My little girl is human time bomb – she’s only person in the world with her illness’

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Days after Ruby Smith was born, her mum Claire Parsons noticed something unusual about her behaviour.

Her four-day-old tot wouldn’t feed and was holding her breath – something her mum described as a bit like apnoea.

“I thought maybe it was a little bit of wind or reflux. It was only momentarily each time,” Claire, from Bedford, told The Mirror.

But the next day, she knew it was more serious.

“[Ruby] kept doing it and she was turning slightly blue. I took her to A&E with what I thought was tummy problems,” the mum-of-five explained.

When she arrived at hospital with Ruby, a doctor witnessed one of the episodes while assessing her, and sent her straight to the NICU ward.

During her first night in hospital, Ruby had a serious seizure. Unsure of what caused it, doctors prescribed her antibiotics and conducted an MRI scan – but the results showed everything appeared normal and Ruby was discharged.

According to Claire, who now blogs about her daughter, that’s when everything “snowballed.”

She said: “From six weeks old, Ruby started having these episodes every week. For the next year we were in and out of hospital but they didn’t know what these seizures were.

“We didn’t know if we could manage her at home because of rescue medication for her seizures. Sometimes, we’d be in hospital three or four times a week. For the first 18 months of her life, we spent more time in A&E than we did at home.”

While Claire and Ruby’s dad were consumed with worry about what was wrong with Ruby, she was also concerned about the toll it was taking on her four older children.

“They didn’t really understand what was going on. I felt bad having paramedics in the house all the time – it’s like your feet haven’t touched the ground,” she recalled.

While doctors were baffled about what was causing Ruby’s episodes, Claire had a hunch of her own, that put her daughter’s seizures down to a traumatic birth in which she might have been injured or starved of oxygen.

But when Ruby was eight months old, doctors called her for genetic testing. Nearly five months later, they finally had an answer.

Ruby was diagnosed with alternating hemiplegia of childhood (AHC), a rare and complex neurological disorder with several serious symptoms – including seizures.

The condition can cause temporary paralysis (hemiplegia), delays in development, issues with balance and mobility, and cognitive impairment.

The condition is caused by a mutation on the ATP1A3 gene – but there are lots of different types of mutations, meaning people with AHC can all experience different symptoms. This makes it difficult to predict how the condition will manifest in each child.

In Ruby’s case, Claire says she’s the only known person with the specific gene mutation, meaning that for now, her condition is completely unique.

The dedicated mum recalled having mixed emotions when Ruby was diagnosed.

“We finally knew what we were dealing with, and I did feel relieved we knew what it was.

“Then again, there’s no one else to compare her to. She’s one in a million,” Claire said.

Now six and a half, Ruby’s AHC affects almost every aspect of her life.

Claire described: “She has absence seizures throughout the day. She’ll just be playing and will get sudden paralysis in her arm.

“Fortunately, the hemiplegia episodes are short lived.”

She added Ruby has ataxia, a movement disorder that means her walking is “wobbly” and lives with epilepsy alongside AHC. She is also on the autistic spectrum and is largely non-verbal.

“The longest Ruby has ever been seizure free is seven weeks and six days, and that was only fairly recently,” Claire said.

Ruby’s condition also means she’s at greater risk of sudden unexpected death in epilepsy (SUDEP).

“Every seizure causes damage,” Claire said. “One bad episode and she can regress and lose everything.”

Ruby’s condition means Claire “never switches off” and is with her youngest daughter all the time, apart from a few hours a week when she’s at school.

She described: “Ruby and I share a bedroom. She has a seizure alarm on her bed so I can be alert to seizures 24/7. I can’t remember the last time I sat in my living room in the evening and watched telly after I’ve put the kids to bed.”

She referred to a documentary about the condition, called Human Time Bombs.

“It’s an appropriate title because you just don’t know what will happen,” Claire said. She added one of the “cruellest things” about AHC is that it’s often overstimulation of some kind that will bring on a seizure.

“It’s heartbreaking. At the end of lockdown I thought the kids had been through a lot so I took them to a chalet on the coast for a few days. But it was my worst nightmare.

“We’d had a long journey and were in a new place with a new routine. [Ruby] had a seizure that night, so we came home the next day,” she recalled.

“You don’t know what will be the trigger. It could be hot or cold temperatures, some foods, being in the water, or playing with her brothers. I couldn’t ever take her swimming or to a trampoline park, even though she would love all those things.”

Claire has to be so careful with her daughter that she even has to regulate the temperature in her bath with the shower head – making sure it’s never too hot or too cold.

However, Claire noted her daughter has still managed to reach some incredible milestones.

“She can say ‘mama’ and ‘dada.’ Just after her fourth birthday, she walked for the first time. That’s something I never thought I’d see her do, which is amazing,” the mum said.

Although Ruby’s condition has changed family life forever, Claire constantly finds herself explaining AHC to people who have no idea what it is.

“Almost everyone I speak to has never heard of it,” she said.

“But it can still kill my child. Lots of children and young adults die of AHC.”

She believes that, because AHC isn’t well understood, it’s underfunded and under-researched – something she’s noticed when she’s tried to raise money for Ruby in the past.

“People are more likely to donate to causes when they’ve heard of the condition rather than something rare,” she argued.

Claire is currently fundraising £20,000 for Ruby to have pioneering gene therapy which could make a huge difference to her quality of life and even reverse her symptoms.

But she notes it’s largely through the hard work and campaigning of parents of kids with AHC that the therapy was developed in the first place.

“When you only have 1000 patients in the world it’s difficult. If there were 2 million patients it might be different, but AHC is so rare that we have to do this ourselves,” she said.

“It’s really important to highlight these rare diseases that don’t get as much publicity. For our children, this is a life-limiting disorder and anything can happen at any time.

“For Ruby’s sake and for us as a community it’s important that people know what [AHC] is. Just because you haven’t heard of it doesn’t mean it’s not serious.”

She added her intention isn’t to take away from the seriousness of any other illnesses affecting children’s lives, but rather to draw attention to a disorder that many people don’t even know exists.

She asked: “Why shouldn’t our children have a chance?”