Ekaterina, a mother of four from Tyumen, is dedicated to providing unwavering support for her two children, Vasilisa and Viktor, who are battling a rare and incurable form of muscular dystrophy. The siblings face the progressive weakening of their muscles, impacting their mobility and vital functions.

Despite the challenges posed by the illness, the family maintains a positive outlook, actively participating in various activities and striving to live life to the fullest. Ekaterina has become a tireless advocate for her children, fighting for their access to necessary medical care and support.

The first signs of the disease appeared when Vasilisa was three years old, with disproportionately tense calf muscles. After a series of examinations, she was diagnosed with myopathy associated with a violation in the fukutin gene. A similar diagnosis followed for her younger brother, Viktor.

The diagnoses dramatically altered the family’s life, requiring constant rehabilitation, medical supervision, and special attention. Ekaterina had to quit her job to dedicate herself to her children’s care.

The family’s daily life revolves around a special schedule that includes classes, walks, and exercises, carefully dosed to avoid overexertion. Despite the difficulties, Ekaterina’s husband works shifts, and she has become a tutor to remain close to her children and support others.

Ekaterina finds strength in her children, a support group of parents with similar diagnoses, and her husband’s unwavering support. She dreams of stability, access to necessary medicines, and a family vacation by the sea.

The family faces bureaucratic hurdles, fundraising challenges, and the high cost of medications. Ekaterina expressed frustration with the healthcare system, where proving the need for expensive treatments and equipment can be difficult. She hopes for a system where mothers of seriously ill children can focus on care rather than bureaucratic processes.

Doctors explain that limb-girdle muscular dystrophy type 2I (LGMD2I) is a rare hereditary disease caused by mutations in the FKRP gene. While there is currently no cure, competent patient management, rehabilitation, and ongoing research offer hope for slowing the progression of the disease and improving quality of life.