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The 10-year-old girl was cheerful and upbeat as she spoke to a group of strangers online, but she was also disarmingly clear-eyed about the challenges she faces.
“There is currently no cure for my connective tissue disease,” Sati Cooper-McCann told a panel organized by the Rare Disease Legislative Advocates (RDLA) of the EveryLife Foundation for Rare Diseases. “Seventy-five-percent of us rare disease patients are children, and 30% of us do not live to see our fifth birthdays.”
Sati, who has Stickler syndrome, was the moderator of a Dec. 10 panel that included several children and teens with rare conditions, and staffers working for the Rare Disease Congressional Caucus.
The young presenters spoke movingly of their courageous struggles with rare diseases.
They also described legislative action to encourage new treatments and facilitate access to those treatments. Some of the measures they called for were included in a package of year-end legislation, but the future of that package and the health care provisions are unclear.
Pushing for PPRV
Sati, who described herself as a patient advocate, discussed legislation that matters to her, including the Pediatric Priority Review Voucher program (PPRV), which incentivizes treatments for pediatric rare diseases.
“The priority review voucher program, or PRV for short, is set to expire on Dec. 20,” she said. “We can all move the needle and renew it for another five years.”
Another young panelist, Jake Juip, 18, told of his journey with the rare disease Friedrich Ataxia (FA), which causes progressive damage to the nervous system and can lead to difficulty walking and further, life-threatening health problems. An active child, Jake had trouble keeping up with the physical activities of others and was diagnosed with FA as a young boy.
He learned “there is no cure and no treatment for this rare disease. And that really filled me with a lot of dread and despair.”
Jake’s response was to investigate every experimental treatment for FA under development worldwide and try to enter as many clinical trials as possible.
“As I participated in this research, I realized that the research I was in led to hope,” he said. It also led to the eventual development of a treatment, Skyclaris®, which Jake is now pleased to be taking.
“Skyclaris® became possible because of the pediatric priority review voucher program, which supported Reata’s development of Skyclaris®,” he said. “Reata was incentivized to take a risk and invest in FA research, and I’m glad they did.”
Years after his diagnosis, Jake became the first-ever adaptive track state champion in Michigan and has graduated high school and started college.
“There are tons of pediatric diseases out there—diseases that flip kids’ lives over and take away things that they love to do, just like FA,” Jake said. “They need more incentives for medical research and progress, not fewer.”
Chris Jones of the office of Rep. Gus Bilirakis (R-FL) said the congressman wants to see the PPRV program renewed and discussed how it encourages research and new treatments. He said that the vouchers add no extra cost to taxpayers, but the incentive has proven to keep companies working on drug development, which can cost millions, even billions.
“The research has shown that, despite those huge expenses, that voucher will really keep them going to get that final approval for a treatment or cure for these rare diseases,” said Jones, adding that vouchers have encouraged 54 new Food and Drug Administration (FDA)-approved treatments for 39 rare diseases.
Crossing state lines for care
Rafaella (Rafi) Kopelan, 17, described what it was like to learn of a new treatment for dystrophic epidermolysis bullosa (DEB), a serious, ultra-rare, genetic blistering disease that has caused her great pain and requires constant treatment.
“For the first time in a long time, I had hope. I could now dream about what I would do once the burdens have lessened. So I let myself make friends. I would become a teacher,” a lifelong ambition, she said.
The drug has relieved Rafaella’s condition, but it is not a cure.
“The reality is that the only way I can get significantly better is if there are several therapies that are used at the same time,” she said. “The only way this is going to happen is if there are incentives for drug development in rare diseases,” including legislation.
Once the drugs are approved, it will be important for her to get treatment. Rafaella noted there are only five medical centers sufficiently specialized in her condition to provide care, and said the law should accommodate this reality by ensuring coverage for out-of-state care.
Ten-year-old Kassidy Chenoweth, another panelist, was four when she learned she had collagen VI-related muscular dystrophy, which causes progressive muscle degeneration, impacting skeletal muscles and connective tissue.
“I’m from a rural farming community in West Central Illinois,” Kassidy said, explaining that it was challenging to find local doctors, or any doctors in her state, who understood her rare condition.
“At age 10, I’ve had to learn to advocate for myself,” Cassie said. “Going to doctors locally for something that seems simple, like a cold, I’ve been recommended treatments that might be harmful for my condition.”
After a long search and a lot of negotiations with her insurer, Kassidy was able to obtain care from “what I now consider my team, at Cincinnati Children’s Hospital.” She said it was fortunate she had private insurance, or getting treatment in Ohio would have been even harder, and she still faces barriers in coverage for treatment and equipment, like a wheelchair.
One solution to the need for out-of-state care, the Accelerating Kids Access to Care Act, was added to the year-end legislative proposal, but the future of that legislation is unclear.
Nicholas Pottebaum, with the office of Sen. Chuck Grassley (R-IW), told the panel the senator would promote the legislation next year. He said it would remove red tape preventing children with rare diseases from getting Medicaid coverage when they travel for specialized medical care.
“We know that kids with complex medical needs tend to go out of state when their local hospital or even hospital within the state can’t provide the care or treatment,” he explained.
Other legislation that could help
Brian Fahey from the office of Rep. Brett Guthrie (R-KY) said he was proud to announce that the congressman had been chosen to head the House Energy & Commerce Committee, where he had already been serving as the head of the Health Subcommittee. Fahey described legislation benefiting rare disease patients that Rep. Guthrie has fought for and would continue to promote in the next Congress.
One bill championed by Rep. Guthrie, the Medicaid VBPs for Patients (MVP) Act, would allow drug makers to enter value-based care agreements with state Medicaid programs so that the drug maker would only be paid if the treatment is successful. The goal of this creative financing arrangement would be to allow Medicaid to cover cutting-edge cell therapies, which are enabling miraculous cures but are often quite expensive to implement.
Another area Rep. Guthrie would address is “disincentives that were created in the Inflation Reduction Act (IRA)” that are discouraging the development of drugs for rare diseases.
“Unfortunately, because of the way the law is structured, it’s really forced manufacturers and innovators to move away from research and development of rare disease drugs,” Fahey said. “We’re going to be working on trying to conduct oversight over the IRA and making sure that we’re not creating disincentives and we’re able to get cures to market for patients like you all and others as quickly as possible.”
Learn more about the Pediatric Priority Review Voucher program on the EveryLife Foundation for Rare Diseases website.
