2013-06-24 08:32:36 by Sarah Fister Brewer - Patient Family, as posted on the inside.akronchildrens.org blog.
My daughter, Madeline, was diagnosed by Dr. Debbie Holder with 2q23.1 at 8 years of age by but has had "special needs" since being diagnosed with Infantile Spasms (a seizure disorder) at 5 months of age.
Over the last number of years, I have wondered if her needs fit together as pieces of a larger puzzle and now we know! We are SO relieved to know her underlying condition.
I had a completely normal pregnancy with Madeline and she was born at 39 weeks, without complications. But she was a very ‘fussy’ baby, didn’t sleep much, and suffered from horrible acid reflux.
She was my first child, otherwise I would have noticed that her tone was low from birth. She started PT, OT, and speech therapy at 6 months of age and she’s been making steady (but slow) progress ever since.
Besides hyptonia, she has other things such as significant fine motor delays, sensory issues, and balance and coordination problems. She is completely nonverbal and uses PECS (picture exchange communication system) as a form of communication, which has been and continues to be her biggest struggle.
She has many similarities of other kiddos with 2q23.1, but this new label certainly isn’t defining WHO she is. Madeline is a sweet, spunky, funny child who just happens to have special needs. We are SO PROUD of every accomplishment, no matter how little it seems to the outside world.
Eight years ago, I looked at her needs first….now I see Madeline as an individual first and her needs second. It’s just a part of who she is, but it doesn’t rule her life.
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The great thing about Madeline being my oldest child (of 3) is that we didn’t know any better about development. We just kept pushing her to do things at her own pace and didn’t know what to expect; it was a blessing in disguise.
She does things at her own rate and although therapies have helped her, we realize that SHE has to be completely ready to make new developments or they aren’t going to happen.
I like to think we’re as "normal" as any other family – the kids love each other, argue with each other (yes, nonverbal kids CAN argue!!), and we have the same joys and struggles as any other family.
I hope as more people get diagnosed with this syndrome that it brings advancements to help Madeline be the best person that she can be!
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