What Challenges Exist in Diagnosing Rare Diseases?
Diagnosing rare diseases in children is particularly challenging due to their low prevalence and the often non-specific nature of early symptoms. Rare diseases may mimic more common conditions, leading to diagnostic delays. Genetic testing and referral to specialists are often necessary for accurate diagnosis, but these can be time-consuming and expensive. Early diagnosis is crucial for many rare diseases to initiate appropriate treatment and improve outcomes.
