Receiving a diagnosis of a genetic disorder is a huge shock - especially when there is no history of it in a family. Find out how this happened to parents Elaine and Leigh...
Katie’s our 6th child so I knew things weren’t right within months of her arrival in May ’22. She wasn’t feeding or holding herself well – but I felt constantly fobbed off whenever I raised concerns. After an awful period of severe constipation, Katie was finally referred to a specialist who really listened and took action.
Blood tests showed high lactate levels and an MRI, damage to Katie’s brain. When Katie began having strange movements and absent looks, I pushed for an EEG which found extensive abnormal activity.
The possibility of mitochondrial disease was mentioned in March and Katie’s bloods along with mine and her dad, Leigh’s sent for specialist testing in Cambridge. Further hospital visits confirmed that Katie has visual and hearing impairment, low immunity and susceptibility to respiratory infection. Her reduced swallowing ability means she needs peg feeding.
July brought the devastating news that Katie has a form of mito known as Leigh Syndrome, involving the PDHA1 gene – a fault that’s occurred spontaneously and not inherited. Thankfully this means that our other children are not affected, but it’s still of course horrendous news.
As of 2024, Katie has progressed really well developmentally on the keto diet, but unfortunately the mito symptoms have worsened. She is in and out of hospital and her reduced swallowing ability now means she needs feeding directly into her tummy through a jejunostomy tube.
Through all this, Katie just keeps loving life. She’s the happiest little girl with a smile for everyone. Even when she’s distressed, you can see her trying to smile through her cries. She’s adored by her siblings Marcus, 16; Nathan, 15; Phoebe, 4 and twins Thomas & Emily 3. She also has a heartwarming, special bond with Milanna, who’s the same age with a similar diagnosis whose family we met through social media. Her mum, Reanna’s been my rock.
…about the illness and the importance of research. Research gives us hope that a treatment may be found which could help Katie.
It would be good to think that we can play a part in preventing other people having to go through the same in order to get answers.
Any funds raised by Katie’s mission will go 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 Katie’s Mito Mission leaflets – there are so many ways in which you can get involved.
If you’d simply like to donate to Katie’s mission, choose a way that suits you below.
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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.
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