Yan has an extremely rare disease.3

Yan is a cheerful boy who loves music and singing. His greatest dream is to study at a music school and become a singer. In summer, Yan adores swimming and enjoying active leisure. Despite his dreams and passions, the boy must take care of his health every day. Treatment and constant monitoring have become an inseparable part of his life. Yan has had serious health problems since birth: severe heart defects, joint problems, and difficulties with nutrition. At four years old he was admitted to intensive care due to critically low hemoglobin and severe thrombocytopenia, which caused bleeding and frequent hospitalizations. Yan is now 12 years old, and only three years ago was he given a diagnosis – genetic Kabuki syndrome. The only effective treatment was a hormonal medication, because of which Yan gained 25 kg, which significantly worsened his mobility and wellbeing.

A new course of treatment prescribed by doctors in place of the previous one became his lifeline. The pills prescribed for several months worked remarkably – so much so that the hormone was eventually discontinued entirely. Yan began to lose weight, run with children in the yard, and go on walks to the lake. During the course of treatment Yan lost 15 kilograms, which was an important positive change for his health and wellbeing. Particularly significant is the fact that over the past two years he has had no serious crisis episodes related to bleeding or the appearance of bruising.

There is currently a need for expensive medications that support the boy's health. His mother raises two sons on her own, and managing such significant treatment costs for Yan on her own is extraordinarily difficult for her. We ask you to support the family so that Yan can remain healthy, active, and live a full life.