Friday, May 13, 2011

More Answers which lead to More Questions

Ok, so more answers, more questions.  I heard from Dr. Narayanan today about the DNA results from the latest tests.  Bryce tested positive for the same mutated gene as they found in Annalise.  Ok, so it looks like it is AGS.  So then they tested my blood for the same gene...negative, I do not carry that mutated gene.  Tested John, positive... he does carry the mutated gene.  So...yes something is going on, but what.  Dr. Narayanan believes we are on the right track, but it just doesn't make sense to any of us.  If it truly is AGS5, that is causing this regression in Bryce and Annalise, they must have 2 mutated's an autosomal recessive disorder!  So where is the other one?  He said that if they can find the other mutated gene in one of the kids, then they could test me for that and probably make a connection.  But so far, nothing else is showing up.

The really odd thing to think is that this still could mean that John, Bryce, and Annalise are all just carriers of AGS and what they "have" is something totally different!  Honestly I doubt it , but who knows.  Although ,as odd and unrealistic as that seems, that actually is what would make the most sense when strictly looking at the results that we have found.  AUGH!  It's totally mind boggling.  Dr. Narayanan said that he isn't sure what the next move should be.  He is going to think on it for a couple of days, talk to others in the team, and get back to us.  All I know is that something strange is going on with my kiddos and I would really love to find out what it is.

1 comment:

Debbie said...

How nice and frustrating at the same time. It so good to hear that they are finally finding something! Hopefully this means that there are more answers on the way.