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We Helped Create A $4 Million Gene Therapy For Our Son. Then We Had To Decide If We Should Give It To Him.
AOL.com • • health
Key Points:
- Jo Kaur's 6-year-old son, Riaan, is the first child to receive a pioneering gene therapy for Cockayne syndrome, a rare and fatal genetic disorder causing progressive disease and early death.
- The gene therapy aims to deliver a healthy copy of the CSA gene to Riaan's brain, hoping to halt disease progression and improve his quality of life, though its benefits remain uncertain.
- After years of advocacy, fundraising, and collaboration with scientists, Jo and her family faced the difficult decision to proceed with the risky, first-in-human treatment despite Riaan's advanced disease and potential side effects.
- The surgery was successful, and three months post-treatment, Riaan remains clinically stable with encouraging signs, but the long-term effects of the therapy are still unknown.
- Jo emphasizes the burden on families to develop treatments for rare diseases due to lack of pharmaceutical interest, advocating for better support so parents don’t have to become drug developers themselves.
