Treatment of rare diseases is advancing

Everyone who falls ill wants to get an exact diagnosis and targeted treatment as soon as possible when the symptoms emerge. In the case of rare diseases, finding a diagnosis can take a very long time. In some cases, it might take years or even decades to get a diagnosis. According to different estimates, there are roughly 7000–10,000 rare diseases, or diseases that affect fewer than 1 person out of 2000, in the world. Researchers and physicians describe hundreds of new rare diseases every year.

“For some diseases, it takes a long time to determine the exact disease profile and the variation therein and the severity of the diagnosis and its complications because of the small number of patients and the limited amount of follow-up data. This has a negative impact on the patients’ quality of life, causing anxiety. Cooperation between different specialists in the treatment of rare diseases is necessary and benefits the patient”, Sinikka Karppinen, pediatric endocrinologist at the Tyks Unit for Rare Diseases, says.

Units for rare diseases help patients get the care they need

Finland’s first units for rare diseases were set up 10 years ago in the university hospitals of Helsinki and Turku. Today, every university hospital has a unit for rare diseases.

Primary health care and specialized medical care professionals can contact their local rare diseases unit to find their patients a suitable clinic where they can be assessed and treated. The units are also used to build bridges between different hospitals and primary health care facilities. Units for rare diseases do not provide treatment.

A lot has been achieved in 10 years. Among other improvements, the units for rare diseases have made it easier to facilitate consultations with patients more securely and helped collect data from patients with rare diseases and expert networks. Today, it is also easier for health care professionals to record exact diagnoses in patient records and to use the rare diagnostic methods required to diagnose a rare disease. 

National and international cooperation

Units for rare diseases have set up networks of Finnish rare disease specialists for different disease groups. Some of these are also members of European reference networks for rare diseases. The networks disseminate information about the latest diagnoses and the best diagnostic and treatment options.

“When you have a patient with a condition that is challenging to diagnose or treat, help is available through national and international networks. We have received valuable help from our European colleagues. From the patient’s point of view, the key is to find the best expertise for the diagnostics and treatment”, Mikko Seppänen, Chief Physician of the HUS Rare Diseases Center, says. 

Despite the advancements that have been made, there is still a lot to be done in the diagnostics of rare diseases. The special challenges related to rare diseases require nationwide monitoring of the patients’ equal treatment in different regions.