2013-02-20 14:49:06 by Anna Bell - Patient Family, as posted on the inside.akronchildrens.org blog.
Owen getting ready to take off!
This is a story of a remarkable child named Owen. He was born via planned C-section with no major complications at birth.
As the months flew by after his birth, I noticed Owen was not hitting his milestones. I enrolled him in every kind of therapy available: PT, OT, ST, you name it.
At age 2, he was still not talking, so he underwent a sleep study at a local hospital. This is when pieces of the puzzle started coming together.
We realized over the next six months Owen has intractable epilepsy and is allergic to ALL seizure medications. Once we got his body to not reject one, he began talking.
Also about this time, we realized Owen had a balanced translocation of chromosomes 2 and 5. We enrolled him in a Harvard study so they could further look into this genetic disorder.
Fast forward 2-and-a-half years, Owen still didn't sleep well, had cognitive impairments, PDD-NOS (pervasive developmental disorder), slow growth, and more items I'm sure I'm forgetting. We recently got the results back from the Harvard study – he has a mutation of 2q23.1...finally...an ANSWER!
He is vibrant, adorable, loving, and an absolute mess. While I know the future will be challenging, I have no doubt he will be just fine...in his own Owen kind of way.
Thanks for letting me give a glimpse inside our daily life, we are very thankful for Akron Children's for all the support they have given us over the years.
This Saturday we are having a global awareness day of this rare genetic disorder. Join the Facebook event page and learn more about the syndrome at www.2q23.org.
(8 a.m.-4:30 p.m.)
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