Today is Rare Disease Day.
Today is 28 February, Rare Disease Day! The rarest day of the year, dedicated to raising awareness for people living with a rare disease.
Bohring-Opitz Syndrome (BOS) is a ultra-rare condition with only a few handful of cases worldwide in the beginning. Prior to 2011 the diagnosis relied mainly on recognizing the distinguishable physical characteristics in the appearance of the child, and on the aid of clinical research. From 1975 to 2011, in total only 14 medical articles where published in those 36 years.
Since the de novo mutation in the ASXL1 gen as the cause was discovered in 2011, it is possible to confirm the BOS diagnosis with a DNA test.
In the past 10 years, researchers worldwide continued to share their knowledge about BOS: already 24 studies (with newly presented patients) were published since the ASXL1 gene was found. Almost twice the amount of studies in less than third of the time. All this collaboration helps to increase knowledge about the Bohring-Opitz Syndrome within the medical profession, as well as make it easier for parents and caregivers to provide better care for all our beautiful children – now and in the future.
The rare disease COMMUNITY and its supporters come together today to share the message: Rare is many. Rare is strong. Rare is proud!
Our daughter, Meghan, is now 23 (this week!). She wasn’t diagnosed until 18 as there was no definitive test. If it would be helpful to research, you may contact us for any information about her development over those 23 years.