'Our baby's red ears were mistaken for fever, it's been so much for a little human'

An infant has been diagnosed with a rare and life-threatening syndrome after her red ears and throat were initially mistaken for a fever. Billie Frankcombe, just 11 months old, was born a "healthy" baby, reaching all her milestones, on November 7, 2024.

However, parents Hannah, 33, and Ben, 39, became worried when Billie fell ill in the middle of last month. A trip to the GP revealed she had red ears and a red throat, but it was dismissed as a viral infection that would resolve itself in a few days.

As Billie's condition deteriorated over the following days, Hannah decided to take her to A&E on September 17 when she became "floppy" and developed a temperature of 40.1C. Over the next two days, Billie became extremely unwell, swelling up and turning yellow, leaving doctors initially baffled.

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By September 19, after conducting multiple tests and ruling out numerous possibilities, a decision was made to have a specialist haematologist examine her and perform a bone marrow sample. Just hours later, Hannah and Ben were given the heartbreaking news that, while she didn't have cancer, she did have hemophagocytic lymphohistiocytosis (HLH) - a rare hyperinflammatory syndrome.

Billie's condition affects her immune system, causing it to attack itself rather than protect her when she has an infection. She now faces over six months of chemotherapy, three surgeries and a bone marrow transplant to correct her immune system, having already undergone four rounds of chemo.

Hannah, a police officer from Cardiff, said: "It's been so much for a little human. It's been a whirlwind.

"You go from normal family life to it being torn apart. My husband and I are living in the hospital and we can only see our other children on the weekend. It was terrifying because it happened so quickly as well - they didn't know what was going on with her at first."

When Billie was first taken to A&E, doctors suspected she might have a UTI.

Hannah explained: "They did all her obs and her heart rate was high. She was appearing with some mottling on her skin and they took her through to a bed.

"They did a urine sample, which came back positive, so they thought it was a UTI, but her heart rate was still high, so they admitted her. She suddenly began getting really really poorly.

"Within an hour, things started to change - she had gone from being sat up to being laid down and her body had started swelling and going very yellow."

After receiving the diagnosis, Hannah and Ben learned that Billie's rare illness was due to a gene.

Hannah said: "It's come back that both my husband and I are both carriers of this gene, which the doctor said is incredibly rare. Usually, it's just one parent.

"Essentially it affects her immune system, so when she has an infection her system goes into overdrive and attacks her system rather than protecting her. We were really lucky because the haematologist really is the best in his field."

In the aftermath of her diagnosis, Billie's condition deteriorated, but Hannah said that she had now "turned a corner".

She added: "She was hooked up to everything you could think of - straight onto chemotherapy. Billie was still getting worse and then on September 20 things got even worse.

"Within minutes lots of doctors came in as her heart rate had gone up to 208 and she wasn't breathing. That night I thought I'd lost her.

"We've really turned a corner now. She's now started the US-style treatment this week, which is another form of chemo that gives her fewer side effects.

"Her bloods are starting to come up on their own and she's doing better. The transplant will replace her bone marrow because hers is missing something that causes her immune system to work ineffectively."

Billie will undergo her bone marrow transplant at a specialist hospital in Newcastle and her parents have initiated a fundraiser to assist with costs while they are unable to work.

Hannah said: "It's to take away some of the financial burden we're going to experience, but it's also for when we spend three months in Newcastle for her treatment. We're going to have to look at renting somewhere while we are up there.

"We've also got mortgages, bills, debt and it's going to go to all of that and anything left over will be going to a charity called Latch. They do so much, and they are the most incredible charity."

Those wishing to support Billie and her family can do so via GoFundMe.