We work, we develop, we have many friends, we live actively, we travel. We didn't have this opportunity before, due to lack of health, strength, desire," say Dominik and Bartłomiej Bakalarz, patients with SMA.
- Dominik and Bartłomiej Bakalarz - brothers suffering from spinal muscular atrophy - protagonists of our publication
- Both men started treatment in September 2019 under the spinal muscular atrophy treatment programme with nusinersen
- It has been more than two years since the first administration of the drug. I can see a huge difference and the effects of the treatment," says Bartłomiej Bakalarz
- I have four brothers and one of them also has spinal muscular atrophy (SMA). He is four years older than me, Dominik. Dominik and I are the youngest of the five," begins Bartłomiej Bakalarz, born in 1991. Six months after he was born, he showed the first symptoms of the disease.
"Knowledge of SMA was close to zero".
- In my case, the diagnosis was easier to make. At the age of 6-7 months I started to get weaker. My parents noticed the changes and, as Dominik has spinal muscular atrophy, they sort of expected that in my case it could also be SMA. They were just waiting for confirmation through genetic testing," he adds.
In the case of the older brother, the diagnosis was much more difficult to make, because at the time, knowledge of SMA in general was virtually nil.
- In my case, my parents noticed that I wasn't developing properly, it started to worry them and they looked for the cause. There were visits to one doctor after another who didn't know what it was. They either reassured them that it would be fine, that not every child develops at a similar rate, that it would catch up, that it would even out. But the parents were not reassured and kept looking for information, aware that something was wrong," says Dominik Bakalarz.
After more than eight months of searching, they finally came to a paediatrician in Lodz, who became suspicious that it might be SMA. A section of muscle was taken from his leg - in those days there were no genetic tests from blood - and so Mr Dominik was diagnosed. The year was 1987.
The rest of the article can be found at the link: