Sutton's family watched their daughter's health improve after using a new treatment until its coverage was denied.
Sutton Hohensee, a 16-year-old healthy and active high school student, developed a myriad of debilitating conditions, including autoimmune autonomic neuropathy, mast cell activation syndrome (MCAS), and several other new debilitating conditions. What should have been teen years full of classes, friends, and dreams for the future became years defined by debilitating symptoms, medical appointments, and uncertainty.
Then came a glimmer of hope. Between July and December 2023, Sutton received intravenous immune globulin (IVIG), a therapy both she and her physicians assert was improving her condition.
Then the approvals stopped. The reason was not that Sutton had failed treatment. Instead, the treatment was ultimately deemed "experimental," "investigational," or "unproven" for her conditions. This therapy, often used to regulate aberrant immune responses, has a short list of conditions the FDA has approved for treatment. Coverage disappeared, leaving her family facing overwhelming costs and a painful reality; a treatment that appeared to be helping was suddenly out of reach.
Her health declined. The fight to regain coverage continues. Unfortunately, Sutton's story is not unique.
Across America, families battling rare and complex diseases are encountering the same obstacle. Physicians identify therapies that may help. Patient communities demonstrate meaningful improvement. Yet access is denied because the evidence supporting those therapies does not fit neatly into the framework traditionally used by the FDA and insurers. The consequences are devastating, though the underlying problem remains largely invisible to the public.
Most Americans have never heard of FDA Advisory Committees. These panels are convened to provide independent expert advice on difficult scientific and medical questions. Their role is to challenge assumptions, scrutinize evidence, and ensure regulators hear perspectives that might otherwise be overlooked.
Increasingly, patients and rare disease organizations question whether these committees are fulfilling that mission. The FDA now faces criticism that committee members often lack direct experience with the conditions or therapies under review. Many advocacy groups report that the physicians treating these patients, and the patients themselves, are frequently absent from the decision-making table. The principle embraced by the rare disease community is simple: Nothing About Us Without Us.
Advisory committees should not be public spectacles. They should be rigorous, evidence-based forums where experts wrestle honestly with uncertainty and evaluate data on behalf of patients whose lives hang in the balance. For families like Sutton’s, these discussions determine whether treatments remain available, whether insurers provide coverage, and whether patients improve or deteriorate.
Rare diseases demand a different evidentiary approach.
For common conditions affecting millions, large randomized placebo-controlled trials are the gold standard for demonstrating effectiveness. When sufficient participants exist, studies can be designed, funded, conducted, analyzed, and incorporated into regulatory and coverage decisions — a process that can take a decade or more.
Children with rare diseases cannot operate on that timeline. Patient populations are small, recruitment takes years, and funding is limited. There is little commercial incentive to pursue the studies needed to expand approved uses of existing therapies. Yet the system continues to demand the same evidentiary pathway. While regulators wait for trials, patients await treatment for years or decades, while their conditions worsen.
This is precisely why real-world evidence must play a larger role in rare disease decision-making. Physician experience, patient registries, treatment responses, observational studies, and accumulated clinical data all provide meaningful insight, particularly when traditional trials are impractical or impossible.
No one is arguing for lower scientific standards. Patients are asking for standards that reflect reality.
Recently, HHS Secretary Robert Kennedy Jr. has spoken passionately about accelerating cures, expanding opportunities for rare disease patients, and ensuring that "timely care is compassionate care." He is right, but screening children for rare diseases is only the first step.
What happens after the diagnosis? What happens when a physician identifies a treatment that may help, but patients encounter a regulatory and coverage system that still views that treatment as insufficiently proven? What happens when the evidence needed to change that determination may take years to generate, or may never be generated because the patient population is simply too small?
A diagnosis without access to treatment is not a solution.
Over the past several years, I have met repeatedly with FDA officials on behalf of patients and families confronting these barriers. I have heard the promises: more urgency, more flexibility, more focus on rare disease patients. Those promises matter only if they reach patients. Sutton does not need another announcement. She does not need another task force. She needs the chance to continue a treatment that helped her.
Secretary Kennedy has pledged to accelerate cures and improve access for rare disease patients. Screening children for rare diseases is important. But if families cannot access treatment after diagnosis, the promise of early detection is meaningless.
For Sutton and thousands of families like hers, the question is no longer whether timely care is compassionate care. The question is whether this administration, and the FDA it oversees, will ensure that patients with rare diseases have a meaningful voice in the decisions that shape their futures.
Because for far too many families today, the answer is still the same: Denied.