A small spark of hope keeps her committed to research

Jasmin Toropainen has had a rare muscle disease since birth. In the beginning, the symptoms were very mild and she managed without assistive devices in her everyday life. But after a fall in 2022, the disease worsened, and now Toropainen uses a wheelchair.

The muscle disease that Jasmin Toropainen has is considered ultra-rare. She may be the only person in the country – or even in the world – who has this particular disease.

– Because my muscle disease has been unknown, so to speak, I have not been able to get information about the disease from doctors, despite repeated visits. Instead, I am the one who provides information to the doctors. If you participate in research yourself, more information about these diseases comes to light, and you can help make sure it spreads.

The cause of Toropainen's disease became clear through a research project she participated in.

– In 2020, I received a letter from the Folkhälsan Research Center stating that a deficiency had been found in my nebulin gene. My neurologist said that there was a 99 percent likelihood that my muscle disease was caused by this.

Toropainen has never hesitated to say yes when asked to participate in studies related to rare muscle diseases.

– A cure is what everyone hopes for. At the same time, I know research is a long process, so I don’t expect quick results. However, I am convinced that my participation in research projects will benefit others in the future.

She has seen firsthand how new drugs can make everyday life easier for people with muscle diseases.

– I have seen how a friend who has SMA, spinal muscular atrophy, was given a new medicine that alleviated the symptoms and increased his functional ability. Things like that make you stop and realize the importance of research, even if it does not directly affect you. Research has also led to the development of new drugs for ALS (amyotrophic lateral sclerosis).