Riaan Research Initiative
Guest post by Jo Kaur of Riaan's Newsletter
This is a guest post by Jo Kaur of Riaan's Newsletter.
Please read this post, subscribe to Riaan's Newsletter, and support the Riaan Research Initiative.
My husband and I are new parents, in our 30s, a teacher and a lawyer respectively. We had just gotten married when we found out I was pregnant. We were elated. In December 2019, on a dark and snowy night, our beautiful Riaan (pronounced Ree-ahn, not Ryan) was born. A little on the small side, but otherwise great.
We took Riaan home to begin our lovely life as a family, loving him with the intensity of a thousand suns. Unfortunately, he soon began to experience issues, he wasn't seeing well, and he was developmentally delayed. Yet he continued to progress as a sharp, sweet, kind, and lovely little boy.
When Riaan turned 15 months old, his geneticist called us and said, "We know what's going on with Riaan and I'm afraid it's not good news." I stopped breathing.
He said he was diagnosing Riaan with the most severe type of a fatal neurodegenerative genetic disease called Cockayne Syndrome, which had not been tested for during our prenatal genetic screening, and had an average life expectancy of five years. It's so rare it impacts only a few hundred children in the world. There are no treatments. The disease has a vile and vicious pathogenesis, and is always fatal.
The intensity of our grief was unbearable. But we weren't going to accept that there was nothing we could do.
We spoke to researchers. We spoke to other parents of children with rare diseases (it turns out there is a huge community). We spoke to biotech companies.
We learned there is a LOT we can do. And as with everything else, it often comes down to funding and priorities.
Three months after our diagnosis, we launched our research organization, Riaan Research Initiative, to accelerate and fund gene replacement therapy research for Cockayne Syndrome (CSA mutations). We are working with the Horae Gene Therapy Center at the University of Massachusetts Medical School to research and develop a treatment to save Riaan's life, and that of other children with the same mutation.
We are the first research organization for this disease. Our goal is to raise a million dollars by December, Riaan's second birthday, to jumpstart and keep this program going. We are working to get the therapy administered to Riaan within 2 years.
Follow our personal journey at https://riaanresearch.substack.com
Visit our website: https://www.riaanresearch.org
Make a tax-deductible donation: https://riaanresearch.org/donate/