Rare Disease Families Voice Concern Over Drug Pricing Policies

Rare diseases collectively impact about one in 10 Americans — an estimated 25 to 30 million people — and roughly 300 million worldwide. More than 10,000 rare diseases exist, yet 95% of them still lack a U.S. Food and Drug Administration-approved treatment. For many families, obtaining the right diagnosis can take years, and developing therapies requires years of research, significant financial investment, and a willingness to pursue treatments for small patient populations.

One family's experience illustrates these challenges. A 74-year-old man was misdiagnosed with Parkinson's disease and multiple system atrophy before receiving a correct diagnosis of Anti-IgLON5 Associated Autoimmune Encephalitis at UC Health in Cincinnati. "The immune system mounts a very large response, and then it goes haywire, and it starts to attack the brain," explained a neuroimmunologist at University of Cincinnati Health. After receiving immune-suppressing therapy and plasmapheresis — a treatment that filters harmful plasma and antibodies from the blood and replaces them with healthy antibodies — the patient is now in full remission. He still receives plasmapheresis every two weeks and regular follow-ups to keep the condition in check.

Meanwhile, rare disease families across Missouri, Kansas, and the Midwest are voicing concern about the national conversation around the Most Favored Nation prescription drug pricing model, which would tie U.S. pharmaceutical prices to lower amounts charged in other developed countries. For families affected by SLC6A1-related disorders — a rare neurological condition that can cause seizures, developmental delays, cognitive impairment, and lifelong challenges — there are still no approved cures. "For rare disease patients, medical innovation is the only path toward new therapies and a healthier future," advocates state.

Evidence shows that in nations with government price-setting systems, patients wait months, sometimes years, longer than Americans to receive the latest life-changing therapies. Rare disease families are deeply concerned that policies weakening investment in medical innovation could mean fewer clinical trials and fewer opportunities for future treatments. Families across the region often must travel across state lines to reach specialists or participate in clinical trials.

A 501(c)(3) nonprofit dedicated to improving the lives of children and families affected by SLC6A1-related disorders is among organizations urging lawmakers to reject policies that could undermine medical innovation. Specialists say persistence and second opinions can save lives, and research dollars often lag because each rare condition affects so few people.