The House of Doo

The House of Doo

Tuesday, July 30, 2013

Geneticist Follow-up.

We went to the geneticist today to get the test results from our last visit.  The Fragile X test I mentioned was negative.  The micro-array analysis was basically a breakdown of Colt's genetic material.  It was mostly normal except for one part, where Colt has some extra genetic material.  I didn't really understand this, but there is one part where there are two strands and one of them was "diseased."  This isn't really that big of a deal, unless both parts are diseased.  It was kind of strange though because if both parts were diseased, it could cause respiratory disease in him.  We went to the pediatrician yesterday for this horrible cough that has been hanging around and he has bronchitis.  It kind of fit.  BUT, Dr. Stevens wasn't alarmed with that part.  So, we now have no answers.  Still 

Dr. Stevens said at the first visit she thought of something called "Sotos Syndrome."  She kind of mentally ruled it out though.  At the visit today, she told us she had been thinking about Colt yesterday and wanted to revisit the possibility of Sotos Syndrome.  It is basically an "overgrowth syndrome" where the child is much bigger than other kids his age, has developmental delays, vision problems, etc.  Colt fit many, however, he didn't have the facial features of one with Sotos.  This can happen sometimes, so today they drew blood to test for that.  We did a bad thing and Googled it, but for the most part, this seems to be the best scenario.  The one major scary thing with this one (and the doctor mentioned this) is that children with this syndrome are prone to cancerous tumors as children.  Bah.  So, now we can worry about that.  :/  We won't know the results for this test for at least a month because it is a little more in-depth, and the doctor will call us herself with the results. 

That is where we stand right now.  If this comes back negative, I think we are going to step back and let things go for a while.  See how he progresses and give ourselves a break.  I hate seeing Colt cry and not understand why we are holding him down AGAIN to let someone stab him with needles.  The older he gets, the more he understands and knows what is coming.  I can't handle it. 

Other than that, not much is going on.  Colt does have bronchitis again, for the third time this year.  He is on antibiotics to see how it responds.  If it responds, it is infectious bronchitis, if not, it is "reactive" bronchitis.  If it is this kind, he'll have to do long-term nebulizer treatments.  Bah.  Poor kid.  He hates the nebulizer.  It's worse than getting blood drawn! 

He is otherwise a very happy, beautiful child.  He is making improvements every day and we are so proud.  Please keep us (and our anxiety) in your prayers.  :)

 Bubble Pool!
 New haircut!
Beautiful boy.

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