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Sole Survivor – Aria’s race against time

Just4Children is fundraising to fund a drug repurposing project in the US with Unravel Biotech and research with Charles River Laboratories in the UK. Aria needs a team of specialists in her gene as well as physical therapeutics from leading centres.
£6745
Total raised
2%
£250,000.00
Target
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79 donations

Sole Survivor – Aria’s race against time

Just4Children is fundraising for Aria to fund a drug repurposing project in the USA with Unravel Biotech and research with Charles River Laboratories in the UK. Aria needs a team of specialists in her gene as well as physical therapeutics from leading centres globally.

What would you do if you were told that your child had a severe life-limiting disease with no cure or effective treatment?

What would you do if you were told that her gene mutation is unique worldwide and the only other two children with a similar gene mutation identified globally had passed away even before reaching 2 years old?

This is our reality! This is Aria, our beautiful 3 years old daughter. She lights up the room even though she can’t talk, walk, sit up, crawl or even eat or drink by mouth.

She can laugh and oh that smile! That smile keeps us going and gives us the HOPE that we can find effective treatments and eventually a cure.

Every day that passes, without any effective treatment, her disease will progress and even her smile could be taken away by this devastating disease.

Aria is a fighter every single day! Help us fight for her right to live! We can’t do this alone!

Your donations will help us discover the full mechanism of her disease and provide urgent fast tracked drug discovery and breakthrough cutting-edge treatment solutions.

Your donations will also allow us to work with international research organisations who specialise in individualised N-of-1 medical research and therapeutic 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. You can help 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 genetic profiling, identified a rare “De novo” genetic mutation in the LONP1 gene. Meaning it was 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 a very similar mutation, and heartbreakingly, neither had survived past 2 years old.

Doctors diagnosed Aria with a life-limiting Mitochondrial disease, turning our world on its head. We all have mitochondria! Mitochondria are the powerhouse of almost every cell of the body that help convert food into energy, among other cellular functions. For someone with a mitochondrial disease, any organ can be affected, especially the ones with high-energy demand such as the brain, muscles and heart.

Aria’s case is uncharted. Her unique genetic makeup means no existing medical roadmap can predict her journey or outcomes. 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.

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.

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. Our reality includes balancing the wellbeing of our son and the omnipresent fear of new infections that could critically impact Aria.

A bout with 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.

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. Aria needs a team of specialists in her gene as well as physical therapeutics from leading centres globally.

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 diseases, such as Alzheimer’s and Parkinson disease, cancer, heart disease 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.

See more about Aria here

Thank you.

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