Meet Jo Kaur and Richie DiGeorge, parents of Riaan, a vibrant 5-year-old boy who has Cockayne syndrome, a rare and debilitating genetic disease. In this podcast episode, Riaan’s parents take listeners on an emotional journey through their lives. They reflect on their darkest days, their resilience, their small victories and their enduring hope.
“I don't know where we would be if we didn't have this hope on the horizon.”
What is Cockayne syndrome?
Cockayne syndrome is a rare, neurodegenerative disease that largely affects children and young adults. The disorder is characterized by short stature, an abnormally small head size (microcephaly) and neurologic abnormalities that can lead to intellectual disability.
Richie DiGeorge carries his son, Riaan, on his shoulders. Photo: Bryan Goodchild
Riaan Photo: Jo Kaur
Riaan smiles during physical therapy session with Alexandra Capolla, DPT. Photo: Bryan Goodchild
Riaan plays a balloon toss game with his physical therapist. Video: Bryan Goodchild
Riaan and his mother, Jo Kaur, smile for a selfie. Photo: Jo Kaur
Listen and subscribe to all episodes of Rare Diseases, Real Stories
To learn more about the Riaan Research Initiative, visit the foundation’s website at:
Cockayne diseases resources and support
National Initiative for Cockayne Syndrome
The Cockayne Syndrome Foundation
National Organization for Rare Disorders
Translational Institute for Molecular Therapeutics at UMass Chan Medical School
Viljem Julijan Association for Children with Rare Diseases
Private Facebook Support Group for Families:
Share Riaan’s story and build awareness using the following hashtags:
#RareDiseasesRealStories, #RareDiseases, #podcast
