The darkness of possibilities
Tuesday, January 21, 2020 By Sam Briggs.
The following week we headed back to Sick Kids to discuss the cause of Nolan’s blindness and a treatment plan, if anything at all. We spoke with a genetics counsellor who informed us both his retinas were detached and three possible conditions were the cause: Bilateral PRFV, and two genetic conditions, FEVR and Norrie Disease (the worst among the three). We went through with genetic testing not knowing what to think, let alone what to ask. Our world was turned upside down, as were spoke to various professionals my mind was an empty void that only had a flashing sign stating, “he’s blind”. We waited all day to speak to the retina specialist who gave us a pitiful amount of his time as he was coming from the Operating Room and heading straight back. He stated that based on Nolan’s test results, it was looking very severe and the latest test he took suggested that he was not responding to light. Our baby went from reacting to flashes and sunlight to being completely blacked out. I wanted to scream and tear down the room, but I gently sobbed instead. In addition, this doctor stated that he believes Nolan has Norrie Disease which is very rare to get any form of vision, but light perception may be the best outcome. How could it be that he has the worst of all three? I felt myself slip away as each visit, each test, turned out to be the worst of all scenarios. We were given a 50/50 chance following surgery, at the time we had no idea what that meant but knew he deserved a chance.
We drove home in silence as we let our thoughts and fears consume us. We told ourselves we wouldn’t research the disease as we weren’t certain but we both caved in the early morning. This very rare disease that affects roughly 0.001% of the population is horrendous as the mutated cells hinders proper development of blood vessels. To our horrific surprise, this genetic disease isn’t just isolated to the eyes, it is also linked to hearing loss, cognitive/behavioural disabilities, intellectual delays among other things. As if it wasn’t enough for Nolan to overcome the challenges of blindness but there is an array of other worries that go along with it. Nolan will, along with other people with this disease, undergo multiple surgeries as he grows due to the leaky blood vessels that will ultimately pull at the retinas causing frequent detachments.