High profile monuments to light up to raise awareness of rare genetic syndrome

A host of high-profile monuments in the UK and around the globe are set to light up this April to raise awareness of a rare genetic syndrome.

Okur-Chung neurodevelopmental syndrome (OCNDS) was first discovered in 2016 and is caused by a change on the CSNK2A1 gene, located in chromosome 20.

Common symptoms of the syndrome include autism, speech delay, learning disabilities, short stature, and epilepsy.

Among those with the syndrome is 11-year-old Kirsty Whitehill, from Windsor, who was diagnosed in 2018, after being put forward for the 100,000 Genomes Project, which was announced by former Prime Minister David Cameron in 2012.

Kirsty’s mum Claire Whitehill explained that the syndrome has only been diagnosed in 30 people in the UK and 220 people globally.

She added that the prevalence rate is estimated to be one in 100,000, meaning that, since its discovery, more than 10,000 children have been born with the syndrome, however have not been diagnosed due to a ‘global shortage of access to genetic diagnosis, to care and treatments’.

CSNK2A1 Foundation’s annual International OCNDS Awareness Day takes place on Thursday, April 5 and this year, 17 monuments will be lighting up in the blue and green colours of the foundation’s logo across the UK, USA, and Canada to raise awareness of the syndrome.

As well as Niagara Falls, in the UK seven monuments will be lit up including Tower 42 and the mast at Alexandra Palace in London, Gateshead Millennium Bridge, OVO Hydro in Glasgow and Glasgow Central Railway Station clock, Liverpool Town Hall and Meadowhall Shopping Centre in Sheffield.

Explaining the main goal of lighting up the monuments, Claire, who is a member of the CSNK2A1 Parent Advisory Board and the UK ambassador for OCNDS, said: “[It is] to bring awareness not only to OCNDS, but to rare disease in general because there are three-and-a-half million people in the UK that have a rare disease.

“So the idea is to illuminate what it’s like for families living with a rare disease and shine a light on equity issues for those with rare diseases.”

She added: “It’s incredibly important [to raise awareness] because not many people know of this particular one [syndrome].

“But also, there’s not a lot of knowledge out there about rare disease in general, but it’s incredibly common so a lot of people who have autism, for example, it’s possible that they may also have a genetic syndrome but they just don’t know about it because they’ve never had the test.

“So I think there’s so much isolation when you’re a rare disease parent – people really don’t understand what you’re going through, so just to get that awareness raised is just good for everyone and it helps all of the rest of the community to understand what you’re going through.”

For more information visit: csnk2a1foundation.org/