A three-year-old boy’s family has told how he needs a lifesaving bone marrow transplant, after being diagnosed with a rare genetic disorder.
Elijah John developed primary HLH, a life-threatening immune disorder caused by a faulty gene – leaving his parents fearing every infection could be deadly.
His family became concerned when a small rash on his cheek spread across his body.
The tot is now scheduled to have the transplant in February, but the risks to his health remain extremely high.
Dad Kyle, 38, says that without it, Elijah won’t survive, but there’s also a chance he won’t make it through the surgery.
“Without the transplant, he won’t live,” Kyle, from Pontypridd, Wales, told Need To Know.
“He has to have the transplant as patients with primary HLH won’t live that long.
“Every time he gets sick, it could mean a full HLH episode, which can kill.
“The transplant is not guaranteed to work and also carries a risk of him not making it through.
“They told us there is about a 10% to 15% chance he won’t survive.
“They don’t want to wait around and he was lucky to get a donor quick.
“We’re worried about it – but it’s needed.”
The lad first became unwell with a high temperature and a rash that appeared on his cheek in November.
Kyle, who works as a deputy manager, recalled: “As he got worse, he got an enlarged stomach, liver and spleen.
“The rash ended up all over his body.”
Specialists later confirmed Elijah had primary HLH, triggered by a rare genetic mutation called XIAP.
Genetic testing revealed customer assistant mum Chloe, 24, unknowingly carries the gene, which is passed through mothers and affects only boys.
Elijah immediately started intense treatment, including powerful medication and a dose of chemotherapy to suppress his immune system.
Kyle said: “Obviously when he was first diagnosed, we had no idea what that meant or how serious it was.
“We looked it up and spoke to specialists and we were gutted.
“Chloe was feeling bad – she was blaming herself.
“The earlier the transplant is done, the better, as any virus can trigger a HLH attack that can prove fatal.”
Following the transplant, Elijah will have no immune system and will spend between three and six months at Newcastle’s Royal Victoria Infirmary Children’s Hospital.
There, he will be cared for in specialist air-filtered rooms under strict infection control.
The family have started a fundraising page to help support them while Kyle and Chloe take time off work to isolate with Elijah.
Kyle added: “Eventually, if he’s successful, we’ll be put into a halfway house type of thing to enable visits.
“But there’s so many what-ifs and unknowns.
“It’s one hell of a worrying time for both of us but if it’s successful, it’s a 100% cure – and that would mean everything to us.
“It’s been hard seeing our son so poorly.
“Elijah is normally full of energy non stop.
“But when he’s sick in hospital hooked up to everything, it’s hard to see.
“He’s too young and just wants to go home and he doesn’t understand.
“Me and Chloe have decided to not have more kids as obviously this can happen again.”
To donate, go to: Donate to Elijah’s Journey With Primary HLH, organized by chloe evans
