Meet Aria, our beautiful 3 year old daughter!
Aria has an ultra-rare mitochondrial disease caused by a mutation in the LONP1 gene. She lights up the room even though she cannot talk, walk, sit up, crawl or even eat or drink by mouth. She can laugh and oh that smile! Every child is special but Aria is different!
She is the sole example of her disease on planet earth.
Aria has a mutation in LONP1 Unique to her. Doctors said the only others known of globally, sadly didn’t live past 2 years old.
Aria is a fighter, now 3 years old. Help us fight for her right to live!
Your donation will help us discover the full mechanism of her disease and provide urgent fast tracked drug discovery and breakthrough cutting-edge treatment solutions. You can find out more on our plans here
Your donation will allow us to work with international research organisations who specialise in individualised N-of-1 medical research and solutions. One exciting pathway is to discover therapeutic molecules from a database of 40,000+ compounds to restore health. This could lead to actionable life-changing treatment in some form for Aria within 12 months, if you help us make it possible.
Aria’s fate is in our hands, this donation can be decisive in helping her live long enough to develop a cure such as gene therapy.
Aria’s Story
The first sign that our path would be different came when Aria failed her initial hearing screening. This concern deepened when the genetic profiling identified a rare "De novo" genetic mutation in the LONP1 gene.
“De novo” means that the mutation is not inherited, but spontaneous when she was conceived. The rarity of her condition was underscored by the knowledge that only two other children worldwide had been identified with this mutation, and heartbreakingly, neither had survived past 2 years old.
We are so fortunate to have two beautiful children.
But navigating mitochondrial disease in the UK often feels isolating and hopeless, a sentiment echoed by families of children like Indi Gregory and Charlie Guard.
These stories, and our own, underline a pressing need for a shift in how mitochondrial diseases are approached and treated.
The complexity of mitochondrial disease affects every cell, primarily impacting organs with high energy demands. An RSV infection leading to a catabolic crisis highlighted the nuances of managing mito in acute situations, emphasizing the necessity of tailored care and the importance of advocating for adherence to international guidelines that saved Aria’s life during her ICU stay. . PLEASE DONATE FOR ARIA
In a world filled with worthy causes, we are reaching out for support to help save our angel, Aria. The work itself also may help people in a much wider sense as our mitochondria are at the route of almost all disease, such as neurodegenerative diseases (e.g. Alzheimer’s and Parkinson’s disease), cardiovascular disease, cancer and even aging.
Your generosity can help us navigate this challenging journey, bringing hope and potentially life-changing treatments into Aria's life. Please join us in our fight to give Aria a brighter future.
Doctors diagnosed Aria with a life-limiting Mitochondrial disease, turning our world on its head. Despite the gravity of her diagnosis, Aria's spirit remains unbreakably joyful, a beacon of happiness that continually astonishes us. Our mission has since been to explore every avenue to grant her the longest, happiest life possible.
Yet, Aria's case is uncharted; her unique genetic makeup means no existing medical roadmap can predict her journey or outcomes.
Aria's third birthday was a milestone met with mixed emotions, a reminder of the precious time we cherish with her.
Despite the challenges—her bilateral deafness treated successfully with cochlear implants at 17 months, her struggle with hypotonia preventing her from sitting or crawling—Aria finds joy and exploration in her unique way of rolling around, demonstrating resilience and a zest for life that fills us with joy.
PLEASE DONATE FOR ARIA
Our reality includes balancing the wellbeing of our son and the omnipresent fear of new infections that could critically impact Aria. This has led us to the conviction that Aria's hope lies within the global medical and scientific community. Our current campaign aims to fund a drug repurposing project in the USA with Unravel Biosciences and research with Charles River Laboratories in the UK. Moreover, Aria needs a team of specialists in her Gene as well as physical therapeutics from leading centres globally.
