Within the Duchenne muscular dystrophy community, I’ve earned membership in what we call the “old mom club.” My son is 33 years old—an age many boys with Duchenne previously did not have a chance to reach.
My son’s life is a testament to scientific progress. A college graduate, one reason he has lived so long is that his genetic mutation responded well to a treatment designed for his specific subset of Duchenne. This treatment helped preserve functions that would have previously been lost much earlier.
Duchenne has been a learning curve for all of us, but it has taught me a great lesson: There is no such thing as a single miracle treatment.
Today, while my son’s pulmonary function remains stable, his cardiac health is declining. That reflects the complexity of Duchenne, as its dystrophin mutations affect patients differently and progress along different paths, organ systems, and timelines.
Since 2011, Jon has been on the therapeutic Atalauren—the first genetic treatment reviewed by the FDA to target an underlying cause of Duchenne. Although it has not yet been approved by the FDA, he has continued the treatment under the agency’s “extended access,” because he was in the original trial.
It has worked for him. When he briefly stopped taking the medication, we saw an immediate decline. Continuing the therapy was our choice, and that decision paid off.
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The patient community experienced another treatment-access loss last summer when Elevidys, a new gene therapy approved for Duchenne, was removed from wide use due to the tragic deaths of three patients. Although the deaths involved liver complications, the drug is now withheld from all non-ambulatory patients, regardless of liver function.
Lack of treatment access is a greater concern for rare-disease families than accepting risk, because it guarantees decline or death. But we also recognize that because genetic diseases exist on a spectrum, their treatments must as well. The future of rare-disease medicine lies not in one cure that fits all, but in developing a range of therapies tailored to individual patients and specific genetic mutations.
A therapy that may offer meaningful benefit for one patient may not address challenges faced by another. One treatment may help preserve walking. Another may protect respiratory function. Still another may be needed to slow cardiac decline.
For Duchenne, such treatments could address different genetic defects with needed precision, as targeted medicine is changing what is scientifically possible for all rare-disease patients.
As a member of the Parent Project Muscular Dystrophy community, I hear from families facing impossible decisions every day. They are asking the FDA to recognize that progressive rare diseases do not operate on bureaucratic timelines.
Our country is blessed with brilliant and dedicated innovators who demand scientific rigor for treatments under an FDA accelerated approval process that balances urgency with evidence, allowing regulators to act responsibly while acknowledging that delays only compound risks.
The concern in the rare disease community is that the accelerated approval pipeline seems empty. To us, this telegraphs the message that although we have been loudly expressing the need for urgency, the FDA is not validating our concerns.
Quality of life should not be a secondary consideration in regulatory decisions—it is often what patients with terminal rare diseases value most. The ability to breathe independently, attend college, hold a job, or simply spend more meaningful years with loved ones cannot be measured solely through traditional clinical endpoints. Once those abilities are lost, they are often gone for good.
The FDA has demonstrated it can evaluate complex therapies while maintaining high scientific standards. It should consider rare disease treatments thoughtfully and responsibly for patients who have few alternatives, and for whom time is the one resource they cannot replenish.
One size does not fit all in rare diseases. In fact, one size does not even fit all patients living with the same rare disease. Science recognizes that reality. Our regulatory system must do the same.
My son is alive today because innovation reached him in time. The next generation of families deserves an FDA that recognizes the complexity of rare diseases, embraces precision medicine, and moves with the diligence and scientific excellence these patients’ lives demand.
My greatest hope is that the next generation of Duchenne families will know the “old mom club” not as a miracle, but as the standard.
Christine Piacentino is a Duchenne muscular dystrophy mom and advocate and a risk assessment professional.
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