A Rare Disease Story from Colorado
By Amber Reynolds
A diagnosis doesn’t change a child, but it changes a family’s ability to hope, to plan, and to move forward. Families deserve that chance.
My name is Amber Reynolds. I am a Colorado mom, educator, and rare disease advocate. My daughter Harper has Okur-Chung Neurodevelopmental Syndrome, an ultra-rare genetic condition caused by a mutation in the CSNK2A1 gene.
Before we had genetic testing, we had no answers.
I knew something was different about Harper from an early age, but no one could tell me why. As a mother, that uncertainty was devastating. I blamed myself. I questioned every decision I had ever made. I spent years wondering what I did wrong, why my child was struggling, and what her future would look like without a diagnosis to guide us.
Our diagnosis came late, not because we were not seeking help, but because genetic testing was not easily accessible and was not covered the way it should have been. That delay cost us time, time for early intervention, time for the right supports, and time to participate in research that could help Harper and others like her.
When we finally received Harper’s diagnosis, everything changed.
I found answers to the “why.” I found language for what our family was experiencing. I found a community of families walking the same road. And where there had once been fear and isolation, there was finally understanding and hope.
Today, 30 million Americans live with a rare disease. Yet families continue to face barriers to basic genetic testing and specialty care. For ultra-rare conditions like Okur-Chung Neurodevelopmental Syndrome, fewer diagnoses mean fewer research opportunities, and without research, there is no path toward treatments or cures.
That is why I am here.
I am asking for increased access to genetic testing and expanded telehealth across state lines so Colorado families can reach rare disease experts wherever they are. Geography should not determine whether a child receives answers. Insurance coverage should not determine whether a family gets hope.
These changes would shorten diagnostic journeys, reduce suffering, and improve lives, not just for Harper, but for thousands of Colorado families still searching for answers.
Thank you for your time, your leadership, and your support.