Adevărul din spatele bolilor rare: „Anii fără diagnostic nu sunt ani de pauză, sunt ani în care boala progresează”

Many Romanians face long diagnostic journeys for rare diseases, often taking years to find answers. Dr. Maria Roman emphasizes that rare diseases are not truly rare, affecting millions globally. The average time from symptom onset to diagnosis is 4.7 years, with significant delays for certain demographics. Genetic testing, like whole exome sequencing, can provide crucial insights, as illustrated by a case of a 5-year-old boy diagnosed with Niemann-Pick disease. Early diagnosis can lead to effective treatments, improving quality of life. However, challenges remain in accessing genetic services and tests in Romania, highlighting the need for better awareness and resources.