A recent medical breakthrough resulted in the successful treatment of a child with a rare genetic disorder with a personalized CRISPR gene editing therapy developed at lightning speed thanks to the work of researchers at Children’s Hospital of Philadelphia (CHOP). It’s the kind of story that brings hope to rare disease communities watching from the sidelines- but that can also be accompanied by heartbreak for those still waiting on better treatments for their loved ones.
The Question We All Ask
Understandably, families affected by rare diseases like Dravet syndrome are asking: If this can be done for one child, why can’t it be done for ours?
It’s an incredibly important—and complicated—question. And while there are real barriers, the landscape is shifting.
Why It’s Not So Simple
The pace at which a new therapy moves from lab to patient is guided by a balance between two key things: treatment of unmet medical need and safety. In a perfect world, we would know a therapy is 100% safe and effective before ever giving it to a human. Since that’s not possible, scientists start with rigorous testing in cell and animal models. Only after that do therapies move into human studies, where the goal is to expose as few people as possible to unknown risks.
In the recent case at CHOP, the child had a uniquely urgent medical situation—facing a very high risk of death in a short period with limited alternatives—and he was the only patient receiving that specialized therapy. This kind of scenario is often called an ‘n of 1’ trial, where there is only one known patient who could benefit at the time, and no time or ability to conduct broader studies.
Dravet Syndrome Is Rare, but not ‘n of 1’
Dravet syndrome, while rare, affects tens of thousands of people globally (1 in approximately 16,000)—meaning clinical trials can happen. That’s a good thing, because it means we can gather more data about safety and effectiveness and move forward toward approvals that could provide broad access. But it also introduces complexity to a ‘lightning speed’ scenario. Imagine if a therapy were immediately approved without adequate testing, and thousands of patients with Dravet syndrome were rushed to receive it—only to learn it was unsafe or ineffective. The consequences could be devastating.
Even when a treatment isn’t harmful, an ineffective therapy can still do damage, especially with genetic therapies that are invasive, sometimes irreversible, and expensive. Treatment with some genetic therapies might also prevent patients from trying other therapies down the line. So even though moving more slowly is painful, the intention is to minimize the risk of harms.
Still—This is Deeply Personal
If you’re a parent watching your child suffer from the impacts of a rare disease while time ticks by, these timelines can feel incredibly frustrating, heartbreaking, and infuriating. You see treatments moving forward on rapid timelines for another disease—and you wonder why that can’t be your child. It feels unfair. And you’re not wrong to feel that way.
Here’s What Gives Me Hope
The truth is, these conversations are happening across the board including researchers, biotechnology companies, government officials and members of regulatory agencies, clinicians, patients and families. The urgency is being heard. The frameworks are evolving in ways that will expedite treatments without major tradeoffs to moving safely.
More and more, we are seeing regulatory bodies open to flexible trial designs, faster reviews, and innovative paths forward for rare disease therapies. Stories like the one from CHOP don’t just help one patient—they push the boundaries of medicine for all of us. They spotlight what is possible, and they help build the case for smarter, faster, and more compassionate systems that balance safety and urgency.
Families living with Dravet syndrome and other rare diseases have every reason to demand more, but understanding the balances and trade-offs can help us all advocate for the best paths forward. And I believe we’re moving in a direction where more is going to be possible.
Stay tuned for next week’s blog where we will dive deeper into some of the cutting edge advancements happening in genetic therapy and precision medicine.
