Identifying and treating rare diseases, which affect 1 in 10 people, is fraught with challenges. On average it takes 8 years for patients to receive an accurate diagnosis, and only 5% of these diseases currently have an FDA-approved treatment. At REALITYRx, we understand the realities behind rare disease awareness. May is Myositis Awareness Month and we’re taking the opportunity to highlight this muscular inflammatory condition.
Myositis is often undiagnosed or misdiagnosed as a more common autoimmune disease, and disproportionately affects women of color. Symptoms include muscle weakness, difficulty swallowing, and sometimes a distinctive rash that is less likely to be identified in patients of color. On average, patients wait more than 3 years and see 5 physicians before receiving a correct myositis diagnosis. In that time, damage from the disease can be severe or even deadly. The more patients and physicians are educated about the disease, the more likely patients are to receive a correct diagnosis.
Through our extensive experience working with clients on rare disease awareness, we understand the difference research and support can make for patients, families, and physicians. Recently this work included a campaign for Genzyme, a Sanofi Company, to drive awareness of Pompe disease, a progressive and sometimes fatal disorder. The goal was to help accelerate diagnoses to optimize disease management. In addition, we participated in the launch of Catalyst Pharmaceuticals, a company focusing on the treatment of Lambert-Eaton Myasthenic Syndrome (LEMS), a rare autoimmune disease. LEMS patients often face a long, frustrating road to diagnosis, so awareness is key for this rare disease.
Increased disease awareness and education allows physicians to accurately diagnose patients. Greater awareness also provides the possibility for increased funding to help patients and researchers. At REALITYRx, we’re helping get the word out about rare diseases with the hope of ultimately improving patients’ lives.
Sources:
https://globalgenes.org/rare-facts/
https://www.myositis.org/get-involved/myositis-awareness-month/
https://www.nejm.org/doi/full/10.1056/NEJMoa1714458?query=featured_home
