A five-year-old boy has had to live in isolation most of his life after being diagnosed with an immune condition that doctors say is "rarer than winning the lottery". Jacob, from Bishop’s Stortford in Hertfordshire, last year received a second bone marrow transplant in a bid to combat his haemophagocytic lymphohistiocytosis (HLH) and fix complications from his first transplant.
Mother Emily Chaney, 36, said everything had gone well with her pregnancy and it was not until her son was 15 months old that she and father James, 37, discovered something was not right. She said: “It wasn’t until Jacob was just over a year old that he developed a temperature that I just couldn’t bring down.
“After a week in a local hospital, Jacob was transferred to Great Ormond Street Hospital, where we found out that he had a very rare immune disorder. I didn’t know what to expect when we went to the hospital, but I certainly wasn’t prepared for how devastating the diagnosis would be.”
Jacob was diagnosed with HLH, a rare immune disorder in which the body reacts inappropriately to a "trigger", usually an infection. Specialised white blood cells become overactivated, causing severe inflammation and damage to tissues such as the liver, spleen and bone marrow.
The condition can be difficult to diagnose because many of the symptoms can mimic severe infections or other conditions. “The doctor told us it was rarer to be diagnosed with HLH than it is to win the lottery", Ms Chaney said.
“The only cure was a bone marrow transplant, otherwise Jacob would be very vulnerable to infections and that could be potentially fatal for him. There’s not much known about the disorder, especially in this country, which is quite daunting to be told when you’re faced with your child having this diagnosis.”
Unfortunately, the first transplant in April 2019 was unsuccessful and Jacob's bone marrow continued to decrease. He began to rely on blood transfusions – sometimes weekly or monthly, depending on his health.
He received a second transplant last December in the hope of fixing complications from the first. Ms Chaney said: “He was in hospital over Christmas, but came home at the end of January.
“It’s early days yet. The first 100 days after the transplant are crucial for determining whether the procedure has been a success.”
But Ms Chaney says the debilitating health problems have not kept her five-year-old’s spirits down, especially with the support of children's charity Spread a Smile. “He’s a really happy kid, always smiling and always happy to play all day", she said.
“Because he is so vulnerable to infection though, he’s been in isolation his whole life. He’s never been to school, so I’m hopeful that this time the transplant will work and he’ll able to enjoy some normality in his childhood.”
She added: “That’s partly how I got involved with the Spread a Smile charity, because they brighten up hospital rooms for kids. While he’s been in isolation for his recent procedure, he’s taken part in magic shows over video calls where he’s done things like make balloon animals.”
Spread a Smile supports critically and terminally ill children and their families by providing entertainment, treats and activities to them and their families while in hospital. It currently operates just in London but has plans to expand to 56 hospitals across the UK.
Research shows entertainment, laughter and smiling has a direct impact on improving the quality of life and building the self-esteem and confidence of children spending a lot of time in hospital. According to Ms Chaney, that is exactly the effect Spread a Smile had on Jacob during a recent visit to London's Great Ormond Street Hospital.
The charity treated his room to a makeover while he recovered from the transplant by painting his favourite TV characters, Sooty and Sweep, in a train on his window. “It was a bit of fun for him and the painted window trains make hospitals seem less scary for the children", Ms Chaney said.
"The charity came to the hospital after he was first diagnosed. He was really unwell that day and they were playing music and he started dancing and clapping to it. It really made an impact.”
Ms Chaney added: “He loved his Sooty and Sweep train. I’m really hopeful that Jacob’s latest transplant will see an end to the spells in hospital but, until then, I’m really grateful to the people who help to make them special for our little ones.”
For more stories from where you live, visit InYourArea.
