Spreading Awareness of Bohring-Opitz Syndrome - Ultra-Rare Syndrome Celebrates Its Day in the Spotlight
For Immediate Release
Spreading Awareness of Bohring-Opitz Syndrome
Ultra-Rare Syndrome Celebrates Its Day in the Spotlight
Orlando, Florida (April 6, 2019) This year marks the fifth annual Bohring-Opitz Syndrome (BOS) Awareness Day. On April 6th, people from around the world will shine the spotlight on this rare disorder by wearing denim and gold, and engaging in other awareness events and activities.
BOS is an ultra-rare genetic syndrome with fewer than 60 documented cases in medical literature as of 2015. This number is now estimated to be closer to 200 among parent advocacy groups, as new diagnoses are made through more advanced and available genetic testing. It wasn’t until 2011 that researchers were able to identify that BOS resulted from a mutation on the ASXL1 gene.
Some of the clinical features of BOS include distinct facial features, feeding difficulties, postnatal growth retardation, abnormal neurodevelopment, sleep apnea, gastrointestinal issues (particularly cyclic vomiting), seizures, and intellectual disabilities. Hypotonia (low muscle tone) and poor motor control are also common, and while many are in wheelchairs or require other assisted mobility, some are independently walking.
Despite the many challenges that those with BOS face, they typically have a happy demeanor and learn to adapt to the world around them. Some are verbal, while others have learned to use communication devices or other adaptive methods to communicate.
The BOS community is very passionate and dedicated to educating others about the ultra-rare syndrome. They hope to increase the likelihood of more accurate diagnoses, gain the attention of researchers, and ultimately find potential treatments and best practices for BOS.
Parents have taken an active role by forming the BOS Foundation, Inc., which includes a medical advisory board and various patient family assistance programs There is also a parent-run website that serves as a worldwide exchange of information about BOS and a very active Facebook support group, which includes families from all over the world. All of these combined efforts have brought this ultra-rare syndrome to the attention of many within the rare disease and medical communities.
This fifth year celebrating BOS Awareness Day marks an exciting year of international attention to the syndrome. The BOS Foundation continues to strive to improve the quality of life for families living with BOS. During the first quarter of 2019, the Foundation made a significant financial gift to the UCLA Foundation to support ASXL1 research, launched a financial scholarship program for families, and raised over $4,500 with our annual t-shirt fundraiser. To learn more about BOS and these exciting milestones, please visit www.bos-foundation.org.
Bohring-Opitz Syndrome Foundation, Inc.