The Big Give: Christmas Challenge
ONE DONATION, TWICE THE IMPACT
New treatments for rare conditions
One donation, twice the impact
Get your donation doubled for free!
The Big Give Christmas Challenge is the UK's largest annual online fundraising campaign where donations to participating charities are DOUBLED through match funding. This means that for every £1 you donate, Action Medical Research receives £2, effectively doubling the impact of your contribution.
The way it works is that we secure pledges from our supporters and additional funds from "Champions" (generous individuals, foundations, or corporations). During a specific campaign week (December 3-10, 2024, for this year), when you donate through the Big Give website, your donation is matched by these funds, as long as match funds are available.
Getting involved is simple:
1. Make your donation online: Donations can be made via the charity's page on the Big Give site from midday 3 December to midday 10 December. You'll know in real time if your donation is matched.
2. Timing matters: The earlier you donate once the challenge starts (3 December), the more likely your donation will be doubled, as matching funds are limited.
It's a straightforward way for anyone to amplify your impact on Action's vital work to help children with Vici syndrome.
Searching for a new treatment for Vici Syndrome
Vici syndrome is a rare and severe genetic condition caused by faults in the EPG5 gene that leads to a wide variety of symptoms in children, including heart problems, delayed development, progressive deterioration of the nervous system, seizures, and repeated infections due to problems with their immune system.
Sadly, there are currently no effective treatments for Vici syndrome, which severely shortens children’s lives, often not beyond their fifth birthday. With Action funding, researchers at University College London, led by Professor Michael Duchen and Dr. Kritarth Singh, hope to change this. They discovered that patients have problems with their mitochondria, which supply vital energy to cells. This knowledge could help identify new treatments.
100% of your donation will support this research, aiming to reduce the heartbreaking impact of Vici syndrome. The team will investigate if poorly functioning mitochondria contribute to nervous system deterioration and seizures, and will test existing medicines to see if they can improve mitochondrial function. The researchers hope their work will lead to a new treatment to reduce the impact on children and their families.
Emmy's story
This research could be incredibly significant
Two-year-old Emmy has Vici syndrome, a rare and life-limiting genetic disorder with no cure. Most affected children lose their lives very young.
“Our beautiful girl is blind, tube-fed, and unable to walk or talk, but her personality shines through,” says her mum Ellie. “She is calm, content, and communicative once you learn her cues. She has a close bond with her big sister.”
Emmy was born in 2021, and early on, Ellie felt something was wrong. Emmy struggled to feed and didn’t track with her eyes or smile. At three months, Emmy was hospitalized for a chest infection, and Ellie voiced her concerns. An MRI found significant brain changes, at 18 months, genetic tests revealed Vici syndrome.
“While we knew Emmy faced health issues, we were completely blindsided by the diagnosis,” says Ellie. Vici syndrome causes a range of severe symptoms, including infections, heart problems, delayed development, nervous system deterioration, and seizures. Emmy also developed epilepsy.
Emmy's care involves multiple medical teams. Despite her physical limitations, she enjoys trying to move, particularly during hippotherapy with horses. “Expectations with Vici syndrome are low, but she tries hard,” says Ellie.
The diagnosis has radically changed the family’s priorities. “We’ve redesigned our lives because nothing clarifies what matters more than having a child like Emmy,” Ellie explains. “We hope for health, happiness, and longevity for her.”
Currently, there are no treatments for Vici syndrome. However, with Action Medical Research funding, Professor Michael Duchen and his team at University College London aim to understand and target the cellular processes involved, testing existing drugs that could help.
Watch Emmy's story
You can make a real difference to children like Emmy
By donating through the Big Give Christmas Challenge you can get your DONATION DOUBLED and help give children like Emmy a brighter future.
Please note: donations are doubled up until the £100,000 target is reached. Any additional donations will be gratefully received and used wherever the need is greatest.
How you can help
The Big Give Christmas Challenge begins at midday Tuesday 3 – midday Tuesday 10 December.