TAHLEQUAH -- Rare Disease Day takes place annually on the last day of February and is celebrated nationally and internationally to raise awareness about rare diseases and the impact they have on patients' lives.
According to rarediseaseday.org, 1 in 20 people live with a rare disease and that is why is it important to build awareness.
Cherokee Nation first lady January Hoskin lives with a rare disease called Ehlers Danlos Syndrome. She said the road to her diagnosis was "long and frustrating" because of the complexity of her health condition.
?"As anyone with a complex health condition, particularly a rare disease, will tell you it is a long story," Hoskin said. "This included years of misdiagnosis, dismissive attitudes from some health providers and the feeling of hopelessness."
EDS is "a group of related disorders caused by different genetic defects in collagen. Collagen is one of the major structural components of the body. Collagen is a tough, fibrous, protein, and serves as a building block essential in both strengthening connective tissue (e.g. bones) and providing flexibility where needed (e.g. cartilage)," states rarediseaseday.org.
"My symptoms were typified by debilitating and seemingly unexplainable pain. I experienced months unable to walk," she said. "My mother told doctors that it seemed a lot like what her mom had, which was collagen disease, what they used to call EDS. She was diagnosed in 1962. But I was young and looked healthy so the doctors I visited did not take me seriously."
She said it took a while to find a doctor to work with, and in that time, was in constant pain and went months without being able to move.
"I had to educate myself in things I never thought I would have to learn in order to become my own advocate," she said.
Hoskin began working with different health care providers who could provide her some knowledge on the disease and had learned how to manage her symptoms.
"I manage my symptoms better now than ever before, but I am still affected every day, and I always will be," she said. "I continue to stay up on the latest on EDS, consult physicians and take care of myself as best I can. The most important thing is that I know what is wrong with me. Knowledge is power and is itself therapeutic. I feel that I should use my experience to help others, which I try to do."
The tribe recognizes Rare Disease Day, and now has the CN health system rare disease committee, pushed for by Hoskin and CN citizen Jade Day, who advocates for her son who lives with a rare disease.
"Many of us felt that Cherokee Nation's excellent health staff and programs could make a huge positive impact on citizens struggling with rare disease diagnoses and treatment," Hoskin said. "Because other health systems and tribes often look to Cherokee Nation leadership in healthcare, I am hopeful that the work of the rare disease committee also has a broader impact across the country."
Hoskin said she wears zebra stripes, the official ribbon colors, for Rare Disease Day and creates awareness on social media.
"Social media is where much of the awareness of rare diseases are discussed," she said. "The nature of rare diseases is that, unlike many other health conditions, there are few established, long-standing and well-funded public outreach and fundraising campaigns. So, social media can be a good place to educate and more importantly provide morale support for people otherwise struggling silently with a rare disease."
For information, visit rarediseaseday.org.
Rare diseases key statistics - rarediseaseday.org
* More than 300 million people around the world live with a rare disease.
* There are more than 6,000 identified rare diseases.
* 72% of rare diseases are genetic.
* 70% of genetic rare diseases start during childhood.