Action Medical Research is proud to announce that its moving film ‘Emmy’s Story’ has been nominated in the prestigious Smiley Charity Film Awards. The film highlights the journey of Emmy, a two-year-old living with Vici syndrome – a very rare and life-limiting genetic disorder.
Vici syndrome, caused by faults in the EPG5 gene, leads to severe symptoms including heart problems, developmental delays, seizures, immune deficiencies and progressive nervous system deterioration.[1] Tragically, most children with this condition do not live beyond their fifth birthday. Emmy is one of only 100 known individuals globally battling this incurable disease.[2]
Despite a challenging year in 2024, including Emmy’s hospitalisation with severe COVID-19, Emmy’s family remains resilient and hopeful. Their strength is bolstered by the ongoing research funded by Action Medical Research which has identified potential pathways to mitigate some of the condition’s effects.
"With Emmy’s condition we will always have to be careful about infection, particularly during winter, but through all this, love and moments of joy have kept us going. Emmy has started school two days a week finds joy in her equine therapy. We take each day as it comes but we are happy that research funded by Action Medical Research could help Emmy and other children with Vici syndrome."
Please help share our story and raise awareness by voting for Emmy’s story in the Smiley Charity Film Awards.
The film celebrates Emmy’s courage, her family’s resilience and the hope that research brings. Your vote can amplify their story and help raise awareness of this rare and devastating disease for which there is no cure.
Watch the film here.
Vote for free here.
Every vote brings us closer to making a difference for Emmy and other children with Vici syndrome.
Find out more about Emmy’s story and research funded by Action Medical Research: https://action.org.uk/research/family-stories/emmy-vici-syndrome.
References
- Byrne et al. Orphanet Journal of Rare Diseases (2016) 11:21. DOI 10.1186/s13023-016-0399-x.
- Alzaharani, A., Alghamdi, A. A., and Waggass, R. (2018). A Saudi infant with Vici syndrome: Case report and literature review. Open Access Maced. J. Med. Sci. 6 (6), 1081–1084. doi:10.3889/oamjms.2018.271.