Tomorrow is Bohring-Opitz Syndrome (BOS) Awareness Day!
If that illness doesn’t sound familiar to you – you’re not alone. BOS is a very rare disorder; so rare that estimates number at around 85 known cases in the world. And some estimates have that number even lower. In fact, it wasn’t until 2011 that researchers were able to identify what causes BOS; a mutation on the ASXL1 gene.
Some of the common features of BOS include craniofacial features (where parts of the head enclose the brain and face), postnatal growth retardation, abnormal neurodevelopment, sleep apnea, gastrointestinal issues, seizures, and intellectual disabilities. Some patients also suffer from hypotonia and poor motor control, resulting in wheelchairs confinement or assisted mobility — while others lack verbal prowess and require communication devices.
Despite the ultra rare disease status, health advocacy groups have made a push to raise awareness.
One such effort has resulted in the BOS Foundation. Established in 2015, the BOS Foundation dedicates itself to “improving the lives of people affected by BOS through the establishment of a medical advisory board, awareness initiatives, and parent/patient advocacy,” according to its mission statement. They are doing a lot of the leg work to shine a much needed spotlight on an otherwise unknown disease.
Which brings us to tomorrow! April 6th has been designated as BOS Awareness Day, which is now in its third year.