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Ohdo Syndrome
by Rachel Nichols
Spencer has Ohdo Syndrome. More specifically, Spencer has the Say Barber Biesecker
Young Simpson type of Ohdo Syndrome along with Genitopatellar Syndrome. When we
had Spencer, our lives turned upside down. Before he was born, I had visions of him
playing soccer and T-ball. He would geek out over Transformers and Star Wars with his
dad. He was going to have lots of friends and be popular at school. He was going to be
the perfect child. Here’s how things turned out.
Ohdo Syndrome
Ohdo Syndrome is incredibly rare. There are probably around 100 known cases in the
world. Before Spencer, none of our top-notch medical team had heard of it. Ohdo
Syndrome is a de novo genetic syndrome, meaning it was not inherited from his dad and
me, and is caused by a series of additions and deletions on gene KAT6B, chromosome
10q22.2.
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Basically, Ohdo Syndrome causes heart defects, blepharophimosis and ptosis (eye
droop), hypothyroidism, intellectual delay, speech delay, feeding problems, hypotonia,
hearing loss, muscle contractures, and it has very distinct facial features. Some kids, like
Spencer, have a cleft palate, airway malformations, and small jaws. Kids with Ohdo also
have very large thumbs and big toes, which are the more amusing features.
Effects of Ohdo Syndrome on Spencer
Ohdo Syndrome has caused Spencer to have intellectual and physical delays, hearing
loss, heart disease, malformation of his airway, cleft palate, small jaw, ptosis,
hypothyroidism, hypotonia and hypertonia, and limited use of his hands. He has sensory
integration disorder, is non-verbal, and cannot walk. He is an awesome crawler and
loves his wheelchair. He has a feeding tube that he was completely dependent on until
about six months ago. He has made great process with his eating, but still has a hard time
chewing, which is common in kids with Ohdo Syndrome. His complex airway made him
dependent on supplemental oxygen constantly until six months and at night until a year
old.
Spencer also has the mutation for Genitopatellar Syndrome, which is on the same part of
the gene. Keep in mind, not all kids with Ohdo Syndrome have Genitopatellar
Syndrome, although there is some debate whether it is a separate syndrome or not.
Anyhow, because he falls on the Genitopatellar end of the spectrum, he also has a
clubbed foot, neurogenic bladder, and nerve damage from a tethered spinal cord.
Spencer has had over two dozen surgical procedures, and has a few more that will need to
be performed in the future. Ohdo Syndrome has wreaked havoc on his little body, and he
has had to have a lot of repair work done. He had to wear tubes in his tear ducts for over
a year due to the crazy face anatomy Ohdo Syndrome dealt him. He had an eyelid lift
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that will require revisions as he gets older. He had his cleft palate repaired and adenoids
removed. He’s had several urological surgeries and needs at least a couple more. He
had spine surgery. He will have heart surgery next year. He’ll probably need some more
leg surgery as he gets older. He has scars.
Diagnosis
We didn’t know any of Spencer’s medical issues, aside from his clubbed foot, before he
was born. He was a day old when the pediatrician took one look at him and sent him to a
large, regional children’s hospital. He spent 83 days in the NICU, was looked at by
dozens of doctors, but yet none of the doctors had any idea what was going on with him.
They knew it was something genetic due to his unusual facial appearance and other
anomalies, called dysmorphic markers. He passed all his genetic tests and had the
genetics team baffled.
Spencer was around six months old when our geneticist started to finally sort out
Spencer’s diagnosis. His facial features were starting to become very distinct and the
doctor had seen them once before. Spencer was two and a half when the gene for Ohdo
Syndrome was discovered and children with it could be diagnosed. Our geneticist pulled
some strings and was able to get Spencer tested before the tests were clinically available.
He was diagnosed with Say Barber Biesecker Young Simpson type Ohdo Syndrome on
April 4, 2012.
Our New Normal
Life with a kid like Spencer has been interesting. Life with Spencer is our normal and I
can’t imagine what our lives would be like if Spencer had been born typical. It has been
an incredible journey and I have met many amazing people along the way. Yeah, we
replaced soccer practice with physical therapy, and T-ball with occupational therapy. He
still geeks out over Transformers with his dad and sleeps with a light saber in his bed at
night. He has tons of friends and is the most popular kid in his class. Most of all,
Spencer is perfect.
Ohdo-isms
From the parents I’ve met, our kids with Ohdo Syndrome are a lot alike. Here is a list of
some of the great things about having a kid with Ohdo Syndrome:
 Ohdo Syndrome causes very distinct facial features, so a lot of kids with Ohdo
Syndrome look alike. Spencer has “twins” all over the world!
 Our kids have giant thumbs that are great for sucking on.
 Ohdo Syndrome causes grow retardation. Spencer is wearing his winter clothes
from last year this year. They are cheap on clothes.
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 Parents of kids with Ohdo Syndrome have an increased medical vernacular, which
is great for intimidating people.
 Ohdo Syndrome is so rare that when you meet someone new on Facebook who
has a loved one with it you get excited. We have friends from all over the world!
 Kids with Ohdo Syndrome have speech delays. While it can be frustrating,
having a non-verbal kid has it perks. It’s pretty quiet around our house.
 Every inchstone our kids achieve is a reason to celebrate!
 Our kids have this uncanny ability to make people around them smile. The cutest
thing I have ever seen, ever, is a kid with Ohdo Syndrome singing and dancing to
“Gangnam Style.”
 I don’t have to worry about Spencer marrying the wrong girl. He is already
betrothed to Caoimhe, a girl with Ohdo Syndrome who lives across the ocean
from us. Her mother and I have decided they are going to get married and give us
cute little Ohdo Syndrome grandbabies.
 Our kids are incredibly special and unique. There aren’t words to describe how
quirky and beautiful Spencer is. There is something amazingly special and
collectively unique about our kids that all of us parents of kids with Ohdo
Syndrome see and it’s the most brilliant thing.
 Our kids have Ohdo Syndrome, not Ohio , Ohdi, or Otto Syndrome (common
errors). Ohdo Syndrome does not have them. Our kids rock their gene mutations.
Families dealing with Ohdo Syndrome are welcome to join the Ohdo Syndrome Facebook
Group at https://www.facebook.com/groups/117748568297590/.
Rachel Nichols is Spencer’s minion. She lives in Ashland, Kentucky with her husband
Jimmy, son Spencer, and daughter Quinn. You can follow their journey, Joining the
Club Foot Club, at http://talipesbaby.blogspot.com/.