The biggest risk in the rare disease community is not trying something. It is running out of time before something is tried.
Twenty-one years ago, I sang at my cousin Samantha’s funeral, witnessing firsthand the final stage of Sanfilippo syndrome: death.
Standing in front of a church filled with people who loved my cousin for her eleven short years of life, I was struck by the devastation that Sanfilippo syndrome left in its wake. From the time she was a toddler, I watched Sanfilippo syndrome silently take from Samantha— stealing her words, her balance, her smile, her laughter, her ability to swallow, until there was nothing left to take.
Twenty years later, I am watching the same disease move through my daughter Lottie in the same order, on the same schedule, with no approved treatment to slow it down.
In some ways, Lottie's timing should be better — there is more research and more therapies in development than when Samantha was alive. But Lottie also has Down syndrome, which bars her from most clinical trials. She is living in the era of potential treatments and cannot access any of them. This is why the FDA needs to put people like her first — and that is not happening.
Most moms know the FDA exists and that's about it. I've had to learn a lot more because of Lottie. For example, FDA Advisory Committees (“AdComms")that assess evidence behind potential therapies and make recommendations that shape whether treatments ever reach patients. These Advisory Committees could determine whether or not my daughter receives potentially life-changing treatment. Their members are typically selected for broad scientific credentials — the kind that looks impressive on paper but do not necessarily include any firsthand experience with the disease being evaluated.
Sanfilippo syndrome affects roughly one in 70,000 children. It is progressive and universally fatal. There is no approved treatment. A researcher may be deeply qualified and still have never watched a child lose the ability to recognize her mother's face.
When an AdComm member has never sat with a Sanfilippo family — has never seen the disease inside a home — it is worth asking what they picture when they delay a therapy another 12 to 18 months. Do they imagine a little girl losing her ability to eat or drink safely? Do they think of three younger siblings growing up without their big sister?
To a regulator, another year of review may sound like prudent science. To a family like mine, it can be the year a child crosses a threshold she cannot come back from. Sanfilippo does not wait patiently for paperwork. It destroys neurons on its own schedule, and that schedule does not accommodate institutional timelines.
The biggest risk in our community is not trying something. It is running out of time before something is tried.
Advisory Committees reviewing rare disease therapies should include members with genuine disease-specific expertise, not just broad scientific backgrounds. Those experts must include patients and advocates — people who have earned MDs through life experience, not in the classroom. They should sit on these committees not as symbolic additions but as voting members who live the disease being evaluated.
When AdComms recommend delays, families deserve transparent explanations that acknowledge what those delays cost in neurological function, in lost milestones, in time. The FDA must reckon honestly with the fact that traditional clinical trial models often cannot be replicated in ultra-rare diseases where total patient populations number in the hundreds and have limited life expectancies.
Families should not have to become experts in regulatory policy simply to make the case that their children are in need of life saving treatments proven to be safe and effective. That's what experts on the AdComms are for.
I am the mother who used to photograph every milestone imagining that one day I would look back thinking about how far Lottie had come, but now I photograph every milestone because I do not know how many will remain.
I am the mother anticipating which skills Lottie might lose next before a treatment reaches her.
I am the mother who buried a cousin and is raising a daughter with the same diagnosis, and who is asking — plainly, directly — for the people with authority over that outcome to understand what they are actually deciding before they cast their votes.
Lottie is not a data point. She is a precious little girl like Samantha was. And I refuse to wait for another funeral before the FDA stands with patients.
How many more funerals must we attend before the FDA starts to listen?
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