Prepared, Determined, Relentless: Walking Into C-Path for Galactosemia
Walking into the C Path Global Impact Conference this week, I carry more than a notebook and a name badge. I carry the weight of being a mother to a child with classic galactosemia, a nurse, a legislative advocate, and the principal investigator trying to take on sponsoring qualified biomarkers at the FDA. These are heavy hats to wear all at once. The responsibility feels overwhelming, but I know what is at stake. In ultra rare if I do not show up no one else will. We are ultra rare and taking care of rare kiddos and caregivers to adults. Its a full time job, to leave is difficult.
This morning my daughter Penelope was sick on the way to school, throwing up the entire drive. Leaving her behind with my husband is never easy. But I am here because this conference holds the key to whether she and 3,500 other Americans with galactosemia will finally see treatment options. If that requires me to step into rooms that were never designed for mothers like me, then so be it.
Preparation Is Not Optional
When C Path invited stakeholders to bring forward what they had, I took that seriously. I did my homework.
I prepared a 43 page burden of disease report, documenting 7.23 million dollars in preventable lifetime costs per patient. That figure is not abstract. It is speech therapy bills, missed wages, denied disability claims, and endless caregiving hours.
I pulled together a biomarker qualification package that includes galactitol, Gal 1 P, WBGO, and MRI endpoints. These are not speculative. They are based on decades of research and patient registry data.
I built slide decks, drafted letters of intent, and crafted targeted questions for FDA and industry leaders. I gathered family stories, from parents denied medical formula coverage to adults living with tremors and infertility, and wove them into evidence that regulators cannot ignore.
This is not just advocacy. This is infrastructure building for a community that has waited far too long. I prepared as many one liners and questions to make an impact.
Why C Path Matters
FDA guidance on biomarkers and surrogate endpoints was never written with ultra rare diseases in mind. That gap has left therapies like govorestat stalled despite evidence of safety and benefit. Rare disease families are forced to prove reasonable likelihood again and again while organ damage continues.
C-Path can change that. By linking galactosemia to established biomarker pathways in metabolic and neurologic disease, we can create a bridge that accelerates treatments not just for 3500 galactosemia patients, but for millions with related conditions.
The stakes are enormous. The opportunity is greater.
A Mom on a Mission
I often hear the phrase just a mom. As if being a mother disqualifies me from driving scientific and policy change. Yet here I am, carrying the science, the policy, the financial case, and the lived truth of this disease.
Leaving Penelope behind never gets easier. But she is why I walk into these rooms. She throws up in the car, and demands to go to school anyway. She is determined, and well so am I. She is why I carry the liability of biomarker sponsorship. She is why I refuse to let our community be overlooked.
C-Path leaders asked for engagement. I am showing up with the data, the stories, and the strategy. Now I ask in return: stand with us. Help us connect what we know to what we can deliver.
Because reasonable likelihood is not enough anymore. Our children deserve reality.
