A family from Dorridge has spoken out about the eight-year search for a diagnosis for their son's rare genetic condition. Ben, who was born at full term weighing just 3lb, struggled to feed and failed to reach developmental milestones. He underwent surgery to remove cataracts at the age of six months, but despite years of tests and appointments, no-one could tell the family why.
It wasn't until Ben was 11 years old that doctors identified his condition as You-Hoover-Fong syndrome, a rare genetic disorder that affects only about 40 people worldwide. The diagnosis was made after the family was referred for genetic testing through the 100,000 Genomes Project.
Stephanie, Ben's mother, has spoken about the challenges the family faced in finding a diagnosis. 'It was a really isolating experience,' she said. 'I couldn't really join the mum and baby groups because I didn't know how to relate to other parents whose babies were developing normally.'
Ben's diagnosis has also led to the creation of a new platform, Blue Badgers, which offers discounts and accessibility information for disabled people and carers. The platform, which was founded by Stephanie, aims to support families with disabled children and carers, and to help change perceptions of unpaid carers.