site.btaRehabilitation, Social Adaptation of People Affected by Rare Diseases Remains among Their Main Problems, Expert Says

Rehabilitation and social adaptation of people affected by rare diseases has remained one of their main problems over the past 20 years, National Alliance of People with Rare Diseases (NAPRD) President Vladimir Tomov told BTA. February 28 is world Rare Disease Day.

“Therapies are becoming available and funds are being allocated for treatment, but rehabilitation and social adaptation must become part of the comprehensive care for patients. If they are not organized and provided by the state, the patient has to try to arrange them with their own efforts and resources, which in many cases is impossible,” he added.

According to him, the rehabilitation currently covered and paid for by the National Health Insurance Fund is for a very short period and is insignificant. Rehabilitation, especially for people with muscular diseases, must be adequate and prescribed by a specialist who directly deals with the patient’s condition, Tomov underlined.

“The long-standing idea to separate funds for rare disease medicines into a dedicated fund outside the budget of the National Health Insurance Fund and make them entirely a state responsibility could lead to a flawed financing system. Such a system existed years ago, and patients had to wait up to a year to begin their treatment, which is something that worries us,” he said.

“When the funds for rare disease medicines are part of the Health Insurance Fund’s budget, which is sufficiently flexible, we feel much more secure, as patients begin treatment on time and can start therapy within a month,” Tomov explained.

He noted that it is generally accepted that in EU countries 5% of the population is affected by a rare disease. However, since 80% of rare diseases are hereditary, not only diagnosed patients are affected, but also their families. The rare diseases register in Bulgaria is regulated, but it lacks funding and therefore cannot function, he added.

There are 42 expert centers in Bulgaria for diagnosing rare diseases, seven of which are located at Alexandrovska Hospital. Prof. Elisaveta Naumova heads one of them - the Expert Center for Primary Immunodeficiencies at the Clinic of Clinical Immunology with a Stem Cell Bank.

According to her, 273 Bulgarians with primary immunodeficiencies are registered, 139 of whom are children. Since 2016 - when the expert center was established - three times more patients with primary immunodeficiencies have been identified thanks to improved diagnostics, collaboration, and access to genetic testing, which is free for patients. Treatment in the form of replacement therapy is 100% reimbursed by the National Health Insurance Fund, she added.

“There are problems with some complications of these diseases, which require other medicines or orphan drugs that are provided through a specific procedure or cannot be provided in Bulgaria at all,” Prof. Naumova said.

“There are still undiagnosed patients, but we hope that screening will be carried out this year. We are fighting to introduce mandatory immunoglobulin testing at least once during childhood, so that primary immunodeficiencies can be diagnosed early,” she added.