{"id":10008,"date":"2021-03-03T15:20:08","date_gmt":"2021-03-03T20:20:08","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=10008"},"modified":"2021-03-03T15:20:08","modified_gmt":"2021-03-03T20:20:08","slug":"kirstys-story","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/csnk2a1\/kirstys-story\/","title":{"rendered":"Kirsty’s Story"},"content":{"rendered":"

By: Claire, Parent of Kirsty, a 9 year old with a CSNK2A1 genetic change<\/h3>\n

“…celebrate every small success…”<\/em><\/p>\n

\"\"<\/p>\n

What is your family like?<\/h3>\n

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.<\/p>\n

What do you do for fun?<\/h3>\n

We like to walk, bake, watch rugby and movies.<\/p>\n

Tell us about the biggest hardship you face.<\/h3>\n

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.<\/p>\n

What motivates you to participate in research? How has participating in research been helpful for you?<\/h3>\n

We participate in research to offer hope to future families that there may be a standard of care upon diagnosis.<\/p>\n

How do you feel you are helping Simons Searchlight<\/span> learn more about rare genetic changes?<\/h3>\n

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.<\/p>\n

What is one question you wish researchers could answer about this genetic change?<\/h3>\n

Will cognitive development always be 50% behind or will development halt during childhood?<\/p>\n

What have you learned about your or your child’s genetic condition from other families?<\/h3>\n

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.<\/p>\n

If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?<\/h3>\n

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.<\/p>\n","protected":false},"excerpt":{"rendered":"

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 […]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":8842,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/10008"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=10008"}],"version-history":[{"count":2,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/10008\/revisions"}],"predecessor-version":[{"id":10011,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/10008\/revisions\/10011"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/8842"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=10008"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}