you should have said, that's great

you are learning your colors . you have to have a sense of humor about it so that your
kids can too.
We have even been approached at the aquarium ...which had an albina alligator exhibit....by
people asking ...are they albinos too?

syndromes....HPS is one sydrome Hermansky Pudlak syndrome....it is VERY VERY RARE. in
the US albinism is one in 17.000...for any form (including the form that has full coloration ie
oculuar albinsim) albinism w/ what people think of as "albinos" w/ white hair like my guys the
rate is one in 40,000 people. Albinism w/ HPS is somewhere between one in 500,000 to one in a
million people. There are higher reportings w/ hispanic backgrounds though there are 2 kids
from China whose families are on the baichina board....so it can happen but it is very rare.
more info...http://www.hpsnetwork.org/

there is also a syndrome that involves hearing issues ...but you should have some indication
about hearing from the file....I honestly don't have more info about this one for you ...sorry. I
did have my boys tested for HPS. As a precaution. they do not have it.

retrofit house.... not really, well... we did put blinds on our deck to cut down morning and
afternoon sun. we put a blind on our kitchen window. and we are considering putting some sun
darkening tints on our living room windows (this room is 2 stories high and gets pretty much full
sun all day)....but that is the only adjustment we needed to make.
our boys were 15mths at adoption and will be 3 next week.

honestly we thought it would be so much harder than it is. We had talked to families w/ real
world experience but still were expecting it to be more difficult.

day to day....no biggie for us. unless you don't like the look of sunglasses and hats!

-jelllo

Amniotic Band Syndrome
Adapted from AmnioticBandSyndrome.com

(ABS) also called Amniotic Constriction Band Syndrome is a set of congenital birth defects
believed to be caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic
bands while in utero.

In other words: before the baby was born, the body parts that were affected by ABS (arm,
fingers, toes, etc.,) were caught up and entangled in string-like bands. This causes abnormalities
that are present at birth.

Some common deformities that result from ABS are:

missing digits
missing limbs
webbing of fingers/toes
sometimes -- clubfoot
more rarely -- cleft lip/palate

This is a birth defect that in no way impairs the cognitive function of the baby -- it is strictly a
physical issue. In some cases, there is a need for surgery for separation of webbing. In the cases
where a limb is missing -- often no surgery is needed. For clubfoot -- it is treated as any other
child born with this issue.

What adoptive parents say:

Anorectal malformations
Adapted from Cincinatti Children's
Anorectal malformations are defects that occur during the fifth to seventh weeks of fetal
development. With these defects, the anus (opening at the end of the large intestine through
which stool passes) and the rectum (area of the large intestine just above the anus) do not
develop properly.

Anorectal Malformations affect 1 in 5,000 babies and is slightly more common in males.

The exact cause of anorectal malformations is unknown. In some cases, environmental factors or
drug exposure during pregnancy may play a role, but this is still unclear.

During a bowel movement, stool passes from the large intestine to the rectum and then to the
anus. Nerves in the anal canal help us sense the need for a bowel movement and also stimulate
muscle activity. Muscles in this area help control when we have a bowel movement.

With an anorectal malformation, any of the following abnormalities can occur:

 The anal passage may be narrow or misplaced in front of where it should be located
 A membrane may be present over the anal opening
 The rectum may not connect to the anus
 The rectum may connect to part of the urinary tract or the reproductive system through a
passage called a fistula, and an anal opening is not present

What adoptive parents say:

basically lived (amazingly enough) severely constipated, passing small amounts of liquid stool
through a fistula inside her vaginal wall. She likely also suffered many UTI‘s given how severe
her constipation was when we first met our sweet girl.

A month after returning home we traveled to Cincinnati childrens hospital to meet with the world
experts in analrectal malformations…the amazing Dr.Levitt and Dr..Pena. Don‘t go anywhere
else….you can see other surgeons but these two are the BEST in the world and like my husband
said, ―butts are all they do‖

As part of SJ‘s evaluation she had an MRI which revealed that she also had a tethered spinal
cord. TC occurs in about 25% of children born with IA. She also seen by the OB/GYN on staff at
the colorectal center. While in operating room Dr.Breech (love her) took a look to be sure all
SJ‘s girl parts where there. Many girls born with IA will also have issues with their internal
female parts. Some will have hemi-uterus, or absent or partial reproductive organs. SJ did not
have these issues so I will leave that for other parents to comment.

Our hospital stay was 10 days. Cincy childrens is an amazing hospital focused on children and
families. I can‘t say enough positive statements about this amazing place. It is a Godsend for
children with IA. DON‖T GO ANYWHERE ELSE.
A month after her psarp surgery SJ had her cord released at a local well known hospital. She
seems to have not residual effects from having had a TC.

So what happens after surgery?

After her spinal surgery we began 2x daily anal dilations. Using specially designed metal rods
we inserted the rods to help dilate the anus. This is required so that the opening is large enough
to pass stool. We did this for a year going up in size until we reached the size dilator for her age.
Although we did this 2x a day and only kept the dilator placed for a minute I was glad when that
treatment was over. It was difficult because one of us had to hold SJ down while the other
inserted the dilator. We just kept telling ourselves that we were doing this for her….not to her. It
was still difficult.

Constipation doesn‘t sound like that big of a deal….I know I thought the same thing!!! But with
kids with IA avoiding constipation is the challenge. Their colon does not effectively move waste.
Left untreated or managed, the stool sits in the colon stretching the colon, making the colon even
less effective, the stool gets hard and then liquid stool begins to occur presenting like stool
incontinence.

There are two ways that the Cincinnati childrens colorectal center recommends
managing/avoiding constipation. Daily enemas or daily laxatives. We initially managed our
daughters constipation with laxatives but were not very successful, we switched to enemas after
attending a week of bowel management. Dr.Levitt and Pena are committed the entire childs well
being and being continent and socially acceptable is a large part of their mission. After attending
bm week SJ was clean and dry like her typically developing peers. We are now in the process of
switching to using laxatives. SJ is older and we think this will give her a little more
independence. If laxatives don‘t work for her then we will go back to enemas. The goal is for SJ
to empty her colon and remain clean for 24 hours, we will do that with enemas or laxatives.

**You can not manage a child with IA with fiber. Their system does not work the same way
someone with a typical colon. Do not listen to the GI doctor who tells you this! The nerves in a
child with IA did not develop effectively enough to move waste. Fiber will only bulk up in the
colon causing constipation.

Thats the medical stuff. The attachment stuff is different for everyone sn or not, but this was our
experience.

I believe that the attachment process was slowed due to the daily dilations. How could SJ
possibly trust us if we were holding her down 2x a day and putting a metal rod in her bum? We
parented her to encourage attachment ( she slept in our room, although she did not sleep through
the night, we carried her, limited caregiver duties etc). The summer we stopped the dilations and
attended BM week we decided to back up the attachment bus:) I began carrying my then 3 year
old in a hip sling anytime we were in a public place, I re-introduced the bottle and baby time. A
year and a half after being home SJ still did not hold eye contact when close, she would hold eye
contact when she was being defiant though!! We also began to see an attachment therapist. SJ
made tremendous growth that summer! By Christmas she was sleeping through the night,
although she was still in our room.Tantrums declined and we saw more and more of our happy
girl.

She is such a brave and amazing girl. We could not imagine our lives without this little ball of
fire.

IA takes some managing but once you figure it out it is all good:) The figuring out part just takes
some time.

hann23 Says:

I have 2 boys (adopted in 2007 and 2009) with imperforate anus. I‘ve seen many children on the
shared list with the special need of anal atresia but the correct medical condition (in the US) is
termed imperforate anus. IA (imperforate anus) is a SN near and dear to my heart. For us, it has
been an easily managed need and one we would consider over and over again.

IA is either managed by daily laxatives (always a senna based laxative) or daily enemas. The
trick to controlling IA and having a completely continent child (in underwear, with no accidents)
is for them to have one ―blowout‖ BM a day. Many kids (especially those with a low defect or
fistula) can achieve this through daily laxatives. My 5 year old son takes ExLax every morning
and has a large BM every evening around dinner. The only accommodation he needs is easy
access to a potty every night. When you‘re on laxatives and you need to go, you usually need to
go right now! No big deal right?

My 6 year old son is a different matter altogether. He had a high defect (or fistula) and laxatives
did not keep him clean and in big boy underwear 100% of the time. Enemas were a must for him.
Instead of worrying with traditional enemas for the rest of his life, we chose to go to Cincinnati
Children‘s Hospital and get a Malone. A Malone is a teeny-tiny hole (you can not see it) put into
a belly button that connects to the bowels through the appendix. Every evening, my 6 year old
puts a thin tube into his belly button and we flush a saline concoction through his bowels. It is
very much like an enema, but from the top of the colon down. The best part is that the Malone
protects his privacy. Nothing goes into his rear end and therefore, there‘s nothing to be
embarrassed about. The flush takes about 50 minutes a day. If we are going out in the evening,
we do the flush right after school. If we have sports practice or an after-school activity, we do the
flush right before bed. Regardless, it works and my boy is completely continent. He can swim,
play sports and go to spend-the-night parties with his Malone (it is truly invisible.)

There are few things anyone considering a child with IA must know:
1. You will (or should) travel to Cincinnati Children‘s Hospital for testing, surgery and/or bowel
management. It doesn‘t matter if you live in the most medically advanced city in the world.
There are only 2 doctors in the entire world who specialize in IA and their clinic is in Cincinnati.
2. Your child will be continent and in regular underwear if you go to Cincinnati. I believe their
success rate is well over 95%. They will work with you relentlessly to achieve this goal.
3. Many children from China with repaired IA need a re-do surgery once home. Both of my boys
needed re-dos. My oldest son‘s surgery was performed poorly and he actually had a connection
(fistula) between his ureter and colon that was not fixed during his first surgery. My younger son
had a successful surgery in China but his anus was never dilated properly (if at all.) Imagine
growing into an adult with an anus the size of a newborns. With the help of Dr. Levitt in
Cincinnati, his bum is perfect now.

As you can tell, I am an open book regarding this special need. I have been amazed (and
saddened) by the number of children with this SN that wait and wait for parents. IA is only a tiny
blip in my kids daily lives. They were born with a bum that didn‘t quite form correctly – that‘s it.
My boys will need no further medical treatment for the rest of their lives (at least for their IA.)

If you are considering a child with this special need and need any help at all, please do not
hesitate to contact me. My forum name is the same (Raising Arizona) and my blog is
http://www.dragonsandelephants.blogspot.com

Arthrogryposis
Adapted from Children's Hospital Boston

Arthrogryposis is a term used to describe a number of rare, non-progressive conditions
characterized by stiff joints and abnormal muscle development. It is also referred to as
arthrogryposis multiplex congenita or amyloplasia.

The exact cause of arthrogryposis is unknown,
though a number of different theories have been proposed. Some believe that arthrogryposis is
caused by mechanical obstructions to intrauterine movement during pregnancy. Others believe
that it may be a result of an early viral infection during development. Still others believe that
arthrogryposis is the result of failure of the central nervous system and/or muscular system to
develop appropriately. Arthrogryposis is not thought to be a genetic or hereditary condition.

Birthmarks
Adapted from Birthmarks.com

Café au lait Spot
Flat patches.
Occur anywhere on body.
Tan to light brown.
Permanent.
If child has several spots, consult doctor. Could indicate
Neurofibromatosis.

Cavernous Hemangioma
Bluish or bluish-red in color.
Lumpy mass.
Borders not visible as with other hemangiomas.
Grows fast during first 6 months – then slows95% disappear by 10-12 years of age.
Treatments are the same as for strawberry hemangioma.

Congenital Pigmented Nevi
Appear as hairy moles.
Can vary in color – light brown to dark/almost black.
Giant pigmented nevi are not as common as small ones.
Large nevi should be examined for malignancy.
Hemangioma
Reddish in color.
83% occur on the head and neck area.
Occur 5 times more often in females.
Some visible at birth or within 1 to 4 weeks after birth.
Can grow for up to 18 months, then start to involute.
Involution can last 3 – 10 years.
Some can be life threatening – interfere with eating, breathing, seeing, hearing, speaking, cause
strain on heart.
Internal hemangiomas can be very dangerous and hard to detect – some internal lesions require
no treatment and shrink in time.
If more than 3 hemangiomas are present, entire body scan should be done.

Lymphatic Malformation
Excess fluid accumulates causing lymphatic vessels to enlarge.
Sponge-like masses of abnormal channels and spaces containing clear fluid.
Leakage from skin can occur – can lead to cellulitis.
If lymph vessels in face affected, face will swell.
Can occur anywhere on body but most common in head and neck area.
In mouth area, looks like frog eggs.
Can increase and grow with the individual.
Only skilled surgeon should treat.
MRI and CAT scan are used to diagnose.
Laser treatment, sclerotherapy, and surgery used to treat or remove.

Mongolian Spot
Blue or slate grey in color.
Resemble bruises.
Common in babies of races with dark skin (African/African-American, Mediterranean, Asian or
Indian descent).
Can be found on buttocks, back and sometimes legs and shoulders.
No treatment needed – usually fade over time.
Port Wine Stain or Nevus Flammeus
Red or purple in color.
Can appear anywhere on body.
Most are readily visible at birth – congenital.
Can be flat or slightly raised.
Usually permanent.
Laser treatment used to help reduce color, and to improve the texture of the skin (helps to
prevent nodules and pws growth which can affect lips, gums and other tissues).
photo courtesy of laidongth at flickr

Salmon Patch or Nevus Simplex
Salmon-colored.
Sometimes called ―angel kiss‖ or ―stork bite‖.
Most often found on the nape of the neck.
Also appear on the forehead, upper eyelids, and around the mouth and nose.
More than 95% lighten and fade completely.

Strawberry Hemangioma
Vascular malformation.
Red, soft, raised appearance.
Size varies.
May be present at birth or first few weeks thereafter.
Will grow, but start to fade (involute), turn grey in color.
Usually disappear between ages 5-10.
Surgery might be necessary to remove – depending on size and location of lesion.
Other treatments - compression and massage, steroids, X-ray therapy, laser therapy, cryotherapy,
or injection of hardening agents.

Venous Malformation
Abnormality of the large deep veins, sometimes mistaken for hemangioma.
Can be deep or superficial – deep can have no color but show a protruding mass.
Jaw, cheek lips and tongue are most common areas affected.
Soft to the touch, color disappears and empties when the lesion is compressed.
When a child cries or is lying down the lesion expands and the vessels fill and the color becomes
more intense.
Slow, steady enlargement – it will grow – some things cause more rapid growth such as serious
sickness, trauma, infection, hormone changes (puberty, pregnancy, menopause).
Partial removal is not recommended, as these lesions will grow back.

What Adoptive Parents Say:
 We brought our daughter home from China in November, 2009. She was 10.5 months
old. Her SWI was outside of Shanghai. Our daughter‘s special need was a giant hairy
nevus of approximately 8.5 centimeters surrounding her right eye, and covering her right
cheek, forehead and bridge of her nose. She had no other special needs. When I saw her
referral photograph, there was no doubt in my mind that she was mine. I just could not
imagine anyone else having the great privilege of loving her. I am certainly biased, but,
she was just gorgeous. We did the requisite medical consult and were told that, while the
nevus was significant, it could be treated. Most importantly, the risk of cancer is removed
with the removal of the nevus. Little research exists, but, estimates are that between 2%
to 11% of giant hairy nevi become melanomas. The risk increases after the age of 2 years.
We went to China prepared. At 10:00 AM on November 2, 2009, I held my precious girl.
I swear time stopped. The nevus looked ―less thick‖ in real life than what it had appeared
in the photos. The hair was not course, but soft, like a kitten for lack of a better
description. We did get a lot of stares in China. I was prepared for that. We have a child
in a wheelchair, so we‘ve never looked like every other family. I was taken aback when
Chinese folks would ask me why I wanted ―that one‖. My answer? Because she is mine
and I love her. Our daughter‘s ―issues‖ were more associated with food. She had to have
something to eat in her hand the entire time we were in China. She still associates food
with security and comfort. She goes to daycare, practically next door to my office every
day, and loves it. However, when I am at home, she likes me to be in her range of vision.
Bonding was not an issue, ever. Our sweetheart saw the ocular plastic surgeon (who
makes a trip every year to China to perform surgery there) the week we came home. She
saw a microvascular flap ENT several months later and then a world reknown pediatric
plastic surgeon a few months after that. In October 2010, our daughter had 3 expanders
placed under her scalp and over her right collar bone. The expanders, which remained in
place until her reconstructive surgery on January 6, 2011, provided the skin that would
cover the wound that was left at the removal of the nevus. The expanders were the most
difficult part. They are extremely painful initially. Our daughter healed relatively quickly
from the insertion and then considered the weekly ―fills‖ during which saline was
injected to expand the balloons while our daughter was under anesthesia, to be par for the
course. After nine hours of surgery on January 6, 2011 and a blood transfusion, our
daughter is healing beautifully. The doctors expect that within a few months no one will
be able to tell that the nevus was ever on our daughter‘s face. We plan to adopt again and
will readily adopt a child with a nevus. Anyone choosing to adopt a child with a nevus
should be prepared for some stares and stupid questions, but really, in the grand scheme
of things, we have gotton far more support than we ever did stupid questions. I‘d love to
offer support as well as the names and contact info. for our superb medical team to
anyone interested in adopting a child with a nevus!!

Brachial Plexus Injury
Adapted from National Institute of Health

Brachial Plexus Injury

The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder,
arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may
include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of
feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder
trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome,
or brachial plexitis, which causes inflammation of the brachial plexus without any obvious
shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by
weakness and numbness. In infants, brachial plexus injuries may happen during birth if the
baby‘s shoulder is stretched during passage in the birth canal.

diagram courtesy of nickbrazel on flickr

The severity of a brachial plexus injury is determined by the type of damage done to the nerves.
The most severe type, avulsion, is caused when the nerve root is severed or cut from the spinal
cord. There is also an incomplete form of avulsion in which part of the nerve is damaged and
which leaves some opportunity for the nerve to slowly recover function. Neuropraxia, or stretch
injury, is the mildest type of injury. Neuropraxia damages the protective covering of the nerve,
which causes problems with nerve signal conduction, but does not always damage the nerve
underneath.
a one-month-old boy with Erb's Palsy;
photo courtesy of interplast on flickr

Cerebral Palsy
Adapted from United Cerebral Palsy

Cerebral palsy, also referred to as CP, is a term used to describe a group of chronic conditions
affecting body movement and muscle coordination. It is caused by damage to one or more
specific areas of the brain, usually occurring during fetal development; before, during, or shortly
after birth; or during infancy. Thus, these disorders are not caused by problems in the muscles or
nerves. Instead, faulty development or damage to motor areas in the brain disrupt the brain's
ability to adequately control movement and posture.

"Cerebral" refers to the brain and "palsy" to muscle weakness/poor control. Cerebral palsy itself
is not progressive (i.e. brain damage does not get worse); however, secondary conditions, such as
muscle spasticity, can develop which may get better over time, get worse, or remain the same.
Cerebral palsy is not communicable. It is not a disease and should not be referred to as such.
Although cerebral palsy is not "curable" in the accepted sense, training and therapy can help
improve function.
photo courtesy of saritainchina on flickr

Cleft Lip/Cleft Palate
Adapted from Cleft Palate Foundation

A cleft lip is a separation of the two sides of the lip. The separation often includes the bones of
the upper jaw and/or upper gum. A cleft palate is an opening in the roof of the mouth in which
the two sides of the palate did not fuse, or join together, as the unborn baby was developing.
Cleft lip and cleft palate can occur on one side (unilateral cleft lip and/or palate), or on both sides
(bilateral cleft lip and/or palate). Because the lip and the palate develop separately, it is possible
for the child to have a cleft lip, a cleft palate, or both cleft lip and cleft palate.
Before and after Surgery; photos courtesy of interplast on Flickr

Cleft lip and cleft palate are congenital defects, or birth defects, which occur very early in
pregnancy. The majority of clefts appear to be due to a combination of genetics and
environmental factors. The risks of recurrence of a cleft condition are dependent upon many
factors, including the number of affected persons in the family, the closeness of affected
relatives, the race and sex of all affected persons, and the severity of the clefts.

A child born with a cleft frequently requires several different types of services, e.g., surgery,
dental/orthodontic care, and speech therapy, all of which need to be provided in a coordinated
manner over a period of years. This coordinated care is provided by interdisciplinary cleft
palate/craniofacial teams comprised of professionals from a variety of health care disciplines
who work together on the child‘s total rehabilitation.

What Adoptive Parents Say:
 We are home 3 months with our 2 year old princess. She has cl-cp grade 3 (most
extensive) and Hepatitis B.
She had no surgery in china. I was prepared for her from photos as were my dh and son
of 7 years. When we were actually handed her I was alittle shocked as it immediately
looked worse than I imagined from the photos. I quickly composed myself and never
looked back. One thing that I was NOT prepared for were the stares in the street from the
chinese people. Not because of the adoption as we were in GZ the whole time but people
actually asked me why we wanted one like that and not a NORMAL one. This hurt as I
also had my ds to consider who was also standing listening most times. We travelled in a
group of 14 families and we were the only SN adoption so stuck out like a sore thumb.
I was glad to get home and immediatly planned surgery. She was operated on her lip and
soft palate together one month home. She did fantastically well. She has had her arms in
slints so she cannot bend them so cannot reach her mouth which is full of sutures for 42
days. This in turn meant she cannot walk alone as if she fell she cannot put out her arms
properly to save herself. She has been carried around and did not understand why we
wouldnt let her down. It did not have any negative affects on attchment. She had her
splints off last wednesday and is the happiest girl in the world. We have been told her lip
is not perfect and never will be as she is very old a 2 years and alot of growing has taken
place and the hole was huge. She will need her hard palate closed when she is 4 years old.
At 9 years old a bone graft to close her gumline and then orthodontist to fix what is
missing. At 12 years a nose repair as her nose will flatten and turn slightly as she grows
and at 12 they will put it in its place before her teenage years are affected. She will also
need speech therapy. I asked last week and they said to wait alittle longer as she is only
one and half months post operative.
 Our DD was adopted at 19 mos old- unilateral CL repaired, CP unrepaired, has CGum
too. She has had CP repair here, ear tubes placed, mild- moderate hearing loss which is
repairing itself, and constant nosebleeds, due to her cleft. That is about the extent of her
immediate medical needs, which for us are easily managed due to location of medical
facilities.

She has started speech because at 27 mos. now, she is frustrated and angry that we do not
understand her 80% of the time. We utilize all sorts of creative ways to communicate
which I will not go into here, but she functions at least at a 12 mo. old in regards to
speech. She has gained some basic sounds and increased movement of her repaired lip, it
will be slow going and we foresee years of speech- evals and appointments. She gets
speech 1x week for now, and just got qualified to add another 45 min.

I am fortunately a SAHM with another toddler who gets speech, my older kids are in
school- it makes it a whole lot easier with the appts. for follow up for ENT, Speech, and
Cleft Team. We‘ve still had to call in help (grandparents)when we knew the appts. would
be long/all day at the hospital or offices for example when we were setting up all the
evals prior to surgeries, those took a few trips to CHOP for a two weeks. She‘ll also be
needing another surgery at age 6 for her cleft gum/bone graft and possible palate
expanders and also to be determined revision of her nose because it is partially collapsed
(which causes her constant nose bleeds cause of the thin membranes-those are a real
pain!) She will need orthodontist work because of the extent of her mouth being affected
by the cleft as well. Fortunately for us PA has an awesome MA system for CP kids,
covers most of all of our copays for her, wonderful for us when you think of all the
finanacial costs involed.

My biggest concern is her self image, how she views herself in relation to her peers and
how she processes that, with our love and help in addition to adoption related identity
issues. She is too young now, so we shall see how that goes in the future. One thing that
always amazes me is when people ask‖what is wrong‖, at this point I feel at liberty to
educate cuase she is a bit young but the time is coming when I‘ll have to end that and
decide which way to proceed. I feel like we have to educate cause people have this
perception that once the surgery is done, that‘s it and having a cleft kid is not a ―that‘s it‖
type of special need. Each sn kid has their own challenges and whether it‘s speech,
appearance etc…it‘s not ―easy‖. She is an amzing kid and we are so fortunate to be her
parents but we are prepared for many years of struggles, of watching and guiding her
through those moments of why am I different- why do I look different- am I beautiful
even with my clefts etc….if anyone has questions, pm me, our blog is
http://www.loveisinthewaiting.com, password- oreo, most of her medical stuff is on
there. She is a strong, beautiful, curious, active little survivor, our peanut!

 Our DS was 19 months at adoption with repaired cleft lip and unrepaired cleft palate. He
was in a group foster home in Beijing but was originally from Shanxi. We believe his lip
repair was done when he was between 4-8 months old. He was very well taken care of to
the point of being quite the little emperor for a while. He could eat anything but could not
drink out of a straw or regular sippy cup as cl/cp kids can‘t suck. He drooled like crazy!
Food and liquid came out of his nose, which after the first couple of times, I hardly
noticed anymore. The first time I looked in his mouth at his palate I was shocked. I had
seen pics but when it is YOUR child, that first look was almost painful. Then it became
no big deal! Besides being slightly developmentally delayed and obviously speech
delayed he was a normal toddler. He had a few institutional behaviors but those have
lessened over time. We had early intervention come in right away and he received his
first speech therapy within a month of coming home. While we had researched CL/CP
extensively, I was not prepared for the fact that his surgeries could fail. This was the
hardest part as I felt I had failed him in some way since the surgeries failed. His first
surgery to repair his palate came at about 6 months home. They repaired his palate and
put in ear tubes. After about a week home we noticed his palate repair had failed. I was
crushed. His next surgery was 6 months later to once again try to repair his palate. This
one also failed and I was once again crushed. I hated putting him through the surgeries
(even though he is amazing about the hospital) and the fact that each time his palate
repair failed, it delayed his speech even further. We made the decision to change our
insurance and surgeon. BEST decision ever. There is great debate amongst CL/CP
experts about whether to take out the tonsils and adnoids before the p-flap surgery. After
much research, we decided to have his removed, which was another surgery. A year after
his second failure, at age 3 1/2 he had a pharyengal (sp?) flap surgery done to repair his
palate and a lip revision. It worked! We could notice a difference in his speech right away
but it took about 6 months for his speech to explode! He has gone from being intelligible
about 10% of the time to about 50% of the time and is improving every day! He is so
proud and happy that people can understand him better now! He attends speech therapy
twice a week for an hour each time. Insurance pays for one hour and we pay out of
pocket for the other.
His speech pathologist said she believes he will be almost totally intelligible by the time
he goes to kindergarten in a year and 1/2. I feel like that is a miracle! He just also had
surgery on both eyes for lazy eye. So since he has been with us, in 2 1/2 years, he has had
5 major surgeries-not quite what we expected. In the future he will need a bone graft
surgery and jaw surgery for his underbite. He will need lots of orthodontia as he has
funky teeth on the top, some of which are fused. He will need a lip/nose revision and
septum (CP kids have deviated septums) repair when he is in teens. These all seem easy
to us after the last 2.5 years and 5 surgeries! Some things I recommend are to check your
state laws, many states have laws that insurance MUST cover everything to do with the
CL/CP until the child is 18. Check with your school district to see what kind of services
they have for speech delayed kids. Our biggest disappointment has been in our school
district, they said DS would only receive 30 minutes of speech each week with 5 other
kids! Like that is going to help him!! We plan on putting up a BIG fight once he is in
kindergarten. Research the CL/CP teams in your area. Ask other parents of CL/CP kids
for recommendations.
My biggest recommendation is to not consider this a minor special need. All cleft kids are
different and all their medical and emotional needs will be different. While I would adopt
another CL/CP kid in a second, I found this need to be medically a lot more than I
expected.
I am also happy to answer PM‘s, same screen name.
Our son is an AMAZING kid, very healthy and stubborn and is my hero for how he has
taken all this in stride.
 cljohnson33919 here. We have two cleft kids and I agree that they are all different. Both
of ours had repaired unilateral (one sided) cleft lips and unrepaired palates. One daughter
had just a hole in the middle of her palate. She had it repaired,ear tubes,a year of speech,
and speaks very clearly at age three.

Our older daughter had literally no roof to her mouth at all–doctors called it a large
horseshoe shaped cleft palate. Because of that, she had more speech issues and needed
another palate surgery later. She also had a complication from that surgery called
stenosis–her nasal airway scarred closed when it healed. She had repeated surgeries to re-
open it (she couldn‘t breathe out of her nose at all) and finally, our new doctor made her a
new nasal airway in the back of her palate, and she can breathe again! She also has
perforated eardrums which have not resulted in any significant hearing loss, but will
require a graft eventually.
Both will need a bone graft to correct the cleft in their gum (many have a split in the gum
right under the cleft lip). They have a missing tooth there, and the bone graft will enable
them to either move an existing tooth there through orthodontia, or have an implant later.
Cleft kids typically have missing teeth, extra teeth, and need orthodontia in two stages–
one starts when permanent teeth start coming in, and the other later on. We have had a lot
of problems with crowding, and quite a few baby teeth pulled, to allow the permanent
teeth to come in. Speech is still an issue for our 8 year old, but doctors feel that
orthodontia will help with that, so we‘re getting that started now.

Overall, my dd‘s are healthy, very intelligent, happy kids, and have no other problems.
They are my treasures and I am so grateful to have them in my life! Feel free to email me
with any questions.

 Ricky was adopted at almost 17 months old with a repaired bilateral cleft lip and
unrepaired palate. China said this was a second degree cleft. The US doesn‘t rank clefts.
His cleft went through the gum. His lip was repaired in China at 7 months old. We
repaired his palate at 19 months old here in Atlanta. The sugery did help us with
attachment as well.

The one thing I can say is be prepared for the unknown. It isn‘t really the surgeries that
affects us. It is the speech or the lack of. Ricky really didn‘t start talking until age 3. He
has been in speech therapy since 20 months old. He is now 4 1/2 and very delayed in
speech. It can be frustrating for all when he cannot communicate his needs to you. We
did teach him sign when we first came home and that did help. But now is now more
advanced in words than his sign so he does have alot of frustration. We will be looking
for additional signing classes if our next surgery doesn‘t work. Everyone feels if our next
surgery is a success, Ricky‘s speech will improve.

As far as surgeries, you also need to be prepared for things not to work for whatever
reason. We have had 5 palate surgeries – all of them had some sort of failure with them.
The last 3 were attempts to do a phalangeal flap – they all failed. We are currently
looking into other cleft clinics in the Southeast and Northeast. I never expected to have to
travel out of state for his needs. Yes we are the unusual one but you need to be prepared
for that. We have also had 3 sets of ear tubes the last one was suppose to be permanent.
Well one fell out so it will probably be replaced at the same time as our next surgery.

The biggest thing I can say about adopting a cleft child is that speech is an every day
need. It affects everything we do. If affects Ricky every day. You need to be prepared for
speech therapy at least once a week, if not multiple times a week.

I also agree no two cleft kids are alike. Be sure to make sure your cleft team treats your
child for their particular issues not part of a standard treatment of how they typically deal
with cleft kids. I‘m learning this is the mistake was made for Ricky and why we are
looking elsewhere.
Overall, Ricky is charming, rock star personality kid that goes with the flow. I wouldn‘t
trade him for the world.

 I adopted my dd at 2 years old and we have been home just shy of 3 years. Both her lip
and palate were repaired in China. She is an amazing kid, and while the attachment issues
were intense in the beginning and still play out from time to time (velcro baby at first and
now some anxious attachment is still persists) I feel like the emotional issues have been
manageable.

I did a lot of research going in and thought it would be easier than it has been. I really
believe I saw what I wanted to see. Thought that because her palate was fixed relatively
early (14 months), by adoption standards, her speech wouldn‘t be impacted to the degree
it has. My dd had moderate hearing loss due to fluid, which was corrected by tubes. Her
hearing is now normal, but I‘m sure only added to the speech delays. She was in ST once
a week through EI for the first year and then twice a week for the past two (both through
the school district and privately). She will have a p-flap surgery for her VPI in June,
which really scares me, but am hopeful it will make a difference in being able to
understand her. The twice a week ST sessions take time, as will the surgery, but I did
expect the time element. What I didn‘t think about, though, is how hard it is to not
understand your child when she enthusiastically wants to share, or watching her peers not
understand her and her saying ―nothing‖ rather than repeating again and again. It breaks
my heart a little. I feel like I have grieved not having the conversations with my daughter
that I hear so many of my friends have with their toddlers. My dd has made great
progress, but continues to be a year behind in both her expressive and receptive language.
She will start Kg in the fall, which is a worry. It is always trying to find the balance of
protecting her from things that are over her head, but not holding her back when she
needs a vote of confidence that she can do it. When your child can‘t communicate very
well it is hard to get an accurate picture of what they know and what they are learning.

In addition to the speech related issues, there have been some scares about what could
have been syndrome related issues. In addition to the cleft issues, we discovered a kidney
issue (not a major one), and then eventually a ―surprise‖ minor heart defect. These could
have been indicative of a syndrome, but were relieved to discover were not after doing
some genetic testing. The kidney and the cleft palate issue are likely to be related due to
their developmental timing (didn‘t now that going in). While the heart also develops at
the same time, my dd‘s heart defect turns out to not at all be related.

My poor dd has has had a few other potential medical issues crop up that were not listed
on the referral info. So, while the cleft has impacted life some, its the whole picture of her
medical profile that has been more challenging emotionally and timewise. Thank
goodness, none of it life threatening, just scary.

Glossary of terms
Clubfoot
What is clubfoot?

Clubfoot, also known as talipes equinovarus, is a common congenital birth defect present in
approximately 150,000 newborns worldwide every year. It affects boys slightly more frequently
than girls and bilateral clubfoot (when both feet are affected) occurs in 30-50% of cases. The
cause of clubfoot is largely unknown, but environmental factors and genetics are believed to play
a part. When a child is born with the condition, the affected foot is turned upward and inward. If
left uncorrected, the child would walk on the side or top of the foot. The goal of treating the
clubfoot is to achieve a foot that looks and functions as much like a normal foot as possible.
Most doctors agree that the initial treatment should be non-operative. Unfortunately, many
doctors are not correctly trained in the Ponseti Method of serial casting, and surgery becomes too
often the rule, instead of the exception.

little one before treatment at An Orphan's Wish

What is the Ponseti Method of treatment?

Dr. Ponseti began developing a method to correct clubfoot without surgery in 1948. Dr. Ponseti
passed away in October of 2009, at the age of 95. He continued to treat children with clubfoot at
the University of Iowa Children‘s Hospital, until just months before he passed away.

Ponseti‘s method involves a series of plaster casts, applied from toe to groin, changed every 5 to
7 days. The doctor gently manipulates the bones of the foot in a specific order. The cast holds the
foot in the new position, gently stretching the tendons and ligaments. With each cast change, the
foot is manipulated in small increments, until the last cast achieves full correction. Most children
with clubfoot require 5 – 7 casts and only in atypical cases are more casts necessary. For a child
treated from birth, no more than 9 casts are required to achieve full correction.
A percutaneous tenotomy is required in approximately 80% of patients to lengthen the Achilles‘
tendon to complete the correction. This procedure can be done in an office setting with local
anesthesia. It involves a small poke with a tiny scalpel in the child‘s heel and requires no stitches
to close the wound. After the tenotomy, the final cast is applied, which stays on for 3 weeks in
order for the tendon to regenerate to the proper length. When the last cast is removed, the child
begins wearing a brace that holds the corrected foot in a stretched position, essentially
‗retraining‘ the body to recognize the new, corrected, foot alignment; similar to the use of a
retainer after orthodontic braces are removed.

The brace consists of two shoes, connected by a bar. The brace is worn for 23 hours a day for the
first 3 months. Over time, the daily bracing hours are gradually reduced. By the time the child is
walking, the bracing hours are reduced to bed time only. The brace is worn at night until
approximately 5 years of age. The tendency for the foot to relapse remains active for years, but
diminishes over time as the child grows. The exact causes of relapse are still being studied. At
this time there are no criteria to determine whether or not a child‘s foot is prone to relapse.
Wearing the brace to keep the foot stretched gives the child the best chance to avoid relapse.
After they are released from the brace wear, there are no special requirements and, assuming the
child has no additional health issues, they may pursue an active lifestyle with no restrictions.
When applied by a skilled physician, Ponseti‘s method is successful in achieving complete
correction in nearly 100% of patients with congenital clubfoot.

same little guy... after serial castings!

Why is serial casting better than surgery?

The Ponseti method has many advantages over surgical reconstruction. The first consideration is
how much easier gentle manipulations and serial castings are for the patient to endure. Casting is
not painful and often the child watches curiously as the foot is gently manipulated and as the
plaster casts are applied. Secondly, surgery often makes the clubfoot ‗look‘ correct, but internally
the components of the foot and leg have been weakened. Excessive scar tissue, stiffness and
limited motion can be effects of surgery, occurring early in the patient‘s life and lasting a
lifetime. This leaves the patient with a somewhat normal looking foot, but with potentially
debilitating foot pain. Patients who have had their clubfoot reconstructed surgically often require
additional surgeries over time; which can lead to more scar tissue and complications.

What Adoptive Parents Say:
 We came home 2 months ago with our son. He was 21 months at the time, with bilateral
(both feet) untreated clubfoot. He had been in foster care, and was healthy, and
developmentally on target, including running and climbing, albeit awkwardly. When we
initially decided it was a SN we could do, we assumed it would be a surgery or two to
correct. After referral, when looking for a doctor, we found alot of info out there on a
casting technique that tries to avoid surgery. It uses sequential casting to gradually move
the foot and ankle back to proper position, and is called the Ponsetti technique. We found
a doctor 2 hours away (we live in a rural area) that was willing to try our son since he'd
never done any children that old, and another 4 hours away that is a colleague of Dr.
Ponsetti and had more experience with older children. So we've been driving once a
week, 4 hours each way, to Dallas for 5 weeks now. The transformation of ds's feet has
been absolutely amazing. He went from horribly rigid feet that turned in (his left actually
pointed backwards) and he walked on the tops of his feet, to flexible feet that are now
pointing the right direction. He has a bit more casting to do, then a brace he'll wear first
all the time, but then weaned down to night time only.

The trick in the States is to find someone comfortable treating older children, since here
most babies are treated within weeks of birth. If the child in question has already had
some sort of surgery or treatments, that can also complicate things.

There is a yahoo group clubfootadoption if you'd like other stories. There are a variety of
stories there, from casting to surgery to a combination of both. Most children adopted are
a good bit older than the norm for treatment in the States, and so everyone there can
speak to this issue. It is also a good place to find references for good doctors. That and
the nosurgery4clubfoot group (that one is a bit biased towards casting and is
predominantly parents of bio young children/babies.)

So far, I'd do clubfoot again in a heartbeat. The driving is horrible, and our yearly
mileage for our mini-van lease is shot, but in the scheme of our son's life, it is a drop in
the bucket.
 We came home in April with our 21 mos ds who had severe bilateral clubfoot. He had
not had treatment in China. We found a Ponseti recommended doctor in Dallas, and ds's
feet now are beautiful. It took 10 casts, a tenotomy, and 2 further casts. He wears a
brace at night.

Treating olderchildren with casting is relatively new. Dr. Ponseti himself told me that 2
years ago, he would have recommended surgery for our ds. The standard in the States is
to treat children as newborns. Very few people have experience treating older children. If
you recieve a referral for a child with clubfoot, look long and hard for a doctor that has
done older kids before. - older being more than a few months old.

I would do clubfoot again in a heartbeat.
 Ds had bilateral clubfoot and arthrogryposis (AMC). He came home at 21 months, and
we began casting using the Ponseti method 2 months later. His AMC made his cf severe.
His ankles were basically fused. Due to this, it took several more casts than usual. The
standard treatment is 5-9 casts and ds had 12. The casts are changed every 5-7 days. Ds
could crawl in them, and by the end was walking, running, and dancing in them. He then
had a tenotomy, to lengthen the typically short achillle‘s tendon that cf kids have. That is
usually an office procedure done under local anesthetic with babies. Because ds was
older, we did it in an OR under general anesthesia. I did not want him traumatized by
being held down, etc. He then wore a special brace which yokes the two feet together and
holds the feet at a specific angle. First he wore the brace 23 hours/day, but as he had been
walking and running prior to casting, he was quickly transitioned to bracing at
nights/naps only. Walking on the feet will prevent relapse better than just the brace. He
wore the brace while sleeping until he turned 5. It was not an issue with him, and just part
of his bed time routine.

He now runs and jumps like any 5 year old. His ankles are still very stiff, and he has little
movement in them due to the AMC. That is not correctable, but it does not slow him
down at all. He has skinny bird legs, also typical of cf kids. Their calve muscle is also
underdeveloped. His ankles are a bit funky looking, but not bad.

A consideration for Ponseti treatment in these kids is that there are not as many doctors
with experience treating older children (older than newborns). We traveled 4.5 hours each
way, once a week, for almost 20 weeks to ds‘s doctor. That was not in our plans
originally, but no one closer was capable. There is a very good yahoo group
nosurgery4clubfoot which can give recommendations on doctors.

A big argument in cf circles is surgery vs casting. As a surgeon myself, I think casting is
vastly superior. Much less trauma to the tissue, and a more anatomic correction can be
achieved. With that said, some kids need surgery regardless, and even Dr. Ponseti had a
5% surgery rate.

Ds‘s AMC has not been an issue either. It was undiagnosed in China, but was apparent to
us within 24 hours. His wrists do not bend backwards at all. Not an issue unless he is
crawling or playing the piano. He will not be a world class gymnast. He has one shoulder
that does not extend the entire way up. His wrists could have been treated by splints as a
child. It is too late now and anything we do would compromise his otherwise very good
joint function in all other directions.

Ds does not have any other syndromes, nerve damage, etc, that can sometimes be found
in cf kids. We considered cf a minor need. While it was time intensive early on, it is now
a non-issue. He will see his doctor once a year until he stops growing.
We have adopted two boys from China with a Dx of unrepaired bilateral clubfoot. Both
had straightforward cases of clubfoot – one son required 7 sets of casts and the other 6
sets to achieve full correction.

For us, it was best to travel straight to the one who founded the Ponseti method, Dr.
Ponseti, who was still treating patients in Iowa when we brought our sons home. We
were very concerned that our local provider would struggle with treating an ‗older‘ child
correctly and we didn‘t want to take a chance with our sons feet! We worked with Dr.
Ponseti and Dr. Morcuende, who studied under Dr. Ponseti for years and worked with
him at U of I until Dr. P died in 2009. Dr. Morcuende was/is fantastic with both our boys,
the result achieved is amazing, and our boys have no limitations or pain.

I do strongly recommend anyone considering clubfoot as a SN to be aware that surgery is
most often not the best course of treatment, but it is necessary in a small percentage of
instances, as lojeslj posted so well above. Honestly, we were shocked by how many
―Ponseti trained‖ docs were telling us our boys, at 16 and 19 months of age, were ―too
old‖ for casting and that surgery would be necessary… without even looking at their feet!
Both of them are living proof that this is NOT true. They are successfully casting kids
past age 10 now, amazingly. So, please parents, do your homework. Get on the
nosurgery4clubfoot yahoo group, ask questions to other clubfoot parents, doctors and
providers, and don‘t assume that just because your local doc recommends surgery, that it
is the best/only option for your clubfoot child. Doctors prefer surgery because it is less
time consuming and more lucrative, but for the child, surgery has all sorts of long term
implications… future surgeries, early onset arthritis, etc.

While clubfoot casting is laborious in the early months, we feel like has been an
extremely easy special need. Once the casting/bracing phase is over (4-6 months) then the
child goes into a night brace until age 5. Other than that there is NOTHING required. We
visit the ortho once a year. Our boys can do anything they want now… it‘s a true blessing
to see the changes that casting can achieve :)You can see our little guys at our blog:
http://nihaoyall.com

 We adopted our dd at 29 months old. She was born with severe bilateral club feet (and
mild arthrogryposis). She was cast in China and wore braces after the casting. We think
she was about three months when she first began the casting.

She was walking when we met her, but not steadily. She could not really walk up or
down any slight incline, steps, etc. I think that she really hadn‘t practiced much. It was
obvious, though, that she was very well cared for. She lived in a loving foster home.

We consulted with several doctors when we returned home. They all felt that her
correction was very well done (although her flexibility was limited) and that we should
continue with night bracing and continue with check-ups twice a year.

Jump ahead about a year and a half… she started taking her night braces off (even with
triple knots) and it only took about six months for her to regress. We went to see three
specialists- two with Ponsetti training – and we got three different opinions. It was a
nightmare. We live in a rural area and had to drive four hours out of state each way to see
anyone remotely experienced with treating cf for older kids. Two suggested surgery. I
emailed photos and talked to btdt parents. We researched for months and watched her
continue to regress.

I wanted to share our story, because we are one of the very few cf families that I know of
that did go with surgery. The doctor we worked with trained with Ponsetti and was very
clear why he felt she was in that 5% that would benefit. She had tendon transfers and
lengthening of the Achilles. She also had to go through about three months of casting pre-
and post surgery. They were full leg casts, which can be tough for a near five year old.
She really didn‘t move around much, but learned how to use a wheel chair pretty well
when home.

It was an extremely difficult decision for us to go with the surgery. I will never know if
the surgery was absolutely necessary and maybe she could have issues later in life. But,
her feet are now flat on the floor and she walks beautifully (although her ankles are still
stiff). She runs and hops around and never complains of pain. Her doctor made AFOs
(orthopedic leg/ankle braces) for her to wear after the casts came off and he has given her
the okay not to wear anything now, but we still have her wear them –just in case.

Our DD is the most well-adjusted, smart and funny little girl. I love her beyond belief!
She plays well with her siblings and bonded with us quite easily. If I could (and I may –
shh, don‘t tell my husband) I would definitely adopt a child with club foot again. The
weekly traveling was hard on us mostly because of where we live and the other children,
but I would do it again in a heartbeat.

Congenital Heart Defects
Adapted from March of Dimes

Congenital Heart Defects ~ Most common types
photo courtesy of nadanaka on Flickr

 Patent ductus arteriosus (PDA): Before birth, a large artery (ductus arteriosus) lets the
blood bypass the lungs because the fetus gets its oxygen through the placenta. The ductus
normally closes soon after birth so that blood can travel to the lungs and pick up oxygen.
If it doesn‘t close, the baby may develop heart failure. This problem occurs most
frequently in premature babies. Treatment with medicine during the early days of life
often can close the ductus. If that doesn't work, surgery is needed.

diagram available through the Creative
Commons license, courtesy of Wikipedia

 Septal defect: This is a hole in the wall (septum) that divides the right and left sides of
the heart. A hole in the wall between the heart‘s two upper chambers is called an atrial
septal defect, while a hole between the lower chambers is called a ventricular septal
defect. These defects can cause the blood to circulate improperly, so the heart has to work
harder. Some atrial septal defects can be repaired without surgery by inserting a thin,
flexible tube into the heart and then releasing a device that plugs the hole. A surgeon also
can close an atrial or ventricular septal defect by sewing or patching the hole. Small holes
may heal by themselves or not need repair at all.
diagram courtesy of Mizm on Flickr

 Coarctation of the aorta: Part of the aorta, the large artery that sends blood from the
heart to the rest of the body, may be too narrow for the blood to flow evenly. A surgeon
can cut away the narrow part and sew the open ends together, replace the constricted
section with man-made material, or patch it with part of a blood vessel taken from
elsewhere in the body. Sometimes, this narrowed area can be widened by inflating a
balloon on the tip of a catheter (tube) inserted through an artery.

courtesy of Miriam's Place on Flickr
 Heart valve abnormalities: Some babies are born with heart valves that do not close
normally or are narrowed or blocked, so blood can‘t flow smoothly. Surgeons usually can
repair the valves or replace them with man-made ones. Balloons on catheters also are
frequently used to fix faulty valves.

photo available through the Creative
Commons license, courtesy of Wikipedia

 Tetralogy of Fallot: This combination of four heart defects keeps some blood from
getting to the lungs. As a result, the blood that is pumped to the body may not have
enough oxygen. Affected babies have episodes of cyanosis and may grow poorly. This
defect is usually surgically repaired in the early months of life.

diagrams and photos courtesy of laidongth,
wisdomheart and peterstuckings, all on Flickr

 Transposition of the great arteries: Transposition occurs when the positions of the two
major arteries leaving the heart are reversed, so that each arises from the wrong pumping
chamber. Affected newborns suffer from severe cyanosis due to a lack of oxygen in the
blood. Recent surgical advances make it possible to correct this serious defect in the
newborn period.
photo available through the Creative
Commons license, courtesy of Wikipedia

 Hypoplastic left heart syndrome: This combination of defects results in a left ventricle
(the heart‘s main pumping chamber) that is too small to support life. Without treatment,
this defect is usually fatal in the first few weeks of life. However, over the last 25 years,
survival rates have dramatically improved with new surgical procedures and, less
frequently, heart transplants.

photo courtesy of Wen-Yan King on Flickr
What adoptive parents say:
lizzyf1 Says:
March 15th, 2011 at 6:49 am

we adopted our daughter when she was 2 1/2 years old (She is now 5 1/2). She was special needs
and had CHD-VSD. A ventricular septal defect (VSD) is a heart malformation present at birth.
Any condition that is present at birth can also be termed a ―congenital‖ condition. A VSD,
therefore, is a type of congenital heart disease (CHD). The heart with a VSD has a hole in the
wall (the septum) between its two lower chambers (the ventricles).

She had surgery when she was 1 1/2 years old in China. We brought her to a cardiologist when
we got home and they said whatever they did….it worked! Her heart is fine now and we don‘t
have to have any special precautions.

Thankfully her special needs hasn‘t been an issue whatsoever for us. She has a lovely scar down
her chest but other than that….no ill effects.

petnjay Says:
March 15th, 2011 at 8:15 am

Single Ventricle Defect, Heterotaxy, PDA, TGA, DORV, Pulmonary Stenosis

We adopted our daughter with the above heart conditions at 22 months old in January 2009. She
had had no surgery in China. With Single Ventricle defect, a child always runs the risk of having
high pulmonary pressures which can prevent her from being a candidate for surgery. I was told
that without the surgery these children have about a 15% chance of living to the age of five.
Open heart surgery for this condition requires two parts, a Glenn procedure and a Fontan
procedure. The Glenn is usually done shortly after a child is born, around 6 months old. The
heart and body are given time to get used to the new physiology after surgery and then the child
has the second stage, the Fontan, at around 18 months to 2 years old.

Many of the children who have this condition in China do not get the Glenn done as infants, and
therefore have low oxygen levels (our daughter‘s was 62%, but I‘ve heard of much worse) and
they need surgery immediately after coming home. I know of many cases in which the child had
both procedures done at one time, both the Glenn and the Fontan. This is quite risky, but if the
child is a candidate for surgery, having it done far outweighs the risk of not doing it immediately.
The surgery is very expensive, and adoptive parents should make sure their health insurance
coverage will make this feasible. Expect the costs to run around $500,000. Typical hospital stay
is about 2 weeks. Our daughter had complications and was in the hospital for about 2 months.

There is no cure for single ventricle defect. The surgery is palliative, and presently the life
expectancy of these children is 30s to 40s. There are also complications that can arise from the
re-routed circulatory system. Protein Losing Enteropathy, possible learning disabilities (from low
oxygen levels prior to surgery, and from the surgical procedure itself as the heart must be
stopped and circulation ceased for some time during the operation), and liver complications are
some of the more common ones seen in Fontan patients. Also, leaking tricuspid valves are
normal, and I have been told that the valve cannot be repaired without a heart transplant due to
the position of the valve. Because of the potential complications involving the liver, single
ventricle patients are not usually able to get on lists for heart/lung transplants.

As for follow-up after surgery, our daughter was on several meds and had to see the cardiologist
frequently right after surgery for about 3 months, then it became monthly, and after the 6 month
point, she just goes in twice a year for an echocardiogram and an ekg. She is on aspirin therapy
now. We cannot get life insurance for her, and I do not know of any single ventricle child that
has been insured (life, not health, insurance). Other than her bluish lips when she gets cold, we
really do not even think of her heart condition on a daily basis. We keep her away from
situations where she could catch respiratory illnesses, and we make sure she‘s vaccinated for flu
every year. She gets a cold now and then, but is healthy and strong enough to get through it. She
cannot take decongestants, but any other meds safe for someone with pulmonary hypertension
are acceptable.

Our daughter will turn 4 next week and is doing very well. She is energetic and active; she loves
to swim, ride her bike, play on the swings, and do everything else a typical 4-year old does. She
is starting to read and really does great with numbers and patterns. We have seen no learning
disabilities at this time. We are overjoyed to have her in our lives for as long as she is given to
PETERK Says:
March 15th, 2011 at 8:33 am

Good Morning everyone,Me and my wife adopted our daughter at 2 1/2 years old with VSD
also.(she is now 4).Our circumstances sound just like lizzyf1.The cardiologist we brought her to
in Boston said they did a great job in China repairing her heart and she has no problems with it.
There are no restrictions placed on her. She also has a long scar down her chest,but that can be
fixed later.Honestly,I can say we were worried when we said yes to taking her because we only
had ( officially 48 hours ) to decide but they gave us some extra days,and the medical records the
agency got on her were not very detailed for the Doctor to review them and make an informed
decision. We finally said yes to her and to this day you would never know she had a problem
with her heart.She is thriving and growing tall and strong being home with us now for 19
months. I am so happy we chose her off the 48 hour list and for all the extra work our agency did
for us. I can say there are no physical problems to deal with. She may be a little behind in
speech,but that is coming along well.

We would not trade her for an ―easier‖ special need, and we know that each day is a gift.

TrulyBlessed Says:
March 15th, 2011 at 9:09 am

Our daughter was identified with a VSD at 8 months of age and put on the SN list due to a 5mm
hole in her heart. When we met her at just over 19 months old and brought her home to see her
cardiologist, a chest x-ray showed that her heart was the right size for her body and a sedated
echocardiogram showed a 9mm hole instead. Fortunately, though, her blood pressure was where
it needed to be in both ventricles and because we had reported no concerning behaviors (such as
lips and fingertips turning blue, shortness of breath while eating or playing, squatting behaviors)
and the cardiologist made the decision to hold off on surgery and see if the hole would close on
it‘s own. At 3 1/2 years old, with no surgery and no medications whatsoever, the hole was
pronounced closed and she will only need one further cardiology appointment next summer.

However, as we found out when we met her, her CHD was only one of her ―special needs‖ (and
turned out to be the ―easiest‖ to overcome) — as I said, she was 19 months old when we met her,
but was really more like a floppy 8 month old. She couldn‘t sit on her own, we had to prop
pillows around her to keep her upright. She had zero strength in her legs and could barely
support herself while holding on to our fingers. She knew the mechanics of walking, but it would
take her another three months of exercise and proper nutrition for her to be strong enough to
walk on her own. She never crawled. Our daughter had been left in a crib for 19 months, her
skull flattened from lying on her back. Her teeth were brown and broken and her gums were
severely infected and bleeding. She had never had anything but a bottle for nutrition. Her legs
had been tied to the crib and to this day she has grooves around her ankles where the restraints
had been tied (for years she had dark purple discoloration around her ankles, but those marks
have faded over time). In short, she was very developmentally delayed and is finally catching up
to her peers. She is now 4 1/2 and very small for her age (especially compared to American
children — she is easily 4″ – 8″ shorter than all of her classmates in preschool. Because of her
rough beginnings, we will enroll her in preschool for another year so that when she starts
Kindergarten she will be nearly 6 years old.

mamatothree Says:
March 15th, 2011 at 11:12 am

Our daughter was adopted at 2.5 yrs of age. She had a 17mm VSD which was repaired in China
at 11 months of age. Today at 5, she is an active little girl with no limitations. The repair in
China was amazing and our pediatric cardiologist here is very pleased. She has almost no
murmur and we only go the cardiologist every 2 yrs.

kedutton Says:
March 15th, 2011 at 12:10 pm

We came home with our daughter last June when she was 20 months. She had a diagnosis of
Atrial Septal Defect (ASD). She had another echocardiagram last fall when she turned two and it
showed that the hole has already closed on its own. We go back to the pediatric cardiologist in
two years for a follow-up. No murmur was heard. She has never been sympomatic and is a
mighty force in our home. She has been able to keep up with her two big brothers step for step.
Developmentally, she is small for her age (5th percentile) on the Chinese growth charts, but the
doctors feel that she is growing well. Social, fine motor, gross motor is on target or ahead.
Obviously, this SN has been quite simple for us, but we went into it completely ready for
anything including heart surgery.
As far as any advice to PAP‘s, I would tell you that there is no obligation to share the details of
your child‘s SN with people. When we got home with her, a tactless extended family member
said ―I thought she has some kind of heart condition or something!‖ Because I shared her story
with people other than close relatives, I feel that I have given her another label. Not only does
she carry ―adopted‖ and any others people want to put on her, but she carries ―heart condition‖,
and that is my fault. I wish I would have saved the details of her story for her to tell.

zgirl1 Says:
March 15th, 2011 at 12:53 pm
We adopted our son in April 2010. He was 17.5 months old, and his files said that he had a
repaired VSD and club feet. He had open heart surgery in June 2009 (at 9 months of age) to fix
the VSD. When we arrived home, he had a cardiology work-up and the doctor said the repair
was done so well that they would not have seen it on the ultrasound if they didn‘t know to look
for it.

DS‘s heart is ―fixed.‖ It functions normally, it causes no problems, and he‘s on no medication.
We have to go back in 3 years for a routine check-up.

A few tidbits, though: DS was on the small side at birth, and he‘s still small. This is probably
partly due to the large size of the VSD and to the heart surgery itself (recover from open heart
surgery can be hard on the body). He also has gross motor delays, which probably is a result of
his surgery, his club feet and relatednerve damage, and institutionalization.

Finally, DS‘s open heart surgery scar looks ―normal‖ but he has mild pigeon chesting on his
right side due to the open heart surgery and how the ribs healed. It‘s a relatively small bump and
hopefully it will get less noticeable over time as he grows.

chinamomma Says:
March 15th, 2011 at 2:25 pm

We adopted our DD#2 at 24 months old. She was diagnosed with a VSD, PFO and PDA repaired
in China at 7 months old. These are all holes in the heart that cause oxygen-rich blood to mix
with blood that has traveled around the body and distributed its oxygen. We were prepared to
deal with any issues that came up when we commited to adopting our DD. Fortunately her repair
was very good and she was released from the cardiologist‘s care with routine annual check-ups.

However, she was not speaking words but just babbling when she joined our family. She could
understand English quickly and was good at making her wishes known. After several months of
developmental and speech therapy with little progress, I knew something else was wrong but no
one would listen. I finally insisted she be referred to a specialist where they discovered she had a
VPI (a cleft palate where the muscles do not extend over the roof of the mouth). With two
congenital issues, it only took me 5 minutes on the internet to realize she probably had a VCFS
(velo-cardio-facial syndrome or 22q deletion syndrome). She was diagnosed in October 2008
with this chromosone issue and has since had tests on her kidneys, hearing, immune systems,
electrolytes and many others. She has had surgery to repair her cleft with good results and tubes
put in for frequent ear infections. She has frequent bouts of pneumonia which we are trying to
find a cause (either asthma or damage to her lungs before her heart was repaired). She also has
some hearing loss in her left ear.

Sound like a bad case scenerio? A relatively managable SN that turned into a rather scary
chromosone disorder? If you could see my DD now, it would never even cross your mind. She is
the toughest 4 year old I know. Her speech is understood most of the time by everybody. She is
in ballet, learning her letters and numbers and will go to kindergarten on time in the fall. She is
only 28 pounds fully clothed but is such a joy to our family. She has 3 older siblings and is
determined that they will do nothing without her. Her famous saying at our home is, ―I big, too!‖
when she wants to join in. There have been few attachment issues with her so far. She is so small
it is so easy to cuddle and carry her when she needs extra comfort.

Biggest concerns now include helping her gain weight, speech therapy, keeping her ears healthy,
helping her learn her letters. Her syndrome does not define her, and she amazes me every day.

To tell or not to tell: We have chose to only tell her grandparents about her health history. We
feel this is her story to tell some day as it will have a big impact on her future (her biological
children will have a 50% chance of having VCFS). Don‘t think we are not ashamed at all. We
just feel it is no one else‘s business as people will probably have an opinion or judge her by a
syndrome which is only a small part of her life. Also, VCFS comes with 90% chance of learning
delays and a high incidence of psych issues later in life. We live one day at a time, so I don‘t
need anyone looking up medical information to scare my daughter with before she needs to
know. So people know she needs speech therapy and that she has a history of heart problems and
that‘s enough for now. We have also chose not to tell others about our DD #1 who was adopted
from China at 11 months as NSN and has thalassema minor. A non-issue at present but she will
need genetic consuling also before having bio kids.

You need to be prepared to advocate strongly for your child. I am on the phone frequently with
schools, therapists, insurance companies and coordinating care with numerous doctors. We are
fortunate that our state offers a secondary insurance for kids with certain special needs. Feel free
to contact me with questions – my ID is chinamomma on the forum, too. This is the first time I
have posted her whole story so please be kind if you disagree with my wording.

Ms. J Says:
March 15th, 2011 at 3:09 pm

We adopted our daughter from China at the age of 15 months. Her diagnosis was an Atrial Septal
Defect (ASD), with pulmonary valve stenosis. The whole in her heart (the ASD) was 8 mm, but
she was still a potential candidate for cardiac catheterization (where they thread up through the
groin and slip a patch over the hole to close it), but the possibility of open heart surgery was
known from the moment we had her medical records reviewed, and we chose to proceed.

She was completely asymptomatic – meaning she was not blue, great appetite, normal
height/weight, and the energy of half-dozen children combined, LOL. This was partially due to
the pulmonary valve stenosis – imagine a peace-sign, with the three flaps . . . one of our
daughter‘s was sealed shut, thereby equalizing pressure in her heart as blood flowed.

Upon returning to the USA, all of the medical records from China matched up exactly with tests
run in USA. However, because of the location of the hole, open heart surgery was required. Docs
advised us to wait until we were out of cold/flu season (she never had a cold/flu, and wasn‘t in
daycare though). A week prior to her 2nd birthday she had the open heart surgery. Open heart
surgery involves the fracturing of the sternum (clavicle), and being on bypass machine during
surgery. While repairing the hole (the ASD) the cardiac-thoracic surgeon also repaired her
pulmonary valve by slicing open the flapped that was sealed shut – had he not, the ASD repair
would then have made the pressure un-equal. The fluke of the pulmonary stenosis contributed (in
a positive way) to making her ASD (hole in heart) be asymptomatic.

She spent one day in the pediatric cardiac ICU (normal protocol), heavily sedated. Then another
day in the step-down unit. She was eating normally by the second day.

She was discharged 52 hours after we entered the hospital! Biggest issue, physically, was that a
sternum fracture takes 6 weeks to fully heal. That means lifting carefully (from under legs/bum,
not under the arms), no playground visits, jumping/climbing that could re-injure. Totally
manageable, since she was at that time an only child, and not in daycare (so we could monitor
more closely), and mainly around adults. She had to have shallow baths until the scar (vertical on
her chest) was fully healed – I think about 4 weeks until we got okay to return to her preferred
deep water baths. Took diuretic for one month after surgery to guard off fluid buildup (were able
to sneak into bottle, no problem). She refused any attempts for us to give her pain meds after we
got home, and seemed to manage it well. This was her choice – she had full comprehension of
English and was speaking in simple sentences.

Followup . . . one appointment (for echocardiogram and an EKG) two weeks after surgery. Then
next followup was at 4 months, and another at one year post-surgical mark. She has been
released to now visiting pediatric cardiologist once every two years. She has no medical, dietary,
or physical restrictions. Life expectancy is normal. She is very energetic, normal height/weight,
appetite. Scar has faded a great deal in 2 years since surgery (we adopted in July 2008, surgery
April 2009).

The worst part of adopting a child with this condition, for me, was ―The Wait.‖ To know your
child is scheduled to have open heart surgery, but it not to actually occur for 6 more months (in
our case), was torture. Every time I put her to bed I was thinking about ―what if‖. Every time I
put her in the bathtub I was looking at her beautiful, unblemished body, and wondering how she
would feel about someday, as a grown woman, with a scar on it. Don‘t pooh-pooh and say ―oh,
but it is life-saving‖ – she will still someday be a teenager and want to wear a shirt or bathing
suit or shop for a wedding dress, and see that other girls have different bodies. Of course we
empower her body image – but she is still going to have moments someday when she struggles
with it, just as she will with being Chinese, etc, having been adopted, etc. And sometimes many
of those will combine at once!

Her condition is/was extremely manageable for us. My insurance is good, but has a high monthly
premium. The heart surgery and tests were 100% covered after $1,250 deductible, and my
flexible spending account covered the deductible. I feel that we were very fortunate – everything
we were told and shown in medical tests matched up completely. Maybe this was because she
was in a major metro area in China, and had access to better diagnostic equipment and such.

Our biggest issue, and far outweighed the ―special need‖ was her grief. She lived with a foster
family for a year, who loved and cherished her deeply (we have a photo book, and they have
begun communicating with us via letters – wow!). Our daughter grieved HUGELY (which we
were ready for, but it still is tough when your nerves are frayed and a child is screaming and
crying that much, every waking second). Our guide in China said that in nearly a decade of
working for our agency, it was the most extreme case of grief she had ever seen. We took it as a
sign of how loved and secure she was, and made it the ideal and remain THANKFUL that she
was cared for as such. I‘d rather have that upfront than a latent issue that surfaces later. With
deep adherence to attachment techniques, we slowly worked through it with her, and limited
contact with her to just us for several months. One grandparent was allowed to begin to interact
at a time (her other caretaker) so as not to overwhelm her, and cement her attachment and trust in
us as parents. It worked. It was hard. So much more than her heart issue. But the grief/attachment
could and can happen with any child who was adopted. PLEASE ADHERE TO
ATTACHMENT TECHNIQUES, REGARDLESS OF WHETHER SPECIAL NEEDS OR
NSN!!!!

My advice . . . you must prepare yourself for things being both better and worse when you adopt
a child, internationally, with a heart condition. Ours was exactly what we anticipated, which
probably doesn‘t happen all the time. It was not a big deal for us, having family in the medical
community who understood the frequency of congenital heart defects in children, but we respect
that it is/was ―life-threatening‖ and not appropriate for all families. Consider your insurance,
lifestyle, and so on, for any ―Special Need.‖ My insurance would not be good for a CP/CL
situation, which may have ongoing doctor visits, surgeries, and speech therapy – but CP/CL isn‘t
life-threatening, so that may appeal to other families whereas a ―heart baby‖ is too much to
handle.

Don‘t romanticize your child‘s condition, and don‘t make it open public knowledge. Your
child‘s medical condition is their private life – not everybody ―has to know.‖ We are proud of
our daughter for many reasons, but her medical history, just like the more intimate details of her
adoption, are on a need-to-know basis.

willowflower Says:
March 15th, 2011 at 3:28 pm

We adopted our daughter at 21 months old. She has a 9mm VSD and a 4.2mm ASD. She was
scheduled for open-heart surgery in China because of the size of the VSD (and it hadn‘t gotten
smaller over time) but the cardiologists here felt that we should wait because the VSD is
restrictive (has some tissue covering the hole, so in essence behaves like a smaller hole, and
clinically she was/is doing perfectly fine..developmentally very on track with an excellent
growth curve, good nutrition, etc.). We asked that they hold off on surgery in China until we
could get her home and evaluated and they agreed. She saw the cardiologist in August ‘10, a few
weeks after arriving home, and they want us to bring her back again in the fall when she turns 3
years old. So far so good. She is very healthy and strong and doing beautifully. Her murmur is
very loud so that hasn‘t changed. Hopefully she won‘t need any surgical intervention but we
don‘t know that yet for sure. We are watching and waiting. If she does need surgical
intervention, it will be open-heart surgery.

babslb Says:
March 15th, 2011 at 4:07 pm
Our daughter was adopted at age 2 in 2007 she is now 6. She had Tetralogy of Fallot (TOF).
Which means she had a VSD, enlarge right ventricle, overiding aorta, narrowing of pulmonary
valve. She had surgery done at 9 months in China through China Care. She has a very leaky
valve that will need to be replaced around age 10-12 years old. Statistically 20% of people with
TOF also have Velocardiofacial syndrome (aka Digeorge, 22qdeletion syndrome). This is a
genetic syndrome that is very very variable in how it affects individuals. Our medical facility
does mandatory testing for VCFS on all TOF babies. Once home our cardiologist recommended
testing. We were really shocked when her test came back positive. This syndrome can affect
almost any bodily system – Kidneys, immune, hearing, vision, cleft palate, VPI, scoliosis,
thyroid, groweth, seizures ect. Like Chinamomma‘s daughter our daughter also had VPI
(velopharngeal insuffiency). Cleft children can also have this conditioin. Our daughter did NOT
have a cleft. She also had hearing loss due to ruptured eardrums from untreated ear infections.
She tested ok on a routine hearing test done at age 2 but a year later tested to have moderate
hearing loss. She was fitted with hearing aids at age 3. They were $4000 and no insurance
coverage. Only about 17 states have insurance mandated coverage for hearing aids othewise
almost no companies offer coverage for aids. She will have surgery to repair her eardrums
around age 7 and this should restore her hearing. To me hearing aids initially felt like a big deal
but don‘t anymore. Her heart is monitored once a year. She did have VPI and had surgery for
that at age 3. Hearing aids and the surgery helped her speech alot. She was basically
unintelligable for her first 2 years home. It amazes me today that her speech is now so clear and
good. I never thought I would be able to say that. Our daughter was also diagnosed with
scoliosis. Currently she wears a back brace at night and has for the past year. I think in the end
this will be the most significant need – years of bracing, future surgery. I hate the thought of her
having to wear it to school. It is very noticable under clothing and limits movement. But thank
goodness right now her curve is stable and only requires night time bracing. It is a mouthful but I
agree with chinamomma you would never know my daughter has a genetic synrome. You would
notice the obvious – hearing aids but otherwise she is socially active, plays soccer, attends a
private preschool, has many friends. With this syndrome there is a high incidence of learning
disabilites, lower IQ‘s, and psychological problems. We justed completed a full psychosocial
testing/IQ, ect on our daugher and she has a normal IQ with some learning issues. I would be
lying if I didn‘t say initially I was terrified of her genetic syndrome – 4 years ago I would not of
chosen this as my path. China did not hide this syndrome – they didn‘t have the testing and
clinical skill to know. I am glad this path found our family. She is the most tender kind hearted
child. She loves to learn and she if is awfully darn cute! I only tell people on an as need to know
basis. Like Chinamom I agree it is her story to share but I want to at least post here to encourage
and inform others.

DiGeorge Syndrome
Adapted from Children's Hospital of Philadelphia

The history of the syndrome, previously referred to as DiGeorge, includes the following
discoveries:
In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular
group of clinical features frequently occurred together, including the following:
hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood
calcium levels)
hypoplastic thymus or absent thymus, which results in problems in the immune system
conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal
defects, vascular rings)
cleft lip and/or palate
The name of DiGeorge syndrome was applied to this group of features.

In the 1970s, Robert Shprintzen, PhD, a speech pathologist, described a group of patients with
similar clinical features including cleft lip and/or palate, conotruncal heart defects, absent or
hypoplastic thymus, and some of these patients also had hypocalcemia. Dr. Shprintzen named
this group of features velo-cardio-facial syndrome, but the syndrome was also referred to as
Shprintzen syndrome.

In the 1980s, the technology was developed to identify an underlying chromosome defect in
these syndromes and it was determined that over 90% of all patients with features of DiGeorge,
Shprintzen, and velo-cardio-facial syndromes had a chromosome deletion in the region of 22q11.
In other words, this was the same syndrome, but because several different researchers in different
areas of expertise had described it, the syndrome carried multiple names.

Many physicians and researchers today use the term 22q11 deletion syndrome because it
describes the underlying chromosome problem, or velo-cardio-facial syndrome (VCFS) because
it describes the main body systems involved.

Ninety percent of patients with the features of this syndrome are missing a small part of their
chromosome 22 at the q11 region. This region encompasses about 30 individual genes and
results in developmental defects in specific structures throughout the body. It is not known why
this region of chromosome 22 is prone to become deleted, but this is one of the most frequent
chromosome defects in newborns.

Deletion 22q11 is estimated to occur in one in 3000 to 4000 live births. Most of the 22q11
deletion cases are new occurrences or sporadic (occurs by chance). However, in about 10% of
families, the deletion is inherited and other family members are affected, or at risk for passing
this deletion to their children. Any person who has this deletion has a 50% chance of passing the
deletion to a child. For this reason, whenever a deletion is diagnosed, both parents are offered the
opportunity to have their blood studied to look for this deletion.

Approximately 10 percent of individuals who have the features of the velo-cardio-facial
syndrome (VCFS) do not have a deletion in the chromosome 22q11 region. Sometimes, other
chromosome defects have been associated with these features, as well as maternal diabetes, fetal
alcohol syndrome, and prenatal exposure to Accutane (a medication for cystic acne).

The following are the most common features of DiGeorge syndrome:
69% have palatal abnormalities (such as cleft lip and/or palate)
30% have feeding difficulties
80% have conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular
septal defects, vascular rings)
40% have hearing loss or abnormal ear exams
30% have genitourinary anomalies (absent or malformed kidney)
60% have hypocalcemia (low blood calcium levels)
40% have microcephaly (small head)
40% have mental retardation (usually borderline to mild) IQs are generally in the 70 to 90 range
33% of adults have psychiatric disorders (i.e., schizophrenia, bipolar disorder)
2% have severe immunologic dysfunction (an immune system which does not work properly due
to abnormal T-cells, causing frequent infections)

Facial features of children with DiGeorge syndrome may include the following:
small ears with thickened, overfolded upper ear
hooded eyelids
prominent nose with bulbous tip
cleft lip and/or palate
small mouth, chin, and side areas of the nose tip

The symptoms of DiGeorge syndrome may resemble other problems or medical conditions.
Always consult your child's physician for a diagnosis.

Ectodermal Dysplasia
Adapted from National Foundation for Ectodermal Dysplasias

Ectodermal Dysplasia

The ectodermal dysplasia (ED) syndromes are a group of about 150 heritable disorders that
affect the ectoderm, the outer layer of tissue in a developing baby. ED syndromes affect both
males and females of all races and ethnic groups.

The ectoderm contributes to the formation of many parts of the body, including the skin, sweat
glands, hair, teeth, and nails. During embryonic development, these and/or other parts of the
baby‘s body, including the lens of the eye, parts of the inner ear, the fingers and toes, or nerves,
among others, may fail to develop normally.
When a child has at least two types of abnormal ectodermal features—for example, malformed
teeth and extremely sparse hair—the child is identified as being affected by an ED ―syndrome.‖
Each of the roughly 150 ED syndromes represents a different combination of abnormalities.
Physical symptoms can range from mild to extremely severe. Very few types of ED involve
learning difficulties.
Dental abnormalities in a five-year-old who
suffers from ED. The x-ray shows the absence
of ten primary and 11 permanent teeth.

photo and x-ray available through the Creative
Commons license, courtesy of Wikipedia

Ear Malformations
Adapted from the Atresia Microtia Foundation

Atresia

Aural atresia refers to the absence an external ear canal. When someone has aural atresia, there is
a high incidence of malformation of the external ear and middle ear also, but the inner ear and
auditory nerve are frequently normal.

A narrowed ear canal (i.e. one where the eardrum can be viewed, but the canal is narrower than
normal) is sometimes referred to as a stenotic canal, or canal stenosis.

Aural atresia most commonly effects just one ear (unilateral), but can occur both ears (bilateral).

Atresia can be a symptom of a larger syndrome, such as Treacher Collins, Crouzon's, Alpert's,
Preiffer, Klippel-Feil, BOR (Branchio-Oto-Renal), 18-q chromosome, as well as Hemifacial
Microsomia.
photo courtesy of Wen-Yan King on Flickr

Microtia

Microtia literally translates from the Latin to mean ―small ear‖. Microtia varies from the
complete absence of the ear (which is referred to as anotia) to a somewhat normal but small ear.

Microtia Statistics:

• Nearly twice as frequent in males as in females
• Averages occurrence is 1 in 6,000 when averaged across all ethnic groups
• Approximately 60 % unilateral right, 30 % unilateral left, 10 % bilateral

photo available through the Creative
Commons license, courtesy of Wikipedia

What Adoptive Parents Say:
 Our 17 month old son, waiting in Wenzhou, has Unilateral Microtia/Atresia of his right
ear. I know what you must be feeling right now, because we had no idea what this
condition was when they called to tell us they had a file on a boy with an ear deformity.
We found out that we were only one of three families to accept his file for review out of
dozens. So many were not willing at all to take a look out of sheer fear, I'm sure....and
rightfully so. I became R&D queen and am so glad that we jumped in and asked a lot of
questions.

There are many things to consider with this condition, so I'll give you a quick summary
and a few links and I'll PM you. I will not be available to formulate a big fancy email
until this evening, but I am happy to provide you with everything I know from my "boot
camp" style research between receiving our son's file, consulting the IA Pediatrician, and
submitting our LOI. Please feel free to contact me via email or PM and I can expand on
anything or point you in the direction of some parents who are home with their kids and
"living the lifestyle". I'll post some now for anyone else who might be considering this
SN, so it's not all hidden behind PM.

Without any assumption of what you have already researched, first read the Wikipedia
entry linked below for Microtia. It gives a pretty good definition.

Our son has Grade 3, which leaves a "peanut" shaped cartilage and skin structure and is
the most common. Unilateral (one ear) is more common than Bilateral (both ears). There
are a few syndromes that can be involved due the possibility of involving other body
structures that develop at the same time as the ears. Most are visibly noticable (are
mentioned in the links) and can involve clefting of the lip and/or palate and the muscular
structure of the face on one side. You and your doc will know these right away from the
pictures you receive. However,there is the possibility of the kidneys and/or liver being
involved as they develop in the body at a similar time as ears. I can tell you that it would
be a shock if kidney or liver MRI were obtainable to learn more about this possibility
while she is still in China. There may be some red flags in her bloodwork, but for the
most part, you will have to wait until she's home to know if she has anything going on
with this syndrome. About 5% of microtia patients presenting no obvious physical
syndromes have kidney/liver involvement, if that is of comfort.

There is about a 5% chance of her passing it to a birth child, so the chances are very low
that she would pass on microtia to her future children.

As for surgery, there are several types of surgical procedures, which would happen over 3
to 5 phases (see the links below), but they can be done, typically between ages 5 and 8,
depending on her size. The surgical technology is facinating and amazing. She can end up
with an ear that grows with her, heals, and sustains impact. It's so cool. I can't speak to
how your insurance will cover, I'll go over our experience in my PM. I liked the idea that
we won't need to disrupt the bonding period to undergo surgery right when we get home.
Luckily, aside from some other doctor's appointments, we won't have to think about
surgery for the next few years. Children with Microtia are not in pain and, unless a
syndrome is involved, have not real impact from a developmental or cognitive level
(above and beyond what they are already going through).
I'll also go a bit more into Atresia, which is the malformation or absence of the ear canal
and internal ear structure. It is highly likely that this little girl has hearing in the affected
ear, but there is also a chance that she would need to have the ear drum and internal ear
bones reconstructed. Many children have almost perfect hearing with the use of a hearing
aid, while some kids do not. Some kids with unilateral do fine without, encountering only
issues with directional sound and clarity. Many kids adapt fine, since the other ear has
compensated since birth. Every case seems to be a little unique in it's specifics.

I would highly reccomend joining the two Yahoo groups listed below. One is more
medical and is a great resource for specialists and how families deal with microtia on
many levels. One is for adoption related topics with microtia. It's a bit quieter, but you
often get to follow blogs of families travelling to their child and once home, which I find
to be of the greatest value of all. When we received our son's file, I contacted everyone I
could from those lists and was amazed at how much information I received from parents
who had been right where we were...and had lots of info to share, good, bad, and
ugly...surprisingly, mostly good. Better than I could have expected.

Until I have a chance to PM you and compile some more detailed answers, please feel
free to visit our blog in my signature. There are pictures about half way down or so on the
main page (may be last month sometime, I can't remember) of our son Ian in his referral
photos. It shows his microtia and gives a little generic detail for our family and friends
who don't really need all the graphic bits.

Please contact me with a list of questions if you would like. I am also more than happy to
pass on our IA Pediatrician's info and what made us decide to send LOI for our son.

Microtia/Atresia info:

http://www.microtia.us.com/
http://www.microtia.net/
http://en.wikipedia.org/wiki/Microtia
http://www.microtia.com/

Yahoo Groups:
http://health.groups.yahoo.com/group/AtresiaMicrotia/
http://groups.yahoo.com/group/Atresia-Microtia-Adoption/
 I will just add that, for kids with unilateral hearing loss, they will need accomodations in
school due primarily to poor localization ability and difficulty listening in noisy
backgrounds. We do see very subtle academic delays in kids with unilateral hearing loss
if we don't stay on top of their management (preferential seating in school, sometimes
hearing aids or a microphone that the teacher wears to bring the signal closer to the child
with HL). Certainly, you will want to be careful about talking into the child's "good ear"
and about minimizing background noise when possible. A good pediatric audiologist can
advise you on these things.
In terms of syndromes that include microtia/atresia, they are fairly obvious (other than
BOR, which Steph mentioned already). Treacher Collins, Goldenhars, and hemifacial
microsomia are a few, and they all are characterized by facial assymetry, smaller lower
jaw, sometimes cleft palate, etc. Sometimes with BOR, there will be skins tags or pits on
the neck (it's called a branchial arch malformation). The outer ears are also formed from
the branchial arches in utero. It is possible that an outer ear malformation will be
associated with a cochlear (inner ear) disorder as well; sometimes normal cochlear
hearing will be established in China through a brainstem test, but often that testing has
not been done. A cochlear hearing loss is permanent and cannot be treated surgically,
even if the outer/middle ear can be repaired. With atresia, a "bone conduction" hearing or
brainstem test would need to be done to determine the status of the cochlea. A unilateral
hearing loss has minimal impact on speech and language acquisition, though. We see
slightly more impact if the loss is on the right side.

Two interesting facts are that microtia affects significantly more boys than girls and more
often affects the right ear.

G6PD deficiency
Glucose-6-phosphate dehydrogenase (G6PD) Deficiency

Overview

G6PD deficiency is an X-linked inherited blood disorder in which the body doesn‘t have enough
of the enzyme G6PD. This means that if a boy (XY) receives an X chromosome that is deficient,
he will have a significant G6PD deficiency. A girl (XX) can receive either one deficient X
chromosome, or two. This means that girls can have more varied levels of G6PD deficiency,
from non-symptomatic to highly deficient. Even some girls who are carriers (one good X and
one bad X) have been found to be symptomatic. Some females are more highly deficient than
expected, because they have one deficient X chromosome and a second mutated and/or damaged
X chromosome.

 This is the most common inherited enzyme defect in the world.
 With the right precautions, a child with G6PD deficiency can lead a healthy and active
life.
 G6PD deficiency is common in Guangdong, Taiwan, Guangxi and other parts of South
China. It is found in the Han, Zhuang, Li and Miao ethnic groups, as well as others.
 In China many of those affected with G6PD deficiency have less than 10% enzyme
activity, resulting in a high degree of sensitivity to oxidizing substances.
 Some of the G6PD variants result in chronic hemolytic anemia (CNSHA).
 G6PD deficiency is thought to be a defense against Malaria and occurs in the same
regions as the Thalassemias. A person can have both Thalassemia, major or trait and
G6PD deficiency.
 Tests for G6pd deficiency in boys are easily administered and reliable.
 Tests for G6pd deficiency in girls are difficult, expensive and often require genetic
analysis. However in China new more reliable, less expensive tests are being developed
to detect G6PD deficiency in girls.
 G6PD deficiency in women has been found to become more acute as they age.
 Those who are G6PD deficient are likely to have an increased risk of diabetes,
hypertension, sepsis and its complications and cataracts.

G6PD is required to neutralize oxidative substances in the body and metabolize carbohydrates
properly. Without enough G6PD, red blood cells begin to break down quickly. G6PD is
important for the life of all cells, cell growth and development. G6pd deficiency is not curable at
this time. The only treatment is avoidance of trigger substances and hospitalization and blood
transfusions in cases of extreme hemolysis (breakdown of red blood cells). Extreme haemolytic
episodes can result in renal failure and/or death.

Things to avoid

Each person, and each G6PD variant (approximately 400) can react differently to identified
trigger substances. There are however, accepted lists of substances that may need to be avoided.

These include:

1. NSAIDS (Asprin, Ibuprophen)
2. Tylenol
3. Quinolones
4. Drugs metabolized through the liver or known to cause blood or liver related problems or
hemolysis
5. Sulfa drugs
6. Petrochemically derived substances (This is a long list and gets longer every year. Many
artificial foods, dyes and vitamins are included in this list.)
7. Moth Balls and anything containing naphthalene.
8. Methylene and Toluidine blue
9. Legumes and their derivatives (for example: soy, peanut, beans, peas, licorice, food
thickeners and gums, MSG)
10. Other substances including blueberries, blue food coloring, tonic water/quinine, red wine,
sulfites, mothballs, and petroleum derived substances.
11. Illness / fever can also trigger G6PD symptoms.

Some G6PD deficient people try to reduce oxidative stress by ingesting antioxidants (w/o
blueberries or blue food coloring) and taking folic acid, in addition to avoiding trigger
substances.

Symptoms

Symptoms can be found in both those who have been diagnosed (boys and some girls) and those
who have not yet been diagnosed (esp. in girls from South China / SE Asia). Symptoms
generally occur within three days of exposure to triggering substance. Once the triggering
substance is removed or the illness resolved, the symptoms generally improve over a period of
weeks. Mild symptoms can be treated at home, more severe symptoms may require
hospitalization.

 paleness (in darker-skinned children paleness is sometimes best seen in the mouth,
especially on the lips or tongue)
 extreme tiredness
 rapid heartbeat
 rapid breathing or shortness of breath
 an enlarged spleen
 dark, tea-colored urine
 abdominal / back pain
 bruising
 fever
 weakness
 dizziness
 confusion

Classes of G6PD Enzyme Variants:

Level of
Classdeficiency Enzyme activity Prevalence
I Severe Chronic nonspherocytic hemolytic anemia Uncommon; occurs across
in the presence of normal erythrocyte populations
function
II Severe Less than 10 percent of normal Varies; more common in Asian
and Mediterranean populations
III Moderate 10 to 60 percent of normal 10 percent of black males in the
United States
IV Mild to none 60 to 150 percent of normal Rare
V None Greater than 150 percent of normal Rare

Adapted from AAFP.org

Resources
• www.g6pddeficiency.org
• www.rialto.com
• www.g6pd.org
• www.ghr.nlm.nih.gov
• www.nlm.nih.gov/medlineplus/ency/article/000528.htm
• memo.cgu.edu.tw/cgmj/2809/280902.pdf
• www.hkcpath.org/docs/Topical%20Update/Topical%20Update%20V2I1.pdf
• www.aafp.org/afp/2005/1001/p1277.html
• www.bioinf.org.uk/g6pd/
• Hirono A, Fujii H, Miwa S. Identification of two novel deletion mutations in glucose-6-
phosphate dehydrogenase gene causing hemolytic anemia. Blood 1995;85:1118-21.
• Mason PJ, Sonati MF, MacDonald D, et al. New glucose-6-phosphate dehydrogenase
mutations associated with chronic anemia. Blood 1995;85:1377-80.

Hemihypertrophy
Adapted from Dr. Green.com

Hemihypertrophy, also called hemihyperplasia, is a greater-than-normal asymmetry between the
right and left sides of the body. This difference can be in just one finger; just one limb; just the
face; or an entire half of the body, including half the brain, half the tongue and the internal
organs, or any variation in between. Someone with hemihypertrophy might have acne on only
one side of the face. The skin is often thicker, and there may be more hair on the head, on the
larger side. Rarely, children can have crossed hemihypertrophy (one leg and the opposite arm are
larger than their partners).

Theories abound as to the cause of hemihypertrophy - perhaps it is increased blood flow or
decreased lymph drainage, or nerve or hormone abnormalities. To date, not enough research has
been conducted to choose between the theories. We don't know the cause, but we do know that
hemihypertrophy is usually not inherited. People with hemihypertrophy can go on to have
healthy, normal children.

Hemolytic Anemia
Hemolytic Anemia adapted from National Heart Lung and Blood Institute

Hemolytic anemia is a rare form of anemia in which red blood cells are destroyed and removed
from the bloodstream before their usual lifespan is up. Healthy red blood cells usually live about
4 months in the bloodstream before the body removes them. In hemolytic anemia, the body
breaks down and removes red blood cells faster than it can replace them. The breakdown of red
blood cells is called hemolysis.

Hemolytic anemia is due to increased hemolysis (destruction) of red blood cells. The bone
marrow increases production of red blood cells to replace the hemolyzed blood cells, but it can‘t
produce them fast enough to meet the body‘s needs.

In some types of hemolytic anemia, the body makes abnormal red blood cells that break down
and hemolyze on their own. In other types of hemolytic anemia, the body‘s immune system,
infections, certain drugs, or other agents attack normal red blood cells, causing them to
hemolyze. The hemolysis can occur in the bloodstream or in an organ called the spleen.

The two main types of hemolytic anemia are inherited and acquired. In inherited hemolytic
anemia, the condition is passed from parent to child. In acquired hemolytic anemia, the person
develops the condition from some other cause. Hemolytic anemia can begin rapidly or come on
gradually and can range from mild to severe.

Hemolytic anemia can often be successfully treated or controlled. The course of hemolytic
anemia depends on the cause and the severity of the anemia. Mild hemolytic anemia may need
no treatment at all. Severe hemolytic anemia can be life threatening if it‘s not treated.

If you have an inherited form of hemolytic anemia, it‘s a lifelong condition that requires ongoing
treatment. If your anemia is caused by an infection or use of a particular medicine, the anemia
may go away when the infection is treated or when the medicine is stopped.

Hydrocephalus
Adapted from National Institute of Health

The term hydrocephalus is derived from the Greek words "hydro" meaning water and "cephalus"
meaning head. As the name implies, it is a condition in which the primary characteristic is
excessive accumulation of fluid in the brain. Although hydrocephalus was once known as "water
on the brain," the "water" is actually cerebrospinal fluid (CSF) — a clear fluid that surrounds the
brain and spinal cord. The excessive accumulation of CSF results in an abnormal widening of
spaces in the brain called ventricles. This widening creates potentially harmful pressure on the
tissues of the brain.

photo courtesy of Wen-Yan King on Flickr

The ventricular system is made up of four ventricles connected by narrow passages.. Normally,
CSF flows through the ventricles, exits into cisterns (closed spaces that serve as reservoirs) at the
base of the brain, bathes the surfaces of the brain and spinal cord, and then reabsorbs into the
bloodstream.

CSF has three important life-sustaining functions: 1) to keep the brain tissue buoyant, acting as a
cushion or "shock absorber"; 2) to act as the vehicle for delivering nutrients to the brain and
removing waste; and 3) to flow between the cranium and spine and compensate for changes in
intracranial blood volume (the amount of blood within the brain).

The balance between production and absorption of CSF is critically important. Because CSF is
made continuously, medical conditions that block its normal flow or absorption will result in an
over-accumulation of CSF. The resulting pressure of the fluid against brain tissue is what causes
hydrocephalus.

Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and
may be caused by either events or influences that occur during fetal development, or genetic
abnormalities. Acquired hydrocephalus develops at the time of birth or at some point afterward.
This type of hydrocephalus can affect individuals of all ages and may be caused by injury or
disease.

Neurofibromatosis
Adapted from The Children's Tumor Foundation

Neurofibromatosis encompasses a set of distinct genetic disorders that cause tumors to grow
along various types of nerves and, in addition, can affect the development of non-nervous tissues
such as bones and skin. Neurofibromatosis causes tumors to grow anywhere on or in the body.

Types Of Neurofibromatosis

Neurofibromatosis (NF) has been classified into three distinct types: NF1, NF2 and
Schwannomatosis.

Neurofibromatosis 1 (NF1): also known as von Recklinghausen NF or Peripheral NF.
Occurring in 1:3,000 births, web characterized by multiple cafe-au-lait spots and neurofibromas
on or under the skin. Enlargement and deformation of bones and curvature of the spine
(scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or
on the spinal cord. About 50% of people with NF also have learning disabilities.

Neurofibromatosis 2 (NF2): also known as Bilateral Acoustic NF (BAN), is much rarer
occurring in 1:25,000 births. NF2 is characterized by multiple tumors on the cranial and spinal
nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory
nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the
first symptom.

Schwannomatosis: a rare form of NF that has only recently been recognized and appears to
affect around 1:40,000 individuals. It is less well understood than NF1 and NF2, and features
may vary greatly between patients.
Polands Syndrome
Adapted from National Organization for Rare Disorders (NORD)

Poland Syndrome is a rare condition that is evident at birth (congenital). Associated features may
be extremely variable from case to case. However, it is classically characterized by absence
(aplasia) of chest wall muscles on one side of the body (unilateral) and abnormally short, webbed
fingers (symbrachydactyly) of the hand on the same side (ipsilateral).

In those with the condition, there is typically unilateral absence of the pectoralis minor and the
sternal or breastbone portion of the pectoralis major. The pectoralis minor is a thin, triangular
muscle of the upper chest wall; the pectoralis major is a large, fanlike muscle that covers most of
the upper, front part of the chest.

Affected individuals may have variable associated features, such as underdevelopment or
absence of one nipple (including the darkened area around the nipple) and/or patchy absence of
hair under the arm. In females, there may be underdevelopment or absence (aplasia) of one
breast and underlying tissues. In some cases, associated skeletal abnormalities may also be
present, such as underdevelopment or absence of upper ribs; elevation of the shoulder blade
(Sprengel deformity); and/or shortening of the arm, with underdevelopment of the forearm
bones.

Poland Syndrome affects males more commonly than females and most frequently involves the
right side of the body. The exact cause of the condition is unknown.

Sacrococcygeal Teratoma
Adapted from UCSF Children's Hospital and Children's Hospital of Wisconsin

Sacrococcygeal teratoma (SCT) is an unusual tumor that, in the newborn, is located at the base of
the tailbone (coccyx). This birth defect is more common in female than in male babies. Although
the tumors can grow very large, they are usually not malignant (that is, cancerous). They can
usually be cured by surgery after birth, but occasionally cause trouble before birth.

Most fetuses with sacrococcygeal teratoma do well with surgical treatment after birth. These
tumors are generally not malignant. Babies with small tumors that can be removed along with the
coccyx bone after birth can be expected to live normal lives, although they should be followed
for development of tumors later in life, using a simple blood test for alpha feta-protein. Fetuses
with larger tumors or tumors that go up inside the baby‘s abdomen will require more complex
surgery after birth, but in general do well. Again, they will have to be followed with blood tests
for several years. Fetuses with very large tumors, which can reach the size of the fetus itself,
pose a difficult problem both before and after birth.

The long-term prognosis for babies diagnosed prenatally with a SCT is excellent. An important
indicator of prognosis is the age at diagnosis and resection. Cystic tumors carry a better
prognosis also because they are less likely to hemorrhage or have heart failure complications
such as hydrops. There are risks that can compromise these babies before and after birth. The
two major complications that endanger these babies are difficulties with the resection and
hemorrhage of the tumor. With resection, it is recommended that the coccyx be removed along
with the SCT to prevent recurrence, the most likely complication. The risk of reoccurrence when
the coccyx is not removed is 35 to 40 percent.

The most severe risk of a Sacrcoccgyeal Teratoma is before or at birth. Once the tumor is
removed, prognosis is excellent. Ideally the coccyx bone was removed during surgery. If not, a
surgeon may want to remove it once the child is home. Since the mass is quite often large the
scar from teratoma removal may be large and is most likely in the tailbone area.
Spina Bifida
Adapted from Spina Bifida Association

Spina Bifida ~ Types

Occulta
Often called hidden Spina Bifida, the spinal cord and the nerves are usually normal and there is
no opening on the back. In this relatively harmless form of Spina Bifida, there is a small defect
or gap in a few of the small bones (vertebrae) that make up the spine.

There may be no motor or sensory impairments evident at birth. Subtle, progressive neurologic
deterioration often becomes evident in later childhood or adulthood.

In many instances, Spina Bifida Occulta is so mild that there is no disturbance of spinal function
at all. Occulta can be diagnosed at any age.

x-ray available through the Creative
Commons License, courtesy of Wikipedia

Meningocele
The protective coatings (meninges) come through the open part of the spine like a sac that is
pushed out. Cerebrospinal fluid is in the sac and there is usually no nerve damage. Individuals
may suffer minor disabilities. Additional problems can develop later in life.
diagram available through the Creative
Commons License, courtesy of Wikipedia

Myelomeningocele
This form of Spina Bifida occurs when the meninges (protective covering of the spinal cord) and
spinal nerves come through the open part of the spine. This is the most serious type of Spina
Bifida, which causes nerve damage and more severe disabilities.

Tethered Cord
Adapted from University of Missouri

Tethered Cord Syndrome

The spinal cord extends from the base of the brain through the boney spine to the lower back.
Soon after conception, special cells come together to form a tube that will become your baby's
spinal cord. If this tube does not completely close, the spinal cord can become tethered. The cord
is said to be "tethered" when it is abnormally attached within the boney spine.

There are two ways the spinal cord can become tethered.

 If your child was born with spina bifida (open spine) then the cord could become tethered
because of the scar tissue that resulted from surgically closing the spine at birth. This scar
tissue causes the cord to attach abnormally.
 The spinal cord can also become tethered with spina bifida occulta. This can occur
without visible outward signs although usually half the children have visible symptoms.

In both cases, the tube that forms the spine failed to completely close during pregnancy.This may
not be a problem until the child develops symptoms. Normally the spinal cord is able to move
freely when your child bends or stretches but when it is tethered, it is stretched, especially with
those movements. This abnormal stretching puts tension on the cord that can cause permanent
damage to the muscles and nerves that control the legs, feet, bowel and bladder. Early detection
and treatment is important to prevent this from occurring.
young child with a repaired tethered cord
photo courtesy of Tasty Crochet on flickr

Thalassemia
Adapted from Thalassemia.org

Thalassemia is the name of a group of genetic blood disorders. To understand how thalassemia
affects the human body, you must first understand a little about how blood is made.

Hemoglobin is the oxygen-carrying component of the red blood cells. It consists of two different
proteins, an alpha and a beta. If the body doesn't produce enough of either of these two proteins,
the red blood cells do not form properly and cannot carry sufficient oxygen. The result is anemia
that begins in early childhood and lasts throughout life.

Since thalassemia is not a single disorder but a group of related disorders that affect the human
body in similar ways, it is important to understand the differences between the various types of
thalassemia.

Alpha Thalassemia
People whose hemoglobin does not produce enough alpha protein have alpha thalassemia. It is
commonly found in Africa, the Middle East, India, Southeast Asia, southern China, and
occasionally the Mediterranean region.

There are four types of alpha thalassemia that range from mild to severe in their effect on the
body.

Silent Carrier State. This condition generally causes no health problems because the lack of
alpha protein is so small that the hemoglobin functions normally. It is called "silent carrier"
because of how difficult it is to detect. Silent carrier state is "diagnosed" by deduction when an
apparently normal individual has a child with hemoglobin H disease or alpha thalassemia trait.

Hemoglobin Constant Spring. This is an unusual form of Silent Carrier state that is caused by a
mutation of the alpha globin. It is called Constant Spring after the region of Jamaica in which it
was discovered. As in silent carrier state, an individual with this condition usually experiences no
related health problems.

Alpha Thalassemia Trait or Mild Alpha Thalassemia. In this condition, the lack of alpha protein
is somewhat greater. Patients with this condition have smaller red blood cells and a mild anemia,
although many patients do not experience symptoms. However, physicians often mistake mild
alpha thalassemia for iron deficiency anemia and prescribe iron supplements that have no effect
on the anemia.

Hemoglobin H Disease. In this condition, the lack of alpha protein is great enough to cause
severe anemia and serious health problems such as an enlarged spleen, bone deformities and
fatigue. It is named for the abnormal hemoglobin H (created by the remaining beta globin) that
destroys red blood cells.

Hemoglobin H-Constant Spring. This condition is more severe than hemoglobin H disease.
Individuals with this condition tend to have a more severe anemia and suffer more frequently
from enlargement of the spleen and viral infections.

Homozygous Constant Spring. This condition is a variation of hemoglobin H-Constant Spring
that occurs when two Constant Spring carriers pass their genes on to their child (as opposed to
hemoglobin H Constant Spring, in which one parent is a Constant Spring Carrier and the other a
carrier of alpha thalassemia trait). This condition is generally less severe than hemoglobin H
Constant Spring and more similar to hemoglobin H disease.

Hydrops Fetalis or Alpha Thalassemia Major. In this condition, there are no alpha genes in the
individual's DNA, which causes the gamma globins produced by the fetus to form an abnormal
hemoglobin called hemoglobin Barts. Most individuals with this condition die before or shortly
after birth. In some extremely rare cases where the condition is discovered before birth, in utero
blood transfusions have allowed the birth of children with hydrops fetalis who then require
lifelong blood transfusions and medical care.

Beta Thalassemia

People whose hemoglobin does not produce enough beta protein have beta thalassemia. It is
found in people of Mediterranean descent, such as Italians and Greeks, and is also found in the
Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.

There are three types of beta thalassemia that also range from mild to severe in their effect on the
body.
Thalassemia Minor or Thalassemia Trait. In this condition, the lack of beta protein is not great
enough to cause problems in the normal functioning of the hemoglobin. A person with this
condition simply carries the genetic trait for thalassemia and will usually experience no health
problems other than a possible mild anemia. As in mild alpha thalassemia, physicians often
mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-
deficiency anemia and incorrectly prescribe iron supplements.

Thalassemia Intermedia. In this condition the lack of beta protein in the hemoglobin is great
enough to cause a moderately severe anemia and significant health problems, including bone
deformities and enlargement of the spleen. However, there is a wide range in the clinical severity
of this condition, and the borderline between thalassemia intermedia and the most severe form,
thalassemia major, can be confusing. The deciding factor seems to be the amount of blood
transfusions required by the patient. The more dependent the patient is on blood transfusions, the
more likely he or she is to be classified as thalassemia major. Generally speaking, patients with
thalassemia intermedia need blood transfusions to improve their quality of life, but not in order
to survive.

Thalassemia Major or Cooley's Anemia. This is the most severe form of beta thalassemia in
which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that
requires regular blood transfusions and extensive ongoing medical care. These extensive,
lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to
prevent early death from organ failure.

Other Forms of Thalassemia

In addition to the alpha and beta thalassemias, there are other related disorders that occur when
the gene for alpha or beta thalassemia combines with an abnormal or mutant gene.

E Beta Thalassemia. Hemoglobin E is one of the most common abnormal hemoglobins. It is
usually found in people of Southeast Asian ancestry, such as Cambodians, Vietnamese and Thai.
When combined with beta thalassemia, hemoglobin E produces E beta thalassemia, a moderately
severe anemia which is similar in symptoms to beta thalassemia intermedia.

Sickle Beta Thalassemia. This condition is caused by a combination of beta thalassemia and
hemoglobin S, the abnormal hemoglobin found in people with sickle cell disease. It is commonly
found in people of Mediterranean ancestry, such as Italians, Greeks and Turks. The condition
varies according to the amount of normal beta globin produced by the beta gene. When no beta
globin is produced by the beta gene, the condition is almost identical with sickle cell disease. The
more beta globin produced by the beta gene, the less severe the condition.

What adoptive parents say:
Thalassemia – We adopted our son Aaron at age 3 (last April 2010). He has beta thalassemia
major, also called Cooley‘s Anemia. (In China this may be called thalassemia, b thalassemia,
thalassanemia, or Mediterranean Anemia. The term they use seems to have no connection to the
severity of the condition. ) Before I explain his form of thalassemia, I want to let people know
that I was very, very worried that this condition would dictate our lives/overwhelm us. It does
not. For basically 29 days each month we have a typical 4 year old child, and then the next day
we go to the hospital for 4-5 hours for a transfusion and then back to typical life. It is just part of
his life. Thalassemia is not a condition in which it is life threatening on any given day, as could
be the case with diabetes, asthma, or peanut allergy. It‘s not like that; instead it‘s about making
the best decisions and making sure we are compliant with his treatment schedule so that he will
be able to live the longest and healthiest life possible. We have found this condition to be very,
very manageable for us.
With my son‘s form of thalassemia, (which is the most severe), his bone marrow cannot make
healthy/functional red blood cells, so he lacks hemoglobin, which carries oxygen through one‘s
body. He survives by receiving a transfusion of red blood cells every 3 or 4 weeks (depending on
how quickly his hemoglobin drops). The transfusions supress his bone marrow from attempting
to produce the defective cells. Each transfusion brings iron into his body, which the body has no
way to get rid of. He must take a daily chelation medication (called Exjade, a pill which must be
dissolved in juice or water) to help his body get rid of the excess iron. The main cause of death
related to thalassemia has been cardiac arrest/heart attack due to iron depositing in the heart, and
life expectancy USED to be around 20 years of age. With compliance with daily chelation
medication, the goal is to keep the iron out of the organs. With the use of Exjade (came out
around 2005), the belief by doctors is that life expectancy should be comparable to any other
person without thalassemia. However, since it is a new medication and current thalassemia
patients have not been on it for too long, the data is not in yet. However, there are people living
into their 40s and 50s with thalassemia, and they did not have access to Exjade (they used an
infusion pump system with a medication called desferal). We take our son once a year for a
special MRI to determine the amount of iron in his liver (first organ to collect iron) and that is
what the dosage of his chelation medication is based on.
Some of the things to really consider if you are thinking about adopting a child with thalassemia:
- how close are you to a hospital? We live 20 min from one and that works great for us. You
would be going every 3-4 weeks for about 5 hours.
- can you take time off from work to take your child for a transfusion every 3-4 weeks?
- Do you have adequate health insurance, or is there a program in your state such as Children
With Special Health Needs that you could access?
- Can you bring your child to one of the 9 thalassemia treatment centers in the U.S. once a year
for a special MRI and a consultation with a thal. specialist?
I want to mention that we live in a small state. Our son is the only thal. patient at our hospital.
And yet, I know from our visit to a thal center and from talking to other parents with children
with this condition that my son is getting the same level of care as he would at a major thal
center!
I am absolutely happy to talk to anyone who wants to know more about thalassemia or put you in
touch with doctors who could review a file of a child with thalassemia. My personal email is
nwalsh528@yahooo.com We have found thalassemia so manageable that we hope to adopt
another child with thalassemia!

nicole1117 Says:
March 15th, 2011 at 11:11 am
More on Thalassemia –
I wish I had mentioned in my previous comment that there are many different forms and
severities of thalassemia. There are both alpha and beta thalassemias (neither is more severe than
the other). There is alpha trait/minor/carrier and beta trait/minor/carrier which is most likely not
an issue (child might be slightly anemic and this would not be helped by iron supplements; red
blood cells might be slightly smaller than typical but overall a nonissue), until of childbearing
years. If wanting to have biological children, they would be counseled to have genetic testing to
make sure the partner does not also carry the same trait (either beta or alpha). If the partner also
carried the trait, there would be a 1 in 4 chance with EVERY pregnancy of the baby having the
major form of thalassemia. There is alpha intermedia and beta intermedia, in which transfusions
are needed at some intervals (could be every 3 months, every 4 months, every 6 months, etc.) but
not at the frequence of major. There is the beta thalassemia major/Cooley‘s that my son has
which I commented on previously (regular transfusions every 3-4 weeks). In almost all cases,
fetuses with alpha thalassemia major do not survive a full pregnancy, so you would not see that
form of thal. on the Shared List. There are also many other forms such as Constant Springs,
Hemoglobin H, and others…
My advice would be to anyone considering a child with thalassemia (even if you believe the
child may have just the trait/minor form), is be prepared for a transfusion dependent form of
thalassemia. If when the child gets home, they do not need transfusions, great…but in my
opinion, better to be prepared and have a hematology team ready to treat your child, than to get
home and be emotionally floored to learn that your child has a transfusion dependent form. (Just
my opinion.) Many of the children on the Shared list with thalassemia (or Mediterranean
Anemia) do have gene tests in their files. My son did. It was clear he had the major form,
however, nowhere in his file was there any mention of being transfused. We assumed he was,
and this was confirmed with an update closer to travel, but others have not had this confirmed
until they were in China.
Also, I want to say that you don‘t have to live near some large special hospital. Any hospital with
a pediatric hematology (or hem/onc) clinic/provider will do! You would just need to be able to
get bloodwork and transfusions done, and have the provider prescribe the chelation medication.
Again, please contact me if you have any questions! nwalsh528@yahoo.com and my RQ Id is
nw030608 though I see when I just posted here on the RQ blog my ID comes up as nicole1117.
I‘m the same person!

Vision Issues
Strabismus (crossed eyes)

Strabismus is the condition where the eyes are misaligned. Different types of strabismus include
crossed eyes (esotropia, the most common type in children), out-turned eyes (exotropia), or
vertical misalignment (hyper or hypotropia). The problem may be present intermittently or
constantly. Treatment options depend upon the type of strabismus, and may include glasses,
prism lenses, and/or surgery.
To read more about strabismus, go here.

What Adoptive Parents Say:
 We adopted our daughter in January 2009. Her listed special needs were strabismus and a
developmental delay.

Determining the severity of the strabismus was impossible until she came home. We
requested information and received an update that said she she could see well. One of the
first activities we did with her in the hotel room, to break the ice, was playing with
bubbles. We were amazed as we watched her catch the bubbles on her wand. We could
tell that her vision did not seem to be limited by the strabismus.

I had already contacted a pediatric opthamologist before we traveled to China and
scheduled her first appointment that very first week home. His office had the equipment
necessary to evaluate her vision without any English.

She was immediately scheduled for surgery. However, the earliest available date for the
outpatient surgery at a local children‘s hospital with a Chinese translator was not until
April 2nd. So thankful that a friend had informed us of her right to have a translator
present! After her time in recovery we went home to spend that first day snuggled on the
sleeper sofa watching TV and videos in a dark room. It was tough to watch our child
struggle through the pain, but she recovered easily and well. The hardest part for her was
that her eyes were horribly bloodshot for more than a week and other children and church
and in her preschool were frightened of her.

At her first post-op visit, the doctor declared that she needed to wear prescription glasses
now. After about six weeks in the glasses, he decided that she needed another surgery.
(Forgot to mention that this doctor is great at surgery, but horrible with patients and
parents!) It was quite a shock for us that she would need another surgery. Even the
hospital nurses seemed surprised that she was having a second surgery so quickly.

On July 2, not even home six months, he performed another surgery. This time, she was
most upset that she couldn‘t go swimming post surgery. At her post-op visit, the doctor
declared that she no longer needed glasses.

We go back every six months to have her eyes examined. Right now she is doing great!
Perfect bilateral vision for her age. Now though, she wishes she could wear her cool
glasses. It was very hard to endure the surgeries, but they changed her world, her vision,
and the way the world sees her.

Speaking of how the world sees her…After meeting our daughter, we never saw evidence
of any delay. Even our guides in China were shocked at her ―developmentally delayed‖
label. She was smart, too smart! Sharing with other parents of Chinese children with
strabismus via the internet, I have become convinced that our stubborn, strong-willed
little girl was labeled with a delay merely because of her crossed-eyes. The notion that if
you look stupid you must be stupid. Sorry if that is offensive.
For our daughter, there has proven to be no delay. We held her back one year in school
just so her language and social skills could catch up. She is doing beautifully in school,
reading, writing, and speaking English.

after surgery; photo courtesy of
mmmmaaaayyyy on flickr

Amblyopia (lazy eye)

Amblyopia, commonly known as lazy eye, is the eye condition noted by reduced vision not
correctable by glasses or contact lenses and is not due to any eye disease. The brain, for some
reason, does not fully acknowledge the images seen by the amblyopic eye. This almost always
affects only one eye but may manifest with reduction of vision in both eyes. It is estimated that
three percent of children under six have some form of amblyopia.

What adoptive Parents say:

 We adopted NSN in 2007 (our third adoption) and DD had a surprise SN…exotropia
(wandering eye). It was fairly severe while in China (they eye would wander far to the
outside) but got better over the first week. By the time we were home, it was fairly stable,
maybe wandering onlly 30% of the time; it did not affect her vision (better than 20/20 in
each eye). She was monitored at the Cole Eye Center for over a year, no patching or
glasses, and it was finally determined that surgery would correct it best. The most
shocking was that in bright sunlight, the eye would wander so far to the outside that you
could not see the pupil.
Surgery was all of 20 minutes, followed by a few months of patching and prism glasses.
No loss of vision, excellent healing. I don‘t even know if wandering eye is a listed SN,
but hope this info can help. Big kudos to Cole Eye Center…awesome place and I met
many China adoptive kiddos in the waiting room there…some traveling from various
states to see the docs there!
Glaucoma

Glaucoma is a disease caused by increased intraocular pressure (IOP) resulting either from a
malformation or malfunction of the eye‘s drainage structures. Left untreated, an elevated IOP
causes irreversible damage the optic nerve and retinal fibers resulting in a progressive,
permanent loss of vision. However, early detection and treatment can slow, or even halt the
progression of the disease.

left: shows a normal range of vision,
unaffected by glaucoma
right: the same view with advanced vision loss from glaucoma
glaucoma diagram and above photos available through
the Creative Commons license, courtesy of Wikipedia

Cataracts

Congenital cataract is a lens opacity that is present at birth or shortly after birth.

Congenital cataracts may be sporadic, or they may be caused by chromosomal anomalies,
metabolic disease (eg, galactosemia), or intrauterine infection (eg, rubella) or other maternal
disease during pregnancy. Cataracts may be located in the center of the lens (nuclear), or they
may involve the lens material underneath the anterior or posterior lens capsule (subcapsular or
cortical). They may be unilateral or bilateral. They may not be noticed unless the red reflex is
checked or unless ophthalmoscopy is done at birth. As with other cataracts, the lens opacity
obscures vision. Cataracts may obscure the view of the optic disk and vessels and should always
be evaluated by an ophthalmologist.

Removal of a cataract within 17 wk after birth permits the development of vision and cortical
visual pathways. Cataracts are removed by aspirating them through a small incision. In many
children, an intraocular lens may be implanted. Postoperative visual correction with eyeglasses,
contact lenses, or both is usually required to achieve the best outcome.

After a unilateral cataract is removed, the quality of the image in the treated eye is inferior to that
of the other eye (assuming the other eye is normal). Because the better eye is preferred, the brain
suppresses the poorer-quality image, and amblyopia develops. Thus, effective amblyopia therapy
is necessary for the treated eye to develop normal sight. Some children are unable to attain good
visual acuity because of accompanying structural defects. In contrast, children with bilateral
cataract removal in which image quality is similar in both eyes more frequently develop equal
vision in both eyes.

Some cataracts are partial (posterior lenticonus) and opacify during the 1st decade of life. Eyes
with partial cataracts will have a better visual outcome.
What Adoptive Parents say:

 Our son was adopted at 35 months. His SN was listed as Congenital Cataracts. His
cataracts were removed in China at age 9 & 12 months respectively as he was sponsored
by China Care (I cannot say enough wonderful things about this organization). Our
surgeon here was very impressed with the surgery done in Beijing. The caveat being, as
soon as a cataract is removed, new lenses need to be implanted. This was not done in
China and he wore corrective lenses that make his eyesight worse, not better. As soon as
we were home, we started the process of having lenses implanted. Now, two years later,
he has excellent vision which is pretty miraculous given the 4 year wait between removal
and insertion of IOLs. We were told that he would never be able to drive as he was
legally blind but now, with correction (glasses now, contacts when he is older), he
actually has 20/15 vision in one eye and 20/40 in the other. My husband and I cried our
eyes out the day we learned our son would be able to drive one day. We are thrilled with
his progress. He also has Strabismus (cross eye) in one eye but that is controlled
somewhat by his glasses.

While his surgeries were not a walk in the park, they were certainly manageable. He had
to have eyedrops (hourly!) for a week and several times a day for about 6 weeks. And no
play. (explain that to a 4 year old – ha! – when he feels fine) He has absolutely no
restrictions now and is a joy!

His other physical needs (not listed in referral papers) have definitely been more of a
challenge. We believe he was in a less than stellar foster situation. He had severe scarring
on his ankles and wrists from being tied up. His genetalia had not been cared for at all
and he had to have an emergency circumcision 5 days after coming home. His foreskin
was fused shut and he was not able to urinate well. Had a severe bladder infection due to
that. We got that cleared up (that was much more traumatic than eye surgery) and the
dental work started. My precious son came home with a cavity in every tooth in his head.
We had to have 10 filled plus 4 crowns, under general anesthesia two different times. The
other cavities are small enough that we are monitoring them and hoping those teeth will
fall out before they need repair.

He had an extremely hard time with attachment – raged for hours at a time for the first 6
months home. He wanted nothing to do with me for 2-3 months (only Daddy) which was
awful, especially when Daddy went back to work after a week. It has been a very slow
process (and we are always working on it) but after two years he is firmly attached to us.
We did discover, after him being home for a year, that he has high functioning Autism.
So, the attachment issues had that component as well as Sensory issues.

This has become an epistle. I do not want to scare anyone but I do want all future parents
to go in with eyes WIDE open. What we thought would be an easy to ―fix‖ SN became so
much more. That being said, my son is the light of my life. It has not been an easy road,
but it has made us all so much stronger. Our son is precious, witty, oh so smart, and an
absolute delight. We cannot imagine our lives without him. With all we have been
through, I would do it all again, in a microsecond.
Hep B
Hepatitis B is a viral infection of the liver. Most of the time, adults who become infected with
hepatitis B recover fully after an illness that may be either very mild or very severe. Children
from areas where hepatitis B is common (Africa, Asia, and Eastern Europe) are frequently
infected with hepatitis B early in life when it is more likely that it will become a chronic
infection. Some chronically infected people will develop cirrhosis (liver scarring), liver failure,
or liver cancer from hepatitis B. They can also transmit the virus to others.

What tests should be done if my child was adopted from an area where hepatitis B is
common?
Families adopting children from areas where hepatitis B is common should have their children
tested as soon as possible after arrival in this country. Tests done in the country of origin may not
be reliable. Ideally, this would be done as part of a comprehensive evaluation by a clinic
specializing in the unique health needs of adopted children. Hepatitis B tests that might be done
include:

 Hepatitis B surface antigen (HBsAg) and hepatitis B "e" antigen (HBeAg)
If either of these is positive, the patient is infected.

 Hepatitis B surface antibody (anti-HBs or HBsAb)
If this is positive, the patient had hepatitis B in the past or was vaccinated.

 Hepatitis B core antibody (anti-HBc or HBcAb)
If this is positive, the patient has had exposure to the hepatitis B virus.

In some cases, another series of these tests six months later may be necessary to determine if the
patient is chronically infected.

Other tests that may be performed include tests for other hepatitis viruses, tests to determine the
degree of liver injury (liver enzymes), and tests of nutrition and liver function.

If my child has hepatitis B, what do we do next?
If a child is determined to be infected with hepatitis B (whether the infection is known to be
chronic or not), it is essential that any family members or friends (including children) with
intimate contact with the child be immunized against hepatitis B. This is especially urgent if the
infected child is less than one year of age. Even the best disease prevention measures may fail
when contact is close and loving. It is better to immunize these close contacts against hepatitis B
than to have them afraid to lavish affection on the child. Your child's physician can help you
decide who needs immunization. If an unimmunized person is exposed to blood infected with
hepatitis B virus, a physician should be notified immediately to initiate measures to prevent the
exposed individual from developing the disease.
Families adopting children from areas where hepatitis B is common should have their
children tested as soon as possible after arrival in this country.

Hepatitis B is transmitted via blood and body secretions (not urine or stool). Families need age-
appropriate counseling on prevention of disease transmission at the time of diagnosis and at
intervals throughout the child's life, with special emphasis on the risks of sexual transmission as
the child approaches adolescence.

If the child is found to be chronically infected, lifelong follow-up to detect the development of
liver disease is important.

Families should receive information on the expected course of the disease. This can usually
occur on routine annual visits to the child's physician. A child who already has significant liver
disease may need referral to a pediatric gastroenterologist to determine the degree of injury and
whether any treatment is indicated. There is no specific therapy that will "cure" hepatitis B.
Alpha-interferon and lamivudine are drugs used to suppress disease activity in some patients
with liver disease, but should only be administered after consultation with a pediatric
gastroenterologist. In addition, patients with severe liver disease should have aggressive
nutritional management tailored to the specific deficiencies that develop in patients with liver
disease.

Summary
Hepatitis B is a complex disease that raises problems for both the child and his or her family.
This article provides only an outline of the issues. Parents of children who are healthy but
chronically infected will need information and immunization, and their children will need good
medical follow-up. Children who have significant liver injury will also need careful medical
management. In short, prospective parents of children with hepatitis B should seek out health
care providers with expertise in this disease.

Resources for Parents

International Adoption Clinic (health professionals with expertise in medical problems unique
to children adopted from foreign countries): MMC21, 420 Delaware St. SE, Minneapolis, MN
55455, (612) 624-1164, www.peds.umn.edu/IAC

Pediatric Gastroenterology and Nutrition Division, University of Minnesota (physicians with
expertise in liver disease in children): MMC185, 420 Delaware St. SE, Minneapolis, MN 55455,
(612) 624-1133, www.peds.umn.edu/divisions/gi/default.htm

Parents of Kids with Infectious Diseases (PKIDS), (877) 557-5437, www.pkids.org

Immunization Action Coalition (IAC), www.immunize.org
What Adoptive Parents Say:
 My first bit of advice would be to have a chat with either your family doc or a
gastroenterologist / hepatologist (liver specialist) for more specific info on kids /
treatment availability in your area.

I'm not sure where you live, but Canada has treatments that can possibly cure chronic
hepatitis. However, the treatment is often worse than the disease so not everyone rushes
off to get the drugs. Generally, someone with chronic hepaitis has blood tests done
annually, if the liver numbers start to rise, then a liver biopsy is likely done. This is done
under local anesthetic - a needle is poked into the liver about an inch below one's right
ribcage in the front. If it shows enough inflammation to warrant treatment, then
treatment options are discussed. There are medications, both pills and injectible
medication (the patient gives themselves the shot in the tummy fat) that are usually taken
for a year. They can make adults really really really tired and many people can't work for
that year. BUT, the upshot is that there is a chance that the hep can be cured.

People usually have hepatitis for YEARS before the inflammation starts up. The reason
to try for a cure is that after YEARS of infection, inflammation can start and YEARS
more of inflammation can cause scars in the liver, called cirrhosis. YEARS of cirhosis
can (not always !!) lead to liver cancer. Hence all the excitement about hepatitis. Please
note all the YEARS and YEARS it would take to get to that point. Ten year olds don't
get liver cancer from chronic hep. 60+ year olds - maybe.

Most people with chronic hep don't even know they have it. A common symptom is
fatigue. Once diagnosed, people are told to avoid alcohol and medication that is hard on
the liver (ie, valium, etc). That generally keeps the liver happy. If liver numbers
increase, then it's biopsy time.

Family / household members are advised to get vaccinated against hep B if someone in
the home is diagnosed with hep B. It's spread by blood / sexual contact, but kids get
scrapes and cuts and most adults would just grab a kleenex to hold over a booboo until it
stops bleeding, but if the adult has a papercut on their hand, and the kiddies blood leaked
thru the kleenex...hence the hep B vaccine suggestion. A blood test can be done every
few years to gauge the families individual response to the vaccine to be sure they still
have enough and don't need a booster. The hep B vaccine seems to last a good 15 years.
Future sexual partners of the person with hep B would also need the vaccine to avoid
catching hep B.

I'd also advise the person with chronic hep B to try and avoid catching hep C on top of
the B !! Thus, avoid tatoos, IV drug use (heroin, etc) and bring your own tools to a
manicure appointment.

It would be prudent to also get the hep A vaccine, even if it isn't prevalent in your home
town (rare in North America) but there ARE pockets of outbreaks (we had one at a
supermarket awhile back - a worker with it was ill and stocked all the fruit without
washing his hands and it created a fair bit of excitement, mass vaccination program, etc
etc). Furthermore, hep A is in parts of Italy, Israel, the Carribean, etc so if the person
does any travelling, then it would be quite important.

I hope this helps start a conversation with your doc. Chronic hepatitis can be ....not fun,
but it certainly isn't a death sentance !!!!! Our local IVF clinic has a sperm washing
machine set aside for patients with hepatitis so other patients don't catch anything, but
also, patients with hepatitis who are trying to conceive are totally not barred from the
clinic !!!! Truly, most people with chronic hep don't even know they have it - they live
full lives, are active, have partners, start families, etc. The ones who've been diagnosed
have equally full lives - they just go to a liver doctor once a year.

Good luck.

Dr. MommaC
 Hepatitis B is very common in China with a prevalence of about 20% of the population
so the risks of transmission between mother to child are high. In the west we would give
antiviral therapy to the mothers and then once the baby is born give immunoglobulins
and vaccinate so the risk of them becoming chronic virus carriers is significantly reduced.

The child would be deemed as a chronic hepatitis B patients if they continue to be surface
antigen (HBsAG) positive for more than 6 months, so I am not sure how old the child is
or how often they have been tested?

As stated most children who become chronic hepatitis B patients do not present with any
disease related symptoms or illness until they are middle aged. Treatments are either with
a course of interferon or with long term antiviral medication. These are extremely good
and in some cases will allow the person to clear the virus completely. For others keeping
them on medications will keep the virus from replicating and reduce the risk of liver
cirrhosis and liver cancers. Also you need to remember that treatments in this disease are
improving all the time.

For most children they will not require treatment until they are adults so it is just a case of
monitoring the levels of viral replications, liver function tests ( simple blood work) and
ultrasounds. This is normally every 6-12 months depending on the results. Liver biopsies
are normally only done if there are abnormal liver function tests and high levels of virus.
But this will depend on the individual hepatologist.

All family members should be vaccinated as 95% of people can be successfully
vaccinated against the disease. Also there is just a need to be cautious for cuts/blood
spillages and for sharing razors/toothbrushes etc.

People with hepatitis B will lead a normal life. The treatments available these days are
excellent and continue to improve so that the chances of them sustaining any long term
health problems are small.