Paddy has KCNT1-related epilepsy, a rare disease which has no cure and has left him severely disabled. Since he was a tiny baby, he has suffered thousands of seizures. Most devastatingly of all, children with this condition often don’t live into double figures. Action Medical Research is funding research at the University of Leeds to help identify chemical compounds that could form the basis of urgently needed new medicines for children with KCNT1-related epilepsies.
Danny’s family are painfully aware that time with their youngest son will be cruelly cut short by Hunter syndrome, a rare disease with no cure and limited treatment options. Action Medical Research and LifeArc are jointly funding research at the University of Manchester to help improve gene therapy for Hunter syndrome. “Danny lives in the moment and enjoys whatever he has. His smile is totally infectious, and he wins hearts wherever he goes,” says his mum, Sally.
Hypoplastic Left heart Syndrome (HLHS)
Tragically, the rare heart condition Hypoplastic Left Heart Syndrome (HLHS) claimed little Jessica’s life. Parents Michael and Louise describe their family’s heartbreak and hope for the future as Dr Pablo Lamata develops 3D computer modelling to help babies and their surgeons.
Necrotising enterocolitis (NEC)
Born three months early, Jack spent the first four and a half months of his life in hospital. He needed oxygen, help with his breathing, and feeding tubes to survive. He contracted the life-threatening bowel condition necrotising enterocolitis (NEC).
Elijah was born extremely prematurely at 25 weeks and three days, weighing less than 2lbs. Tragically, he lived for just 37 days after contracting the devastating bowel infection necrotising enterocolitis (NEC).
Lily and living with BPAN
Lily was only five years old when she was diagnosed with the rare, disabling and life-shortening condition known as beta-propeller protein-associated neurodegeneration or BPAN. " We were just totally devastated,” says her dad Simon.
Juvenile Batten Disease
Toby, Corey and Izzy's Story
Discovering that three of their children have the devastating, rare condition juvenile Batten disease has, says mum Dee, left the family feeling numb.
Alfie is a lively nine-year-old who loves jokes and playing tricks on people. “He’s a cheeky boy who always wants to have fun,” says mum Samantha. But for Alfie, who has cerebral palsy, having fun is a daily struggle.
Small steps, big breakthroughs
Action Medical Research is the leading UK-wide charity funding vital research to help sick and disabled babies, children and young people. Please watch and share this film..