Parents of two children suffering from an uncommon illness are urging people to donate toward groundbreaking research that could benefit their offspring and patients worldwide.
The couple, whose son and daughter both carry the same genetic condition, are hopeful medical progress might transform their circumstances and offer reassurance to relatives elsewhere.
Colin Wells and Joanna MacLeod first crossed paths while appearing in productions at Glasgow’s Citizens Theatre. Their relationship blossomed quickly, and they married within twelve months as they anticipated their firstborn.
The early years of their marriage were happy, with Colin achieving success in acting and their young daughter bringing them great joy, according to Joanna.
However, by the time Rachael reached five, her parents observed she lacked the strength of her peers and frequently stumbled. At six years old, she experienced sudden hearing loss.
At that point, the situation became unbearable. They could not have predicted how much worse things would become, Joanna said.
At fifteen, Rachael received confirmation she had RRM2B-related mitochondrial disease, an uncommon, worsening inherited disorder that impairs the body’s capacity to generate energy. Medical professionals informed the family no remedy existed.
Several years passed before another crushing setback occurred. Their son Joseph, called JoJo, received the identical diagnosis.
Today, both young people face the harsh daily implications of an illness that progressively diminishes bodily functions. Rachael now requires continuous assistance.
She depends on mechanical breathing support during sleep and occasionally during daytime hours when chest infections strike or exhaustion becomes severe. She receives sustenance via a tube threaded into her heart and needs help with nearly all physical activities.
Rachael is intelligent and witty, surrounded by devoted friends who are all living independently while she remains trapped in a deteriorating body. Watching this is heartbreaking for her mother, who described the situation as devastating.
Rachael’s brother JoJo maintains better physical condition than his sister but carries the burden of knowing what may lie ahead.
He has seen the disease progress directly, Joanna noted. He experiences significant isolation. Work is not possible while his peers build careers and families. This is deeply painful.
The situation confronting this family, who reside in Epperstone, echoes the struggles endured by households globally dealing with RRM2B mitochondrial disease, including an Australian teenager named Emily McKenna – whose mother originates from Manchester and father from Liverpool – and preceding her, Charlie Gard from London.
Charlie’s brief yet impactful existence brought worldwide recognition to RRM2B mitochondrial disease. His experience moved countless individuals and exposed the harsh realities confronting families managing the condition.
Now, Charlie’s influence persists through young individuals such as Emily, Rachael and JoJo, all managing the same merciless, progressive illness.
Like Charlie’s relatives, these families have been informed no cure exists. They have observed RRM2B mitochondrial disease progressively strip away vitality, self-reliance and numerous everyday liberties that most young individuals consider automatic. Every day represents a battle for additional shared time.
For the initial occasion, genuine optimism now exists. The relatives of Emily, Rachael and JoJo have united to establish More Tomorrows for Mito, a fundraising initiative backing development of an innovative gene-based treatment for RRM2B mitochondrial disease through a UK-registered charitable organisation.
Unlike existing approaches, which merely address symptoms, gene therapy targets the fundamental genetic root of the disorder.
Significant preliminary investigation has commenced and is establishing a possible route toward eventual therapy for those with RRM2B mitochondrial disease. Nevertheless, immediate financial support is required to advance the subsequent pre-clinical investigation phase.
The campaign builds upon extensive efforts by families internationally, including Emily’s relatives in Australia, who have previously contributed funds toward developing the innovative treatment.
For families affected by RRM2B mitochondrial disease, this campaign transcends scientific investigation. It encompasses additional birthdays. Additional recollections. Additional family celebrations. Additional ordinary shared moments. Essentially, it concerns generating additional tomorrows.
They never expected a potential cure would become possible – even discussing gene therapy feels miraculous, Joanna said.
The possibility of a single treatment that could effectively turn off the defective gene and restore what this illness has taken away represents something they hardly dared to imagine, she explained.
Colin and Joanna haven’t had an evening out together for years because Rachael needs constant care. Simply having a meal together would bring them so much happiness.
They want to return to work. Most importantly, they want their children to have a future. It would be devastating if they, along with other young people living with this condition, were denied this chance simply because there wasn’t enough funding to continue the research.
Regarding mitochondrial disease from medical experts:
Mitochondrial disease constitutes a severe, progressive disorder potentially affecting individuals across all age groups. Since mitochondria supply energy to every cellular structure, the condition may damage nearly any organ.
Manifestations can encompass muscular weakness and exhaustion, inadequate development and growth delays, visual and auditory impairments, cardiac, hepatic and renal complications, alongside challenges with swallowing and respiration.
Professor Rita Horvath, professor of neurogenetics at the LifeArc Rare Mitochondrial Disease Centre Department of Clinical Neurosciences at the University of Cambridge, explained that gene therapy represents one of the most promising advances in modern medicine, with the potential to correct faulty genes and transform the lives of patients living with mitochondrial disease and many other inherited genetic conditions.
She noted that at present, there is no approved cure for most mitochondrial diseases, including RRM2B-related mtDNA depletion syndrome.
She added that this important patient-led initiative aims to help develop a genetic treatment specifically for RRM2B-related mitochondrial disease, offering hope not only for these children and families, but potentially for many others affected by related genetic conditions in the future.
She believes advances in genetic medicine have the potential to change the future for patients living with devastating mitochondrial diseases caused by RRM2B mutations and other inherited genetic disorders.
Every contribution to More Tomorrows for Mito will advance the groundbreaking investigation, moving researchers nearer to a therapy that could reshape existence for families managing RRM2B mitochondrial disease and potentially provide significant knowledge for other uncommon inherited mitochondrial conditions.
The family requires £450,000 to produce and administer the therapy planned for June 2027.
For Colin, Joanna, Rachael and JoJo, the message is straightforward: they are not asking people to feel sorry for them. They are asking for help to turn hope into reality. Together, they can give families like theirs something they’ve never had before – more tomorrows.