Friday, February 6, 2009


Ben and I took Natalie home today.  She's been doing great, still eating well and acting fine.  She's not acting like she's too irritated and she's just taking tylenol.

The geneticist made time to meet with us today before Natalie was discharged.  They found a deletion on one of her chromosomes.  It's a deletion of the 6Q26 section.  It doesn't change much of what we're going to do with her, but we will be watching her for an increased chance of cancer because there's a gene that restricts cell reproduction in there, and she doesn't have that.  Or, I should say she does have that, but only on half of her DNA.  Ben googled around today and found this brochure from England which describes some things associated with this deletion, and a lot of things match Natalie's symptoms.  It touches on the enlarged ventricles, the underdeveloped corpus callosum and the tethered spinal cord and sacral dimple.  And it sounds like usually there's a pretty fair prognosis with this that ranges pretty similarly with most kids.  Some will walk early, some late, some will have difficulty learning, some won't.  That sounds like most kids... some are ahead and some are behind.

Ben and I each submitted blood today so they can look at our #6 chromosomes and see if either of us have this deletion and it just didn't do anything or if this is unique to Natalie.  Like I said, it doesn't really change our plan for her healthcare right now, it just gives us more information on other issues she may have and helps comfort us in knowing that there's nothing that Ben or I did to cause her issues.  

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