At least 5 million people in Türkiye are living with rare diseases, a figure that constitutes a significant public health challenge, according to a health association expert.
Marking Rare Disease Day on Feb. 28, Turkish Neurology Association board member Dr. Hacer Durmuş Tekçe explained that, based on EU criteria (affecting fewer than 1 in 2,000), an estimated over 5 million people in Türkiye live with rare diseases.
Globally, over 300 million people live with more than 8,000 identified rare diseases, 80 percent of which are genetic, chronic and often begin in childhood.
Diagnosis can take five to eight years, reflecting low awareness and clinical complexity. While expanded screening programs, including for SMA, have advanced, many conditions lack effective treatment. Reportedly, seven in 10 patients and caregivers leave the workforce.
As part of Rare Disease Day awareness efforts, landmarks around the world were lit in the symbolic colors of rare diseases. Among them were the Leaning Tower of Pisa, the Eiffel Tower and Istanbul’s Galata Tower.
