To put a face to the page, this is me (Alice, left) and my sister is on the right. She was diagnosed with Kleefstra Syndrome in 2011 and has since the age of 11 lived in a care home. My family and I visit her often, once a week now with covid, however, previously we went more often.
"Kleefstra syndrome (Ks) is a rare genetic disorder characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features. The predominant cause of Ks is a tiny piece missing (known as a deletion) from near the end of chromosome 9. However individuals with a mutation, or intragenic duplication also carry a Ks diagnosis. The deletion or mutation affects a gene called EHMT1 (Euchromatic Histone Methyltransferase 1) and it’s absence or disturbance is believed to cause the major symptoms of the syndrome.
There isn’t a one-size-fits-all description of Ks because there is a wide range of symptoms and an even wider range in the severity of those symptoms.
Most cases of Ks are de novo meaning they are not inherited from either parent, however even though rare it has been known for a child to inherit the 9q34.3 deletion from an unaffected parent who is mosiac for the deletion. Mosiaic means that an individual has the deletion is some cells but not in others. Also very rarely individuals with Ks have been known to reproduce and pass the disorder onto their children." (Kleefstrasyndrome.org)
This is a short introduction but as time goes on, more information shall be shared specifically regarding Kleefstra and what it means for me to have a sibling with Ks.
Much love
The Kikker Project 🐸 💕
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