A Mother's Fight to Save Her Son With an Experimental Gene Therapy

Jo Kaur never expected to become a drug developer. She was a civil rights attorney living a normal life until her son Riaan was diagnosed with Cockayne syndrome at 15 months old. Doctors delivered crushing news: his life expectancy was five years.

Cockayne syndrome is an ultra-rare genetic disorder that causes progressive disease and early death. It wasn’t even on prenatal screening tests. Riaan’s CSA gene, critical to DNA repair and cellular health, does not function properly. His small size, cataracts in both eyes, and delayed developmental milestones painted a picture of a child facing an impossibly short life.

But Riaan was also happy, social, and full of life. And Kaur loved him more than she’d ever loved anyone. That love became fuel for an extraordinary journey.

From Heartbreak to Action

The first night after diagnosis, Kaur couldn’t imagine how her body would survive the grief and shock. But she woke up, and something shifted. She couldn’t accept the diagnosis as fate. Through relentless storytelling, public advocacy, and fundraising campaigns, Kaur and her team raised $4 million. They connected with scientists who understood the urgency and moved an experimental gene therapy from concept to clinic.

It was a grueling process. As a lawyer, Kaur found the FDA regulatory process “stressful, high-stakes, and invigorating.” Thirty-day review periods meant answering clarification questions with days to respond. A single incorrect answer could derail everything. But after years of day-and-night work, the exhilarating email came: they were cleared to proceed.

Yet clarity didn’t come with approval. Kaur and her husband Richie faced an agonizing decision. Their son was now six years old, happy and stable, never hospitalized. Was it right to expose him to brain surgery, a week-long hospital stay, and months of immunosuppression? Gene therapy comes with real risks: patients have died from liver failure, catastrophic inflammatory responses, and cerebral edema.

The Weight of an Impossible Choice

They spent long nights on the couch, sometimes bickering, feeling the burden of a decision no parent should ever face. Riaan, who is non-verbal, couldn’t consent on his own. But when Kaur asked him if he wanted the therapy and requested he touch her nose, he immediately complied. She took that as a sign.

The surgical team, affectionately called “Batman” in gene therapy circles, helped them think through the hardest questions. A trusted researcher told Kaur he would proceed if Riaan were his own child. That confidence mattered.

On April 21, 2026, Riaan became the first child in the world to receive this first-in-human gene therapy for Cockayne syndrome. As Kaur handed her son to the surgical team, she saw the actual AAV9 dose in a ziplock bag. The moment felt surreal and sacred all at once.

When the procedure was complete, Riaan screamed like she’d never heard before. Her beautiful boy looked terrified, wires emerging from every part of him. But the surgical team assured her he was okay. He just needed his mom. Within days, he was smiling and playing balloon volleyball again.

What Comes Next

It takes months or years to determine if gene therapy truly works. More than three months post-treatment, Riaan remains clinically stable. He wakes up demanding his favorite song, “The Circle of Life,” ready to play with his brother. The changes are encouraging, but early.

Kaur and her team manufactured enough drug for multiple children. They’re working to gain FDA approval to treat others with Cockayne syndrome. But Kaur is clear-eyed about a troubling reality: parents shouldn’t have to become drug developers because a disease is too rare for pharmaceutical companies to pursue. No family should raise millions, learn regulatory strategy, and manufacture their own treatment.

Yet love makes the impossible possible. Kaur would do it all again, not just for Riaan but for the children who may come after him. In an era when rare disease treatment remains one of medicine’s cruelest gaps, her story raises an uncomfortable question: How many miracles should depend on a parent’s determination and resources?

Source: HuffPost