ASHER Syndrome, no longer unnamed
Its been so long since I have actually completed an article to publish in this blog. I have written and rewritten so many times, never being able to complete a full thought. This blog started out as a way to find answers for my son's unnamed disease, "the first person to be identified with a neurodegenerative disease that has only been identified in dogs," was what our Genetics clinic had told us. We were also told we had a better chance of winning the lottery than to have married someone else with a genetic mutation on this gene and therefore finding interest would be very difficult, maybe impossible. Asher was 4 years old. So long story short this blog was started and a friend of a friend of a friend, read my cry for help and passed it on to a colleague at the NIH. With the assistance of our Genetics Clinic here, and several emails and using the UDN; we were able to go to the NIH out in Maryland and spend a very long, grueling but important week collecting data. The