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21.10.2024

During the latest expert meeting on Friedreich’s Ataxia, Professor Alina Kułakowska, President of the Polish Neurological Society, pointed out that the introduction of the first drug that affects the course of the disease will lead to more patients with FA being diagnosed

Professor A. Kułakowska emphasized that, until now, no FA patients were under the care of her center, but currently, there is a patient who received the drug in September 2024 as part of the RDTL program. This patient is 19 years old and comes from the Podlaskie Voivodeship.

A similar observation was shared by Dr. Anna Sobańska from the Institute of Psychiatry and Neurology in Warsaw (a member of the team within the European Network for Rare Diseases at IPiN). She also noted that a new challenge that arises is reaching patients who have been diagnosed with FA but are unaware that they can receive treatment. She gave the example of a wheelchair-bound FA patient who mentioned having two sisters residing in a social welfare home. She also raised the issue of genetic diagnosis for individuals in at-risk groups who are asymptomatic and the potential for their treatment. The importance of effective FA diagnostics, especially now that the first therapy is available, was also highlighted by Professor Justyna Paprocka, the national consultant in pediatric neurology.

#irss #rarediseases #friedreichsataxia #FA