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:
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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:
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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.
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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:
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small visual field through the bioptic telescope; ring scotoma causing a hazardous blind spot; vibration and speed blur;

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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:
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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 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 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 they did just get glasses to help w/ astigmatism, but so far they don't seem to notice that these glasses make a 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 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 people asking ...are they albinos too? syndromes....HPS is one sydrome Hermansky Pudlak 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 it can happen but it is very rare. more info... 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 biggie for us. unless you don't like the look of sunglasses and hats! -jelllo

Amniotic Band Syndrome
Adapted from (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:
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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

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.

Adapted from

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, 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 reopen 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

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:  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 preand 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: Yahoo Groups: 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.
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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.

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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. 2. 3. 4. NSAIDS (Asprin, Ibuprophen) Tylenol Quinolones 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.
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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 I Severe


Severe Moderate

Enzyme activity Chronic nonspherocytic hemolytic anemia in the presence of normal erythrocyte function Less than 10 percent of normal 10 to 60 percent of normal

Prevalence Uncommon; occurs across populations Varies; more common in Asian and Mediterranean populations 10 percent of black males in the United States Rare Rare

Mild to none 60 to 150 percent of normal None Greater than 150 percent of normal

Adapted from

Resources • • • • • • •

• • • Hirono A, Fujii H, Miwa S. Identification of two novel deletion mutations in glucose-6phosphate 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.

Adapted from Dr. 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.

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.

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

Adapted from 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 irondeficiency 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 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! 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


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 ageappropriate 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, 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, Parents of Kids with Infectious Diseases (PKIDS), (877) 557-5437, Immunization Action Coalition (IAC),

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.