Emma Beal from Brighouse, West Yorkshire became ill at 21 during her university finals. She’d just met the love of her life, Paul. At a time when she should have had the world at her feet, she found herself in hospital and after many tests, received the news that her heart and brain had worrying damage. With two major organs involved, an underlying condition such as mitochondrial disease (mito) was suspected from an early stage. Emma and her family were told that mito was progressive, with no treatment or cure.
There are well over a thousand variants of mito and only 300+ identified so far. However, in 2015 the 100,000 Genome Project was able to confirm that Emma had an identified and rare form of with just two other known cases in the world at that time. The variant affected the MRPL44 gene and carries the scientific name – Combined Oxidative Phosphorylation Deficiency 16, or COXPD16 for short. Apart from fatigue due to the lack of energy her body produced, it also caused Emma’s heart condition – hypertrophic cardiomyopathy – and neurological symptoms such as migraines, balance issues and tremors.
For around two years Emma was quite poorly and debilitated with regular and severe hemiplegic migraines along with the fatigue caused by both her poor mitochondrial function and heart function. Eventually through trial and error, her symptoms were managed well with medication allowing her to lead a relatively normal life. Throughout this time, Emma supported Paul in his ambition to become a nurse. She helped him with his nursing degree and was thrilled when he qualified to became an A&E nurse. Emma had to accept that she wouldn’t be able to follow her dream career in animal medicine but instead became a carer to the extent her own illness allowed – and loved this work.
In 2017 Emma received the news that her heart had deteriorated significantly but her specialists reassured her that additional medication would support and improve her heart function.
In a situation in which it was very easy to feel powerless and isolated, Emma and her family decided to start a charity to help raise awareness and funds for research and My Mito Mission was born. See Our Story for more.
Emma continued to lead as normal a life as possible and continued to care for the profoundly disabled and her grandad with advanced dementia. In September 2017 Emma and Paul went on holiday to one of Emma’s favourite places in the world, Turkey. Unexpectedly during the holiday, Emma quickly spiralled into major heart failure and then multi-organ failure. Despite the wonderful efforts of the Turkish people Emma died aged 28 on 28th September.
The courage and kindness with which Emma faced her illness every day inspires her family to continue ‘Emma’s Mito Mission’ and to empower other families to run a mission around their loved ones too should they wish through ‘My Mito Mission’.