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 seriously 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.
But the cause of the inflammation remained a mystery until genetic tests finally revealed the devastating news that James had X-linked lymphoproliferative disease type 1 (XLP1).
As XLP is genetic, James’ family were told to test all their children, so Rachel and Paul arranged for their younger son Samuel, who was 20 months old at the time, to be tested. They received the heartbreaking news that Samuel also had XLP.
It’s difficult to explain or put into words just how huge a rollercoaster dealing with XLP has been for everyone.
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.
The only available treatment is a bone marrow transplant, but this means finding a donor who is a good match at the right time. Sadly, if transplants come too late or donors cannot be found, boys with XLP remain at risk of losing their lives.
To give the boys the best chance of surviving, they both underwent bone marrow transplants in 2018 at Great Ormond Street Hospital (GOSH). But it was an incredibly worrying time as the procedure came with serious risks and James was already very unwell.
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.
With funding from Action Medical Research, Professor 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 without the need for a bone marrow donor.
Building on previous work in this area, this exciting new approach has the potential to cure XLP by repopulating their immune system with healthy cells – saving lives and preventing illness in boys born with the disease.
Reflecting on their experience as a family and the concept of an alternative to the treatment her boys have undergone, Rachel says: "Understanding the difference this gene therapy would make for families in the future is incalculable." She adds that “Anything that stops a child from having to go through a transplant is a no-brainer."
