My name is Claire and I have lived in Windsor since 2001. Our daughter Kirsty has a rare genetic syndrome which has only been diagnosed in 220 people globally and 30 in the UK.
Kirsty is 11 years old and suffers from Okur Chung Neuro Developmental Syndrome (OCNDS), which is caused by a change on the CSNK2A1 gene in chromosome 20. Common symptoms include learning disabilities, Autism, speech delay, Epilepsy and short stature. I am a member of the CSNK2A1 Parent Advisory Board and the UK ambassador for OCNDS.
Wednesday, 5 April is International OCNDS Awareness Day. This year we have 18 monuments lighting up in the UK, USA and Canada to raise awareness for OCNDS. These include Tower 42 and the mast at Alexandra Palace in London, OVO Hydro in Glasgow, the Gateshead Millennium Bridge Liverpool Town Hall and Niagara Falls.
Our goal is to bring awareness to not only OCNDS but also to all other rare conditions too.
3.5 million people in the UK are affected by rare condition.
Our event seeks to illuminate what it is like for families living with a rare condition. In addition, we hope to shine a light on equity issues for those affected. Families affected by a rare condition need equitable access to diagnosis, treatment, health, social care, and opportunity.
The prevalence of OCNDS is estimate as 1:100,000, which means since its discovery, over 10,000 children have been born with OCNDS. Yet, only 220 people have been diagnosed worldwide. We have a problem. Access to health care and social determinants are enormous hurdles to receiving a diagnosis, care, and treatment. In countries without genomic medicine, thousands of patients remain undiagnosed, without a community, without support, and without treatment. We must do better. We must improve access to diagnosis, care and treatment for people affected rare conditions.
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.
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.
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