22Q AND RARE AND NOT SO

RARE NEWSLETTER
WITH THE 22Q INTERNATIONAL
FOUNDATION
www.22q.org
MARCH 2017 EDITION
FEATURING 22Q FAMILY FEATURING RARE
THE HEROES FOUNDATIO DISORDERS:
OF N PHELAN-MCDRID
RARE AND NOT
www.22qfa SYNDROME
SO RARE
GENETIC milyfoundat WWW.22Q13.ORG
SYNDROMES & ion.org
22Q11.2 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?We're 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.

www.22q13.org

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 on. 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 RARE

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."

22Q AND RARE AND NOT SO RARE

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
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 RARE

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/22q

or

3. 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.

Tennesse and Surrounding State Families: Join us at the

finish!!!