Approximately 7,000 rare diseases have been identified, each impacting a small number of people. In the U.S., a rare disease is one that affects fewer than 200,000 people, and these diseases are often little-known in terms of treatment and cures.
While many of us will not experience a rare disease, almost one in 10 Americans is struggling with a rare disease or is a carrier for one.
Garrett Spaulding, a 19-year old Californian, has recessive dystrophic epidermolysis bullosa, or EB, an extremely rare disease that causes blisters and tears the skin. It has created painful wounds on 80 percent of his body and he is unable to walk. There is no cure, but he is sharing the story of his struggle and perseverance, and was featured on the National Geographic show titled “Extraordinary Humans: Skin.” Garrett’s story is helping to educate people about EB and about the suffering that a rare disease can inflict on patients. He still has tremendous hope for his future and has applied to take online college business courses at Cal Poly in San Luis Obispo, and I commend him for his optimism, strength and courage.
Individuals like Garrett often experience delays in being diagnosed, difficulty in finding a medical expert, and a lack of access to treatment or ancillary services. Addressing these problems is complicated but there is agreement that a better understanding of rare diseases and dedicated research is desperately needed.
To increase the awareness of rare diseases, I, along with Assemblyman Katcho Achadjian, have introduced Senate Concurrent Resolution 108 to recognize Feb. 29, 2016, and the last day of February every year thereafter, as Rare Disease Day in California. This day will coincide with the national observance of rare diseases and annually inform the public about the challenges faced by those living with rare diseases.
Living with a rare disease can often be a daily struggle and a lonely fight but the more we demonstrate an understanding of and support for those affected — and for their families — the more we will come together and find new diagnostic and therapeutic procedures that may ease the suffering of patients and reduce the prevalence of rare diseases.