Why this name?

Why this name?

Why has the Bohring-Opitz Syndrome support group on Facebook the name https://www.facebook.com/groups/okketje/?

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“Okketje” is a term of endearment and means wee Okke.
2007 Okke, a little boy from The Netherlands was born with Bohring-Opitz Syndrome (BOS). When he got this diagnosis, just three weeks after his birth, there were only 20 children in the world with this syndrome that had been documented in scientific articles. Especially the first year with Okke was incredibly tough. The family felt isolated and ran from one doctor appointment to another. Continuous fear and uncertainty were with them. And there was no fellow sufferers who could help.

Three years later the Radboud Nijmegen Medical Center discovered the gene that was 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 Sünne van Gemert-Godbersen, the mother of Okke, 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. And so she called the group: Okketje. This was on April 6th 2011, now more than 4 years ago.

Finally, they no longer feel to stand alone before. This group offers a lot of support by sharing our knowledge not only about this syndrome, but also about our concerns. Many of the stories and journeys are sad but happy and precious moments are shared, too.

We try to share the essence of this knowledge on our website www.bohring-opitz.org , an initiative of Sheri Bermejo and Sünne van Gemert-Godbersen started, to collect our experiences, knowledge and information about BOS and make this information accessible to all. The goal is to spread and increase knowledge about the Bohring-Opitz Syndrome with medical professionals, parents and caregivers will provide better medical treatment for all these beautiful children in the future. They deserve it!

Wee Okke is passed away, like far too many children with Bohring-Opitz syndrome died too early, but for all the children now we will continue!

Bohring-Opitz Awareness Day April 6th!