Be Strong and Proud on Rare Disease Day
/By Roger Chriss, PNN Columnist
This coming Saturday, February 29 is Rare Disease Day worldwide. The day recognizes thousands of rare diseases and disorders that together impact millions of people worldwide, both patients and their caregivers.
The goal of the day is to raise the profile of the rare disease community and to spread the word: “Rare is many, rare is strong and rare is proud!”
According to the National Organization of Rare Disorders (NORD), there are over 7,000 rare diseases that are chronic, progressive, degenerative, disabling and frequently life threatening. Many rare diseases are familiar to chronic pain patients, from Trigeminal Neuralgia and Chiari Malformations to Porphyria and Ehlers-Danlos syndrome.
A disease is considered rare in the U.S. when it affects fewer than 200,000 people, while in Europe a disease is rare if it affects fewer than 1 in 2,000 people.
Because there are so many disorders, a total of 300 million people worldwide are thought to be affected by rare diseases. And though each disease is unique, many share common features like chronic pain and limited mobility, and require complex medical care.
Events are planned throughout the week leading up to February 29. NORD is hosting a variety of events, including a gathering at the International Spy Museum in Washington, DC on Saturday.
The FDA held a public meeting on Monday to update stakeholders in the rare disease community on the agency’s efforts to improve treatment for rare diseases. That includes a new request for applications to its Orphan Products Grant Program, which funds clinical trials of so-called “orphan” drugs that could potentially be used to treat rare diseases.
The National Institutes of Health is coordinating panel discussions on Friday, February 28 in Bethesda, MD to improve diagnosis and treatment, expand clinical trial resources, and increase awareness of rare diseases.
In all, NORD lists over 400 events in 106 countries marking Rare Disease Day, including conferences, research presentations, exhibits, walks, rallies and a variety of fundraisers.
Rare Disease Day started in 2008 with the first events held in Canada and Europe. The date February 29 was chosen because it is rare (Rare Disease Day is on February 28 in non-leap years).
Treatment Often Limited
Rare diseases and disorders often go undiagnosed and untreated. Due to their rarity, expertise, treatment and resources are limited for people living with a rare disease, who can also face discrimination at work and school.
Research on rare diseases can actually help improve understanding of more common disorders and lead to new treatments. For instance, Yale neuroscientist Dr. Stephen Waxman discovered the gene SCN9A and its role in two painful hereditary neuropathies. Treatments for these disorders may help people with many other forms of peripheral neuropathy, as Waxman explains in his book, “Chasing Men on Fire.”
Moreover, rare diseases are often misunderstood. They do not look like typical illness and may require unusual forms of medical care. So Rare Disease Day also represents a chance to raise awareness about the importance of research, specialist centers, and healthcare professionals who work on such disorders.
Although most rare diseases do not have a cure, they can all be managed and patient lives improved. Rare Disease Day is an opportunity to focus on promising research, improving patients’ lives, and promoting action.
Roger Chriss lives with Ehlers Danlos syndrome and is a proud member of the Ehlers-Danlos Society. Roger is a technical consultant in Washington state, where he specializes in mathematics and research.
