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James and Samuel: X-linked lymphoproliferative disease (XLP)

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James and Samuel

James and Samuel's story

X-linked lymphoproliferative disease (XLP)

Brothers James and Samuel both have X-linked lymphoproliferative disease (XLP) – an extremely rare and life-limiting, inherited disease. The boys both underwent bone marrow transplants and youngest Samuel is doing well. Sadly, James suffered extensive brain damage and requires round-the-clock care.

Rachel and Paul’s eldest son James was a lively, articulate boy, who loved to sing, run and climb. However, a few months after he turned three, he was taken ill. “He had a chest infection, was extremely lethargic and slept constantly. He stopped talking and would just babble like a baby,” Rachel recalls. After undergoing a battery of tests, James was diagnosed with encephalitis – a rare but serious type of brain inflammation.

The family agreed to undergo genetic tests to try to find out what was causing the inflammation. The results from the tests found that James had X-linked lymphoproliferative disease type 1 (XLP1).

Image of James unwell in hospital

X-linked lymphoproliferative disease (XLP) is a rare genetic condition that affects boys. Without treatment, around seven in every 10 boys with XLP will die by the age of ten.

Medicines benefit boys with XLP and bone marrow transplants can cure the condition, but this means finding a donor who is a good match. For transplants to work well, it’s best to carry them out early in the disease process and sadly, if transplants come too late or donors cannot be found, boys with XLP remain at risk of losing their lives.

James’ family were told to test all their children as XLP is genetic, so Rachel and Paul arranged for their younger son Samuel, who was 20 months old at the time, to be tested. They received the devastating news that Samuel also had XLP.

James was admitted to Great Ormond Street Hospital (GOSH) to have a bone marrow transplant in July 2018. Samuel joined him at GOSH in early December 2018. “It was an incredibly worrying time for us all,” Rachel recalls. “James was very unwell going into his operation and experienced difficult side effects.”

Lockyer family

Sadly, James sustained considerable brain damage from his encephalitis. He has severe learning disabilities, mobility issues and will require 24/7 support for the rest of his life. Not only is there a lot of uncertainty around XLP as it’s so rare, but little is known about the prognosis for boys like James who have been affected neurologically. “James is not able to communicate very well. His mobility comes and goes – he can walk but is unable to run. We live day to day – long term thinking went out the window a long time ago,” says Rachel.

“All that said, both my children are still here. Samuel is doing very well and will go on to lead a full life. James will need constant care for the rest of his, however he is a joy and he is here. James is a miracle as the odds were against him and he really shouldn’t have made it. It’s only due to the brilliance of medical research that he has,” says Rachel.

With funding from Action Medical Research, Dr Claire Booth at the UCL Great Ormond Street Institute of Child Health is aiming to develop a new treatment for XLP using cutting-edge gene editing technologies to correct the faulty gene in a child’s blood stem cells. Building on previous work in this area, this exciting new approach has the potential to cure the disease by repopulating their immune system with healthy cells – saving lives and preventing illness in boys born with XLP.

Image of James and Samuel at home

Having seen both of her sons go through bone marrow transplants, Rachel feels that a safer treatment would make a huge difference to boys with XLP: “If Samuel was to grow up and have a daughter, XLP could potentially be passed on. Understanding the difference this gene therapy would make for my son, and potentially his grandsons, in the future is incalculable.”

Reflecting on their experience as a family and the concept of an alternative to the treatment her boys have undergone, Rachel adds: “Anything that stops a child from having to go through a transplant is a no-brainer."