16/09/2025
✨Kleefstra Awareness Day 2025✨
This is Sophie 💜 Sophie was born with a rare genetic condition called Kleefstra Syndrome.
Today we not only celebrate 8 months of Sophie, but we are celebrating Kleefstra Syndrome awareness day.
We are also celebrating that Soph slept from 9:30pm-7:30am. Today is a big day for us, as our girl is having an MRI under a general anaesthetic.
Kleefstra Syndrome is a rare genetic condition caused by the deletion or mutation of the EHMT1 gene on chromosome 9. There are around 30 people in Australia who have been diagnosed with Kleefstra syndrome & only about 1,000 in the world. Sophie is currently the only child in the Logan catchment to be diagnosed with Kleefstra Syndrome. The only clinic in Australia who specialise in Kleefstra Syndrome is at the Royal Children’s in Sydney.
Every single Kleefstra syndrome child is different in their own way. Some can be severely affected, while others can be minimally affected. At this stage we do not know how affected Sophie will be.
Sophie’s diagnosis has meant a lot of medical appointments with different specialists. Her team so far consists of an amazing paediatrician, an amazing GP, ENT, respiratory & sleep, OT, PT& Speech, as well as the amazing Kleefstra Clinic team at the Sydney Children’s Hospital. She also has referrals and is awaiting appointments with genetics, genetic counselling cardiac & ophthalmology. Unfortunately genetics has made us a category 3, even though we have had a genetic test confirming Kleefstra Syndrome.
Please wear purple today for Sophie & other Kleefstra Syndrome kids.
Please feel free to share this post to help raise awareness for Kleefstra Syndrome.
