Advocates Fight For More Funding For Research, Treatment Of Rare Diseases At Nation's Capitol

By definition, they are rare. But because there are so many of them, ‘rare diseases’ affect nearly one in every ten Americans. 

So, to help ensure that quality medical care for those afflicted individuals becomes less rare, advocates — including some from Oklahoma — came together in Washington last week.

According to the National Institutes of Health, a ‘rare disease' is a disease or condition that affects less than 200,000 people in the United States. But there are approximately 7,000 rare diseases, so there was no shortage of advocates at the Capitol for Rare Disease Week.

"Cherokee Nation has been here lobbying for lots of things all the time," January Hoskin, the Cherokee Nation First Lady, said, "now we’re here with the rare disease community."

In an interview last Thursday, Hoskin said this was the first time the Tribe had sent a delegation for Rare Disease Week.

"We are just making connections and networking, taking part in the process," Hoskin stated, "and I felt it was important to do that."

Hoskin herself struggles with a rare disease, Ehlers-Danlos Syndrome (EDS), a genetic connective tissue disorder. 

There are 13 types of EDS, but the most common variation is characterized by joint hypermobility, joint dislocations, hyper elastic skin, digestive issues, and chronic pain. 

Hoskin experiences, or has experienced, all of those symptoms.

"I was 38 years old before I got a diagnosis," she explained, "and that was after years and years of being told there was nothing wrong with me."

Hoskin said she's learned the hard way to carry her medical records with her wherever she goes.

"It’s scary," Hoskin said, "because if something happens and you don’t know what to do, the doctors don’t know who to refer you to, and...it’s frustrating."

That frustration, she said, is a big reason she's taking a more active role in raising awareness of, not just her rare disease but all of them.

"Indigenous populations have a higher rate of rare diseases than the general population," the First Lady said, "and they are often excluded from the research and outreach, and I just want to bridge that gap to make sure that we are included from now on."

Hoskin said the Cherokee Nation is planning to host its own rare disease conference later this year and will invite people they connected with in Washington, as well as, other Tribes.