‘Hello. My name is Jake. I am 15 years old and live in Suffolk with my mummy and daddy. And I’m Steph, Jake’s mum. I’m 39 and devoted to my lovely son Jake and husband Paul..
Jake was born in September 2009 – happy, healthy and very gorgeous. By the summer he’d found his feet but we noticed he stood in a peculiar way, so took him to the doctor. A physiotherapist subsequently diagnosed him with hypermobility.
At 15 months Jake got chicken pox. From happily cruising along furniture and walking while holding our hands, he regressed to commando crawling. This time the GP referred us to a consultant. Paul and I were scared and worried. Over 2 years of tests tried to establish the problem – including blood tests and CT and MRI scans of Jake’s brain. In July 2013 our local consultant and a consultant from Addenbrookes told us that Jake had mitochondrial disease. He would need a lumbar puncture to determine what type.
In the December I broke my leg and needed surgery. We all moved in with mum for six weeks as I couldn’t climb stairs. During my recovery period, I had a call from Jake’s consultant that no parent wants, “I want to see you and Paul without Jake”. My heart sank.
We learned that Jake’s mitochondrial disease was a form of Leigh’s syndrome – NARP (Neuropathy, Ataxia and Retinitis Pigmentosa). We were told this can be maternally inherited, so I should be tested. After another difficult wait, I was diagnosed with NARP and Jake’s diagnosis was changed to MILS (Maternally Inherited Leigh’s Syndrome).
I’d started to get horrific pain in the leg that I’d broken a few months before my diagnosis and unfortunately it began to spread. It has now developed into widespread chronic pain which is a mix of nerve and muscular pain. Unfortunately, I’m unable to walk long distances due to both the pain and severe fatigue. I also have the most awful muscle cramps, neuropathy and a neuropathic bowel which causes lots of issues.
During my childhood I was always very clumsy, dropping things and falling over. I was always tired and needed far more sleep than my peers. With hindsight, these were signs that something was amiss – but back then, these things just weren’t talked about or explored.
Jake struggles every day with a very weak core which makes him very wobbly on his feet and unable to walk far. He has neuropathy and severe learning difficulties which affects every aspect of life. Jake attends a brilliant special needs school.
Jake and I are very fortunate to have a very special, amazing man in our lives. Paul works full-time in IT which he really enjoys and works extremely hard at. At home, he works just as hard helping me out where I can’t do things and doing things with Jake. This could be looked on as ‘being a dad and husband’, but it’s so much more.
Everything we’ve been through together could have been ‘make or break’ for us, but thankfully Paul and I get stronger every day.
My mum lives nearby and is an amazing help, especially with the many medical appointments Jake and I need to attend. Our support worker Abbi is a godsend and Sven our gorgeous little shih tzu is like a therapy dog for both me and Jake.
No two days are the same living with mitochondrial disease, especially with two of us in the family having it. I hope that by sharing our story others may feel less alone as we did in the early days.
As the most common genetic illness, mito needs to be on a much more level playing field with other more well-known illnesses. That alone would mean such a lot to those who are affected.
It’s great to have this way to tell our story and to encourage others to support our cause too. Any awareness or funds we can raise will raise our hopes of treatments and a cure being found.
Any funds raised by Steph & Jake’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 hosting a bake sale, homing a collecting can to giving out Steph & Jake’s Mito Mission leaflets – there are so many ways in which you can get involved.
If you’d simply like to donate to Steph & Jake’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!
Fundraise and shop!
Other ways you can support us
Visit our Support Us page for more inspiration!
In October 2020 Paul and I came up with the idea for some new merch – light up baubles. I become more and more involved in the charity and I am now a full-time, remote volunteer for My Mito Mission head office as well as running our mission. I have been trained as a web editor and I am a social media assistant.
I love it! It’s just given me a purpose in life back and so much joy.
We’ve built up a great relationship with our local Co-Op shop in Thurston over the years, enabling us to frequently host awareness stalls! We really appreciate their support.
We’re so grateful to have the support of Paul, my husband & Jake’s dad; Sally, my mum and Jake’s nan and Abbi, our support worker & close friend… not forgetting Sven of course!
In 2021, I shaved my head to raise over £800 for our mission, plus some incredible awareness! We jokingly call it ‘Hairless for Awareness’!!
We bring our MitoTed along with us on every holiday or trip we take! It’s great fun and an easy way to raise awareness that ‘Mitochondrial Research Matters to Millions’!
Get your very own MitoTed on the Mito Shop.
In 2024, Steph & Jake’s Mito Mission embarked on a Glow Walk at Center Parcs to raise awareness of mito during World Mito Week!
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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
