Osteopetrosis❗Four-year-old Mikołaj is battling a rare genetic disorder❗

The response didn't come until two years later

From the very first days of his life, Mikołaj struggled with health issues. He suffered from frequent infections, recurring ear infections, and later, vision problems as well. His parents felt there was more to it than met the eye, so they sought answers through further tests, including genetic testing. All the results came back normal. Although this brought temporary relief, it still didn’t explain the source of his ailments.

Mikołaj’s broken leg, which occurred when he was two and a half years old, was the turning point that set the course for further diagnostic testing. However , it took many more months to get a definitive answer. The diagnosis wasn’t confirmed until he was three and a half years old.

Osteopetrosis. A very rare and severe genetic disorder.

A chance to stop the disease

A transplant turned out to be the best hope for halting Mikołaj’s disease. At the end of January, he underwent a procedure designed to give him a chance to stop osteopetrosis. It’s a step that may halt the disease, but it cannot reverse the damage it has already caused to his young body.

The disease had already damaged the optic nerves, causing vision loss in one eye. That is why intensive vision rehabilitation is now a key component of treatment.

Mikołaj's life is now filled with weekly checkups and more tests at a location nearly 500 km from home.

Difficult breakups

Every trip to Wrocław for a checkup means another difficult separation for the family . While Mikołaj undergoes his tests, his younger siblings stay at home in Gdańsk with their grandmother.

Seven-year-old Oliwka and Teoś, who is just a few months old, are still too young to understand the reasons for these trips. They only know that the time has come to say goodbye and that for a while, Mom and Dad will be far away with their brother. For them, these are just more moments of longing and quiet anticipation of their return.

Infections are particularly dangerous

The family’s daily life is now centered on one thing: Mikołaj’s safety. Since his transplant, his immune system has been very weak, so every day requires extreme caution. His parents are also worried about the risk of infections brought home from school, which could be dangerous for Mikołaj given his weakened immune system. Vigilance and anxiety are part of their daily lives.

Further treatment is still needed

Despite his illness , Mikołaj remains a cheerful child with a curiosity about the world. He is particularly fascinated by all kinds of vehicles. He can spend a long time observing how they work and how they are built. His parents make sure that, despite his illness and treatment, there is still room in his daily life for small moments when he can pursue his childhood interests.