'My son's ultra-rare diagnosis took eight years'

When 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.

"It was a normal pregnancy, so we didn't suspect anything," Stephanie said.

"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.

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.

"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."

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

She said she hoped Blue Badgers could also help change perceptions of unpaid carers, who she believed were too often overlooked despite playing a vital role in supporting disabled people.

"So for me, as a mum of a child with additional needs, I was always quite fearful of taking Ben out," Stephanie said.

"Not knowing what's going to be provided at the venue, if the sort of facilities of the changing rooms are going to be nice, or whether I can change him in there, or if he's just going to react terribly to it.

"We want to do is make sure that this information is readily available to our community, so wherever they are they can see what's around and what venues have accessible features."

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