Thursday, January 19, 2012

Alphabet Soup

So I have been contemplating all week just how to put into words our latest visit to Stanford.  I have feelings of relief, irritation and a little wondering when it comes to the next steps.  Dr. Lee-Messer did another Neuro work up on Jasz, which I guess needs to happen at regular intervals throughout his life.  Everything is about like the last time we saw him, so no new news there.

Since our last visit, He went over Jasz' genetics testing.  He found the addition on chromosome 16 is associated generally with Autism and learning disabilities.  Okay, but Jasz isn't showing signs of either at this point.  The deletion on Chromosome 15 is a little more interesting in that the specific deletion isn't near anything, but further along on that chromosome there are the genes associated with Mitochondria.  Though those were intact, one of his theories is that the missing piece on Jasz' chromosome may be the switch that turns those genes he may be missing the light switch. 

It had been a month since John and I had had our genetic test run, so we were surprised when he told us he had not received the results.  Well, they had received them, but no one had delivered them to the Dr.  Once he looked at those he discovered two interesting things.  John has the same addition of chromosome 16 and I also have a piece missing on chromosome 15, but not the same piece.  Interesting.  Makes you wonder what the combination of those mutations means...if anything.  Dr. Messer said it was all very interesting information, but not in the end that useful.  Listening, and later reading about the specific alterations in our genetic make-up had two effects.  I began to hear and after read them like a bowl of alphabet soup.  My brain was trying to make sense of these letters and numbers and there really is no sense to be made.  The second feeling I had is being vulnerable.  I know it may sound strange but, these people saw us to the core, they saw what we are made of.  It's like being stripped naked and then some.  Maybe others wouldn't feel that way but there was a part of me that did and still does.  Then being told it really didn't provide useful information after being told it was important we have this done, felt even more violating.  Don't get me wrong. Dr. Messer is a nice guy and I truly believe he was hoping for a magic answer out of that testing.  The effect is the same however.

Dr. Messer presented us with a neatly typed report from our first visit with him.  He outlined in detail for us his neurological and muscular findings of Jasz.  Then he laid out a step-by-step plan he wants to pursue....eventually.  You see, Jasz is doing AWESOME praise the Lord!!! In light of his forward progress and lack of regressions we are at a stand still with testing.  Eventually, some more blood work may need to be done, an MRI and a muscle biopsy.   But, until he goes backwards in progress those tests will not be as relevant.  Things won't really show up when he is doing well.  So we are in status quo mode and it feels good!!  We still will go back every 6 months for a neuro work up. 

The last thing he left us with was that he is referring us to another department at Stanford...the nuerogenetics department.  Apparently, they have specific expertise in Mitochondrial disease.  He wants to be sure that Jasz is on the right supplement and if he may need additional medications or different one's.  Since the Carnitine worked so well for Jasz it's not likely that will be changed, but they may add some CoEQ10.  You see he still has stamina problems and just plain gets tired fast.  So the Carnitine is helping with muscle strength but can do nothing for stamina.  Mitochondrial disease is a cellular disease and thus his cells need a little help regenerating energy.

We will trust in the Lord in this journey, we haven't been led astray yet.  I think at this point we have been given some breathing room and I'll take it!!

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