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Almost 30 million people (1 in 10 people) in the United States have a rare disease. Everyone knows and sympathizes with the plight of people who suffer from them, but the funding and awareness to ease this burden is lacking.

A rare disease is a disease or condition that affects fewer than 200,000 Americans (National Organization for Rare Disorders). That few people have a disease means that there might not be enough specialists skilled and educated enough to treat it. Having a disease with little to no funding, awareness, or doctors able or willing to help treat it is an unimaginable problem.

Despite the US spending almost 2 million dollars on research for rare diseases in 2021, only 3% of the treatments approved by the FDA are dedicated to rare diseases. Therefore, a lack of knowledge, treatments, and testing is almost guaranteed for anyone suffering from these diseases in the US.

That is the life of Bricelyn Dorman, an 18-year-old girl from North Carolina who was diagnosed with Myxopapillary Ependymoma in late 2020. Myxopapillary Ependymoma is a rare brain and spine cancer that only 200 people a year are diagnosed with, so doctors do not know much about it.

Bricelyn went to doctors at Duke Hospital and Levine’s Children’s Hospital and they had never seen a case like hers before. This is despite the fact that neurological diseases have the most funding on the diagnostic market in 2019, and are still projected to have the most funding in the future.

Bricelyn and others face challenges the average person will never begin to understand. But, more research, funds, and awareness for rare diseases, might make the burden more manageable, and save people with new treatments and methods.

Sources

National Organization for Rare Disorders. “List of Rare Diseases | A-Z Database | NORD.” National Organization for Rare Disorders,  rarediseases.org/rare-diseases.