Gareth Edwards had tackled Mount Kilimanjaro and had his sights set on Everest when a rare form of mitochondrial disease left him struggling to climb the stairs. Here he talks about what it's like to be diagnosed in your 30s, and why he chose to donate a portion of his company's profits to The Lily Foundation.
Standing on the summit of Mount Kilimanjaro, Gareth Edwards felt literally on top of the world. At the age of 30 he was in peak physical condition, his body honed by hours of running, cycling and lifting weights in the gym. And now he had just achieved one of his life goals, scaling the 5,895m peak to raise money for charity and train for the next challenge on his bucket list – a trek to Everest base camp.
Tragically, that dream would never be realised. Gareth had no inkling at the time, but as he was snapping photos on the summit of Kilimanjaro, a rare form of mitochondrial disease was manifesting in his body. Doctors now believe that the physical exertion of reaching the summit may have triggered the condition, as two months after his trip Gareth began suffering from muscle weakness and fatigue.
"At first I just put it down to the time of year," says Gareth, who lives in Blaenavon, Wales with his wife Amy and four-year-old daughter Mali. "It was December so I thought maybe I was suffering from flu or seasonal affective disorder. But I went to my GP to get it checked, and he had me do some strength tests which revealed a weakness in my left leg."
Gareth was referred to a neurologist at his local hospital, and then to another in Cardiff. Months of uncertainty passed while he awaited the results of various blood test and scans, and still no one was able to provide any clear answers.
"The neurologists were scratching their heads trying to figure out the cause of my illness," says the 37-year-old. "It was horrible not knowing. I think it's human nature, you just assume the worst."
Eventually Gareth was referred to a mitochondrial specialist at the Oxford Genomics Centre, where a muscle biopsy confirmed he had mitochondrial disease. Two years after powering up Kilimanjaro, Gareth now found himself with a far more daunting mountain to climb.
"At first I just felt this huge feeling of relief, to finally know what my illness was," says Gareth. "But then the fear kicked in. I didn't know what was going to happen, whether I'd end up in a wheelchair or on crutches, or if I'd be able to have children. All this was going round my head."
Living with a progressive illness makes you aware that anything you want to do, you need to do it now.
Gareth was diagnosed with mitochondrial myopathy caused by cytochrome C oxidase (COX) deficiency, a rare form of mitochondrial disease which can affect the muscles, brain, heart and liver. Usually the condition is inherited, but in Gareth's case it appears that the DNA mutation that causes the condition was 'sporadic' and not passed on via the parental gene. While Gareth is thankful that no one else in his family has been affected, it has left him in want of an explanation for his condition.
"I think for me the worst thing is that there's no reason for it," he says. "We've done the genetics test and it hasn't been passed down from my parents, and my brother and sister don't suffer from it. So you think, why me? But I'm just so thankful that I haven't passed it on to my daughter, Mali."
Mitochondrial diseases are usually diagnosed in infancy, and when they are the prognosis is often bleak. In cases like Gareth's when diagnosis happens in adulthood the outlook can be more positive, although it's impossible to predict how the condition will develop over time.
"That’s the million dollar question," says Gareth. "Basically we don’t know what will happen. At the moment my doctors think the condition seems to have settled down, but they can't confirm whether it's going to develop or not. It might just plateau off, but I've always got to have in the back of my mind that it is a progressive condition so it could get worse. We're keeping a close eye on it."
For now at least, Gareth is able to consider himself relatively fortunate. Unlike many people affected by mitochondrial disease he is still able to lead an independent and active life, although he has no way of knowing how long that will continue. In the meantime, meeting other mitochondrial patients has brought home to him that things could be much, much worse.
"I was at a patient group meeting in Oxford, and two or three people came up to me and asked who I was with," says Gareth. "They thought I was there to care for someone else. When I explained that I was the person who was affected, people were surprised because I'm not in a wheelchair, I'm not being fed my food. Driving home I thought, stop feeling sorry for yourself and be grateful that you and your family aren’t carrying that burden."
"Emotionally, if you give into it you'll slip into a really negative mindset, where you think you can't do anything. So you have to take one day at a time, and try to enjoy what you've got.
Gareth is the first to admit, though, that living with his condition isn't always easy, either physically or mentally. On good days he can manage a two-hour walk with friends, while on bad days it can take all his strength just to get out of bed or climb the stairs.
"There are times when you wish you could just take a tablet and make the pain go away, this annoying dull ache that stops you doing things," he says. "Emotionally, if you give into it you'll slip into a really negative mindset, where you think you can't do anything. So you have to take one day at a time, and try to enjoy what you've got."
Gareth has always had an adventurous spirit, and the most crushing blow came when his doctors told him his life-long goals of trekking to Everest and the North Pole were no longer an option.
"That was really upsetting for me," says Gareth. "These are things I've always wanted to do, both for myself and to raise money for charity. But my doctors ruled it out because the medical support wouldn't be there if I needed it. There are still things I can do, like the three-peaks challenge here in Wales, and other UK peaks. It's just unfortunate that the big ones can now only be a distant dream."
The uncertainty about his future has made Gareth even more determined to make the most of life today. No longer able to take his health for granted, he has brought forward some of his long-term plans, including starting his own company.
"Living with a progressive illness makes you aware that anything you want to do, you need to do it now. When I'm 40 or 50 my body could be aging a lot faster than other people's, so I can't afford to put things off. The biggest thing for me is that I want to see my daughter grow up, and be able to enjoy an active life with her."
Gareth's daughter is the inspiration for his company, Malibabi. Launched in 2017, the company's first product is an innovative 'baby-on-board' safety sign for cars, which glows in the dark to make it more visible at night. Gareth has generously agreed to donate a portion of the profits from sales to The Lily Foundation.
"The Lily Foundation funds medical research into mitochondrial disease, including some of the science and technology that enabled my diagnosis," explains Gareth. "It's still a relatively new disease in terms of what's known about it, and new breakthroughs are happening all the time. We need to keep funding research and raising awareness, because by doing so there's always cause for hope."