Lotte (21) has Stargardt’s disease and becomes blind: ‘The medicine may come just too late for me’

Three years ago Lotte from Zoetermeer from Rokkeveen was diagnosed with Stargardt’s disease, which caused her to lose more and more of her sight. Not wanting to be seen as “the girl with,” she shared the diagnosis only with loved ones. Until a month ago. on Instagram and facebook Lotte now actively talks about her illness. There is a drug in the making that deserves all the attention.

hereditary

Not only Lotte, but also her older sister has Stargardt’s disease: “My sister already had problems with her eyes when she was four. She couldn’t see the blackboard very well in elementary school. Opticians thought all along that she was making it up, because eye measurements showed nothing crazy. Sometimes she even got fake glasses to take home. She was 18 when she was finally diagnosed correctly. I was eleven at the time and we initially didn’t consider that I would also have the disease. I had no problems with my eyes at all.”

The diagnose

“My parents started talking about it more and more as I got older. In the end I had my blood tested. I was sent a folder with tubes where the blood would go. That folder has been at home for half a year. I really didn’t feel the urgency. I would eventually receive the results by phone, but the hospital immediately asked if I could come by. I already knew then. My world collapsed.”

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Stargardt

“You need two faulty genes for Stargardt’s disease. Both my parents passed on one wrong gene. I still find it quite difficult to explain exactly what Stargardt does, but the bottom line is that our body cannot make a certain protein. As a result, harmful substances cannot be properly discharged, so they accumulate more and more. The older we get, the worse our vision will be. For example, my sister now only has 15% of her view left.”

Lotte .’s experience

“When I was diagnosed, the penny dropped. Sometimes I already had problems with my vision in bed at night. I thought that was normal. More complaints have been added in recent years. Every Stargardt patient experiences it differently. Some people eventually stop seeing color, for example. I always compare it to looking at the sun. If you look away afterwards you see all bright blind spots† Those spots are dark on me. In any case, it can never be reversed. Recently I had to enlarge the cursor on my laptop, otherwise I would have lost it continuously. So if I have to hand something like that, it will never be the way it was.”

Therapy

“At the moment a medicine is being developed at Radboud UMC, specifically for the mistake my sister and I have in our DNA. This process normally takes five to ten years. I don’t have that time and my sister certainly doesn’t. If I now lose 10% of my sight, that’s still okay, but my sister will lose her independence. They call the drug a ‘genetic patch’, which repairs the error in our DNA. This allows the protein to be produced again and stops the deterioration of our vision. Every month I would have to get an injection in my eye for this.”

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Media attention

We met Lotte through her Instagram page† This ensures a lot of media attention for the disease and donations for the medicine. A friend of Lotte’s started a crowdfunding campaign so that the development of the drug can be accelerated: “This money goes directly to research for the drug. Perhaps the geneticist at Radboud can hire an extra person for the lab. Anyway, it helps a lot.”

northern Lights

We wondered if Lotte was also a species bucket list has, with places she still wants to see or things she still wants to do: “I was recently allowed to order a Braille book, but I immediately put it on the shelf. I don’t think I’m going to lose my sight completely. This drug has made me combative. Yet sometimes I am insecure. That’s why I try to see everything I still want to see. For example, I went backpacking in Bali and Lombok. And admiring the Northern Lights is also at the top of my list!”

A mental picture

Lotte studies in Haarlem, does production work for television and will soon be doing an internship at Lief Leven in Haarlem: “A while ago I made an agreement with myself never to work for TV again. Not because I didn’t like it anymore, but because I loved it more and more. The realization that I would have to hand that in later hurt and hurts. However, I took up that work again. I have learned (especially from my sister) to live in the now. I’m not thinking about my life in 10 years. I enjoy every moment. Different from others. During a beautiful sunset, most people quickly grab their phone to take a picture. That doesn’t make much sense to me. I do it with the pictures in my head; my memories. And I look at that sunset for an extra long time.”

Do you want to help Lotte, her sister and other Stargardt patients? You can via this crowdfunding donate, so that the drug gets to the market faster.