Rare disease patients face hurdles in Bulgaria’s underfunded healthcare system

Prof. Tarnev discussed the challenges faced by patients with rare diseases in Bulgaria, emphasizing the difficulty in getting specialized diagnostics. Many of the tests required are expensive, not available locally, or need to be done abroad. Diagnosing rare diseases is especially challenging, as only a few have cures, but timely diagnosis and early treatment can still make a difference.

There are over 7,000 rare hereditary diseases, and thousands of patients are affected. Some diseases are more common, like hereditary transthyretin amyloidosis, which affects around 300 patients, but others are so rare they impact only a few individuals or families.

Since 2013, Bulgaria has lacked a national program for rare diseases, making it difficult for patients, especially adults, to get genetic testing. These tests are often not covered by health insurance, leaving many people unable to afford them.

Although there are some expert centers in Bulgaria, they are limited in their ability to provide modern diagnostic tests like exome or genome sequencing. As a result, some patients travel abroad to get the necessary tests and return with a proper diagnosis.