Hi, I’m Paula. I live in Northwich, Cheshire and I was diagnosed with mitochondrial disease in 2021 in my early 40s after experiencing vision loss....
Hi, we’re Catherine and Charles, parents to Charles Jr or Charlie, as we call him.
Charlie was an incredibly wanted child, after some difficult pregnancy journeys, he is our miracle baby. He was born premature, at 36 weeks, so was smaller but that was to be expected. Up to 18 months he was hitting all his milestones and doing well. A health visitor would come out to see him and noticed he was struggling a little with his fine motor skills and that he had a slight tremor.
We agreed it would be best to take him to hospital for testing, and the paediatrician there noticed that he was actually shaking all over, but it was so subtle we hadn’t seen it before.
Unfortunately, it was something, and they determined the tremors were neurological.
Genetic testing was done, and it took two years for it to be discovered that Charlie had the TARS2 genetic mutation, which he had received from both of us. Fewer than 50 confirmed cases of this gene mutation have been documented globally, making Charlie’s variant of mitochondrial disease extremely rare.
At the time of writing, his confirmed diagnosis came only a few weeks ago, and Charlie turns four soon. We were excited to find out about a Mito Community Day organised by My Mito Mission coming up, right in our hometown of Glasgow. We attended and were absolutely delighted to meet people who truly understood what we were going through. It’s been fascinating to learn about mito and how it affects all ages, from birth to adulthood.
Charlie struggles with his mobility and speech. He uses a walking frame to get around and is building his strength gradually. He’s in long-term physio, neurology and speech therapy to help with his various symptoms.
He can get frustrated at not being able to walk long distances and run about, because he’s a crazy kid at heart who just wants to create havoc like other children! He doesn’t know any different though and is a very happy boy.
… and balance activity with rest days for him. We take everything day by day.
We have a really strong team of medical professionals helping Charlie. His nursery has been absolutely amazing too and they’re excited to support Charlie’s Mission!
Charlie is a very popular at nursery and will say hi to anybody! He is definitely a ladies’ man and has all the nursery girls, his aunties and his grannies charmed. You can’t tell him no as he’s very determined, and already up on his feet determined to walk post diagnosis. Charlie is obsessed with cars and football. He plays frame football on Sundays with other boys and girls, and he loves watching football with dad. We have a dog called Mimi who’s a Romanian rescue, and they’re the best of friends, though he does think she’s a horse! Charlie mostly loves being outdoors, so they have a lot of fun playing in the garden.
raising awareness for a couse that affects us so deeply. We really feel that we’ve found our people with My Mito Mission.
but even though his good days look like he’s getting better, so many people don’t know about or understand mito, that this is a long journey ahead for Charlie and others with mitochondrial disease.
We are determined to raise better awareness for Charlie and others in the mito community.
Any funds raised by Charlie’s mission goes to My Mito Mission’s
central funds to be granted towards research and support projects
to benefit everyone affected by mito.
Spreading the word, following, sharing, as well as donating and raising funds are all really helpful and valued. From running a race to holding a bake sale, hosting a collecting can to giving out Charlie’s Mito Mission leaflets – there are so many ways in which you can get involved.
If you’d simply like to donate to Charlie’s mission, choose a way that suits you below.
Regular donations are the most powerful way to support our vital work, allowing us as a small, high-energy charity to plan and build from a strong foundation.
We need a 1000 strong team of amazing people to donate any amount from just £2 a month. 1000 is a lot, but – one by one – we know that we can reach it. Find out more here.
For any other amount or frequency (eg weekly, quarterly, annual), simply contact us
We’d love your support with our fundraising… and we can provide supporting materials. Just ask!
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contact@mymitomission.uk | 0300 102 1112
My Mito Mission is a Charity Registered in England & Wales No. 1212268 at c/o Project Colt, Bridgefield Mills, Elland HX5 0SQ