Like many adults with mitochondrial disease, the road to diagnosis for Harry was long, hard and full of wrong turns. The 28-year-old from Essex spent years knowing that something was wrong with him, without knowing what.
For his mum, Mandy, the first signs that something wasn’t right came when Harry was very young. He was slower than other children to hit developmental milestones and struggled at school. Eventually he was diagnosed with dyspraxia, a neurological disorder that causes problems with coordination.
Harry’s condition continued to worsen, and his balance and co-ordination became a serious problem. He grew more accident prone, and although he was determined to manage on his own, Harry found himself back in the consulting room when two serious falls left him hospitalised with concussion.
That’s when he was diagnosed with Wolff-Parkinson-White syndrome (WPW), a heart condition that causes the heart to beat abnormally fast. As soon as he was old enough, he underwent a standard surgical procedure to correct it. That went without a hitch, and Harry went back to managing as best he could.
At this point, mitochondrial disease still hadn’t been mentioned, but as Harry’s symptoms kept changing, Mandy eventually took him back to his GP. He was referred to their local neurologist, and underwent a raft of tests, including MRI scans, EMG brain scans and hearing tests. This consultant was the first person to mention that he might have mitochondrial disease.
Dealing with the diagnosis
“We’d never heard of mitochondrial disease,” says Mandy. “Of course, I was really concerned. I started reading up on the internet and found The Lily Foundation. I phoned Liz, who was fantastic and very reassuring. She suggested we visit the research centre in Newcastle, where they have the top specialists in the field. Harry had his genetic blood test there in August 2016, and in November we got confirmation that yes, it was MERRF.”
“It was kind of a relief to be diagnosed and finally know what it was,” says Harry. “Of course, then you look at what it is you’ve got, and that’s not so good. But I’ve always had this mindset of just carry on as best you can. I think it was harder for Mum, actually.”
Because for Mandy, finding out that her son had MERRF syndrome, a mitochondrial disease that affects the muscles and nervous system, came with the added blow of learning that he’d inherited the causal gene from her.
“When we first got Harry’s diagnosis, it was very difficult to take because we’d never heard of the disease and it was totally alien to us,” says Mandy. “But then to find out that Harry’s problems were maternally inherited, and I have it, and the other female members of my family too. Although none of us have suffered as much as Harry, that was probably one of the hardest moments.”
Learning to cope
Today, living with a diagnosis of mitochondrial disease is a matter of taking one day at a time for Harry and focusing on the positives – something he’s been doing for as long as he can remember.
“It fluctuates, in terms of what it’s like to live with,” he says. “You have good and bad days. I don’t go out on my own any longer, so my independence is really impacted. But then I enjoy being with Mum anyway. Some friendships have been lost through not being able to do as much, but then I’ve made new friends even with this disease. The way I look at it is, get on with it, keep going and hopefully through all the good research that’s being done they’ll find a cure someday.”
“Harry never complains,” Mandy continues. “I was thinking about how we cope the other day and it’s because Harry copes so well.”
“You’ve got to keep positive and not let it beat you,” Harry chips in, smiling. “It’s taught me to appreciate the natural surroundings; how lucky I am to have people like Mum to help me do things I find difficult; to appreciate what I’ve got and keep going and stay strong.”
“Thankfully we get on very well and we enjoy going out together,” adds Mandy. “We enjoy our little day-to-day adventures. Harry being positive makes it easier for me. We’re forever hopeful that one day there might be treatments that could help Harry. Nobody really knows what’s around the corner and I think this has just made us more aware of that.”
Support from The Lily Foundation
Harry feels he’s benefitted from the connections he’s made through The Lily Foundation. “We’ve been to a lot of Lily events,” he says. “Meeting the Lily family has been great, and eye-opening in terms of the science behind all the research. I find that side of it really interesting. Even though the disease causes so much sadness, it’s heartening that so much progress is being made in research.”
Mandy was offered counselling and attended one or two sessions but says the most useful support has been from people she’s met through the charity. “Everyone at Lily and Newcastle has been fantastic,” she says. “We went from feeling isolated and not knowing who to talk to, to meeting lots of people who know and understand exactly what we’re going through. We’ve attended a Patient Information Day and several Lily Support Weekends, and I’ve even done a couple of 10k runs to help with fundraising!”
Harry’s even taken part in clinical trials, and he and his mum feel that even the slimmest of hopes is better than none. “You have to be realistic, of course, but at the end of the day you’ll try anything,” says Mandy.
Hope for a better future
Mandy still wishes that someone had been able to identify Harry’s disorder sooner, if only to avoid the years of uncertainty, consultations and tests. She’s convinced that with better information and awareness, other patients and their families could be spared the same ordeal.
“Our GP said that in 30 years of practising, Harry was the only patient he’d ever come across who had mitochondrial disease,” she says. “I think it’s a lot more prevalent than the figures show, but because it’s so poorly understood it doesn’t get spotted. Harry had dyspraxia, poor co-ordination and then the heart defect, but because everybody we saw was a specialist in their own area, nobody put two and two together. Thanks to The Lily Foundation people are becoming a lot more aware of mitochondrial disease now, but there’s still a lot of work to be done to get the message out.”
As Harry’s disease progresses, even everyday tasks are becoming more challenging. Yet he takes it all in his stride with a smile on his face and belief in his heart – belief that research will one day uncover treatments and an eventual cure for mitochondrial disease.
“The Lily Foundation are investing a lot of money in diagnosis and research,” he explains, “which is crucial for finding a cure. It’s so important to keep donations going into this vital research and support. Have belief in the medical advancements, and in the brilliant Lily Foundation.”
Harry’s right – belief is what keeps progress moving forward. It’s what drives researchers to keep searching, families to keep hoping and supporters like you to keep giving.
This Christmas, we’re celebrating the belief it takes to face each day with mitochondrial disease – and the belief that, together, we will find a cure.