CNBC Cures and Extraordinary Progress

The Science Is Rewriting What We Thought Was Set

For years, many in our community quietly carried a belief we didn’t want to hold: that if a milestone was missed, it was gone forever. We didn’t accept it. But without proof, hope was often all we had.

Then came a moment that changed something.

While watching CNBC Cures, those of us tuned in heard Dr. Stan Crooke say something we haven’t been able to shake:

“I was taught that for developmental delays, if you missed a milestone, it’s forever. We now know that is categorically wrong. We now have 19-year-olds acquiring skills they never had. We have a 15-year-old boy with an SCN2A mutation...who never walked, who now walks with his own volition. If you’d have asked 6 years ago, ‘could that be possible,’ I would have said no. We stand at the edge of an opportunity that is truly extraordinary and if we don’t take advantage of it, shame on us.” — Dr. Stan Crooke, Founder of Ionis and the n-Lorem Foundation

That is not a small statement. That is a door opening: one that didn’t exist a few years ago.

A Broader Shift is Underway

The CNBC Cures initiative, led by Becky Quick—herself a rare disease mom—brought together patients, scientists, industry leaders, and investors in a way that felt different. The response was extraordinary, making clear that rare disease has reached the national stage.

What the Summit made plain is that while drug development for rare diseases remains genuinely hard, it is possible. For the first time, it feels like the system is beginning to organize itself around that possibility. The right tools exist. The right people are at the table. What’s needed now is momentum, and communities like ours are part of what creates it.

From Possibility to Proof

When the FAM177A1 Research Fund was founded, we wanted to believe it was possible to reverse the course of this disease, but we didn’t have proof. It was blind hope that set everything in motion. Now, with real-life evidence of real change made possible through precise genetic treatments, we’re not just running on blind faith anymore. We’re powered by proof.

Gene-based therapies are being designed to address disease at its root. Drug repurposing approaches are identifying existing compounds that may offer faster pathways to treatment. Machine learning and research models—including patient-derived cells and 3D brain organoids—are enabling more precise study of conditions like FAM177A1. These approaches are already central to the research strategy our fund supports.

Every Patient Matters

One of the clearest messages from CNBC Cures was this: finding patients is not just an administrative task, it is a scientific imperative. Each diagnosed individual contributes to a clearer picture of how FAM177A1 develops and progresses. That data attracts research interest, supports clinical development, and opens doors to partnership.

This year, according to just one genetic sequencing company, five more individuals were identified with FAM177A1. That doesn’t happen by accident: it happens because this condition is now recognized as an established genetic disorder, and because this community helped put it on the map. We understand that these diagnoses carry grief and confusion, and we look forward to connecting with and supporting these families.

Learning From Those Ahead of Us

Progress in rare disease is built on shared knowledge, and few examples are more instructive than what Allyson Berent and the Foundation for Angelman Syndrome Therapeutics (FAST) have achieved.

As both a scientist and a rare disease mom, Allyson speaks to something every family in our community understands: “We know the risk of doing nothing, which is so much greater, sometimes, than the risk of doing something.”

Her daughter Quincy, treated with an ASO (Antisense Oligonucleotide) therapy, moved from zero words to 27 words, and is now a safe, independent swimmer. That is not a statistic. That is a life changed. And it is a roadmap for what we are working toward.

This is Our Moment

Our children continue to grow and change. Time matters. But so does what we do with it.

The FAM177A1 Research Fund exists at the intersection of urgency and opportunity, and because of this community’s support, we are positioned to move forward with both. Funding enables research, strengthens partnerships, and ensures that FAM177A1 remains part of the broader movement advancing rare disease treatments.

We are no longer running on hope alone. We are powered by proof—and by every single one of you.