22Q AND RARE AND NOT SO

RARE NEWSLETTER

WITH THE 22Q INTERNATIONAL

FOUNDATION
www.22q.org
MARCH 2017 EDITION
22Q AND RARE AND NOT SO
RARE NEWSLETTER
22Q AND RARE AND NOT SO
RARE NEWSLETTER
 Reflection
On the road, we walk each day we can know we
dont walk alone.
We are all in this together, young and old, rich and
poor.
This newsletter is providing a space to give
encouragement in good times and difficult ones.
Let us know if this resonates with you.
Write and tell us your dreams.

Write to:
raredisorders@yahoo.com

Irish Blessing at the end.

 THE 22Q INTERNATIONAL
FOUNDATION
www.22q.org
MARCH 2017 EDITION
FEATURING 22Q FEATURING RARE
THE HEROES FAMILY DISORDERS:
OF FOUNDATI PHELAN-MCDRID
RARE AND ON SYNDROME
NOT SO RARE www.22qf WWW.22Q13.ORG
GENETIC amilyfoun
SYNDROMES dation.org PHELAN LUCKY

PHELAN-MCDRID SYNDROME
FOUNDATION

www.22q13.org
22Q AND RARE AND NOT SO
RARE
FEATURING RARE SYNDROME:

What is Phelan-McDermid Syndrome?

Phelan-McDermid Syndrome, sometimes called 22q13 Deletion Syndrome, is a genetic condition caused by the deletion of the
Terminal end of chromosome 22 or mutation of the SHANK3 gene. In most cases, the condition is not inherited, but results from a
de novo (spontaneous) mutation.
What is the SHANK3 gene?
SHANK3 structurally supports synapses, the communication hubs between neurons. It gives instructions for making a protein
(PROSAP2) that facilitates neuronal communication. The SHANK3 protein also helps create dendrites, which are specialized
extensions from neurons that are essential for the transmission of nerve impulses.
How does the deletion happen?
The deletion can result from a simple break in the chromosome, an unbalanced translocation, a ring chromosome, or other
structural changes involving chromosome 22.
Unbalanced translocation? Ring chromosome?
An unbalanced translocation occurs when a piece of one chromosome breaks off and reattaches to another chromosome.
A ring chromosome is caused when the two ends of a chromosome fuse together, creating a circle.
What are the core features of PMS?
The most common characteristics found in those with PMS are intellectual disability of varying degrees, delayed or absent speech,
symptoms of autism spectrum disorder, low muscle tone, motor delays and epilepsy.
Are all cases of PMS the same?
Deletion sizes, SHANK3 gene mutations and the clinical features of Phelan-McDermid Syndrome are all highly variable. Nonetheless,
studies suggest that individuals with larger deletions are more likely than those with smaller deletions to have characteristic
body features, neonatal hypotonia, neonatal feeding problems, atypical reflexes and greater delays in meeting developmental
milestones
How are cases of PMS diagnosed?
Chromosomal microarray (including array comparative genomic hybridization [CGH] and SNP microarray), is the most common
method for diagnosing Phelan-McDermid Syndrome. Fluorescence in situ hybridization (FISH) or chromosome analysis may detect
larger deletions and are necessary to identify translocations and ring chromosomes. If a diagnosis of Phelan-McDermid Syndrome
is suspected, but no deletion of 22q13 is detected through microarray, targeted DNA sequencing may detect mutations of the
SHANK3 gene.
Whats needed for testing?
Deletions, rings, translocations and mutations can be detected from blood samples as well as from skin cells or cells used for prenatal testing.
How many cases of PMS are there? Were not sure and we don't have a reliable estimate. There are cases that we don't know about or
that have not been diagnosed using the most sophisticated chromosomal testing.
Taken From The Phelan - Mcdrid Syndrome Foundation.
22Q AND RARE AND NOT SO
RARE

ANNABETHS STORY
PRAYERS FOR ANNABETH

The moment she was born, she wasn't breathing correctly. They said she had premature lungs.
From there they noticed that some of her organs had not developed and her eyes would not open.
She was transported to Blair E. Batson Children's Hospital and was admitted into the NICU. My
heart sank further than I could have ever imagined! When we got the the childrens hospital the
next day, things were not any better. They told us she needed surgery to make a colostomy on her
side due to her organs not developing and would later require a reconstruction surgery to fix the
organs. There went surgery number 1. They told us she needed a genetic microarray of her
chromosomes because of all the things that were wrong with her. My heart sank a little deeper. A
few days later the ophthalmologist delivered the news that our baby girl was blind and would
never see because her eyes did not form correctly. The audiologist had stressed his concern that
she had failed 3 hearing tests and that she may be deaf as well, but they would follow that more
later. Our hearts broke knowing our baby girl would never see us and not knowing if she would
ever hear our voices. We leaned on GOD and begged for the strength to face these problems.
These problems were not all that was to come. We went through invasive testing and the genetics
counselor informed us that our baby girl had 2 rare conditions one being a lot more rare than the
other. On that day Annabeth was diagnosed with Cat eye Syndrome, which had taken her
eyesight and caused her organs not to develop and it gave her a bicuspid valve problem and a
hole in her heart. She is a miracle from GOD! She was also diagnosed with the very rare
condition of Phelan McDermid Syndrome, which at the time we did not see the effects but the
effects have made themselves known now. After weeks of trying to feed by a bottle, Annabeth
had a swallow study and it was determined that she was aspirating on her feedings.
They told us that she needed a gastrostomy tube put into her stomach so she could eat without
choking. There was surgery number 2. Over the course of a week Annabeth started vomiting
constantly. The doctors came to us once again and said she needs surgery to put in a Nissen
Fundoplication which would prevent her from throwing up or burping. So exactly one week from
the day she had the g-tube, we were back in surgery again. By the grace of GOD all surgeries
were a success. We were released from the hospital on February 4th, 2016, the day before her
daddy's birthday, which was a great present for him. During our time outside the hospital, GOD
blessed us with finding out that our baby girl could hear. Her surgery unit did a check up and she
was healing perfect, but she had to be scheduled for an anesthesia MRI to make sure her female
organs were intact and the organ reconstruction wouldn't have to be larger than they had planned
for. Then Annabeth started experiencing constant breathing problems where she would stop
breathing and she started freezing in position for periods of time. On February 23rd, 2016, we
were admitted back to the Blair E. Batson Children's Hospital. Over the course of our 10 day
stay, they had to do multiple EEGs and diagnosed chronic seizures which stemmed from the
Phelan Mcdermid Syndrome. She was also diagnosed with central apnea and possibly
obstructive apnea. We got it under control and was released with an appointment for sleep apnea
test. While awaiting the results of the sleep test, Annabeth went for her pelvic MRI and by
GOD's grace all of her female organs were in place but the doctor had to admit her into the
hospital because she had trouble breathing coming off of anesthesia. We were released the next
day and we went home to be with our family. A few days player the pulmonologist and her ENT
specialists call with The sleep test results and it showed that Annabeth was obstructing when she
breathed. They scheduled a bronchoscopy for the next week but that appointment came sooner
than expected. On Wednesday March 30th, 2016, we went to Rush Hospital Emergency room
because Annabeth was having trouble breathing and her seizures were getting worse. They went
to do a chest X-ray but Annabeth started turning blue and her sats dropped. The doctor had her
flight lifted back to Blair E. Batson children's hospital. Once again our hearts sank. Her ENT
specialist did the bronchoscopy and determined that her throat was collapsing every time she
tried to breath. He and his team and a surgeon all agreed that it is best if she has the Mandibular
Distraction Osteogenesis. The surgeon will not be in town for a week so they put in a temporary
airway to help her breath, but it has actually made things a little worse. She is now throwing up
again which means that the nissen has come loose and will possibly have to be fixed before her
jaw surgery. We have spent most of Annabeths life, but GOD has kept his hand on her through
it all.
22Q AND RARE AND NOT SO
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FEATURING NOT SO RARE:

22Q11.2
www.22Q.org

My name is Kristina Buchholz,

I am twenty seven years old and currently a student in college majoring in psychology. The
road to unusual medical issues started when I was born with early feeding issues, where I
turned blue in my face which fortunately fixed itself as I got older. I was constantly sick as a
child in and out of be hospital, a very weak immune system. I eventually had to have two
sets of tubes put into my ears due to countless ear infections. Life went on and the health
issues continued .. School was difficult as I had learning disabilities in both reading and
math but had tutors all throughout my life and got extra help from my teachers which
seemed to help. It wasn't until I was twelve years old the health issues started to get intense
with no explanation. I was at a baton twirling competition with my team in Orlando, FL where
I had my first Grand Mal seizure, I was taken to the hospital immediately by ambulance
where they started running tests, the feats kept coming back that my calcium wouldn't go up
into the normal range. As my levels still wouldn't go up it started to affect my heart therefore
resulted in transferring me to another hospital into their intensive care unit yet running more
tests, where they finally diagnosed me with Hypoparathyroidism and Hypocalcemia; which
was the cause of this first grand Mal seizure. Finally, able, to go home and went about my
normal lifestyle, school, sports etc... Two years later to the exact day my second grand Mal
seizure occurred this one without any rhyme or reason to the cause; just a week in the
hospital running more tests. It wasn't until I was fifteen years old and my third grand Mal
seizure a doctor on staff at Boca Raton Regional Hospital looked at my medical
history and said "I know this will be unlikely but based on her medical history she
may have DiGeorge Syndrome." The tests came back positive therefore at fifteen
years old diagnosing me with DiGeorge syndrome. After the diagnosis life was still
fairly easy high school wasn't too bad I continued to struggle with math and reading but
never let it stop me and I continued to play sports. My list of illnesses is a page long and
seems to be continuously growing which always keeps my family and I on our toes.
Through everything my faith and trust in our awesome God is my center and the reason I
am here able to share my story. Whenever I share my story I will always say "my health is
the greatest CHALLENGE in my life but it's also the greatest BLESSING in my life." I never
would have thought that my health could take me across the country inspiring and giving
hope to others just as I am inspired by my amazing family and friends who are incredible
supporters of this journey and walk it with us! Today, my faith and relationship with God
seem to be always tested and my health issues seem never ending. Some challenges more
difficult than others but none are impossible!! These 22q warriors inspire me more than they
will ever know. If I'm afraid about an upcoming test (I used to have a fear of the MRI
machines) but I prayed before and after and before going in for testing I would say to myself
"if these 22q warriors can face what they have to face at their young age, then I can do
this."

I am currently one of the baton twirling coach for the Anchoretettes, involved with my
churches youth groups, I also get blessed with the opportunities to travel the country share
my 22q journey and meet so many amazing 22q families which is honestly one of my
favorite things to do!! Whenever I meet your amazing kiddos I ask them what their dreams
are and I'm simply amazed and I tell them never to give up, and to always reach for the
impossible!
If you would like to learn more about my journey or have any questions you are more than
welcome to email me at
kristinabuchholz@hotmail.com
Kristina Buchholz

KRISTINA AND TEAM

 Mark your Calendars for the Seventh Annual 22q at
the Zoo for
Sunday May 21st, 2017
Organized and developed by The International 22q11.2 Foundation, 22q at the Zoo is
an event that gives families, friends and professionals a chance to socialize, network
and raise the public profile of chromosome 22q11.2 syndromes.Volunteers spread
awareness by handing out our 22q fact sheets and educating anyone interested enough
to stop and ask about 22q. The event kicks off in New Zealand and continues westward
ending in the South Pacific having literally circled the globe. Participants are
recognizable, wearing the official 22q at the Zoo red T-shirt and Ask me about 22q
buttons.Check out pictures from past events and stay up-to-date on the latest news by
checking out our Facebook page!For ticket information click on your local city or
region. If there is no further information regarding ticket sales please contact the
designated coordinator for your city or region.

www.22q.org
22Q AND RARE AND NOT SO
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THE 22 Q FAMILY FOUNDATION:

www.22qfamilyfoundation.org

OUR STORY
In every conceivable manner, the family is link to our past, bridge to our future. -Alex Haley

The above quote perfectly encapsulates where we come from and what we hope to be for the 22q
community. Our link to the past is our connection to The Dempster Family Foundation. Prior to
the creation of our organization, we, like many of you, received support, guidance and a sense of
togetherness from DFF. Their ideals of creating a community of those with shared experiences
and raising awareness to better the lives of everyone affected by the disorder are something that
we intend to continue as we grow. We are going to maintain and build upon many of the
programs that many of us within the 22q community have come to rely on such as the 22q
Education Station, the 22q Mystery Tour, and more. Our bridge to the future is that we intend to
create new ways to connect members of our community, as well as work to make sure 22q11.2
Deletion Syndrome becomes a household name. It was important to us to keep the word
"Family" in the name of the organization because we hope to become a part of yours'. This is
your organization. Therefore, we welcome feedback, input and ideas so that we can be the most
effective for the 22q Family. We appreciate the opportunity to serve you all and to help take the
mystery out of 22q!

WHAT IS 22Q?
"The most common 'rare' syndrome you've never heard of." -
Michelle Breedlove Sells
22q11.2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS),
and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd
chromosome. This tiny missing portion of chromosome 22 can affect every system in the
human body. 22q can be the cause of nearly 200 mild to serious health and developmental
issues in children. It is often times not diagnosed or recognized as the cause of a child's
health and/or developmental issues for years. It is believed to be the second most common
genetic disorder behind Down's Syndrome, yet most have never heard of it! Because each
person diagnosed with 22q presents a unique set of the possible 180+ symptoms, it is
difficult for even the best doctors to recogonize. Many times, this scattered collection of
issues impedes the proper diagnosis for years. This knowledge has yet to catch up to the
general public or health care professionals. This leads many to believe the 1 in 2000 to
4000 estimated number of children born each year with 22q, is likely a gross
underestimation of the actual numbers.
You may be surprised to learn that the issues most commonly linked to 22q are among some
of the most commonly recognized health issues for newborns and children worldwide. This
list includes but is not limited to the following: growth delays, feeding problems, congenital
heart disease, gastrointestinal difficulties, serious breathing concerns, cleft and craniofacial
issues, calcium deficiencies, immune deficiencies, kidney problems, and skeletal anomalies.
This list also includes the possibility of speech, developmental and cognitive delays, as well
as ADHD, Autism and many anxiety-type disorders. Early diagnosis of 22q deletion
syndrome is the key to properly addressing all 180 issues which can be associated with the
disorder.

22q doesn't run our lives...We Run 22q!

In October 2015, 12 strangers, united by their connection to the 22q11.2 Deletion Syndrome,
teamed up to run 206 miles over 36 hours in a Ragnar Race all to raise awareness and funding
for 22q! Due to the excitement and overwhelming success of that initial race, competing in a
Ragnar Race has become an annual awareness and fundraising event for The 22q Family
Foundation. Led by our own Katie Chiet, each year we will select a different location each year
and invite the 22q community to participate in different ways!

Want to be a part of our team? Start training now and contact Katie
at werun22q@gmail.com to be entered into the runner selection lottery! (Note: Each team
member is responsible for paying their portion of the entry fee and travel/food/etc. expenses
related to the trip)
Want to honor somone along our route? In 2015, each of the 206 miles was
dedicated to a different person affected by 22q. Commit to raising just $100 to support your mile
(that's asking just 10 people to give $10) and you can be added to our vans and runners bibs. It's
an absolute honor to get to run for each and every one of them and it certainly helped motivate us
when the weather turned south, the hours got long, and our legs got tired! Send us an email with
the person you wish to honor and their photo. Once we have the list filled, you will receive your
mile number, runner, and an image to use on social media!
Not a runner, but still want to help? We will be in need of volunteers, support
along the route and at the finish line, and help spreading the word on social media! Let us know
if you'd like to help us in any way!
Not ready for a Ragnar? We Run 22q isn't just for the Ragnar Race. If you are
participating in a local 5k, marathon or other type of race, you can be a part of Team We Run
22q. Commit to raising funds for The 22q Family Foundation, and we will provide you with a
training plan and a custom shirt for your race!

22Q AND RARE AND NOT SO

RARE

#WERUN22Q RAGNAR
NASHVILLE
2nd Annual Ragnar Race
Nashville, Tennessee
Join us for our Second Annual Ragnar Race
on March 24-25 in Tennessee. This year
12 runners will take on 190+ miles racing from
Chattanooga to Nashville in honor of your 22q
loved one. All proceeds of the race will benefit
The 22q Family Foundation in helping continue
 Education Station and other programs.

A gift of $50 will sponsor your loved one for one mile of the race.
A gift of $75 will sponsor your loved one for one mile of the race and our
signature "q" decal.
A gift of $125 will sponsor your loved one for one mile of the race, our
signature "q" decal for your car, and an official race t-shirt.
Donating is Easy!
1. Text 22q to 71777
or
2. Donate here: http://igfn.us/vf/22qor Click on the link above and create your own
fundraising page! Share our link with your friends and family to help you. Fundraise yourself
and your 22q loved one will get a mile run in their honor.
22Q AND RARE AND NOT SO
RARE NEWSLETTER
RAYMOND TANNER'S FAMILY &
STORY 22Q11.2 ADVOCATE RAISING
AWARENESS FOR 22Q11.2
RAYMOND TANNERs STORY
My name is Raymond & I was born in Preston, a suburb of
Melbourne Victoria (Australia). My start in life was a difficult
one as I was born three months prematurely. My problems
related to eating & to breathing difficulties.

SCHOOL

My school life was a daily struggle in Primary and High school.

I was bullied on a daily basis and the other students didnt
accept me as an equal. However, I did have a few friends that
did support me. Besides being bullied, I was not a very good
student and I was definitely hopeless in math etc.
WORK
When I started work, I realized that school wasnt so bad after
all. Work colleagues would call me various names etc, due to
the way I looked and the way I spoke.

As a result, to the consistent bullying, in November

1969, I attempted suicide.

As a result of my suicide attempt I was referred to a

plastic surgeon who advised me that nothing could
be done to the way I looked, however he could fix my
cleft palate. I was to learn later that the operation
was not a very good one, and a major plastic surgeon
in Adelaide advised me that it needed to be repaired
again. At the time when my second operation was
done, I was in my 40s.

MARRIED LIFE

In 1982, while on a camping holiday in Tasmania, I

met a wonderful woman, Ruth. She accepted me as
an equal and she communicated to me instead of
talking down to me. In 1983 we were married in
Adelaide South Australia. We have now been married
for 33 years.
TRIBULATIONS DURING OUR MARRIED LIFE
TRIALS AND.
Our married life wasnt to be an easy one. When we
purchased our house, we were hit by high interest
rates, around 18 percent. We nearly lost our home,
however in 1990 I got retrenched from the Australian
Public Service and I was able to pay our house off.
CHILDREN
CLAIRE

In July 1984 our first child was born. Our

daughter Claire is an incredible young lady and
she is also a wonderful mother to her four
children and a wonderful wife to her husband
Carl.

JAMES
However, in October 1986 we had a baby boy
come into our world. James unfortunately was
born with a complex heart and other medical
issues. James only lived for nine days however he
is an important part of my life. The worst part
about James short life is that he was born

two days before my birthday. A

photo of James October 1986
A photo of James a day before he
died

ANDREW

Our 2nd son Andrew was born in January 1988 and my

wife and I were to face many other pressures as a result.
Andrew was born with two holes in the heart and as the
heart operations were not done in Adelaide we had to fly
to Melbourne. We also had to fly on Australia Day which
was a public holiday in Australia. During surgery though,
Andrew suffered a stroke, which caused him to become
Intellectually Disabled
FINDING OUT THAT I HAD VELO CARDIO FACIAL
SYNDROME

When Andrew was 5, we were advised that we

should see a Genetic Counsellor at the Adelaide
Womens and Childrens Hospital. When we got
there I was to learn that I had Velo Cardio Facial
syndrome and this was a huge shock for me. At
the time I was 43 years of age. It was confirmed
that Andrew had the syndrome as well. We were
also told that it was most likely that James also
had VCFS.

ANDREW INCREDIBLE JOURNEY THROUGH RIDING

FOR THE DISABLED
When Andrew was 8 we were told by his speech
therapist that we should take him to Riding for the
Disabled so that he could learn to ride horses and also
to meet other people. We took the advice and what a
journey Andrew has had. In 2010, RDA joined with
Special Olympics South Australia and Andrew excelled in
the competitions. In 2014 Andrew was selected as the
first male equestrian competitor with the Australian
Special Olympics team. In 2015 Andrew and the team
went to the SO World Games in Los Angeles and he had
a great time. Andrew was also successful in winning a
Gold and Bronze medal. With that in mind, Andrew is the
first equestrian to win a Gold medal. Also , Andrews
other sporting achievements have been in Ten Pin
Bowling and also with his cricket team When Andrew
was 16 , his team won the under 16 cricket final , and
Andrew also won a trophy , for the most improved
player.
Andrew riding Vedar at the Special
Olympics World Games 2015 he won a
Gold Medal in this event
 Andrew with his Gold and Bronze medal
plus his ribbon for coming 4th

VELO CARDIO FACIAL SYNDROME ADVOCACY

In 2002, my wife and I were to find out that James heart

and brain were removed for research without our
permission. Many families were affected by this horrible
practice and they sued the South Australia State
Government. However, my wife and I didnt sue as we
couldnt see the benefit from it. We did however give our
approval for his heart to be used for research; however,
his brain was medically disposed of.
 As a result of finding out about James, I decided to write a
book about my experiences in having VCFS and other
family stories. My book was called Footprints of Hope and
the footprints on the cover of the book are James
footprints. Unfortunately, my book is no longer in print.
at conferences in Atlanta USA, Strasbourg France and
Brisbane Australia. In addition, I also spoke at various VCFS
Queensland Balls which my wife and I enjoyed very much, At
one particular Ball, I even got a standing ovation, which I was
a real surprise. Also, I appeared on Australias ABC 7.30
Report to promote the 2002 VCFS Foundation Queensland
Conference.

PERSONAL ACHIEVEMENTS

While my life has been hard, I however had many

achievements. First of all, marrying my wife. To me, Ruth is an
Angel on earth. She has given me inspiration and respect that
I hadnt had previously.
Having two wonderful children, who have shown me the
importance of life. Also having four wonderful grandchildren
who have given me a new lease in life.
Obtaining a tertiary degree in Operations and Logistics at the
University of South Australia; as an adult student. As I was a
poor student, this was a huge achievement.
For a number of years, I was also a Church organist. This was
an incredible experience as I was self-taught. In addition, I
was tone deaf. My playing was not necessary the best,
however I was able to ensure that there was some music
being played.
Also, I was able to get my drivers license.
CONCLUSION
 Many of us who have been diagnosed with having VCFS face
many challengers. I for one have faced different types of
situations due to the way I look and the way I spoke.
Fortunately, in Australia people seem to be accepting me for
who I am, a few years ago this would not have happened. I
have enjoyed my advocacy work in promoting VCFS (also
known as Di George and 22q11.2 DS) awareness and these
days I am enjoying life.
A photo of me at a Wine Club Function 2015

Me speaking at a VCFSEF Conference in

Brisbane Australia in 2006
 THANK YOU MR. RAYMOND
TANNER
AND FAMILY FOR ALL YOU HAVE
DONE
AND ARE DOING IN THE
SUPPORT OF 22Q11.