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Meet Madeline: 2q23.1 Microdeletion Syndrome: Raising awareness for rare chromosome disorder

Madeline

Madeline

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.

2q23.1 Microdeletion Awareness Day

Click to join the Facebook event.

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!

This Saturday we are having a global awareness day of this rare genetic disorder. Learn more about it at www.2q23.org.

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Comments

  1. Thanks for the awareness!  I had never heard of this disease before I saw a link on facebook.  Your daughter sounds like a sweetie and she is lucky to have you as a parent.  Good luck to your family! 

  2. r8519w@comcast.net' Renae Jean Williams says:

    Parents with kids with this condition please contact me as I just found out 2 of my kids have the same syndrome and Dr.’s are trying to use my kids to learn from as they are in therapy and school and making progress on their own pace. I would like to learn more than I already found out and Dr.’;s don’t have any answers. I want her to be able to sleep more than 4hours a night and Dr.’s also recommend adderal for the add symptom to help her concentrate more which is fine, my son is on it and does great. I would just like to get in touch with other moms out there.~
    Renae Williams~Maryland

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