Motherhood with SMA: Realizing the dream of a family despite a rare illness

Becoming a mother is one of many women's biggest dreams in life - but what if this dream is overshadowed by the diagnosis of a rare disease? Alina is one of around four million people in Germany who have been diagnosed with such a disease. She lives with spinal muscular atrophy, or SMA for short, which increasingly affects her muscles. Despite her wheelchair and physical limitations, she has fulfilled her wish of having her own family. As the mother of a three-year-old son, she wants to encourage other women that it is possible to become parents even with a rare illness.

SMA affects the nerve cells in the spinal cord and leads to progressive muscle weakness. In Germany, around 1,500 people are currently affected. The diagnosis is often only made at an advanced stage because the symptoms initially seem harmless. Alina was diagnosed with SMA at the age of four, although she had already shown signs of the disease. “When I was learning to walk, I fell more often than other children and always used my arms to pull myself up when I climbed stairs,” says the 32-year-old. Back then there were no routine checks for the rare disease, but things are different today: SMA has been part of newborn screening in Germany since 2021, so the disease can be detected early. Thanks to advances in research and new treatment methods, it is possible for many sufferers to alleviate the symptoms of the disease and maintain their quality of life.

The decision to have a child was a big challenge for Alina. The doctors initially advised the young woman against becoming pregnant, but she did not let them dissuade her from her wish and researched for almost two years before taking the step. The genetic counseling that is now available to those who want to have children was an important part of Alina's decision-making process. It provides information about possible risks and treatment options. “When I was finally able to take responsibility for it and was sure that I could do it and, above all, that my child would not be harmed, I talked to my husband about it. Of course he was very happy that I wanted to try to get pregnant. “It came surprisingly quickly,” says Alina.

Today she manages her everyday life with her child and dog with the active support of her husband and assistants. She needs help with certain maneuvers, but she drives the car independently and thus creates the greatest possible freedom that is possible in her situation. On her Instagram account @mamarolltdurchsleben, Alina gives insights into her everyday life and shares experiences with her followers. The trips with her loved ones are Alina's personal highlights. On the adventure farm they feed the animals and play in the mud - in these moments, all that matters is family and shared happiness.

When it comes to rare diseases, advances in medical research and increased education are crucial so that those affected can receive a diagnosis more quickly in the future. The biotechnology company Biogen is committed to researching and developing therapies for complex and rare diseases. In addition to SMA, the company also conducts research in the area of ​​the hereditary neurological disease Friedreich's ataxia. It leads to progressive movement disorders and affects around 1,300 people in Germany. Similar to SMA, early diagnosis is crucial to slowing the progression of the disease. Through digital platforms likeBiogen – For meBiogen also promotes exchange between patients, doctors and relatives.

It is important that companies like Biogen continue to invest in research to give those affected the best possible conditions to live with their disease. Despite the challenges posed by her rare disease, for Alina and many others, the future means living their dreams. The young mother knows her journey with SMA is more difficult, but she is ready to fight for her little family.

You can find more information about Biogen's research and treatment options for rare diseases such as SMA and Friedreich's ataxiahere.