Children’s charity Action Medical Research has launched a new fundraising campaign to help raise funds and encourage awareness of the importance of more research into rare diseases in children.
With 75% of rare diseases affecting children, and 30% of children with a rare disease losing their lives before they are five,[1] Action is striving to develop treatments and cures to tackle rare diseases that together affect so many forgotten children.
Children like Danny, whose life will cruelly cut short by Hunter syndrome, an incurable rare disease that damages the brain, leading to progressive behavioural and learning difficulties and loss of physical skills.[2] Danny was diagnosed with Hunter syndrome when he was three years old, having had a history of developmental delay. Tragically, later tests would find that he had the worst possible outlook – a complete gene deletion in his DNA.
Danny’s mum Sally says: “We will lose our beautiful son to Hunter syndrome, but any new hope is worth fighting for. Support for rare disease research is so important so that families in the future don’t have to feel that the bottom is dropping out of their world.”
The charity has a track record in funding research to better understand rare diseases in children and in helping to develop treatments and cures for a range of devastating and often life-limiting diseases.
In the 1990s, Action Medical Research awarded Professor Bobby Gaspar a Research Training Fellowship to study two life-threatening immunodeficiency disorders, which occur when the body’s natural immune system is absent or not working properly. At this time the conventional treatment for these disorders was bone marrow transplant, which carries risk if the donor match is poor. Professor Gaspar’s pioneering work has led to new gene therapy treatments which are now saving children’s lives.
The charity was honoured to have Professor Bobby Gaspar (Honorary Professor of UCL Great Ormond Street Institute of Child Health) attend and speak at their recent research event, where the Children’s Rare Disease Research Campaign was launched.
He says: “Rare diseases affect thousands of children each year in the UK and more needs to be done to help find answers and to develop new treatments and cures for these often devastating conditions. It’s only with the support of charities like Action Medical Research that research happens. The funding from Action can help in a range of different applications from diagnosing rare conditions, to understanding and treating them. Every new development brings hope for families affected by rare and often life-limiting diseases.”
Sarah Moss, Director of Communications at Action Medical Research, says: “Thousands of families across the UK are coping with the challenge of caring for children with rare and devastating diseases for which there are no cures. We know that research has the power to fight these diseases and that children’s lives can be saved, but we cannot do it alone.”
To find out more about the campaign and how Action is helping to support vital research to develop treatments and cures for children living with a rare disease, visit www.action.org.uk/rare.
References
- The Department of Health and Social Care, 2021. The UK Rare Diseases Framework. Available online at: https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/950651/the-UK-rare-diseases-framework.pdf. [last accessed November 2022].
- Hunter syndrome – a guide to understanding MPS II. The National MPS Society. Available online at: https://mpssociety.org/learn/diseases/mps-ii/. [last accessed November 2022].
-ENDS-
Notes to editors
Link to images: https://www.dropbox.com/sh/9jixzsakdpr42qu/AAC9I16mzuupa3MsjBjrJRola?dl=0.
For more information on Action Medical Research contact:
Grace Wardley, Communications and Engagement Officer:
T: 07725 090008 or out of hours PR phone: 07754 320281
Follow us on Twitter at @actionmedres and @amr_events
Like our Facebook page at @actionmedres and @actionevents
Follow us on Instagram at @actionmedres and @actionevents
Action Medical Research is the leading UK-wide charity dedicated to saving and changing children’s lives through medical research. For 70 years we’ve helped pioneer ways to prevent disease and develop treatments benefiting millions of people. Our research has helped to beat polio in the UK, develop ultrasound in pregnancy, fight meningitis and prevent stillbirths. But we urgently need to develop more new treatments and cures for sick babies and children and we can’t do it without you.
Join our fight for little lives today.
Charity reg. nos 208701 and SC039284.