According to the Louisiana Rare Disease Advisory Council, 1 in 10 people experience a rare disease.
Kelly Rouse is the Director of Holy Angels Community School as well as the chair of the Louisiana Rare Disease Advisory Council.
Rouse was a behavior analyst and psychologist. She says many of her patients had rare diseases, and she enjoyed helping them. Then, she was directly involved in the community when her son, Rowan, was born with an ultra-rare form of muscular dystrophy. Her son’s condition only affects a handful of people around the world, so she has experienced firsthand the difficulties of seeking medical assistance for a rare disease.
"Navigating healthcare is very, very complicated."
Some of these complications are figuring out what is and isn’t covered by insurance, getting treatments that have to be out-of-state, getting access to healthcare providers who have expertise in rare conditions, cost of travel, and more that are unique to the rare disease population.
"If something affects fewer than 1 in 200,000 people, it’s actually considered a rare disease," Rouse says.
The term ‘rare disease’ is actually just an umbrella term for many conditions with an array of symptoms. These can be conditions that affect major bodily systems, cause developmental delays and cognitive disabilities, bleeding and clotting disorders, and even rare cancers.
"So, 'rare' isn’t really so rare. It’s actually pretty common."
Rare diseases can be visible or unseen. Rouse says you never know what someone is going through.
"Many of the patients in our state you look at, they’re leading full lives. They have families. They have job responsibilities," Rouse says. "They have all of those same stressors in life that we do, only they’re struggling to survive a lot of days."
Rouse says the mascot of the rare disease community is the zebra, which has an interesting story behind it.
"Years ago, in med school, med students that were soon-to-be doctors would be told ‘If you hear hoofbeats, look for the horses,'" Rouse says. "Which basically insinuated when we see these symptomologies, we want to rule out the most simple explanations first."
As a scientist, Rouse says she understands why students would be told this, but sometimes the simplest answer is not the answer for everyone.
"It’s not the horse, it’s the zebra that we’re looking for," she says. "And with it being 10% of our population, that’s a lot of zebras we’re missing in healthcare."
A good way to show support to those with rare diseases is to wear some zebra print, according to Rouse. Whether it’s a zebra print item of clothing or just a zebra button, Rouse says it’s a good way to show your alliance for the community.
"There’s more people than you know that will see that and know what you’re wearing it for."
This year, the Louisiana Rare Disease Advisory Council celebrated Rare Disease Day at the Capitol Gardens in Baton Rouge. Holy Angels participated in the event, and Rouse says celebrating Rare Disease Day is important for the people at Holy Angels.
"You have to remember most of these patients, when they’re diagnosed with some rare condition, it actually becomes their job to educate the doctors that they see on these conditions because they’re rare," Rouse says. "Most of the time, our healthcare providers have never actually heard of them."
The council’s number one concern is ensuring that people in the rare disease community have access to experienced and thorough medical providers who can help their individual cases. For many patients with rare diseases, it can take 7 to 10 years to get a diagnosis.
"In the rare disease community, the more rare something is, the harder it is for patients to actually find a patient organization, a support group, a foundation, even a social media or Facebook group where they can connect to other patients who might have some information. It becomes more and more difficult the more rare it is."
She says there are slim chances of her running into other families who have Rowan’s condition, which is why something like an international Facebook group or a Rare Disease Day Celebration can be really beneficial. Rouse also says that advocating for people with Rare Diseases ensures that scientists can do the proper research for new rare diseases.
"Even what we know today as true, for many of these rare conditions in the next five years our truth will change," Rouse says. "The science is ever evolving. We’re having really, really great advancements in technologies in science around this arena. And so, everyday we’re learning something new. It stays pretty exciting that cures and treatments are right around the corner."
As someone who has experienced firsthand being a caregiver to someone with a rare disease, Rouse says it’s important to be a good listener for them. She also says that caregivers need their own support systems as well, which is what the Louisiana Rare Disease Advisory Council is hoping to offer.
"It’s important to have people that will listen, and that can be a sounding board for you during times of trying to figure out which way to go, what doctor to listen to, what family member to listen to."
This is Alaina Atnip with Red River Radio News.