There was no indication that we would have to face this cruel disease. Julek was an extremely premature baby whose difficult birth was the beginning of this sad diagnosis: Hoyeraal Hreidarsson syndrome. We knew nothing about this disease, except that Julka’s cousin also had it. We decided to fight and save our son by all means possible, but in our country, this is difficult due to the lack of knowledge about the disease and the lack of willingness to learn about it. Julian is now 5 years old, very cheerful, always smiling, funny, understands everything but doesn’t speak. He doesn’t walk and is fed parenterally. In 2022, he underwent a bone marrow transplant from an unrelated donor. The transplant was successful, but it left behind many side effects. Julek spends daily time in therapy and rehabilitation so that he can be at least somewhat independent in the future. The disease has caused microcephaly, short stature, developmental delays, esophageal stenosis, intestinal inflammation, and hemorrhage. Despite his difficult condition and the struggles of each day, we will never give up.
Julian Bukowy
Gene: DKC1
