A girl with a rare disease

The photo shows little 3-year-old Sofia. At first glance, this is an ordinary baby, but she has a rare disease – neuronal ceroid lipofuscinosis type 1.

The girl was born at 34 weeks' gestation, grew and developed well, just like other children. However, when Sofia was 2 years old, she stopped eating solid food, developed movements as if she was washing her hands, and after waking up from sleep she would feel feverish as if she were cold. The parents went to the doctor, who suspected Rett syndrome. Then there was OKHMATDYT, tests and consultations, but the diagnosis was not confirmed. The girl continued to be examined. And in the process of diagnosis, Sofia was referred to metabolism specialists who diagnosed this rare disease.

At the age of 2 years and 2 months, her parents noticed that the girl's walking deteriorated, and it was getting worse and worse every day. After a while, Sofia stopped walking. For more than a year now, the girl has not been walking, sitting up on her own, holding her head, talking and not always responding to requests. Sofia eats only liquid food.

High-quality rehabilitation will improve the girl's condition, but the family cannot cope without financial support from donors. That's why we are launching a fundraiser to help this girl with a rare disease feel better. Let's help her!