Challenges in rare diseases: Misplaced treatment expectations Challenges to find the right treatment (if any): Limited number of effective treatments Lack of meaningful, real-world evidence or clear treatment guidelines Treatment may only target symptoms, not cure 95% of rare conditions have no licensed treatment in the UK1 Access Treatments may be available but not accessible: […]

Disease education

Challenges in rare diseases: Misdiagnosis and missed diagnosis It can take years to get the right diagnosis: Frequent misdiagnosis with more common/likely diseases Low awareness of possible rare diseases Lack of knowledge of any symptom clusters Devastating impact on the patient and their family 40% of patients are misdiagnosed1 Patient identification Lack of common approach […]