A mum knew something was wrong when her child was not learning to sit up, talk or crawl as a baby.
Claire Whitehill said she noticed her daughter Kirsty wasn't reaching the same milestones as her siblings had, which raised alarm bells.
The 47-year-old said: “The usual things like crawling, walking, sitting up, talking, she didn’t do those at the time that you would normally expect and because she was our fourth child, we kind of knew that something was wrong.”
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After taking Kirsty to the doctors Claire was was referred by her paediatrician to go onto a research project called the 100,0000 genomes project, which at the time was given the go ahead for funding by David Cameron, who had a child who had died due to a rare genetic condition.
After years of tests and frantic Google searches, Kirsty was finally diagnosed with OCNDS in 2019, when she was eight years old.
Okur-Chung Neurodevelopmental Syndrome is a genetic disease which has only been diagnosed in 220 people worldwide and 30 in the UK. The ultra-rare syndrome is caused by a mutation in the CSNK2A1 gene.
She added: “It was all organised by Oxford University Hospital Genetics. We got our diagnosis through being in that, we had our genetic code sequence and they said, ‘You’ve got this rare disease that was only discovered in 2016,’ and there was only I think at the time less than 30 other people that had been diagnosed with it globally.”
Claire added: “We felt extremely relieved to finally have answers to the unexplained symptoms, I had spent eight years Googling her symptoms and wondering if I had done something wrong to cause the problems. We were grateful to have found a community but also worried because there are so few people diagnosed that it was difficult to find information about what the future holds and what the best treatments and care were.”
Over 10,000 children are estimated to have been born with OCNDS but because of lack of access to genomic medicine diagnosis, treatment and care, there’s only 220 people that have been diagnosed worldwide.”
The only way to diagnose OCNDS today is through a blood test called Whole Exome Sequencing.
She also said: “[Kirsty] has autism and learning difficulties. She goes to a mainstream school but is in an autistic unit that’s attached to it. She is about four or five years behind her actual age intellectually, so the gap between her and her peers is widening. She also has speech delay and short stature. A lot of the other kids with OCNDS have epilepsy but so far, we haven’t seen that in Kirsty.
“Kirsty knows she needs more help with learning than her friends at school do. She’s the only person from her class who attends the on-site Autism unit.
“She doesn't see herself as different to her peers, despite the widening gap, and in fact, she is very popular and well known, because she’s remained in the mainstream school with her friends from the local community. When she walks around the school, everyone knows her by name and greets her affectionately.”
Symptoms of OCNDS can include severe speech delay or inability to speak, global developmental delay, epilepsy, autism spectrum disorder traits, behavioural challenges, and feeding difficulty. Those living with OCNDS have many daily challenges such as swallowing, toileting, dressing, putting on a seatbelt, and making friends.
Liverpool Town Hall, along with seven other monuments in the UK and 18 worldwide, will be lightning up blue and green on Wednesday April 5 for OCNDS day.
The mum, who lives in Windsor, added: "The goal is not only to raise awareness about OCNDS, but also because there are 3 and a half million people in the UK effected by a rare disease.
“The reason for lighting up seven monuments in the UK is to bring awareness, because with awareness comes acceptance.
"Individuals living with OCNDS are more than their diagnosis.
"Kirsty is happy, loving, resilient, determined, and energetic. Someone once said that "Nothing about Rare Disease is simple - not the diagnosis, not the daily care, not the long term.
"OCNDS takes a toll on families financially, emotionally, spiritually, and mentally.
"Daily we wipe away the tears, put on a smile, push through unimaginable exhaustion, and no one really knows our truth - That rare life can be extremely hard, isolating, and heartrending.
"With awareness campaigns, we are shining a light on rare life that affects all communities throughout the world. Our community spans the globe and is connected by a shared experience.
There is power in receiving a diagnosis and a community. With awareness comes acceptance and enlightenment."
She says the organisation wants to illuminate what it’s like for families living with a rare disease and shine a light on equity issues for those who don’t have access to diagnosis, treatment and care.
The CSNK2A1 scheme suggests celebrating the day by attending the lighting of one of the monuments and sharing pictures on social media, wearing green or blue and tagging the scheme’s social media channels. It also suggests donating to the organisation to ensure a better quality of life for individuals living with OCNDS.
Other monuments being lit up include Brighton Palace Pier, Belfast Titanic Museum, Niagara Falls, the Peace Bridge (New York) and Tower 42 in London.
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