Opinion: I’m a rare disease mom, and I finally have new hope for my son’s future

STAT News · Feb 27, 2026 · Collected from RSS

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Every parent dreams of a healthy future for their child. For me, that dream vanished when, at 4 weeks old, my son Wheeler was diagnosed with CLN3 juvenile batten disease, a rare genetic disease that will steal his vision, memory, mobility, and ultimately, his life. At the time, research into potential therapies offered hope. But those therapies have since been shelved or stalled given the uphill battle of drug development. For years, families like mine have watched scientific breakthroughs outpace our ability to get lifesaving treatments to our children because the science has outpaced the system. Imagine a vast, treacherous canyon. On one side are children, suffering from devastating genetic diseases. On the other, the promise of modern science — gene therapies, personalized medicines, the hope of a cure. There have only been two ways to cross this chasm. First is an eight-lane superhighway, designed exclusively for massive traffic. This is our traditional drug development pathway, requiring huge, $10 million-to-$100 million trials for drugs that treat the masses. It’s effective for common ailments, but for ultrarare diseases, it’s not an option. The “toll” is immense, and the journey too long. Then there’s a rickety rope and wooden slat bridge. This path is built from the sheer will and desperation of parent advocates who raise millions hosting bake sales and golf tournaments, find scientists willing to develop a therapy, and convince an institution to manufacture and administer it. That path is built for one child and one mutation, by one desperate family at a time. This is not a sustainable path — it is a series of individual acts of heroism by parents like Julia Vitarello, whose daughter Mila Makovec was the first in the world to be treated by an individualized medicine. In 2018, Mila received the world’s first individualized antisense oligonucleotide, developed in under a year. In 2025, Baby KJ was treated with customized DNA base editing at 6 months old, his application processed by the Food and Drug Administration in just one week. Despite these breakthroughs, the promise of personalized therapies — drugs or biologics custom-built for a child’s unique genetic code — has been tantalizingly close yet frustratingly out of reach. Parents and advocates like me have shared these frustrations directly with the Department of Health and Human Services and the FDA, and we’ve provided input on what could be done to address the problem. Across administrations I sent emails, wrote op-eds, and met virtually and in person with senior career and political officials to discuss how we might address this intractable problem. One concept gaining traction in the community was process approval or interventional genetics for individualized medicine. In the fall, I took part in a public workshop co-convened by the Duke-Margolis Institute for Health Policy and the Rare Disease Innovation Hub at the FDA to examine individualized therapies and the regulatory environment. The in-person venue hit capacity and thousands tuned in online. At every opportunity I shared Wheeler’s story and how his condition and his robust data — he has been followed by the National Institutes of Health since his diagnosis — could make him an ideal example of who could be helped if such a framework existed, potentially reigniting interest in stalled therapies for his disease. This week I shared that story again at an HHS event and helped contribute to something remarkable happing in Washington. The FDA is embarking on a groundbreaking new approach it’s calling the plausible mechanism framework. The draft guidance released this week lays out the details of this framework, focusing on treatments that directly address the underlying root cause of a disease. The FDA is applying its authorities to enable patients with different genetic mutations to receive treatments under the same approval. If this draft becomes policy, once a therapy is approved, future patients with different genetic mutations may be able to receive individualized versions of that therapy under the same original approval. This is a third bridge. Think of it as a two-lane roadway designed for thousands of smaller cars, each carrying a few precious passengers — children with specific genetic mutations. The “toll” for the car to cross the first time looks much like the superhighway, requiring rigorous proof and scientific validation. But once the bridge, and the car, are proven to be safe and effective, once a threshold is reached, subsequent trips across carrying different passengers (different mutations, but using the same therapeutic platform or strategy) can cross without paying the full toll, treating drug development like a ‘genetic surgery’ not just a clinical trial. This framework is still holding individualized therapies to the same standards but doing so in a way that makes sense for the patient and disease context. It is an important addition to the other tools the FDA has and should continue to use like accelerated approvals and priority review vouchers. For families like mine, this isn’t abstract policy. It’s the promise of more time, better quality of life, and eventually, as we reach children earlier, a life never knowing disease. This guidance is a testament to what’s possible when our government works smarter to deliver results for American families and usher in an era where no child is left behind because their disease is rare. While this is an important foundational step to driving innovation, there is of course more to do, including mechanisms for data sharing, basket development plans, and more clarity on chemistry, manufacturing and controls. During the next 60 days, as the agency seeks comment on the draft guidance, it will be important to hear from stakeholders where more is needed or how the agency might approach some of the known unknowns from those who have been doing this one child at a time. It will take the full ecosystem — regulators, researchers, payers, providers, and industry — to work together to take this guidance and translate it into getting individualized treatments to patients. Wheeler will turn 7 in May and to a casual observer looks like an exuberant young boy. He loves climbing, jumping, being chased, playing hide-and-seek, listening to music and his “tonies,” and watching his favorite characters and movies on TV. But spend more than 15 minutes with him, and you’ll notice his gaze is off — due to the macular degeneration like loss of his vision — and that he has under-eye circles from inability to get a full night’s sleep even with medications to help. He struggles to remember the names of his favorite characters as childhood dementia creeps in and uses his hands to eat as the fine motor skills needed to use utensils lead to meltdowns or simply not eating. He is constantly moving, unable to sit still as his brain cannot quiet and often speaks in “scripts” to communicate. But despite all this we celebrate the wins big and small — he can now count to 10, and after a year of working he can legibly write his first name. This new guidance is another win. Today, for Wheeler and millions of kids like him, the bridge we’ve been praying for is finally being built. Judy Stecker is a rare disease mother and advocate and served as assistant secretary of public affairs and deputy chief of staff at the Department of Health and Human Services.