A quarter-century after becoming the first patient to receive a pioneering gene therapy for a life-threatening immune disorder, Rhys Evans now lives a normal life, working as stage crew at Butlin’s in Minehead, Somerset. Born with x-linked severe combined immunodeficiency (XSCID), Evans faced a future in isolation, but the treatment, developed at London’s Great Ormond Street Hospital, allowed his body to grow a functional immune system.
The therapy’s success, now validated in more than 130 people treated since 2001, demonstrates the tangible, life-altering impact that can arise from years of dedicated laboratory research and a bold clinical application.
Gene Therapy Protects Rhys for 25 Years
- A new gene was inserted into Rhys’s bone marrow, helping his body develop the immune system it was missing.
- This treatment has protected him for 25 years, allowing him to live and work without the constant threat of infection.
- Today the therapy is available to reduce the risk of serious infection or to cure the disorder, according to the NHS, offering an alternative to the chemotherapy or bone marrow transplant that were the only options in 2001.
The Science of the “Bubble” and Its Burst
Severe combined immunodeficiency (SCID) is not a single disease but a group of rare, inherited disorders characterized by a profound absence of immune function. The “boy in the bubble” moniker, most famously associated with American patient David Vetter, born in 1971, aptly describes the extreme isolation required to keep these patients alive. Prior to modern interventions, most infants with SCID did not survive past their first birthday.
Rhys Evans was born with XSCID, which left him at constant risk of life-threatening infections. Evans’s infancy was marked by severe symptoms: constant infections, failure to thrive, vomiting, and diarrhoea, leaving him too weak to survive without intervention. The only available options in 2001 were chemotherapy or a bone marrow transplant, a procedure described as “incredibly difficult.”
How Gene Therapy Rebuilt a Defense System
The mechanism of action involved taking 100ml of Evans’s bone marrow, inserting a new gene into it, and then injecting the bone marrow back into his body. His own bone marrow then regenerated his immune system with the new gene in it.
As Prof Adrian Thrasher, who pioneered the therapy, explained, “Then we waited – we didn’t do anything else. [Evans’s] own bone marrow regenerated his immune system with the new gene in it.” The proof of success came within weeks. When Evans contracted the flu shortly after his second birthday, his body was able to fight it off, demonstrating that his new immune system was operational.
A Global Shift in Treatment Access
Pioneering gene therapy, first administered 25 years ago, has helped Rhys Evans and others with SCID live normal lives, according to Prof Adrian Thrasher. The gene therapy had been worked on in a laboratory for 15 to 20 years by Prof Thrasher, from University College London, who developed it alongside experts from Great Ormond Street Hospital. More than 130 people have received the treatment since 2001.
| Aspect | Traditional Bone Marrow Transplant | Gene Therapy (as in Evans’s case) |
|---|---|---|
| Cells Used | Donor bone marrow | The patient’s own bone marrow, with a new gene inserted into it |
| Options Available in 2001 | Chemotherapy or bone marrow transplant | Gene therapy, first given to Rhys Evans |
| Track Record | A long-established, “incredibly difficult” procedure | More than 130 people treated since 2001 |
From the Laboratory to the Clinic
The gene therapy had been worked on in a laboratory for 15 to 20 years, said Prof Thrasher, from University College London, who developed it alongside experts from Great Ormond Street Hospital. “Eventually we felt we were ready to take that technology to patients, and Rhys was the first,” he said. Thrasher said they were confident it would work as they had done a lot of research.
Rhys Thrives with Ongoing Treatment
Today, at 26, Rhys Evans stands as a living testament to the therapy’s durability. He has overcome Covid twice and lives an active life. The only persistent reminders of his condition are a weekly antibiotic infusion and warts on his hands. More than 130 people have received the treatment since 2001, a fact that fills him with pride. “It’s incredible to see how they’ve developed as people,” he said.
“As a doctor, the most important thing for me is that he’s healthy.”
Symptoms & When to Consult a Doctor
SCID is a group of rare inherited disorders that cause major abnormalities of the immune system. The first signs are babies suffering infections more frequently than other infants, with coughs and colds that seem more severe. Affected babies may also feed poorly, have chronic diarrhoea, skin rashes and fail to gain weight normally. Any parent of a child showing these signs should consult a doctor promptly to discuss all treatment options, which today include measures to reduce the risk of serious infection or to cure the disorder, according to the NHS.
