Hello, my name is Jake. I am 16 years old and live in Suffolk with my mummy and daddy. And I’m Steph, Jake’s mum. I’m 40 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.
Thanks for reading our story.
Jake is now 16 and growing into a wonderful — and very tall — young man. He goes into a respite service 50% of the time which he loves and has done wonders for his development and growth. Getting to this stage hasn’t been easy.
In May 2024 he became unwell with a cold that quickly worsened, leaving him unable to swallow without choking. He was treated for a chest infection, improved briefly, then declined again. He became exhausted and withdrawn, barely engaging with anything.
Around the same time, in early June, Paul needed gallbladder surgery. Under normal circumstances that would have been challenging enough, but with Jake so unwell, it pushed me to my mental and physical limits.
Just before Paul was allowed to drive again, Jake deteriorated and had to go to A&E. After chest X‑rays ruled out aspiration, he was diagnosed with another chest infection..
Later that week, at The Lily Foundation Weekend, he had several more choking episodes. His specialist speech therapist from Oxford assessed him there and diagnosed dysphagia, putting him on an IDSI Level 5 “minced and moist” diet. This made a huge difference, giving his body the chance to recover. By February 2025 he was able to return to normal foods.
Jake is now doing really well physically and is preparing to start at our local college’s excellent special needs department when he turns 17 in September.
For me, the experience has left a lingering fear of anyone coughing, and my balance and pain continue to be daily challenges. Even so, as a family we make the most of our time together and love travelling. Over the past three years we’ve taken two trips to Disney World in Florida and cherished every moment.
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.
We’d love your support with our fundraising… and we can provide supporting materials. Just ask!
Set up a fundraising page (Use the orange ‘Fundraise For Us’ button)
Set up a Facebook fundraiser by clicking above and searching for 'My Mito Mission'
Download a sponsor form - or contact us to create one specific to your
event
Get in touch to order support materials such as buckets, cans, leaflets...
Collect funds with a change box - Small change, big difference!
Fundraise and shop!
Find our ebay shop easily by clicking 'Save seller'
Visit our second hand clothing shop and follow our account
Support us by purchasing something from our Amazon Wishlist
Support us for free at 100s of stores - click the ‘Find your charity’ button
Click the heart under our charity number to set us as your favourite charity
Other ways you can support us
Nominate Steph & Jake's mission for support at your work or club
Collect saleable, used items that we can sell in our ebay shop
Check out the merch in our shop to raise awareness and funds
Let us talk to your organisation about our cause
Come to our events and help us raise vital mito awareness and funds
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!
At the 2024 Meet Up, we took part in an interview telling our story and how we our started our mission!
You can watch the video here or by going to My Mito Mission’s YouTube Channel.
