Cystic fibrosis is a severe, multisystem and life-shortening rare genetic disease, which manifests itself primarily through progressive and irreversible changes in the respiratory system and impaired pancreatic and gastrointestinal function. Dr. Maciej Urlik, M.D., and Anna Korzowska, mother of 15-year-old Malgosia, who is 8 days post-lung transplant, talk about life with cystic fibrosis, lung transplantation and hope.
PATIENT WEEK
Living with cystic fibrosis
Published April 24, 2023 11:00
Patients die prematurely, most often from respiratory failure. Until recently, the only therapeutic option for them was symptomatic treatment to delay the progression of the disease, and the chance to prolong life was lung transplantation. As of March 2022, some CF patients have access to a reimbursable therapy - treatment with CFTR modulators that act on the cause of the disease, which is dedicated to people with specific mutations and in specific age groups. This is a major breakthrough, changing the face of the disease, but still waiting for access to treatment, as indicated by the European Medicines Agency, are patients with cystic fibrosis aged 6 and older not previously covered, and patients with cystic fibrosis caused by at least one F508del mutation in the CFTR gene not eligible for the current drug program. The earliest possible access to innovative treatment of cystic fibrosis is a chance to stop the progression of the disease and cachexia, and making effective treatment available to patients who have so far been deprived of this treatment is the only chance for them to be healthy and live longer and improve their quality of life. At the same time, about 15-18% of patients for clinical reasons - due to the type of mutation present in the gene, do not qualify for treatment with modulators at all. For them, symptomatic treatment remains the only therapeutic option, which, although it slows down, does not stop the progression of the disease.
