Who we are

Sheri and her family rondSheri was born and raised in Los Angeles, California.  She has a degree in Urban Studies and Planning from the University of California, San Diego, and works full time as a City Planner.  During her college years she studied abroad at the University of Madrid (La Universidad Complutense).  It was in Madrid where she fell in love with her husband, Carlos.  After spending several years living and working in Madrid, Sheri and her husband married and moved back to California in 2003.   They have two girls, Carmen (6 years old) and Eva (3 years old). Through social networks, a nurse at Children’s Hospital of Los Angeles was able to help diagnose Eva with Bohring-Opitz Syndrome.  Sheri was able to learn more about Bohring-Opitz Syndrome (BOS) from corresponding with mothers on the Bohring-Opitz Syndrome Facebook page.  If mothers from around the world didn’t share their experiences, they would have never been able to diagnose Eva.  Sheri continues to share Eva’s story in hopes that it will inspire others to never give up.   She also is a firm believer in family centered care, especially when caring for a chronically ill child.  In April 2013, Sheri presented Eva’s story to a team of physicians at Children’s Hospital Los Angeles at a Palliative Care and Comfort Conference. In her free time, Sheri loves spending time with her family and rediscovering life through the eyes of her children.

familienfoto

Sünne, born and raised in a very small village in Germany, lives for studies 10 years in Berlin and then the love let her moved to The Netherlands. Together with her husband Rob they have four children: Okke is born 2007 and become wings 2013. He has a younger brother (2009) and younger twin brother and sister (2010). Okke was born with a very rare syndrome, called Bohring-Opitz Syndrome. “When we got this diagnosis, just three weeks after his birth, we were told that there were less than 20 children in the world with this syndrome that had been documented in scientific articles. Three years later the Radboud Nijmegen Medical Center discovered the gene that was responsible for this disease: de novo mutation in the ASXL1 gene. Our son, 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. Five years later, our international group has grown to about 70 children with more than 230 members worldwide. This gives us the feeling that we are not alone. This group offers a lot of support and we share our knowledge with each other not only about this syndrome, but also about our concerns. Many of our stories and journeys are sad but we share happy and precious moments too. There is one important fact: we as parents are the experts about our children with this rare syndrome. We try to share this knowledge on our website, an initiative of Sheri Bermejo and I started, to collect and make this information accessible to all. It is our goal that spreading and increasing 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! Okke is no longer living, … but it is through this work that he lives on!”

AnnaAnna was born and raised in Cambridge in the UK.  She has degrees in Employment Law and Personal Injury Law, and works full time at Cambridge University Research Operations Office.  Anna is Nanny to Ben, who was born on 11 August 2012. Ben was diagnosed initially with Craniosynostosis and then Bohring-Opitz Syndrome.  Anna wanted to research further into BOS and has compiled a list of symptoms, derived from the original research, but added to by contacting the parents of BOS children belonging to the Facebook group for Bohring-Opitz. Anna is currently in contact with a doctor at the University of Cambridge, who conducts research into rare diseases, in order to highlight BOS and to hopefully instigate further research. In her spare time Anna likes to spend time with all of her 5 grandchildren.