site.btaInformation Campaign Launched in Support of Patients with Rare Diseases

An information campaign is launched in support of patients with rare diseases. Called "6000 Reasons for Action", it is carried out on Facebook and LinkedIn as well as information and health websites, the organizers said in Wednesday. 

The campaign popularizes videos telling the stories of patients affected by various rare diseases and the hardships they and their families face: delayed recognition of symptoms, unnecessary interventions, and life with the disease.

The awareness campaign is organized for the second consecutive year and is on the occasion of World Rare Disease Day, February 28. It is implemented by the Association of Research-based Pharmaceutical Manufacturers in Bulgaria and is held under the auspices of the Health Committee of the 51st National Assembly. Partners are the Ministry of Health, the National Health Insurance Fund, the Bulgarian Medical Association, the National Genetic Laboratory, the Bulgarian Pediatrician Association, the Bulgarian Association of Neonatology, and other medical associations and patient organisations.

The campaign aims to overcome the deficits in the healthcare system related to timely diagnosis and comprehensive care for people with rare diseases. There are more than 6,000 known rare diseases worldwide, 72% of which are genetic and nearly 70% occur in childhood; in Bulgaria, more than 350,000 people are thought to be affected, but accurate registries are lacking. Diagnosis is hampered by the small number of patients, expensive genetic tests and the limited experience of doctors, while expert centres and institutions are under-resourced and difficult to access.

A comprehensive national approach is needed to ensure adequate treatment, social support and programmes for accompanying care, as the National Programme for Rare Diseases is outdated and needs to be updated, the organizers said. 

Rare Disease Day is marked every year at the end of February to raise awareness of these conditions that require timely diagnosis and effective therapy, ensuring a better chance of treatment and a normal life for patients.