The story of Kari
Hi!! I’m 34 years old, Live in Nova Scotia, Canada and I am diagnosed with a rare neuro-ophthalmological disorder! I was diagnosed through genetics back in July of 2022. This is my story.
When I was born, I was born at a healthy weight, 5 days overdue! They noticed when I was born, I was blind. I was also shaking my head everytime I turned my head to the right. We still don’t know why that reason was, but I suspect it was due to my strabismus since I was born with strabismus. After a few weeks, I gained back some of my eyesight. I’m assuming because babies are born with unfocused vision, that may of been what happened with me. After a few weeks my head finally stopped shaking when I moved it to the right side, phew! At 3 months of age, I was registered with the CNIB (Canadian national institute for the blind) as low vision. I got my first pair of glasses at 1 and a half years old. I hit all the normal milestones at a regular age, except for walking. Due to balance, I did not walk independently until just a little over 2 years of age! Also, I was diagnosed at 2 with Retinitis Pigmentosa, which is a rare retinal disease! So, I’m walking, but with a gait. That, to my stepnan, didn’t add up. We didn’t think anything of it though since one of my cousins back in the 70s went blind, so we figured, okay she just has Retinitis Pigmentosa and is a little clumsy. No big deal. I did have speech therapy at 3 years old for 6 months due to having trouble pronouncing some letters right. Other then that, nothing really serious. I went to mainstream school and have had an itinerant teacher, from APSEA (school for blind/VI/deaf/HOH) who followed me from grade primary until I graduated high school. All was good. I did also have help with taking notes when I needed help, but that was only from grade school to the end of junior high. High school was a struggle, but thankfully most of my classes I had friends sitting near me who I could copy notes from! After high school was a bit of here and there, until in 2012 when I got out of my parents place. Stayed at a group home for 2 years, and then moved into a transitional group home in the summer of 2014. I lived there and learned more independence for 5 years before funding came through and i was able to get out on my own in 2019 with support staff coming 2 times a week. My story of genetics happens at the end of 2018.
In December of 2018, I switched to a different eye doctor due to reasons. I had a consultation appointment, and the doctors assistant, went over my vision, and he deemed me as not having Retinitis Pigmentosa, but having a rare connective tissue disorder called Stickler Syndrome. The reason being, because I had retinal detachments, which, don’t happen in Retinitis Pigmentosa. Okay, so now I was really confused. So, after all the Christmas fuss happened, and finding out about funding, and searching for an apartment, I went to my doctor and told her I wanted genetics testing done due to now having TWO clinically diagnosis. So my doctor sent in the request, and a few days before I had moved out, I got a letter confirming I was put on the wait list, which for where I live is a year and a half wait due to the hospital deals with all 4 Maritime provinces. Okay, that’s fine, that would bring me into the end of 2020, beginning of 2021. Well, it didn’t work that way thanks to Covid happening. But, I did manage to get a diagnosis for my right eye, which is chronic complex strabismus, so I was happy to have that figured out as to why my eye kept going off to the right on its own. That was in the fall of 2020. Finally, after waiting for almost 3 years, my day in the genetics office finally came! I had my first appointment in February, and they said I was a good candidate for testing. First we sent off a chromosome test, which didn’t really show anything that could help us, so the. We sent off the whole exons testing. We tested for connective tissue disorders, retinal dystrophies, and mitochondrial diseases! I wasn’t holding out much hope, but then the results finally came back in may of 2022 after 6 weeks! And then in July of 2022, I finally got the diagnosis I’ve been looking for! It wasn’t what anyone expected! A neuro-ophthalmologic disorder???? It made perfect sense though of how my gait and vision are connected!!
After years of thinking it was JUST a retinal dystrophy, the mystery was finally solved! I am glad that doctor ended up seeing that detachment and suspecting a different diagnosis, or I would have gone my whole life thinking my balance was just due to walking late and having turned in feet!!! I thank that doctor for misdiagnosing me! I call it a happy accident!
Thank you for reading my story, and I hope it helps you to seek out genetic counselling if you feel something is not right, or keep getting different diagnosis!!