Changing the Lives of Patients with

Myotubular and Centronuclear Myopathies (CNM)

Meet Wiktor

When Monika and her husband Tomasz’s first son came into the world, “Nothing indicated before that this birth would be different from others that are performed in every hospital,” said Monika. “Unfortunately, when he was born there was no joy, only fear and pain in our hearts as our baby struggled to breath, did not move and we had no idea why.” The new parents and doctors continued their care of Kacper, without an official diagnosis.  At two-months-old, he suffered cardiac and respiratory arrest, which resulted in very severe cerebral hypoxia. From that moment, he stopped moving and was dependent on a ventilator and chronic respiratory therapy. He remained hospitalized for nearly two years. He eventually moved home under the full time care of his parents, and Kacper passed away peacefully in his sleep at seven years old.

That same year, shortly before their first son passed away, Monika and Tomasz welcomed their second child, a healthy boy that they named Karol. “We were not afraid of another pregnancy,” said Monika.  “Doctors assured us that our first son’s disease was purely accidental, that it was not genetic or hereditary.” A few years later, their third son, Wiktor was born. Unfortunatley, upon his arrival, Wiktor was lifeless, in respiratory distress and “our nightmare began all over again,” said Monika.  

“A child’s illness is not a punishment, it is a test of love and responsibility,” – Monika, mom to Wiktor

After several months, genetic counselors diagnosed Wiktor with x-linked myotubular myopathy (XLMTM), a rare genetic neuromuscular disorder characterized by muscle weakness that can range from not too severe to very profound, debilitating and life shortening. Wiktor requires machines to help him breathe, a feeding tube and 24 hour care which Monika quit her job to provide. In 2019, at the age of 5, Wiktor suffered a number of serious medical setbacks that left him even more medically fragile. “We know that the disease is unpredictable, that there are no winners here. The disease will not go away by itself,” Monika continued, “Wiktor is also afraid as he remembers how he choked and could not catch air.”

While he knows he has a serious disease, Wiktor’s biggest dreams are to be healthy and to be like his older brother, Karol. Karol is not only a big brother for Wiktor but also his motivation to fight. While there is a bond of love between the two, both are profoundly affected by having a sibling who has passed away. Karol in particular talks to his parents about the many conflicting feelings of himself being healthy, while having an older brother who died and a younger who is so seriously ill.

Monika and her family live with the burden of XLMTM, but appreciate the time they have together and their love for each other. “Now we know what we are dealing with and we are richer in knowledge and experience. We are also so very grateful to the patient community for supporting us when times are especially hard, and we are there for other families in return.”

Despite the challenges, Wiktor’s parents describe him as an ordinary six-year-old boy who loves to play with animals, and most of all with dinosaurs. He loves to draw every day and play computer games. His parents also state that Wiktor likes to have his own opinion, is stubborn and difficult to negotiate with.

Monika’s dream is that there will someday be a cure for this disease, not only for the sake of her own son but for all of the patients and families around the world who have walked similar paths. Monika concluded, “We know that we still have a long way to go, but we believe that it will still be beautiful, that our dream will one day come true.“