Wednesday, May 1, 2013

Genetic Testing update

I realized that I had not shared the latest information that I have received from Dr. Narayanan, Bryce and Annalise's neurologist.   This news came about two weeks ago.  First going back just a bit further since I can't remember if I shared this info here or not, a 6th gene mutation that causes AGS has been found.  When Dr. Narayanan met with John and I on a Saturday morning after sending this email to give us the updates on the genome sequencing to that point and explain things a little more, he told us that he had heard about this from Dr. Crow.  As soon as he found out about it, he quickly tested Bryce and Annalise for that mutation.  The test came back negative.  They do not have that mutation.  The other news that we received that day was that so far, all that has been found through the testing is that they do have the one mutation in SAMHD1 or AGS5, but nothing else has been found.  So, basically so far they have discovered what we already knew.  They will continue to search.

I received an email just a couple of weeks ago in which Dr. Narayanan told me that there at TGen where they are doing Bryce and Annalise's genome sequencing, they now have a small collection of AGS patients.  He went on to tell me that they have confirmed the genetic basis of the disease in all of the cases except for Annalise and Bryce.  He said that they will continue working to figure out what is going on with our children.  

1 comment:

Leslie Hersom said...

All of Avery's medical records and MRI screens have now been sent to Dr. N. Maybe she will be the third patient with no known genetic basis? and we continue to wait...