Andrew’s story – only by getting advice did I know the full picture

As part of National Eye Health Week 2022, we asked people to tell us their stories about eye health and the importance eye health tests and eye health awareness more generally.

This is Andrew’s story

“Just after leaving university, I decided to find out about my eye condition. My family was told when I was four that I would never have useful vision and that I’d have all sorts of access needs through education and beyond. This wasn’t wrong, but it meant I reached eighteen knowing nothing about my condition and why I had certain symptoms. In special education, I just accepted zero knowledge in tandem with almost zero vision like so many others.

“I had no curiosity, until I hit adulthood and started spotting inconsistencies in what doctors had told us and even with what was on my records.

“My first discovery in consultation one was that my family had very muddled facts. Relatives always told me my optic nerves were the problem, when in fact I have a retinal condition, often just called LCA. The L in this title stands for Lebers, the name of the person who discovered it. Unfortunately, this person’s name is attached to more than one condition and down the years specialists had muddled these up while talking to my parents. They in turn were more bothered about practicalities to be that bothered – for them, I was blind for good and the reasons why understandably didn’t matter as much.

“We didn’t quite have the wrong diagnosis, the right information was there somewhere, but fudged and buried in nonsense that had been added to notes down the years, effectively meaning that my adult consultation had to start from scratch. This was easier than trying to piece a story together from mismatched scraps of dodgy information.

“I not only received the correct diagnosis but also discovered thick cataracts, something many people with LCA often get quite early in life. These blur already low vision and create real issues in bright light. Their later removal meant much reduced discomfort with glare and enabled one eye to focus better on the nearby shadows I see from time to time, such as the darker contrast of doors on tubes. Admittedly tiny  differences in vision, but ones I could still put to use and which I would never have experienced if I hadn’t been curious and if medical inconsistencies hadn’t encouraged me to learn more.

“This experience has much improved my assertiveness on health issues, critical for the management of other conditions, but even twenty years on, I haven’t managed to delete references to the misdiagnosis from all my medical records. The attitude persists with some clinicians that, if there are no health benefits in changing someone’s notes, why bother? Even though one of the Lebers conditions is genetic and the other isn’t, quite an issue if a parent with LCA chooses to have children.”