By: Claire, Parent of Kirsty, a 9 year old with a CSNK2A1 genetic change
“…celebrate every small success…”
What is your family like?
We live in Windsor UK and have 4 children. The boys are 19 and 17 and the girls are 12 and 9. Our 9 year old daughter Kirsty has OCNDS (Okur-Chung Neurodevelopmental Syndrome) and was diagnosed aged 8 as part of the 100,000 Genomes Project.
What do you do for fun?
We like to walk, bake, watch rugby and movies.
Tell us about the biggest hardship you face.
Currently we are undecided about whether it is better to keep Kirsty in mainstream education or send her to a Special school. We struggle to get Kirsty to go to sleep at night. Also she struggles with constipation.
What motivates you to participate in research? How has participating in research been helpful for you?
We participate in research to offer hope to future families that there may be a standard of care upon diagnosis.
How do you feel you are helping Simons Searchlight learn more about rare genetic changes?
OCNDS has a wide spectrum of difficulties, so offering information about our unique story and implications of the mutation is helping to build the bigger picture.
What is one question you wish researchers could answer about this genetic change?
Will cognitive development always be 50% behind or will development halt during childhood?
What have you learned about your or your child’s genetic condition from other families?
We have learnt that there are some adults with OCNDS who are working and living independently. That there are some OCNDS adults with the mental age of children. That epilepsy is a symptom to look out for. That autism is part of the syndrome.
If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?
To participate in research and be as involved as possible with the (Simons) Foundation. To celebrate every small success and not to compare your child with their peers.