NKH Crusaders’ FDA Patient Listening Session: A Milestone in Rare Disease Advocacy

In December 2023, I had the privilege of leading something I had dreamed about for years, a Patient Listening Session with the U.S. Food and Drug Administration (FDA) focused entirely on Nonketotic Hyperglycinemia (NKH). For me, it wasn’t just another advocacy event. It was a deeply personal milestone. NKH Crusaders’ FDA Patient Listening Session: A Milestone in Rare Disease Advocacy

Thomas at his high school graduation

At the time, my son Thomas was 19 years old, navigating life with atypical NKH with the same determination he shows today. Over the years, I had watched him face challenges no child or adult should have to endure. From misdiagnoses to countless hospital stays, to living with the toxic side effects of the only available treatments, Thomas’s journey had been both heartbreaking and inspiring. Like so many NKH parents, I had spent countless nights wondering if I was doing enough, if there was more that could be done, and how we could create a better future for him and every child like him.

That meeting with the FDA mattered so much because it gave us the chance to put a human face on NKH for the very people who will help shape the future of treatments. Eight incredible families from the U.S. and the U.K., representing nearly every form of NKH, joined me to share their stories. We spoke about:

• The difficult and often misdirected path to diagnosis

• The daily realities of managing severe symptoms like intractable seizures, low muscle tone, developmental delays, and feeding challenges

• The emotional and physical toll NKH takes on the entire family

• The urgent need for safer, more effective treatments and the willingness of our community to participate in clinical trials

  
  

One of the most powerful parts of the day was hearing from families who, like mine, had lived with NKH for years, and from those who were still in the early, raw stages of the journey. Each story was different, but the message was the same: NKH robs our children of so much, and current treatments are not enough.

We also shared the progress we had made with the NKH International Patient Registry, developed in partnership with the Coordination of Rare Diseases at Sanford. With 163 patients already enrolled at that time, the registry was, and still is, a vital tool for research and for ensuring clinical trials are designed with patients’ real-world needs in mind.

As I sat in that room and listened to parents and caregivers pour their hearts out, I felt a mix of pride, hope, and determination. Pride in our NKH families for speaking so openly and courageously. Hope that the FDA now understood just how urgent our need was. And determination to keep pushing, because we are ready.

For years, NKH parents have carried the unspoken fear of what tomorrow might bring. With every cough, every seizure, every unexplained symptom, we have wondered, “Is this the beginning of the end?” My promise to Thomas, now 21, and to every NKH child is that we will not stop. We will fight for better treatments, for a cure, and for the chance for them to live the lives they deserve.

That meeting with the FDA was not the end of our journey. It was the start of a new chapter. One where our voices were heard, our needs were recognized, and our path toward a cure became clearer than ever.

We are ready. And with the continued support of our community, researchers, and regulatory partners, I believe change is coming.

Kristin Archibald Founder, NKH Crusaders Proud mom to Thomas