The story of Sebastian
When our now three-year-old daughter was diagnosed with Kleefstra Syndrome, our family began a journey into the unknown. It was like Harry Potter crossing track 9 ¾ and landing in a new world full of magical beings. In this new world, we met great people from all over the world who were driven by the wish to achieve the best for KS children – just like us.
The Kleefstra Syndrome is caused by an alteration in the EHMT1 gene (and affects neurological development. Intellectual deficit, hypotonia, language delay, autism and many other associated diseases are some of the clinical manifestations that, to a lesser or greater degree, can appear.
We teamed up with engaged families from across the work and we are united in our desire to learn more about Kleefstra Syndrome, to connect families, doctors, caregivers and the scientific community and create the best possible future for our children.
Our daugther is a little girl but a HUGE inspiration.