In August 2024, Paige’s family were shocked to be told that she didn’t have mitochondrial disease after 6 years of having the diagnosis. Her webpage remains here because Paige’s story illustrates how challenging getting a correct mito diagnosis can be, and because Paige and her family will always be a part of our My Mito Mission family. Please read on for more…
Hello. I’m Paige, I’m 9, and live in Antrim with my mummy, daddy, big sister Aimee Rose, and little sisters Chloe and Miah. Some of my favourite things are being tickled, being with my sisters (who all love me to bits) and having fun and family time in my hydrotherapy hot tub. And I love, love, LOVE Peppa Pig!
Paige’s health problems began with having seizures at five weeks old. A muscle and skin biopsy early this year confirmed that she has a complex 1 mitochondrial disease respiratory defect, but as yet the exact gene that has caused it hasn’t been identified.
Our hope for Paige’s is that treatments and a cure may be found so that mito will have less impact on her life going forward and allow her to live a full life.
One day she could be falling all over the place and on others walking around fine. Paige has both hearing and sight loss, is non-verbal, needs a feeding tube, has weakness on her left side and muscle tightness in her left leg. She gets chest infections regularly for which she needs nebulizer and inhalers.
The more research into mitochondrial function, the more chance there is for treatments to be found … not only for mito sufferers like Paige, but for the millions with the common conditions known to be linked to mito too.
Please help us raise awareness and funds for research in any way you can.
After six years of having a mitochondrial disease diagnosis, Paige’s family were shocked to be told that she didn’t in fact have it.
When the muscle and skin biopsies back in 2019 showed mitochondrial deficiency, mito was suspected and the diagnosis given for Paige of mitochondrial disease. The family are unsure what genetic exploration was undertaken at the time, but the diagnosis remained unchanged throughout the following years.
When the seizures Paige has experienced throughout her illness worsened significantly in spring 2024, it resulted in months of hospitalisation where the seizures could not be controlled with medication. This led to advanced genetic testing being undertaken which resulted in an actual diagnosis of gnao1 encephalopathy – of a rare form of epilepsy.
Paige’s story shows how complex diagnosing mitochondrial disease can be. In mitochondrial disease, mitochondrial dysfunction is ‘primary’ i.e. the origin of the illness. However, mitochondrial dysfunction also appears in many more illnesses, on a ‘secondary’ level, which means the dysfunction is due to a different, primary disease. This includes gnao1 encephalopathy – which can explain why mitochondrial dysfunction showed in the biopsies.
On the very plus side, Paige’s recent hospitalisation resulted in her undergoing deep brain stimulation surgery which has been successful in bringing her seizing under much more control. Paige is now back at home with her mum, dad and sisters and happily attending school.
We are supporting Paige’s family throughout finding alternative charity help, with the specialism they now need. Together, we have made the decision to keep Paige’s webpage active – not only because her story is an example of the difficulties around a mito diagnosis, but because the family will always be a part of our charity.
It’s hard when your child is chronically sick. When it’s a little-known illness and there’s an uncertain prognosis and limited understanding from the world at large, it can be even harder.
Feeling powerless to do anything about it can be very hard
too. That’s why Paige’s family want to be a part of raising
more awareness for mito … and hopes of treatments and a cure.
Josie and Mark and their family and friends plan to
raise funds to the extent they can. This is of
course around their unwavering priority of ensuring
that Paige is taken care of.
Other people’s kindness in helping out with their
mission will go such a long way in taking it forward
… and in helping Paige’s family to feel as hopeful
and supported as possible.
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My Mito Mission is a Charity Registered in England & Wales No. 1176616 at c/o KT Hydraulics, Gannex Park, Dewsbury Road, Elland HX5 9AF
