Kirsty’s story: Okur-Chung neurodevelopmental syndrome

Kirsty was born seven weeks premature, so it didn’t raise immediate alarm bells when she didn’t reach her developmental milestones, such as sitting up or smiling. But her parents began to suspect there may have been an underlying issue when Kirsty didn’t walk until she was two and didn’t talk until she was three.

Kirsty’s mum Claire says: “I knew something was wrong, but the health visitors told me it was just because she’d been premature and that she would catch up. But the longer it went on, the more she didn’t catch up.”

Getting a diagnosis

Visits to a paediatrician proved unsuccessful for Claire, with many tests carried out with no answers or signs of anything out of the ordinary coming back. That was until Kirsty was referred to a geneticist who saw something right away.

“The geneticist instantly spotted that Kirsty has webbing between her toes and fingers, a wide bridge to her nose, low set thumbs and ears and a broad mouth,” Claire says.

It was at this appointment, in 2016, that Kirsty was invited to participate in the 100,000 Genomes Project. And three years later, Kirsty’s parents received a diagnosis.

Claire remembers: “We were told that Kirsty had a rare genetic neurodevelopmental condition called Okur-Chung neurodevelopmental syndrome. I was relieved that all of Kirsty’s seemingly unconnected symptoms could be explained by one diagnosis. My biggest fear the entire time had been that we would never find out what was wrong with her.”

“When she was diagnosed, we were told to watch out for epilepsy and heart issues, but otherwise sent home with only Google for support. The condition had only been discovered incredibly recently, so no-one really knew too much about it.”

Living with Okur-Chung neurodevelopmental syndrome

While the diagnosis was hugely welcomed by Kirsty’s parents, there is currently no cure or direct treatment. But a diagnosis has meant Kirsty is able to receive extra support at school and she is now in an autism unit for 80% of the school day.

“Right now, Kirsty is happy at school where she can spend most of her time in a small supportive autism unit. Her options for secondary school seem limited though and are becoming a real concern. There’s no support on offer.”

A diagnosis has also meant Claire was able to seek additional help from the CSNK2A1 Foundation, a charity which provides resources and support for individuals who have been diagnosed and families who have also been affected. She says: “The Foundation has been a huge support to me and my family. It’s helped us to connect with people who are dealing with the same daily reality as us.”

How whole genome sequencing can help those with Okur-Chung neurodevelopmental syndrome

“We couldn’t have received a diagnosis – which meant so much to us – without whole genome sequencing,” Claire says. “The extra support we’ve been able to get for Kirsty, not to mention the emotional side of not knowing what was causing the issues she had, all came from that initial invitation for genomic testing.”

Whole genome sequencing can play an important role in more people around the world receiving a diagnosis like Kirsty. When she was diagnosed, there were only 60 other people in the world with the same condition as her. More diagnoses and more data on what is still a little-known condition means greater awareness and more opportunities for researchers to make breakthroughs.

Claire is now a member of the CSNK2A1 Foundation’s Parent Advisory Board and is their UK Ambassador supporting families who have also been recently diagnosed. She says: “I really want to help more people get access to genetic testing so they too can get a definitive diagnosis.”