Sadly, Emma died unexpectedly before the charity was launched. She was very much at the heart of its set-up and continues to give her family and friends the inspiration to continue her mission. We have left Emma’s story below just as she approved it and hope her positivity and courage shine through and help bring strength to others.
Hello. I’m Emma Beal, 28, from West Yorkshire. I have a partner, Paul who’s an A&E nurse and we live in Halifax. I love musical theatre, reading, animals, spending time with family and friends and getting involved at the local pantomime each year.
I had a relatively normal childhood health-wise but in 2010 during my Uni finals I became ill and was hospitalised. As two major organs were found to be affected – my heart and brain – an underlying condition such as mitochondrial disease (mito) was suspected from an early stage.
It wasn’t until 2015 that the 100,000 Genome Project confirmed that I have a very rare form of mito with just two other known cases in the world. It’s only got a scientific name – Combined Oxidative Phosphorylation Deficiency 16, or COXPD16 for short. Apart from causing fatigue due to the lack of energy my body produces, it’s caused a heart condition which restricts my mobility at times and neurological symptoms such as migraines, balance issues and tremors.
There’s no treatment for Mitochondrial Disease itself, but my symptoms are currently being managed really well with medication. I live a pretty normal life and work part time as a support assistant for people with profound disability with Scope. I also help care for my grandad who has dementia. I love this work and think having my own health issues helps me have better empathy with those I look after, and enhanced understanding of their needs.
Mitochondrial disease is progressive but I remain very positive and focus on enjoying living life to the full. Cures for illnesses are found all the time. My Mito Mission is to help increase the chances that a cure can be found in time to help me, and others like me, which helps me to keep feeling hopeful and strong. I hope you’ll be able to help. Whether it’s in a small or large way, I’d be really grateful. Thanks for reading my story.