Our journey started in September of 1988. Ashley was born and after a difficult few months was a mostly happy, always active, life of the party day and night baby! We were given her diagnosis of 11 p – deletion with Aniridia when she was only five months old. Not much was known about this diagnosis at that time. I was handed a photo copy page of a text book and were told, “These things can, could, or have a possibility of happening. We just don’t know.”
Upon receiving this diagnosis, I had many questions that I wanted answers to:
Is there a support group? “NO, and with only one child in a million being born with this deletion, there are not enough to have a support group.”
Have you ever seen another child with this? “NO, with only one child in a million being born with this deletion, there has never been a search for another one.”
Is there any more research than this page about this deletion? “NO, we cannot find enough individuals with this deletion to run a scientifically significant study.”
I must have won the genetic lottery that day because I had a child that was one in a million!
Fast forward to 2007, we found some other genetic lottery winners in the form of the IWSA. Multiple emails, questionnaires, and multiple tests at the NIH, Ashley finally received the diagnosis of having WAGR Syndrome and doors started to open. Then we get to attend our first WAGR Weekend in Bethesda, MD where we got to meet more one in a million children and their families. So now, I can go back to these doctors and tell them that YES, there is a support group. YES, I have seen and met and interacted with others with this deletion. And YES there is ongoing research for my child. We are ONE in a million!
International WAGR Syndrome Association
PO Box 2875
Montgomery Village, MD 20886