Dominik is a smiling, loving boy who was born in 2022 in perfect health. His development was initially uninterrupted, he was breastfed in 100%, turned on time, reached for toys, and gained weight nicely.
At four-and-a-half months old, his problems began: his appetite started to decrease, he started coughing and needed hospital treatment. After several tests, he was switched to tube feeding, which continues to this day. A genetic test revealed an abnormality in the GARS1 gene, which led to the suspicion of SMAJ1 (spinal muscular atrophy), but the diagnosis has not yet been confirmed.
Dominik's diaphragm is not working properly, so he needs a non-invasive ventilator at home, 0-24 hours. His motor development has stalled, but he attends regular development sessions. Unfortunately, his condition has deteriorated and he is currently receiving palliative care to alleviate symptoms and maintain quality of life.
The family is doing everything they can for Dominik, and all the help and support they can give them is a great strength in this difficult fight. Let's help Dominik and his family together!