At William’s 4month well child check we were immediately sent over to a local ophthalmologist who said “your son is not blind in the sense that he cannot see light, but…,” six weeks later at the age of 5½ months the pediatric ophthalmologist gave us William’s diagnosis…Leber Congential Amaurosis (LCA). As soon as we heard the words LCA from the Doctor, we knew that our son would be blind and we didn’t think there would ever be a cure. Right after William’s 1st birthday, we received the definitive genetic diagnosis that William’s LCA was caused by the CRB1 gene mutation. Weston was born when William was 18months old and though he had the same chance of having LCA, he was not affected.
Of all the retinal degenerations, LCA has the earliest age of onset and can be the most severe. But there is hope, and we are trying to make it possible that William and others with CRB1 will not lose the rest of their sight. To be able to walk into a room and for your son to know that his Mommy/Daddy are there before we even speak a word seems impossible, but something that we long to give our son…the ability to see, beyond the shapes and shadows, to not lose the little bit of vision that he has…oh, they seem like impossible dreams, but dreams only come to reality by the hope and it is that hope that pushes us forward in this research. Thank you for supporting us and partnering with us!