At 15 months old, Rupert Smith should be learning to walk, talk and play with his siblings.
But instead, the toddler risks death if he even shares a laugh or smile with those around him.
Rupert, from Broughton in Wales, is one of only approximately 50 children in Britain living with Alternating Hemiplegia of Childhood (AHC) – an ultra-rare neurological condition often described by specialists as a ‘time bomb’ due to its unpredictable and life-threatening nature.
The condition – for which there is no cure or treatments for in Britain – causes sufferers to have ‘attacks’ triggered by day-to-day activities, meaning Rupert’s parents, Dave and Siobhan Smith, must closely monitor their son at all times to mitigate the risk of injuries – or even death.
What began as ‘abnormal’ eye movements quickly progressed into seizure-like episodes and choking for Rupert, who has siblings George, six, and Henry. But it was not until he had a choking fit which stopped his breathing that his parents pushed for answers and he was given the devastating diagnosis.
Diagnosed at just seven months old, the toddler’s young life has been governed by invasive medical procedures, including lumbar punctures, MRIs and CT scans.
Rupert’s best hope rests on experimental therapies and clinical trials only offered in the United States which, unfortunately, come at a mammoth cost.
Fifteen-month-old Rupert Smith is one of only approximately 50 children in Britain living with Alternating Hemiplegia of Childhood (AHC)
Rupert’s every movement must be closely monitored to mitigate the risk of fatalities as for sufferers of AHC, there is no cure nor approved treatments for the condition
Rupert pictured with parents Dave and Siobhan, and siblings George and Henry
In the months since his diagnosis in January, his family has set up a fundraiser aimed at raising the £1.5million needed to send Rupert across the Atlantic for the potentially life-saving treatment.
Mr and Mrs Smith spoke to the Mail about the fragility and uncertainty of their son’s condition – but how they will do whatever it takes to ensure his life is as normal as possible.
‘When Rupert was a few weeks old, we noticed some abnormal eye movements, his eyes would roll around, flicker and deviate outwards,’ Mrs Smith, 36, said. ‘We’d taken him to Wrexham Maelor Hospital and they said they couldn’t find a reason for it and it could just be his age.
‘Shortly afterwards, he started having really rigid episodes where his whole body would just spasm. He would become very rigid and have abnormal posturing, which looked like seizures.’
The family, concerned with his alarming symptoms, brought Rupert back to hospital where tests kept returning as normal – baffling medics.
But at the end of 2025, the boy’s situation was life or death – leaving Mr and Mrs Smith desperate for answers.
Mrs Smith, a former pharmacy technician turned full-time carer, explained: ‘In November, he’d gone into Wrexham Maelor Hospital again with a choking episode and just as we were about to leave hospital, Rupert turned blue and stopped breathing. He had to be resuscitated by the doctors and a crash team.
‘We spent a couple of weeks in hospital, and that is where he had a whole genome sequencing. On January the 5th this year, we got his diagnosis of AHC.’
Following a choking episode in which he had to be resuscitated, Rupert was put forth for whole genome sequencing. He was given the formal AHC diagnosis in January this year
Rupert’s AHC can be triggered by ‘day-to-day’ actions like laughing or being tired
Alternating Hemiplegia of Childhood (AHC) is an extremely rare neurodevelopmental condition caused by a gene mutation and characterised by recurrent ‘attacks’ and episodes of weakness or paralysis.
AHC episodes are often triggered by various stressors and can affect either one side of the body or both. While the condition does not typically limit a child’s life expectancy, affected individuals are more at risk of serious or fatal complications caused by the episodes.
At present, there is no cure nor treatment for AHC on the NHS. Care is typically focused on managing symptoms and reducing the severity of AHC attacks.
For Rupert, Mrs Smith explained, AHC attacks can be triggered by simple ‘day-to-day’ things, making management of his condition particularly difficult and distressing to manage.
‘For example, an episode can come on if Rupert is tired, hungry, too hot or too cold, or even if he is exposed to water,’ Mrs Smith said. ‘His top trigger is actually excitement, and that is the worst part of it for us because we can’t allow him to become too happy.
‘It’s terrifying because it happens so, so quickly. One minute he’s playing and the next minute he could stop breathing or he’s having a life-threatening seizure or he’s completely paralysed and can’t move anything but his eyes.
‘For us, it’s just terrifying, we’re constantly on edge, you can’t take your eyes off him. It’s just the fear that one day we could lose him. We carry oxygen with us everywhere we go and he’s got rescue medication.’
And in addition to the AHC triggers, Mr Smith added, Rupert also faces various physical difficulties, meaning he has multiple medical appointments per week.
AHC is an extremely rare neurodevelopmental condition caused by a gene mutation (Rupert pictured with his siblings Henry and George)
Rupert can’t crawl or walk, and also has very low muscle tone. He is pictured here having pysiotherapy
He said: ‘He has his daily struggles, he’s developmentally delayed globally, so he’s far behind where he needs to be. He also has very low muscle tone. So, he can’t crawl or walk. He’s just learning to sit up by himself and things like that. But he has lots of physiotherapy to try and help with that.
‘In day-to-day life, he struggles with what he should be doing. But it is the triggers – the medical emergencies – which can take him from us.’
The family are now working to raise the £1.5million needed to send Rupert to America for treatment which could potentially suppress and control his AHC – giving the tot the best chance of a normal future.
The money – of which they have raised just over £380,000 so far – also factors the cost of any potential cure for AHC that could be developed in the future.
Mrs Smith explained why Rupert’s journey to America is so important. She said: ‘In this country there are no treatments, only symptom management. He’s on anti-aphylactics, and has medication to try and prevent the paralysis. But there is currently no cure.
‘There is a treatment and a cure being developed by Boston Children’s Hospital and Harvard University in the USA, which is what we’re fundraising for. It has had some really positive results, but will cost a fortune.
‘They have been awarded a huge grant to push forward a cure for AHC – because in theory, once AHC can be cured, any condition that’s caused by a single gene being affected can be treated.
Rupert’s family are now working to raise the £1.5million needed to send him to America for treatment which could potentially suppress and control his AHC
The treatment, she added, should be ready next year.
Mrs Smith explained: ‘The treatment kills the bad genes. It is essentially a protein that attaches to the bad gene and stops it from working, so the good gene can carry on. This will then allow Rupert to develop the way he should, and minimise or stop the symptoms of AHC altogether.’
Mr and Mrs Smith added they are so ‘grateful’ for the immense outpouring of support Rupert’s cause has generated so far.
‘The support has been overwhelming,’ said Mr Smith. ‘The way people come together has been phenomenal. It makes us feel as though we are not alone.
‘We have never met another family who has a child with this condition, only spoken to them. So knowing we have got all these people fighting for Rupert with us – I can’t put into words how much it means to us and our family.’
Wrexham Maelor Hospital is overseen by Betsi Cadwaladr University Health Board. Interim chief operating officer Matt Powels said the Trust is ‘absolutely committed’ to supporting families like the Smiths.
He said: ‘Firstly, I want to pay tribute to Rupert’s parents for raising awareness of his extremely rare condition. We all look forward to a day when a cure is found for AHC.
‘More generally, our children’s services are absolutely committed to supporting parents and young people who find themselves having to deal with rare and life-limiting conditions, often in partnership with our colleagues at Alder Hey Children’s Hospital.
‘It is vitally important parents and children with life-limiting illnesses feel supported at every stage of their child’s healthcare journey. That is the ethos which drives our colleagues within children’s services.’
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