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In 2007 my first son Okke was born with Bohring-Opitz Syndrome (BOS). Just three weeks after his birth, he was clinical diagnosed with a syndrome of which there were only 20 children worldwide. Bohring-Opitz Syndrome is a life limiting rare congenital disorder with a high infant mortality. Failure to thrive, severe feeding problems, development delay, epilepsy, distinctive facial features like birthmark and cleft lip and palate are a just few from a very long list of symptoms.
Especially the first year with Okke was incredibly tough and overwhelming. We felt isolated and ran from one doctor appointment to another. Continuous fear and uncertainty were with us. And there was no fellow sufferers who could help.
Three years later the Radboud Nijmegen Medical Center, the Netherlands discovered one cause that is responsible for this disease: de novo mutation in the ASXL1 gene. Okke contributed to this study and this mutation was also found in his DNA. It was because of this discovery that I decided to set up a group on Facebook with the hope that if there are no children in Netherlands with BOS that maybe there was the possibility to get in touch with other families worldwide.
Finally, we no longer feel alone. This group offers so much support and all the parents and caregivers there are amazing by helping each other. Our goal is to spread and increase knowledge, so medical professionals, parents and caregivers will provide better medical treatment for all these beautiful children in the future. They deserve it!
In 2013 my son Okke passed away, just 5 years old. But for all the children we still continue to encourages people to learn more about Bohring-Opitz Syndrome. Research is the key to improve the lives of children and their families and carers living with this rare genetic condition.

- Sünne van Gemert-Godbersen