Theo is a very bright, cheeky, chatty and loving 7-year-old boy, from Elsenham, Essex, with an awesome sense of humour. As a baby he was always a bit delayed and seemed to really suffer with usual childhood infections, often resulting in a trip to A&E. This delay was put down to being in plaster cast until 3 months old and braced for club feet. At 13 months he caught a cold and was unable to cope, went floppy, started having seizures and was rushed to A&E where he was investigated for meningitis. An MRI of his brain revealed a pattern of Leigh’s disease, a mitochondrial disease that effects the body’s ability to produce energy and resulted in brain lesions in the areas that control movement.
In the following months he made a miraculous recovery, learned to sit, crawl, stand and cruise, but then he caught an infection. It caused a stroke down his left side, followed by his right. He lost the ability to control any of his limbs and couldn’t hold up his head or swallow. The once babbly little boy full of funny noises went silent, other than to scream or laugh. He really suffered with dystonia in all his limbs, particularly his legs, which were constantly doing the splits.
He had genetic testing and a muscle biopsy that revealed ‘PDH deficiency’. In short it means that he can’t process carbohydrates, so energy isn’t able to sufficiently filter through to his mitochondria and power his cells.
Since diagnosis we have fought to get him the right treatments. He is now on the Ketogenic diet and overall doing well, but he does have a lot of ups and downs. Unfortunately, you never know where you stand with this awful condition, one day he can be loving life, super strong, full of chat and in little to no pain; the following day, usually due to a virus or high energy demands on his body, he can lose his speech, strength, coordination and feel really poorly, along with a lot of pain in his legs from dystonia, which also exacerbates hip dysplasia.
We aren’t sure what the future holds for Theo, but we want to give him the opportunity to thrive and enjoy his good days, maintain strength, and give him the chance to build himself back up after periods of illness. This means fundraising for Just4Children for therapies and equipment that the NHS can not provide.
For example, Theo will need mountain bike wheels for his new wheelchair to access forest school and a hand bike attachment for exercise.
Powered wheels for his new wheelchair will also be needed in due course.
This amazing little boy deserves so much more!
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