First a little background on a little known syndrome: 16p11.2. This is a depiction of the 16th chromosome. There two "arms" on each paired chromosome - the "p" arm and the "q" arm.
That is the official diagram explaining where the 11.2 gene section is located on the "p" arm - if you understand it -- then you certainly didn't need this kindergarten explanation - you can help me out with the explanation next time!!
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Anyway - since this genetic syndrom is so new - it is just called by it's deletion area for now: "16p11.2" - the 11.2 area of the p arm of the 16th chromosome is missing.
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There have been very few journal articles written on this deletion to date - although I am told by our genetic counselor that the lab is working on an article right now.
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So - to the reason I am blogging this evening!
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I spoke to a Mom today that has a 19 month old little boy that was diagnosed with the same syndrome! What are his symptoms?
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paralysed vocal cord - so does Amie
speech delay - so does Amie
feeding difficulties & on thickeners - Amie just got off of thickeners in October!
difficulty with growth - so does Amie
heart defect - so does Amie (although his is a different defect)
sensory issues - his are more pronounced than Amie's (she gets scared easily)
reflux (gerd) - so does Amie
some tone issues - Amie is under-developed on her upper body - his is more one sided over the other
spina-bifida occulta - as far as we know Amie does not have this (Tim does though - weird huh!)
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I am going to send her a letter - her family is really struggling financially with all of the medical and therapy issues that they are dealing with - so please put little "JD" in your thoughts and prayers!
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