Georgia Celebrates Rare Disease Day on February 28

The 10th event dedicated to World Rare Disease Day was held in Holiday Inn hotel in Tbilisi. The meeting was organized with the support of the Georgian Foundation for Genetic and Rare Diseases. This year, the Fund declared cystic fibrosis (mucoviscidosis) as a priority in 2019.

Invited doctors, members of the Association of Patients, Health Care System Respondents and other civil society representatives once again talked about the severity of the disease and the treatment problems existing today: "Join us to make the voices of vulnerable diseases understandable and important."

The main purpose of the event was to increase public awareness of rare diseases, to ensure timely diagnosis of disease and its proper management. The meeting aimed to improve diagnostics and provision of access to treatment.

During the meeting, discussions were held on rare disease management- past and future, rare inherited metabolic diseases, rare neuromuscular diseases, rare pulmonary diseases, rare diseases in hematology, rare rheumatological diseases, rare forms of congenital abnormalities of sexual development, rare bone diseases and skeletal dysplasia, rare genodermatoses, rare forms of behavioral and mental disorders, and more.

The Georgian specialists and international experts who were invited as moderators discussed criteria for inclusion on the national definition of rare diseases.

"A disease is rare when it appears in less than 1 in every 2000 persons. Today, more than 6,000 different types of rare illnesses exist in more than 60 million people in Europe and the US,” said the Executive Director of the Georgian Foundation for Genetic and Rare Diseases, Doctor of Medicine, Professor Oleg Kvlividze. “Due to the small prevalence of these diseases, medical knowledge and experience are also limited and these patients remain vulnerable in terms of diagnosis, treatment and research benefits in the health care system.”

"Cystic fibrosis is one of the most frequently inherited diseases and evidently reduces the duration and lifespan of patients without adequate treatment,” noted Paediatrician-Gastroenterologist, Doctor of Medicine Tsitsi Parulava. “Cystic fibrosis mainly damages the respiratory and digestive systems where the thin mucosa causes respiratory and digestive problems. Early diagnosis and proper treatment of cystic fibrosis is vital for patients to survive.”

There is a State Program for Cystic Fibrosis in Georgia, which is a step forward, but the program needs further improvement. That is why the Georgian Foundation for Genetic and Rare Diseases has declared cystic fibrosis a priority for 2019.

Rare Disease Day has been observed since 2008 and its main goal is to raise public awareness of the diseases and to show the severity and difficulties facing patients and their caregivers as a result of this disease.

By Mariam Merabishvili