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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 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.

Family image of Rachel and Paul with with sons James and Samuel
Rachel and Paul with James (right) and Samuel


It’s difficult to explain or put into words just how huge a rollercoaster dealing with XLP has been for everyone.