My son's ultra-rare diagnosis took eight years

A significant story is unfolding on the international scene. 'My son's ultra-rare diagnosis took eight years'Image source, FamilyImage caption, Stephanie said it was an "isolating experience" after her son Ben was bornByEd James, Radio WM and Tom Oakley, West MidlandsPublished7 July 2026When Stephanie's son Ben was born at full term weighing just 3lb, she knew something was not right. He struggled to feed, failed to reach developmental milestones and, at just six months old, underwent surgery at Birmingham Children's Hospital to remove cataracts. But despite years of tests and appointments, no-one could tell their family why.

It took eight years before former lawyer Stephanie, 43, from Dorridge, finally received the phone call that changed everything but by then, she was 32 weeks pregnant with her third child. Doctors had identified Ben's condition as You-Hoover-Fong syndrome - an ultra-rare genetic disorder that only about 40 people worldwide are known to have, Stephanie said. Image source, FamilyImage caption, Ben's condition was only discovered a few years after he was born"It was a normal pregnancy, so we didn't suspect anything," Stephanie said.

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"When he was born he was only three pounds and all these symptoms started coming. We were just new parents with no clue what to do, looking to medical professionals for answers, but none were forthcoming. "It was a really isolating experience.

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. "When doctors at the hospital discovered Ben had cataracts, the family was referred for genetic testing through the government's 100,000 Genomes Project, external, and after eight years of waiting they received the diagnosis. After years balancing work as a lawyer alongside caring for Ben, Stephanie eventually decided to leave her legal career behind to become his full-time carer.

Image source, FamilyImage caption, Stephanie started Blue Badgers to help children like Ben after his diagnosis But she also wanted to tackle another problem she had experienced first-hand - how difficult everyday life could be for families caring for disabled children. That led her to create Blue Badgers, an online platform and app offering discounts, rewards and accessibility information for disabled people and unpaid carers. "It was a Sunday afternoon during the summer holidays and we decided to take the boys out to a local attraction," she said.

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"We tried to book tickets but it was really difficult to find disabled tickets and tickets for carers, and in the end we just gave up and didn't go. "That was the moment I realised there are millions of carers and disabled people who just aren't being properly recognised. There's something we can do about this.

"'Really stressful'The platform works with businesses to offer discounts while also allowing users to share information about accessible venues through an interactive map, Stephanie said.

The story has become one of the most prominent items on the global agenda.