The story of Sünne
Soon, on February 29th there will be RARE DISEASE DAY and I want to share my PATIENT VOICE with you. In 2007 my first son Okke was born with Bohring-Opitz Syndrome (BOS). When he got clinical his diagnosis, just three weeks after his birth, there were only 20 children in the world with this syndrome. Bohring-Opitz Syndrome is a life limiting rare congenital disorder with a high infant mortality. Failure to thrive, severe feedings 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. Now there are still less than 60 children diagnosed with this syndrome and presented in medical articles worldwide.
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. All our experiences and knowledge on BOS are so valuable that we decided to start the first website about Bohring-Opitz Syndrome: www.bohring-opitz.org. 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 to improve the lives of children and their families and carers living with this rare genetic condition.
On April 6th , the first day of the support group on Facebook is our Bohring-Opitz Syndrome Awareness Day. This year we will celebrate our 5 years Anniversary. Please help us to make up the VOICE of children living with Bohring-Opitz Syndrome and their families and carers, to bring them out of isolation and put them in the spotlight by wearing GOLD & DENIM on April 6th. Please LIKE and SHARE us. Thank you!