Genetic Testing Results, etc.

Genetic Testing
This is quite an overdue blog post.  I updated everyone on Facebook but not on the blog - so sorry.  The end of October we received the genetic testing results and Alex has a mutation in the PAX6 gene, but no deletions or duplications noted in the PAX6, DCDC1, ELP4 or WT1 genes.  The mutation in the PAX6 gene only means he has isolated Aniridia and not WAGR.  WAGR would be deletions/mutations in PAX6 and WT1.  There is some debate whether or not to continue the renal ultrasounds.  This is something we are still thinking through.  Here is the link to a website outlining the genetic testing.

Governor Morehead Preschool
This past week Alex was evaluated for the Governor Morehead Preschool.  We are really exited to work with the teachers at the preschool for vision training.  I think the best thing is that they visit you in your home or child care facility to find the best ways to help develop the child's eyesight. 

Duke Eye Center
We have a follow up appointment with the Duke Eye Center today to monitor for glaucoma and cataracts.  Here's a picture of Alex after his first Ped Op visit.  I will make sure to take a picture of him at this visit - he is so much bigger now!

First trip to Duke

Yesterday we took our first trip to the Duke Eye Center where we met with a Genetic Counselor to discuss Aniridia and the possibility of WAGR syndrome.   The Genetic Counselor provided a wonderful article on the genetics of Aniridia and WAGR syndrome.  The article is a bit technical, but I thought it provided a lot of information.  Here is the link: http://www.ncbi.nlm.nih.gov/books/nbk1360/

We elected to have genetic testing performed and Alex’s blood was drawn to send to a lab in Maryland.  The results will take 4-8 weeks.    We are praying that Alex does not have WAGR syndrome.  

We look forward to meeting the Pediatric Ophthalmologist at the appointment on September 28.  Everyone we met at Duke yesterday was very nice and helpful.  Alex received a handmade crocheted blanket donated by a woman that makes blankets for babies at the hospital.  It is navy blue with different colors and textures of yarn in each square.