Lucia's story: Hao Fountain Syndrome

Shortly after Lucia was born, her mother Francesca noticed that she was behind on several milestones, especially compared to her older sister when she was Lucia’s age.

“There were a few signs, all little things, that told me there was something going on,” Francesca recalls. “Even at 9 months Lucia had no support in her legs. She took her first steps around the time of her second birthday, and while I had it in my mind to not compare children, I was aware of the gap between her and my eldest who had done that before turning one.”

Other signs that prompted Francesca to see a paediatrician included a potential focusing issue – when Lucia looked up at her parents she would look up and to the left – and that she wasn’t talking. “She babbled and it was almost like she had her own language,” Francesca says.

The family first saw a paediatrician around the time Lucia was 2 years old, and it was also around this time that they joined the 100,000 Genomes Project. Francesca remembers being certain at this point that something wasn’t quite right and was supportive of anything that might ultimately help Lucia.

Getting a diagnosis

In September 2024, just after Lucia had turned 10, the family received a call telling them that a diagnosis had been found for Lucia. They were told that Lucia had a spelling mistake in her USP7 gene and the name of the condition was Hao Fountain Syndrome. It was a powerful moment for Francesca: “The call came totally out of the blue. It was an amazing moment to get a diagnosis and finally have the answer we’d been searching for for so long. We’d been getting yearly updates after joining the 100,000 Genomes Project saying that scientists hadn’t found anything, so I’d almost given up hope at that point. I’m so glad we didn’t.”

Following the diagnosis, the family reached out to the charity Unique who put them in touch with a handful of other families.

Living with Hao Fountain Syndrome

Today, Lucia loves singing and dancing and is in an additional resource school so she can be best supported. Because Hao Fountain Syndrome is a recently discovered condition, much is still unknown about it. When Lucia received her diagnosis, there were only around 250 known cases in the world.

But Francesca is grateful for the knowledge and what it provides: “Being able to put a name to Lucia’s condition has meant a lot. There’s lots of new information about it that could come out, but we do know for example that there are certain other conditions, like scoliosis, that she is more prone to. Even having that kind of information means we can look out for things.

“And being able to reference what the condition is when talking to the teachers at school, understanding more about how we can help Lucia – all of that has been so helpful. It can be difficult to get that support if you can’t say exactly what the issue is.”

How whole genome sequencing can help those with Hao Fountain Syndrome

Whole genome sequencing through the 100,000 Genomes Project gave Lucia and her family the answers they had longed for. Francesca is supportive of research initiatives like it and of genomic testing. She says: “After our experience being a part of the 100,000 Genomes Project, I’m open to everything. It’s important for people to have as much knowledge and information as possible so they can help their children.”