Sporting success for teenager born with rare disease

28 Feb 2023, 10:14 a.m.

Photo of Riley using gymnastics equipment - holding self up with arms, with legs in the air

Did you know GOSH sees more seriously ill children with rare diseases than any other UK hospital?

Riley is just one of those children.

While still in the womb, Riley was diagnosed with a rare genetic condition. Severe combined immunodeficiency (SCID) causes children to be born without a working immune system.

Riley received a cord blood transplant at GOSH at six weeks old.

Now 15 years old, he’s thriving. He recently joined the national gymnastics squad and hopes to become a professional gymnast one day.

Below, his mum, Karen, shares their inspiring story so far.

A family history of SCID

"I had a brother who died of SCID at GOSH when he was 19 months old," Karen says. "It's an X-linked condition in our family, so the females in our family are carriers, but it's only boys who get it."

When Karen fell pregnant with her first child, Jordan, and found out he was a boy, she thought it would be fine. "I had been tested as a baby and told I wasn't a carrier," she says. However, when he was born, the family discovered he had SCID.

"As a baby, Jordan had a bone marrow transplant and chemotherapy to treat the condition. He was very, very poorly," Karen explains.

Karen's second child, Kain, wasn't diagnosed with SCID, but when she fell pregnant with Riley in 2007, she was referred to GOSH straight away. Riley was diagnosed with SCID before he was even born.

"Luckily for us, [GOSH] knew our family well as Jordan was treated there," she explains.

Karen asked doctors to take some amniotic fluid to help identify a future cord blood donor match for Riley.

Cord blood, or umbilical cord blood, is a rich source of stem cells. Cord blood transplants are sometimes used to treat patients with various conditions – from immunodeficiencies (like Riley) to blood cancer.

Trialling a new method

Riley was six weeks old when Karen heard there was a cord blood match from an unrelated donor.

"The donor's cord blood was so close to Riley's that it was like that of a sibling's, which is unusual," she recalls. "I am forever thankful to whoever donated that cord blood, and if they could see Riley now, they would be amazed. I would love to meet that family.

"Because of the close match with the cord blood, [Riley's team at GOSH] said to me that they would like to give Riley the transplant without chemotherapy and that no worldwide centre had done that before," Karen explains. "Because I'd already had a child go through chemotherapy and knew the risks and the long-lasting effects of it, I decided to go ahead with the new method."

Initial complications following blood cord transplant

Riley experienced some complications with the transplant at first.

"[He] became very unwell when his body started to reject the new cord blood," Karen says.

"He got graft versus host disease, so went on all the anti-rejection drugs. I was really worried with Riley because it was all so uncertain...Having gone through it all before, it was almost more worrying because I knew what was to come. Riley would get sicker before he got better."

Karen recalls how two specialist nurses told her that Riley was one of the sickest children in the hospital that night.

"It was traumatic for me but thankfully Riley was so young that he doesn't remember it all happening," she adds. "It must be really hard to have an older child go through it."

Karen and Riley's dad, Keith, feared the worst. One of Karen's first thoughts was that he hadn't been christened. "The hospital was fantastic, Christening him the next day. Jim the Chaplain went to do the Christening in Riley's hospital room."

Photo of Riley as a baby, lying down and looking at the camera. Bandage around hand and tube in nose and across chest.

Sterilised toys from the Play team at GOSH

Thankfully, Riley pulled through.

Karen remembers how the Play team and other hospital staff helped keep Riley and his older brother Jordan entertained during their hospital stays.

"The hospital and its staff become your family – we all lived at GOSH for months. The Play team were great and brought toys in for Riley. The toys all had to be sterilised, but he absolutely loved them.

"I was allowed into the room with Riley, but we couldn't have any other visitors for a while.

Karen explains how they remained vigilant when they finally got home from GOSH.

"...We couldn't go to playgroups or anything like that," she says.

"Jordan, bless him, was in year nine at the time, and everyone in the year group kept getting chicken pox, meaning he had lots of time off school to avoid giving chicken pox to Riley.

"My husband was still going to work but would come home and put his clothes straight in the washing machine and then have a shower before coming in to see Riley.

"It was hard, but we did what we had to do."

During this time, Riley had a Hickman line.

"[GOSH staff] had told me how to change the dressing myself to lessen the risk of infections being brought into our home by nurses," Karen says. "I learnt how to do the Hickman line and Keith did the infusions of immunoglobulin."

30th birthday spent at GOSH

Unfortunately, Riley's body began rejecting the transplant again. Karen returned to GOSH with him, celebrating her 30th birthday on the wards.

"I had macaroni cheese from the canteen," she recalls. "It was hard going back in again. [Riley] had a rash on his skin and had issues with his gut, which they had to get under control before his liver began suffering.

"At the time, I was breastfeeding him as it was the only real way I could feel like I was in control, but he wasn't tolerating the feed.

"The consultant told me that I had to stop feeding him but I found it so difficult to just stop suddenly. It was one of the hardest things from that time. My body desperately wanted to feed him but I couldn't."

"Incredible" outcome for Riley

Riley's doctors told his family that they weren't planning on doing the cord blood transplant procedure without chemotherapy again.

Despite this, Karen describes how well Riley has responded to the treatment. "Riley's outcome has been incredible," she says. "Other children who have had SCID are still on immunoglobulin, a type of antibody. Riley isn't on immunoglobulin anymore. Doctors are still surprised by that, but I think it's because he didn't have any chemotherapy. In fact, he's not on any medication now which is incredible for a SCID child.

"Riley does get more infections and colds than the average person, and he's had lots of doses of MMR because his body can't respond to measles. But he has got quite a good immune system and he does eventually fight off infections," she says.

"Riley is quite unusual in the sense his b cells aren't working like they should be. However, he is very fit and healthy so he's in the best possible position to fight off the germs.

"Winter is always a nightmare as he'll often get run down, and it can be quite scary," Karen says. "But he does do a lot. He pushes himself to do as much as he can, which I think is incredible."

Riley explains how travelling can be tricky for him. "My condition impacts me when I have to travel," he explains. "I was planning on going to Bali for my uncle's wedding and GOSH recommended I didn't go because they didn't think my body would respond to all the vaccines I needed."

Making the national gymnastics squad for the first time

One of the most impressive things about Riley is his huge sporting success, particularly in gymnastics.

Karen says, "I was worried about Riley going to clubs in the first place because he was likely to pick up more infections. At the same time, I knew it was vital for his wellbeing to be around people his age and to try new skills."

Riley has recently made the national gymnastic squad for the first time. Karen explains, "Making the national gymnastics squad is incredible, let alone for someone who was given a diagnosis of SCID. When you get a diagnosis it's devastating - you think you're going to lose your child. But now I want to celebrate how far he's come. Not only is he fit and healthy but he's representing his country in a sport he loves. I hope he can provide some hope to other families going through the same thing."

Riley adds, "If I come top three at nationals I'm invited to a training camp with the English and British team. I've met a few of the high end gymnasts and have watched them compete. It's important to see where I could end up – I find it really motivating. I won a gymnastics competition ... and Max Whitlock was there because his nephew was competing, and Max gave me my medal. I hope to be a professional gymnast when I'm older."

Looking ahead

"The hope [is] that Riley will continue to be well," Karen says, looking ahead. "But every female child Riley has when he's older will be a carrier. Jordan was the first boy in my family to be cured of SCID and we were lucky to find a cord blood donor for Riley that was like a sibling, which was very unusual.

"What concerns me most is that Jordan's generation was the first to have a transplant and survive it, so what that means long term I don't know for sure. But I just want people to know there can be real success for those diagnosed with SCID. It would have really helped me to see these success stories when I had Jordan.

"We were told that Riley was the only one who's had a transplant done this way, and no worldwide centre has ever done it. Riley is even mentioned in lectures. We could never have expected that Riley would come as far as he has, and we just feel so lucky."

A unique opportunity to transform the lives of children like Riley

GOSH Charity is the UK's largest dedicated charitable funder of child health and GOSH sees more seriously ill children with rare diseases than any other UK hospital.

With only around 5% of UK research funding being spent on projects relating to child health, we have a unique opportunity to help GOSH transform the lives of these children, by funding research in key areas where we know we can make the greatest difference.

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