Leber’s Congenital Amaurosis
I was born with no vision. I was diagnosed with Leber’s Congenital Amaurosis, which is a disease of the retina caused by an autosomal recessive gene inherited from both parents. The condition is named after the German ophthalmologist Theodor Karl Gustav Leber (1840-1917), who published a paper on it in 1869. Having Leber’s made it necessary for me to have special schooling, which included learning Braille. I was home-schooled for two years after an unsuccessful stint in mainstream schools before moving to Canada, where I was turned away by a special blind school in my province of Ontario, though it was open to others. An LCA diagnosis does not guarantee you entry! I eventually found one mainstream school (with an enlightened Principal) in the GTA that would take me.
A great deal of research is going on into LCA on both sides of the Atlantic. At least 17 different genes have been identified as linked to the syndrome, which means that possible avenues for treatment need to be discovered in respect of whichever gene is the cause of blindness in each affected individual. In my case, the blindness is coupled with being on the autistic spectrum. A form of gene therapy has been tried with some success in respect of those whose Leber’s results from gene RPE65. My form of Leber’s is associated with gene GUCY2D, therapy for which is also being researched.
Having LCA has been limiting in some ways, but mostly because of public attitude towards it. I continue to value my contacts with other blind people and with those who continue to support me in my education and work. I am particularly grateful to charities like Balance for Blind Adults (https://www.balancefba.org/), the CNIB (https://www.cnib.ca/en?region=on) Alliance for the Education of Blind Canadians (http://www.blindcanadians.ca/) and the Canadian Council for the Blind, Toronto Visionaries Chapter (http://www.ccbtorontovisionaries.ca/)