Frankie Sheridan-Hill, 10, was diagnosed with a rare genetic disorder affecting around 200 people worldwide
The mother of a boy suffering from a rare genetic condition, believed to affect just 200 people across the globe, has revealed that doctors told her “nothing can be done” and he is “unlikely to survive past his teens”. Amy Sheridan-Hill, 46, described being “shocked” when her son Frankie was diagnosed with H-ABC, a rare genetic disorder that affects specific regions of the brain, back in 2021 at just five years old.
Frankie, now 10, was born in 2015 following what Amy described as a straightforward pregnancy and planned C-section, with “no issues from birth”. As Frankie was her firstborn, Amy, a former teacher based in Ware, Hertfordshire, admitted she was “quite unaware of the proper development stages”, so when her son struggled to sit up like other children around him, she initially considered it “nothing to worry about”.
However, by the age of two, Frankie was still not walking independently — a milestone most toddlers reach by 18 months — prompting Amy to consult a doctor, who referred him to a physiotherapist. It was at this point that Amy was told her son might have hypermobility, a condition characterised by extremely flexible joints.
But when Frankie remained unable to walk by the age of four, a physiotherapist spotted “a certain way his foot went that made her think of cerebral palsy”, leading to a referral to a neurologist. Amy revealed that Frankie underwent an MRI followed by genetic testing before receiving his diagnosis of H-ABC – an exceptionally rare form of leukodystrophy, which is a collection of genetic conditions affecting the brain’s white matter – at the age of five.
The news came as a “massive shock” and turned their world “upside down completely”. According to H-ABC Foundation UK, as of 2019, fewer than 200 documented cases of H-ABC have been identified, the majority of which are children, but that number is on the rise as patients have access to better clinical diagnoses.
“When you go to a doctor, you expect to be told what can be done,” Amy said. “So I think to be told ‘nothing can be done’ is quite a shock.
“You’re told they’re going to die essentially. I think there’s still some PTSD from the diagnosis and I think a lot of parents say that it’s quite big to be given this information and sent on your way.
“When you Google leukodystrophy, it just gives you the worst-case scenario. With some types of leukodystrophy, kids die within two years, so it is not a word you want to Google if you’ve just been given that diagnosis.”
By this point, Amy noted that Frankie was lagging behind his peers developmentally, particularly with his ability to walk, but also with his speech and reading. In the wake of Frankie’s diagnosis, Amy described how she was “Googling everything” and stumbled upon a Facebook group for H-ABC that had “less than 100 worldwide members”, which she promptly joined.
Shortly afterwards, Michelle Teng, a fellow mum from the Oxford-based group, made contact and told Amy about another Cotswolds-based mum named Ali Candy-Waters, leading to the three of them speaking on a Zoom call and ultimately deciding to establish a charity called H-ABC Foundation UK to raise awareness for the condition.
“I think having mums who are going through what you’re going through is just really helpful,” Amy said. “We don’t see each other that often, but we text constantly.
“I was talking to Ali this morning about the mum guilt of when you don’t put your child in his stander every day – because he should and it’s good for him – but actually getting him in the stander is really difficult. We’ve all got brilliant friends and families, but people that are going through it, they know (what it’s like) when you’re having a meltdown, so you can phone one of them.”
Through fundraising efforts including marathons and school bake sales, Amy explained that the charity has helped finance research into the disease whilst also supporting other affected families with the purchase of wheelchairs or iPads, which can assist non-verbal children in communicating. Alongside this, Michelle is the co-founder of an Oxford-based company called SynaptixBio, which has recently selected its candidate drug to progress into clinical trials to treat H-ABC.
Amy explained that these trials could potentially begin within the next year or two and, whilst not a complete cure for Frankie, could potentially “hold the disease to stop children losing any more skills”.
At present, no known cure exists for the condition, though treatments such as physiotherapy and certain medications may help ease symptoms and enhance quality of life. In the meantime, Amy said her family’s priority is to keep Frankie “as strong as possible” so that there is a “better starting point” should he be selected for the trial.
To achieve this, Amy revealed that Frankie regularly undergoes physio and occupational therapy, as well as Botox injections to loosen the muscles in his legs. He relies on leg splints, Spandex shorts, a stander and a walker, and will require X-rays and surgical procedures in the future as his spine begins to curve.
Should Frankie not qualify for the trial, Amy warned it could be several more years before he gains access to what might prove to be a life-changing medication. For now, Amy said Frankie loves spending time with his “protective” and “kind” younger brother Rory, eight, and he “loves” attending a mainstream school, where she praised his “amazing teachers” and the entire class who “just really look after him”.
“It’s really sweet to see,” Amy said. “When they do assemblies, they make Frankie the centre of things and they always make sure he’s really involved in everything. They specialise the curriculum for him because he is delayed, so he’ll do his own work, but he just loves being part of the class.”
She went on to say: “Frankie is a very happy child. He can read, he loves to play PlayStation and he can use his iPad. If we could keep the disease static and he doesn’t decline, he’d have a great life.
“If we could get some form of treatment in the next two or three years, I think Frankie’s path would be quite different. We hope that other families don’t go through what we’ve been through.”
Ultimately, Amy explained that she wants to raise awareness of the condition because “there’s probably more cases out there”. She stressed that people need to know that charities like H-ABC Foundation UK “that have been set up to support families and there are doctors and scientists working on treatments”.
Amy said: “Now we can tell them where we are and that gives them hope, whereas when Frankie was diagnosed, there wasn’t that hope. So we’ve had to create that hope and now we can share it with other families.”
To find out more about H-ABC Foundation UK, visit its website.
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