Rare stories: Lou

When you meet Lou (18), it’s hard to imagine that he lives with such a rare and incurable condition. He’s doing well today, better than he, his family, and his doctors had hoped when he was first diagnosed with Friedreich's ataxia (FA) in 2021. This hereditary, progressive neuromuscular disease can lead to coordination problems, loss of strength and sensation, making walking more difficult. The outlook was bleak: Lou would quickly deteriorate, and there was no treatment available.

However, "giving up" is not in his vocabulary. Lou explains: "I don’t think I fully grasped what the doctors were saying at the time. Or maybe I just never really dwelled on it. I mainly wanted to do everything I could to stay as healthy as possible and lead a normal life. In the years before my diagnosis, I was already going to physiotherapy every week to stretch my Achilles tendons, as they thought they were shortened. Now, I attend around four physio sessions a week and also go to the gym with friends. I actually exercise every day."

Determination

All that effort is paying off. Lou can still do almost everything independently, and he remains mentally strong. "I keep pushing myself and staying determined. I truly feel the drive to be like everyone else and keep up with my friends. And it’s working. I’m studying humanities at a regular secondary school, and next year I hope to study psychology. I also have a lot of friends. Sometimes, I notice people staring when I struggle with my balance and can’t walk properly. If something doesn’t work out, I do it at my own pace or my friends help me. I do what any normal teenager does. That’s my biggest goal."

A treatment in sight

Since February 2024, there has been even more hopeful news: the first drug for the treatment of Friedreich's ataxia has been approved by the European Medicines Agency (EMA) for adults in all EU countries. However, earlier this month, the drug was not approved by the Belgian Drug Reimbursement Committee (CTG). Lou is deeply disappointed: “The medication could slow down the progression of my disease and is crucial in my daily fight to live as normal a life as possible. It’s not a miracle cure, but it’s an extra weapon alongside the many physiotherapy sessions, speech therapy, exercise, the 'Exopulse Mollii Suit'… Every little bit helps. I’ve also volunteered to participate in a gene therapy study, hoping to contribute to improving the future for others with this condition.”