Oklahoma Rare is hosting the state’s inaugural rare disease fair from 9 a.m. to 5:30 p.m. Sept. 30 at Bethany Children’s Health Center. The grassroots organization hopes to bring patients, caregivers, providers and politicians together to explore ways to improve care for Oklahomans with rare diseases.
One in 10 people in the U.S. have a rare disease. It took Sky Collins more than eight years to get a diagnosis for her daughter, Presley, who has Malan syndrome. As of November 2024, around 350 people worldwide were confirmed to have the rare genetic disorder.
Collins, founder of Oklahoma Rare, said she realized the value of community for those impacted by rare diseases and their families when she attended her first Malan syndrome conference. That inspired the creation of Oklahoma Rare four years ago. Now, Oklahoma is set to become one of five states in the U.S. to host a rare disease fair.
The idea came from conversations with Carolina Sommer, the co-founder of the NW Rare Disease Coalition, which supports patients in the Pacific Northwest. Collins said the fair, hosted in partnership with the coalition, has been planned over 18 months.
It will feature several panels, including one on patient voices and transitioning from pediatric to adult care. Collins said the group also hopes to cover issues facing Oklahomans with rare diseases, such as specialist shortages, which can make it more difficult to get diagnosed and access care.
Presley, for example, sees 16 specialists, Collins said. The Oklahoma City resident said this burden is made somewhat easier because they live in an urban area. But families in rural areas can be hours away from their providers.
“If your child needs to see a specialist in Oklahoma City, and you’re rural, that's a day off of work,” Collins said. “If you can't get all your specialists in one day, that’s multiple days off work. That's childcare, that’s gas, that’s money. There are some real access to care challenges.”
Collins said policy brainstorming will occur throughout the day as the Oklahoma Legislature prepares to meet a Dec. 4 bill request deadline.
Oklahoma Rare has recently backed legislation to establish a Rare Disease Advisory Council within the Oklahoma State Department of Health. The council would provide guidance and recommendations to educate the public, Legislature and other state agencies on the needs of individuals with rare diseases.
Senate Bill 207 by Sen. Tom Woods, R-Westville, and Rep. Josh West, R-Grove, made it to the governor’s desk during last year’s legislative session. Gov. Kevin Stitt pocket vetoed the bill, meaning he didn’t act on the measure 15 days after the final day of the 2025 session. More than 30 states have established a rare disease advisory council.
The fair will also feature 15 reproductions of portraits from Beyond the Diagnosis. The nonprofit unites art and science to promote inclusivity and raise awareness for children living with rare and life-altering diseases. Artist Puma Opusunju crafted a portrait of Presley for the exhibition.
The artwork travels to medical schools, research institutes, hospitals, galleries and museums.
Portraits featured at the Oklahoma Rare Disease Fair will represent patients diagnosed with conditions on the newborn screening panel. Screenings look for developmental, genetic and metabolic disorders in newborn babies. Collins said this is meant to recognize Newborn Screening Awareness Month.
“I was so surprised by how breathtaking reproductions could be,” Collins said. “They're amazing, and her portrait really is beautiful.”
Resource tables will also be available. Collins said she hopes to bring together every stakeholder in the rare disease space.
“This work, it doesn't happen in a vacuum, and it can't happen in silos,” Collins said. “When we are together, we are stronger. Our voice is stronger, our experiences are stronger. I think I'm just really blown away by the collaboration, and I'm so excited and I am honored to be able to do this.”
Interested Oklahomans can register online for the event.
StateImpact Oklahoma is a partnership of Oklahoma’s public radio stations which relies on contributions from readers and listeners to fulfill its mission of public service to Oklahoma and beyond. Donate online.
