Wiskott-Aldrich syndrome! My 2-year-old son, Jaś, is battling a rare genetic disorder!

Thrombocytopenia

Within the first few days of his life, doctors diagnosed my son Janek with thrombocytopenia. From that moment on, hospital rooms became a part of our daily lives. Numerous hospitalizations, platelet transfusions, and treatment with corticosteroids were all attempts to manage a disease whose cause remained unknown.

The doctors were constantly searching for answers. Janek underwent a series of specialized tests, including genetic testing and a biopsy. During this difficult journey, another threat emerged: sepsis, which put his body to the test.

The Nplate Program and the RESET Program

In 2024, Janek was accepted into the Nplate drug program. The treatment significantly reduced the need for frequent platelet transfusions, giving us hope for greater stability. Unfortunately, another serious challenge soon arose: severe autoimmune hemolytic anemia.

In our search for answers, we came under the care of a professor specializing in primary immunodeficiencies. It was then that Janek was enrolled in the RESET program.

Diagnosis

The results of the study provided a long-awaited clue, revealing reduced expression of the WASP protein in the bone marrow. This discovery allowed doctors to focus their diagnostic efforts on Wiskott-Aldrich syndrome (WAS), a rare genetic disorder.

After the diagnosis was made, a bone marrow transplant turned out to be the only chance for a cure. They managed to find an unrelated donor who gave Janek a chance at a new life.

Today, Janek is a few days post-transplant. We are waiting with both hope and anxiety for the first news on whether his body has accepted the new bone marrow.

Childhood

For years, our lives have revolved around hospital wards, doctors’ offices, and test results. I don’t have a job because caring for Janek requires my constant presence. I am his mom, nurse, caregiver, and his greatest source of support all at once.

The illness robbed Janek of the childhood every child deserves. Instead of playgrounds and carefree days, he knows hospital wards, tests, injections, and endless medical procedures.

And then there’s Franio, my second son. He’s still too young to understand why I’m away from home so often. Why the days go by without us spending evenings together, without bedtime stories, and without the simple everyday moments that other families take for granted.

Please support me

The costs of treatment, rehabilitation, and frequent trips to the hospital eventually became more than we could afford. Every week brings new expenses. I humbly ask for your support. Any help is incredibly important to us.