Between 250,000 and 300,000 Croatians suffer from rare diseases which are mostly genetic, chronic and degenerative conditions that lead to disability and significantly affect the quality of patients' life.
If diagnosed on time, many rare diseases can be successfully treated and controlled.
Apart from problems related to diagnosis and the quality of medical care, a major problem connected with rare disorders are drugs because there either are no drugs for some of those diseases or they are very expensive and difficult to obtain due to the small number of patients. Those drugs are called orphan drugs.
After several years of efforts by the national association of patients suffering from rare diseases, Croatia adopted a national programme for rare diseases for the period 2015-2020, which defines goals and gives recommendations for better care, including better diagnostics and treatment, the establishment of a register of patients and of reference treatment centres, greater drug availability and the promotion of rare disease research.
Ingeborg Barisic, who has been heading the national commission for rare diseases for six months, said that the commission had started to work on compiling a register, at the Public Health Insurance Institute (HZZO), of patients suffering from rare diseases. She noted that all hospitals now have coordinators for rare diseases and that nine reference centres for the treatment of individual groups of rare diseases have been established, mostly in Zagreb.
Efforts are being made to equip those centres with the necessary diagnostic equipment as well as provide them with better funding as they are required to keep patient registers, carry out research and education and provide a multidisciplinary approach to patients, said Barisic.
As for the availability of drugs for rare diseases, she said that those drugs were very expensive and that their availability was a matter of money and the HZZO's policies.
"If an annual therapy costs US $700,000, it will always be a problem although there are few patients who need such treatment," she said.
Since 36 million Europeans suffer from rare diseases, there are plans to agree, with the pharmaceutical industry, at EU level, joint prices for drugs for rare diseases in order to make those prices lower and drugs more available.
Commenting on the attitude to rare diseases in Croatia, Barisic said that it was bad that there was no continuity in the financing of patient associations. They are very important in terms of providing information and assistance to people suffering from rare disorders, she said.
Barisic also warned about a lack of centres for rare diseases that affect a larger number of people, for example the approximately 200 Croatians suffering from cystic fibrosis.
A fundraising dinner will be held at Zagreb's Panorama Hotel on Tuesday on the occasion of Rare Disease Day.