There are no treatment options for over 90 percent of rare diseases and each disease is unique, requiring specialized attention from researchers. 80 percent of rare diseases have identified genetic origins, but others are the result of infections, allergies, degenerative conditions and environmental causes.
Lack of treatment options often leads to increased fatality rates in the rare disease community. In the United States, the Orphan Drug Act (ODA) of 1983 allows for the development of “orphan drugs,” medications specifically designed to treat rare diseases, which are now amongst the most expensive and profitable medications on the market. More than 500 drugs have been made available to patients through grants, fee waivers and tax credits provided through the ODA, and progress continues to honor this act as more drugs are developed and become available each year.
Mesothelioma cancer, for example, is a rare disease typically impacting older adults. The cancer has a poor prognosis and life expectancy is typically 1-2 years following diagnosis. Mesothelioma is an aggressive cancer that most often forms in the lining of the lungs, but may develop in other areas of the body. Asbestos exposure is the only known cause of the disease and there were nearly 2,700 newly diagnosed cases in the United Kingdom in 2015.
Misdiagnosis is common for those with rare diseases. A mesothelioma patient, for example, may suffer from difficulty breathing and fluid build up in their lungs for years, but receive a slew of other diagnoses before receiving an accurate, and often too late, diagnosis.
Fortunately, there is more hope now than ever for a cancer cure as a result of new and advancing technology. Thanks to artificial intelligence, a simple photo could diagnose some rare diseases that show mild symptoms in the face. Progress is being made across the board through the use of these technologies for both diagnosis and treatment.
It’s important for rare disease patients and survivors to tell their stories. Even among a small subset of those touched by one of the 7,000 rare diseases, their stories are varied, but the unlikelihood of their specific disease is the one unifying factor. Patients are from all over the world experience diseases and medical hardship differently, but each of their cases can build upon the last to eventually lead medical professionals towards improvements in care.
If everyone with a rare disease lived in one country, it would be the world’s third most populous country, which makes rare diseases, collectively, not rare at all. On February 28, #ShowYourRare to remind patients they are not alone. Research, funding and relief cannot come soon enough for patients battling the unknown or fighting to understand an undiagnosed disease.