27-year old Laurent suffers from a rare disease which affects his muscles, but the young man has not let his illness prevent him from leading a normal life. He carries out secretarial work for the Lycée de Garçons secondary school, where he advocates for a more open approach to questions about his condition.
Laurent’s illness is only visible when he walks, not when he is seated. “I have Emery-Dreifuss muscular dystrophy, or EDMD, which causes progressive muscle weakness, so my muscles are slowly becoming smaller. My tendons are getting shorter, so I can’t stretch my arms. My Achilles tendon is also stiff, so I have to walk on tiptoes. My neck is stiff as well, which means I can’t bend my head forward - I can lean back, but my movement to the side is restricted.”
It took seventeen years for Laurent to receive a definitive diagnosis. He says it was easier to explain his condition to other people once he had a name for it. But by nature of EDMD being a rare disease, there are few opportunities to positively influence the course of the illness. However, Laurent has no intention of defining his life solely through his condition, incurable or otherwise. He says his friends sometimes forget that he is not as quick on his feet, as he still likes to go out, drive his car, and participate in all the activities that his friends enjoy. “Disabled people can lose so much quality of life if you don’t leave the house.”
Laurent has been in contact with the ALAN organisation, which represents the interests of patients suffering from rare diseases here in Luxembourg.
Director Dan Theisen says it often takes a long time for patients to receive a definitive diagnosis. The charity offers support to patients and their loved ones before and after diagnosis, including mental health support. Frequently the organisation encounters patients or family members who are exhausted after years of seeking answers.
Last year, the charity processed over 600 requests for help. ALAN also acts as a mediator between patients and specialists. Theisen says Luxembourg could benefit from more proactive processes in detecting rare diseases at an early stage. Currently, newborns in the Grand Duchy receive testing for just five rare conditions, compared to 20 in other countries. In addition, Theisen says Luxembourg society struggles to find a normal way of dealing with patients suffering from rare conditions, with young patients in particular finding it hard to integrate at school, depending on their disease.
Laurent is campaigning for a more open approach to disability in general. He says he is happier to just explain outright to people about his condition. “I think it’s important to work on accepting your condition, and accepting that people will have questions. Especially children - they have plenty of questions and it is easy to answer them. It’s important to promote awareness and encourage people to ask questions in the first place, as an open dialogue is the best way to reach people.!
Contact ALAN: 2021 2022
infolineMR@alan.lu
For more on this topic, you can listen to the Rare Disease Month episode of The Lisa Burke Show, on RTL Play.
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