Isobel & Iris are 7 year old twins living with their Mum, Lindy, & big sister, Hope. They spent their first 8 months in Intensive Care & High Dependency Units in Brighton & Great Ormond Street (GOSH), London. They had tracheostomies to help them breathe, oxygen therapy, feeding tubes & various medications to keep them alive. Doctors had no idea why they had issues with breathing, low muscle tone, ability to swallow, finger contractures, growth hormone deficiency & diabetes insipidus, amongst other things. Finally in Sept 2017, after being included in a genetic study at GOSH, a diagnosis was found! The girls have Schaaf-Yang Syndrome (SYS), an incredibly rare neurological disorder, with approx 120 diagnosed cases worldwide! The girls were 112th & 113th to be diagnosed, at the time, the only cases in England.
Although the girls are continually developing & astounding their doctors with their progress, they still have significant developmental delay. They're-verbal, tube-fed & Isobel is non-mobile. Isobel has recently begun to weight-bear with help & can sit unsupported if placed in that position, but can't stand or walk YET! Iris has significant Sensory Processing difficulties.
Lindy has contacted other SYS families, via Facebook. She has been inspired by the achievements of other SYS children & discovered therapies that until now she had not heard of. Last week they visited the Freddie Farmer Foundation, in Bromley, & the Physios there are confident their Therasuit & Spider Therapy can help the girls physical development & sensory difficulties. This therapy is carried out in blocks of 2 weeks, for 2 hours a day, but is not funded on the NHS. I’m running the Hastings Half Marathon in order to raise funds needed for the girls to have this therapy & hopefully one day get Isobel WALKING, something most of us take for granted!