Monuments across the UK to be lit up to raise awareness of rare genetic syndrome

An array of high-profile monuments across the UK will be lit up this Saturday to raise awareness of a rare genetic syndrome.

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

Some of the common symptoms of the syndrome include speech delay or inability to speak, learning disabilities, autism traits, epilepsy, short stature, cognitive impairment and feeding difficulties.

Kirsty Whitehill, 13, from Windsor is among those with the syndrome.

She was diagnosed in 2018 after being put forward for the 100,000 Genomes Project, announced in 2012 by former Prime Minister David Cameron.

Kirsty’s mum Claire Whitehill said there are 300 families diagnosed globally, 36 of which are in the UK and Ireland.

The CSNK2A1 Foundation’s annual International OCNDS Awareness Day will take place on Saturday, April 5 and a host of monuments will be lit up in the foundation’s blue and green colours.

Some of the monuments due to be lit up include Tower 42 in London, Titanic Belfast, Alexandra Palace, Cardiff Castle, The National Library of Wales, Gateshead Millenium Bridge, Newcastle Civic Centre and Glasgow Train Station.

The day serves as an opportunity to raise awareness of the challenges faced by those with OCNDS, while also fostering supporting and understanding for the wider rare disease community.