Thursday, February 2, 2012


About every 4-6 weeks, I do a Google search on "4Q chromosome duplication" or "Trisomy 4Q".  I'm looking for anything new--maybe a research article by a geneticist or a blog post by a parent of a 4Q child.  I haven't found much new, past the first few searches I did almost 2 years ago.  No sign of new cases like Matthew's. As far as we know, Matthew is still 1 of 2 in the world with his diagnosis.  I've looked at the 4Q chromosome genetic map, researching each of the known genes that reside on the area of the chromosome that Matthew has duplicated.  I'm armed with lots of information, but none of this has made any difference.  Matthew is who he is, with the genetics that he has, writing his own story.  

Last night, as I was re-reading some of the articles I had read almost 2 years ago, I was moved to tears.  The medical research indicates that the larger the duplication, the more severe the symptoms.   Matthew has one of the largest known duplications of 4q.  But he is defying the research--he is doing so well!  His journey hasn't be an easy one. He has to work very hard for little gains. He catches seemingly every bug.  But he is almost walking, he's almost talking, he signs, he eats on his own, he crawls, he plays, and he laughs.  Well beyond what I would expect from reading the research.  Our sweet baby Matthew continues to defy the odds.  Thanks be to God!
Our sweet baby Matthew.

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