We haven’t gone into much detail on Clark’s eyes yet. But, considering it is believed to be related to his Dyskeratosis (DKC), I think this is relevant to the blog.
Shortly before Clark turned 1, Patrick notices that Clark’s left eye was looking ever so slightly outwards. Unfortunately we couldn’t just see an eye specialist when ever we feel necessary, we need to “follow protocol”. Thankfully our pediatrician referred us to an optometrist, even though he saw no such eye wandering. He actually said that the bridge of Clark’s nose was wide, making the wandering look like an illusion.
One optometrist, a pediatric optometrist, an ophthalmologist, a pediatric ophthalmologist and 2 pediatric retina specialists later…. And we find out that Clark has a torn retina. And within the time it took to move up the ladder of “specialists”, Clark went blind in his left eye. We were told that it might have been prevented if caught sooner. Unfortunately we acted as quickly as possible, but the “system” didn’t react with the same intensity.
I’m still learning about Clark’s eye. And for some reason, learning about blood conditions and Clark’s BMT seem to make more sense to me than understanding the eye. So, please bear with me as I try to explain.
From what the specialists could see, Clark has Exudative Retinopathy. He has many fibrous vessels in his eye (more than normal). They believe that a vessel burst, and caused a bruise. Normally a bruise would stop bleeding, and slowly dissipate. In Clark’s case, the bruise didn’t stop bleeding (possibly due to hemophilia OR low platelets). It caused a slight tear in his retina, and the blood pushed it inward. Unfortunately the retina detached right at Clark’s optic nerve, causing the blindness. If it has been anywhere else, it might have been easier to treat.
Exudative Retinopathy is a possible symptom for Clark’s specific Dyskeratosis, Called Rêves Syndrome found on the TINF2 gene. It is common to have it on just one eye. We are closely watching Clark’s right eye for wandering, to help prevent total blindness.
This brings us to Clark’s appointment! Clark finally met his new Ophthalmologist last week. He wanted to meet Clark, and make sure he wasn’t having any new vision problems. We were also assured that Clark is taking the correct eye drops daily. The good news is that Clark will be seeing a Pediatric Retina Specialist! These are hard to come by. We are scheduled to see him in 3 months, once the doctor’s paperwork is in order (he is moving here from London).
Clark now has glasses. Not prescription glasses, but safety glasses to protect his right eye. We were pretty hesitant at first, but after looking at MANY different styles, we finally found a pair that we think look adorable on him.
I am so sorry to hear about Clark’s left eye. My deepest hope is that his right eye remains unaffected. Very happy to hear that a Pediatric Retina Specialist will soon be on the scene. I love Clark’s new glasses, very stylish and he is so very handsome.
Hugs to Connor and Clark and Mom and Dad.