My Son’s Rare Disorder Led Me To Create A $4M Gene Therapy

Key Points:

• Jo Kaur’s 6-year-old son, Riaan, was the first child to receive a pioneering gene therapy for Cockayne syndrome, an ultra-rare and fatal genetic disorder causing progressive decline and early death.
• The gene therapy aimed to deliver a healthy copy of the CSA gene to Riaan’s brain to halt disease progression, representing a first-in-human treatment developed through intense advocacy, fundraising, and collaboration with scientists and clinicians.
• Despite the risks of gene therapy and immunosuppression, Jo and her husband decided to proceed after careful deliberation and support from medical experts, hoping not only to help Riaan but also to pave the way for future treatments in other children.
• Following the surgery in April 2026, Riaan remained clinically stable with some encouraging signs, though the long-term effects of the therapy remain uncertain and ongoing monitoring is required.
• Jo emphasizes the burden placed on families to develop treatments for rare diseases due to lack of pharmaceutical investment and views her efforts as a profound act of love and advocacy for Riaan and other affected children.