Latest on 15q13.3 Microduplication Syndrome

Har har har.

Har har har.

Every now and then I peruse the web looking for any new info about Dean’s chromosome disorder (15q13.3 microduplication syndrome…he has an extra piece of genetic material on chromosome 15 which he inherited from me. Yay good parenting, giving your kid a disorder!).

This article came up, it was released in December 2013. Unique is one of two major worldwide organizations that tracks all things genetics. They’re like the CIA of chromosome disorders.

I found a few things interesting. Our geneticist had said that seizures weren’t common for this disorder, but it looks like they are (I think we’re lucky in that it hasn’t happened…yet…to my son). Feeding and sleep disturbances I already knew about, but there’s a small section about frustration and anxiety being an issue with individuals who have this.

I can’t tell you how frustrated my son gets with things. I mean, abnormally so. Most kids if they drop something or fail, they just pick it back up and keep going. Not my son. If he stumbles at doing anything, he immediately yells and cries that he can’t do it. This morning I opened the front door slightly for him and told him to open the door, after barely giving any pull he started crying that he couldn’t do it. It’s like that all. the. time.

Another interesting thing is that this actual disorder wasn’t discovered until 2009, my son was born in 2010. If we had kids say, 5 years ago, would my son just have had a diagnosis of autism and that would be it?

Science is the shiz.

3 thoughts on “Latest on 15q13.3 Microduplication Syndrome

  1. thanks for sharing. as both a medical professional and a new parent i think it is so important to be aware of new research coming out! can i ask, when was your son diagnosed, and what prompted the testing? i don’t know much about the subject except that autism is so prevelant and scares me to no end, but i wonder if in the future more genes will be linked to ASD. very interesting.

    • He had massive developmental delays, the neurologist was just going to put an “autism” label on it but said that since my son looked SO vastly different from me (and somewhat my husband) that it was possibly genetic. Which is thus ironic that it turns out, this IS the one thing he got from me :P

  2. My son has the same duplication 15q13.3. He too get extremely frustrated! We found out when he was just 3 months old. He is now 2 and takes the “terrible two’s” to a whole new level! I was hoping you could tell me what the name of your fb group is so that I could join.

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