My Diagnosis

On June 13th 2017, the day of my brothers 30th birthday, I climbed into my car, music on singing away to the radio, to what I thought was just a routine eye appointment. I had noticed things in the distance might not be as clear anymore, so I thought I would mention it to the optician and expecting that I may finally need some glasses. Once there and after trying to correct my vision down to 20/20, he told me he was going to take pictures of the backs of my eyes, I should have realised then that something was wrong. After sitting in the waiting room, I was finally called in to view the photos. The optician told me not to worry, but he had picked up something that shouldn’t be there and as he turned the computer screen, I saw the black mass in the back of my eye. I will never forget that feeling of absolute fear that came up from my toes all the way up to my head. A wave of sickness hit me and I started to panic. That’s when the optician unfortunately had to tell me that whatever it was, was in both of my eyes and I started to cry.

Walking out of the door with the little paper slip in my hand for an urgent referral to my local hospital, I walked back into my car, sat down and felt completely numb and in shock. I rang my mum and told her what happened and she told me to go straight to my husband’s work that was literally right near the opticians. Once there, my husband gave me a massive cuddle and told me not to worry, it could be anything and made me a cup of tea (as you do when you are British, tea normally fixes anything!) after seeing my husband, I drove home, but had to pull over half way as I had a panic attack. Once home my mum rang me and told me she was taking me to eye casualty to see if they knew what it was.

At eye casualty, I had an Oct scan on my eyes , and had them looked at with every bit of equipment I think they had, but nobody knew what it was, nobody I saw had seen this before and it worried me more, so I was told to come back in a few days for a fleuroscene angiogram and another specialist would be there to see me.

Those few days dragged, and I couldn’t eat or sleep. It’s amazing how much weight you can lose in less than a week, but I just didn’t feel hungry. Each night I woke up scared that I wasn’t going to be able to see anything and I was scared to close my eyes. The Friday of my appointment, I was a nervous wreck. A fleuroscene angiogram is a cannula in your hand and they inject a fluorescent dye into your whole body, it makes everything you look at bright pink, it was horrible, but once it was in my system they could look at my eyes and take photos and see what was happening.

After waiting for what seemed like a lifetime for the photo results, I was called into the specialist’s room. That’s when I heard the upsetting words, you have Stargardts disease and we are sending you to Moorfields in London for further testing as they are working on a cure. In a whole minute, I had been told I was losing my vision and there was no cure, but I didn’t cry at that point, I just felt completely numb and in shock. 10 minutes after that, we were in town buying sunglasses, I just felt like I couldn’t process what he had told me, it was so surreal.

On September 29th 2017, Moorfields confirmed I had Stargardts and I underwent genetic testing which confirmed what we already knew. I also had to find out if my little boy had inherited it too, but luckily, I have the recessive kind, so he has less than a 1% chance which I was so absolutely thankful for 💙.