Thursday, 14 February 2013

Confirmed Genetic Testing

    The phone rang today like any other ring.  It was Dr. Sui from 'Genetics' at the hospital.  We haven't heard from her in a while.  The last time we talked she explained that once again the Ontario government didn't approve Jacob's DNA testing.  Their simple answer stated that PCH type 2 (Pontocerebellar Hypoplasia) genetic test had never been ordered in Ontario and they are no longer approving any new DNA testing.  We enquired if we could pay it ourselves and the government turned that down also (that involves a lengthy explanation, but let's just say the government made NO sense with the whole matter.)
    So when I picked up the phone and it was Dr. Sui, I was really puzzled as to why she was calling.  She told me that the funding was approved and Jacob's results have been returned.  What??!! We've only been wondering for 22 1/2 months what the results would show us.  I still have a rather large knot in the pit of my stomach.  Yes, Jacob does indeed have Pontocerebellar Hypoplasia Type 2.  I don't know what we ever wished for, but I still don't think I was ready to hear the conclusion of the testing.  Considering our other children had a 25% chance of also having PCH2, I'm thankful beyond belief that we have 3 healthy children.  

     In a way it makes things clearer, yet, on the other hand I didn't want to know.   That probably doesn't even make sense, but it comes with a whole mixed bag of emotions. 

    A tidbit of positive information; Jacob's lungs are clear :)  Totally unreal!!  Miracles still happen in 2013!  His breathing was much more regular today.   Hopefully this becomes the norm.  Talking with Lisa Pearlman  today, she  stated again the seriousness of this condition.  With the brain not signalling things correctly, it causes MANY abnormalities, with many of them being serious.

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