Steph & Jake's
Based in Bury St Edmunds, Suffolk
‘Hello. My name is Jake. I am 12 years old and live in Suffolk with my mummy and daddy. And I’m Steph, Jake’s mum. I’m 36 and devoted to my lovely son Jake and husband Paul.’
As told by Steph…
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.
Having just a partial diagnosis and needing
to wait again for further news was really hard.
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 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).
We had to come to terms with
both of us having mito.
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.
We’re lucky to have a
fantastic support network.
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. Our best friends – who are more like family to us – have a child with mito too. It’s a different variant, but it brings us very close. We can talk, cry, rant and whatever we need to do together.
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.
Steph, Jake and family
Raising awareness is something
we are passionate about.
It’s isolating having something people haven’t heard of.
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.
By having our mission we can
be part of making a difference.
Any support you could give
will be so appreciated.
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.
Steph & Jake’s Mito Mission
Get involved and
support Steph & Jake’s cause.
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.
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