Our beautiful son, Riaan, was diagnosed with a fatal neurodegenerative disease called Cockayne Syndrome.
We are on the hunt for a cure.
Our names are Gurjot “Jo” Kaur and Richie Digeorge, and we live in New York City. We are the proud parents of Riaan, our radiant and enchanting little boy, and the most loving, social, kind, calming, and funniest kid in the world (we’re totally not biased). No matter what time it is in the day, or how he may feel, our clever Riaan is the life of the party, with a bright and beautiful smile and an unforgettable laugh that mesmerizes all who meet him. He is our first child, and our greatest blessing, descending from Punjabi Sikhs on his mom’s side, and Italian Jews on his dad’s side.
Unfortunately, we were devastated to learn that right around the time most other children excitedly begin elementary school, our sweet Riaan may face the end of his life.
On March 12, 2021, Riaan was diagnosed with Cockayne syndrome Type II, a fatal and devastating autosomal recessive genetic disorder. Riaan has the most severe type, with an average life expectancy of five to seven years.
We knew we had to act fast, and three months after his diagnosis, we founded Riaan Research Initiative, a 501(c)(3) non-profit organization with an exclusive mission of getting treatments developed for Cockayne syndrome.
"There's no cure."
"There's no cure." "There's nothing in the pipeline." "Just stay on top of his symptoms."" I'm sorry — we can't help you.""Science will get there — maybe one day."
That's all we heard. But we weren't going to accept the narrative.
Cockayne Syndrome is a complex multi-system disorder representing a failure in DNA transcription and repair.
The disease has a relentless and vicious pathogenesis, causing neurodegeneration, vision and hearing loss, global developmental delays, growth failures, ataxia, and tremors. It is also ultra-rare, impacting a few hundred children and adults worldwide. Children with Cockayne syndrome tend to die from respiratory ailments and/or kidney failure. There are no known treatments or therapies.
Our Scientific Advisory Board
Dr. Allison M. Bradbury
Dr. Martijn Luijsterburg
Dr. Karen Lim
Dr. Kanwaljeet Singh Anand
Dr. Hal S. Schwartzstein
Dr. Amita Ghuman
Dr. Brandon M. Henry
Riaan Research Initiative is dedicated to promoting and furthering translational scientific research to advance treatments for severe and life-limiting genetic disorders such as Cockayne syndrome. We aim to identify and facilitate projects to improve the lives of patients suffering from genetic conditions lacking approved therapies. We strive to bring together disease and translational experts with each other and affected patients, fund novel and intelligent research projects aimed at accelerating and converting medical and technological advancements into treatment, and educate the public and medical community about relevant developments. We are also a proud member of the Global Genes’ RARE Foundation Alliance.
