Rhys Evans hit the headlines in 2002 as the ‘bubble baby’, a child with no immune system, whose life was saved by pioneering gene therapy partly funded by Jeans for Genes.
At nine months old Rhys was diagnosed with a serious immune system disorder called Severe Combined Immunodeficiency (SCID), a life-threatening condition caused by a single mutated gene. At the time, a bone marrow transplant was the only treatment available, but it was an incredibly difficult procedure.
Professors Bobby Gaspar and Adrian Thrasher at London’s Great Ormond Street Hospital were working on a revolutionary type of therapy where a working copy of the gene could be inserted into the patients’ own cells using a modified, harmless virus. Rhys became the first child to receive this ground-breaking gene therapy funded in part by Jeans for Genes, and after a few weeks his immune system started to develop. Rhys is now 19 and has been able to live a full and active life.
Back in January 2001, Rhys was in and out of hospital with chest infections and diarrhoea. His body had begun to weaken as soon as the new-born immunity acquired from his mother wore off. His condition deteriorated until he was critically ill with pneumonia and placed on a ventilator. His weight dropped from 14lb 6oz to 8lb, lower than his birth weight.
Rhys was diagnosed with a serious immune system disorder, Severe Combined Immunodeficiency (SCID), more commonly known as ‘bubble baby’ syndrome. It is caused by a single mutated gene. It was so life-threatening even the common cold could have killed Rhys. He was admitted to a sterile room at Great Ormond Street Hospital.
Mum Marie Evans, 49, from Treharris, near Cardiff, says: “We were told Rhys was a sitting duck, open to infection. He was gradually deteriorating, and I didn’t think he’d make it. The search started for a bone marrow donor but there was no-one that was an exact match. Then we were asked if we would take part in a brand-new trial of gene therapy. That was the hardest decision my husband Mark and I had to make, and we are very fortunate that we have come out the other side.”
In July 2001, aged ten months, Rhys became the first child in Britain to undergo the pioneering gene therapy.
The medical team took bone marrow from Rhys, implanted a synthetic gene into the bone marrow and returned it back to him via an intravenous drip. Rhys had to stay in sterile conditions until doctors could tell if the procedure had worked. A CT scan showed that his thymus gland was growing and blood tests indicated he was starting to make his own antibodies. By October he was well enough to go home.
Marie, a nursery teacher, says: “Rhys still had to stay in the house and avoid infections. We had to rush back to Great Ormond Street quite a few times, but he gradually got better.”
The gene therapy was so successful that it has since been used to treat thousands of children with other conditions such as Wiskott–Aldrich syndrome, Chronic Granulomatous Disease and another rare form of SCID called ADA-SCID. Without treatment, life expectancy for these conditions is just a few years.
Growing up, Rhys had no idea of his place in medical history, or indeed any knowledge that he had such a serious medical condition until he was around 13 years old. He has a younger brother 15-year-old Alex, who does not have any health problems.
Rhys, now 19, explains: “My parents explained it was nothing for me to worry about, I just had to keep up with medication to keep me well. As a young child I would go to hospital each week for infusions of Immunoglobulin replacement therapy. By 2014 I was able to do this at home, through an injection in the arm or leg. I now inject myself, once a week, at home and it takes an hour. I also take a combination triple-strength antibiotic, Co-amoxiclav, to combat bacteria. If I have a cold, I take extra tablets. I am worried about the coronavirus as I will be at increased risk.”
Rhys adds: “The main problem I had growing up was that around the age of eight I developed warts on my feet which made it very painful to walk. I had treatment but ever since then I’ve had warts on my feet and hands, due to my body’s inability to remove the wart virus. I was bullied very badly in primary school because of the warts.”
Rhys lives in the family home and is currently on a gap year after finishing school. He hopes to work in IT. Rhys describes himself as a quiet person. He likes to go to the gym, enjoys playing computer games, listening to music and socialising with his friends.
Rhys says: “As long as I keep on top of the antibody infusions and the antibiotics, I can live a normal life. I can do anything anyone else can do. I wanted to celebrate how many lives have been saved by this amazing treatment. Around eight or nine other children have the same condition as me and over the years we have met up in children’s wards. It is amazing to see the genetic developments and how much the science has evolved over 20 years.”
Marie recalls that difficult time: “I don’t think Rhys remembers anything about that time – thank God he doesn’t. Nineteen years ago, we were in isolation with Rhys for eight months. When Rhys turned 18, I gave him the diary I had kept of the time we were in isolation and going through the whole treatment. He wasn’t that interested in it though, he’s a typical 19-year-old. He did well in his GCSEs and then went on to do BTECs in IT and Science, gaining two distinctions.”
In 2018 Rhys was invited to speak about his experience at the Royal Institution Christmas Lectures.
“It was the first time I had sat back and listened to him describe his experience” Marie recalls. “It was emotional for everyone. It brings it all back. It has affected us as parents more than Rhys. It has made us stronger and made us appreciate what we have got. It makes us live life for today.”
Watch Rhys’s story on YouTube: https://www.youtube.com/watch?v=8fcXB0cf9DU