Treatment of rare diseases in Bulgaria will be free but conditional and limited [Advocacy Lab Content]

6 months ago 25

The Bulgarian parliament has adopted a decision requiring the state to pay for the treatment of some patients with rare diseases. The decision follows decades of legal battles and accusations of discrimination.

The Parliament adopted the changes in early April, the law having been proposed by the pro-European ‘We Continue the Change – Democratic Bulgaria’ coalition.

Although welcomed, the change solves the problem only for a small group of patients – those diagnosed with a rare disease in childhood and started treatment before the age of 18. Free therapy for rare diseases will continue after patients reach the age of majority.

The bill’s explanatory memorandum makes it clear that in 2024 alone, 25 such patients will come of age and will be able to continue their treatment, with costs running to €4.2 million a year.

Outside the scope of the change, however, are people who are diagnosed later in life. For them, the huge costs remain uncovered by the National Health Insurance Fund and the Ministry of Health.

Disparities among rare disease patients

“It is extremely unfortunate that patients who have been diagnosed after the age of 18, as well as those who were diagnosed as children but are approaching adulthood and have not had access to therapy at this time, and have not yet started treatment, said geneticist Dr. Antoaneta Toncheva, a member of the human rights foundation Mostove (Bridges),

Toncheva said these people will be left without options for therapy paid from public funds.

Medical law specialist Maria Sharkova said she also believes that the new legislation is not good enough, although it is a step in the right direction.

“People diagnosed with a rare disease over the age of 18, as well as those with other diseases – oncological, autoimmune, are deprived of treatment with certain drugs. And we are talking about expensive therapy,” Sharkova told Euractiv.

She recalled that the European Court of Human Rights also accepts in practice that the state, having limited resources, cannot commit to providing free treatment to all. In every country, there are conditions and restrictions.

“But when legal preconditions are created, and it is determined which patients with which diagnoses will receive free medicines, this must be done transparently, there must be concrete reasons, a line of defence and proportionality in the restriction of medicines,” she said.

According to Sharkova, the law as it stands is discriminatory, and the Constitutional Court would overturn it if there were anyone to attack it.

“In Bulgaria, specialised centres for the diagnosis and treatment of rare diseases are few, not well known, or difficult to access. To prove a certain rare diagnosis, many tests are needed, including expensive genetic ones. Access to them is very difficult, and patients and their families are forced to pay for them with their own funds, which is sometimes prohibitive,” said Dzhevdet Chakarov (DPS, ALDE, deputy chairman of the Parliamentary Committee on Healthcare, in an interview with Euractiv a month ago.

Patients fall through the cracks

Only 200 rare diseases have been registered in Bulgaria out of over 6,000 known, and due to the country’s lack of registries, it is difficult to say what the actual number of rare disease patients is.

Because of the lack of sufficient screening programs and late diagnosis, it is assumed that many patients in Bulgaria are suffering from a rare disease without knowing it yet.

Currently, mass neonatal screening in newborns includes only three rare diseases: phenylketonuria, adrenocortical hyperplasia, and congenital hypothyroidism. It is estimated that rare diseases affect more than 350,000 Bulgarians, corresponding to 6% of the country’s population.

Another problem for Bulgarians with rare diseases is that fewer orphan drugs are available to them compared to the EU average.

According to data presented by the Association of Research Pharmaceutical Manufacturers in Bulgaria (ARPharM) for Rare Disease Day 2024, between 2018 and 2021, 61 orphan drugs for the treatment of rare diseases were registered in the EU.

Bulgaria offers its citizens only 11 of them. This is well below the EU average (24 drugs) and far behind leaders Germany (55 drugs on average) and Italy (50 drugs).

[By Krassen Nikolov, Edited by Vasiliki Angouridi, Brian Maguire | Euractiv’s Advocacy Lab]