Bohring-Opitz Syndrome Awareness Day is celebrated annually on April 6. Its goal is to spread the word on the subject and to lend a helping hand to parents and caretakers by creating connections with those who can relate and are living through similar situations. Bohring-Opitz Syndrome (B.O.S.) is an extremely rare genetic disease, so unusual that there are less than 300 cases worldwide. The day was created by Taylor Gurganus, the vice-chair of the Bohring-Opitz Syndrome Foundation, in 2015, and the date was chosen because it is the anniversary of the first B.O.S. Support Group on Facebook.
History of Bohring-Opitz Syndrome Day
B.O.S. was first described in 1999, but as it happens with new diseases and medical revelations, the panorama wasn’t crystal clear back in the day. Since then, there have been major advances in medicine, and our ability to look for genetic changes has improved in such a way that in 2011, researchers found that more than half of the children they tested with a clinical diagnosis of B.O.S. had a mutation in a gene called ASXL1. This discovery allowed health professionals to learn the cause of the disease, and determine certain facts. For example, B.O.S. is not a hereditary disease, so the risk of having multiple kids with the condition is very low.
The Bohring-Opitz Syndrome Foundation is a nonprofit organization that was established in 2015 by Carrie Hunsucker and Taylor Gurganus. The organization aims to improve the lives of people affected by this disease through the establishment of a medical advisory board, awareness initiatives, and parent/patient advocacy. They have helped countless families via their many assistance programs and increased the sense of community surrounding the disease. They also support research that has increased the knowledge about B.O.S. and its treatments, working hand in hand with the medical field.
On April 6, 2011, the first Bohring-Opitz Syndrome (B.O.S.) support group was created by Sünne van Gemert-Godbersen. Later on, Gurganus, who is the vice-chair of the Bohring-Opitz Syndrome Foundation, then went on to create the Bohring-Opitz Syndrome Awareness Day, to keep spreading the word and supporting the community.
Bohring-Opitz Syndrome Day timeline
Patients present the first-ever recorded symptoms of B.O.S.
Researchers find a mutation in the ASXL1 gene, shared in B.O.S. patients.
Sünne van Gemert-Godbersen creates the B.O.S. Support Group.
Taylor Gurganus and Carrie Hunsucker start the Bohring-Opitz Syndrome Foundation.
Gurganus organizes the first Bohring-Opitz Syndrome Awareness Day.
Bohring-Opitz Syndrome Day FAQs
Who discovered Bohring-Opitz Syndrome?
Bohring-Opitz Syndrome (B.O.S.) was first described in 1999 by Bohring et al.
What’s the difference between Bohring-Opitz Syndrome and Smith-Lemli-Opitz?
Bohring-Opitz Syndrome is caused by a mutation in the ASXL1 gene while Smith-Lemli-Opit is caused by a mutation in the DHCR7 gene.
What is B.O.S. awareness?
The purpose is to educate the public and medical community about the disease and to support families with someone with B.O.S.
How to Observe Bohring-Opitz Syndrome Day
Wear denim and gold
Gold and denim are B.O.S. awareness colors. Gold because most children with this condition are attracted to shiny objects, and denim because it represents rare diseases. You can also wear a B.O.S. ribbon to show your support.
Visit children's hospitals
Hand out Bohring-Opitz Syndrome flyers. Spread the word on the condition and the resources available.
Join one of the B.O.S. events
Join the Bohring-Opitz Syndrome Awareness Day Facebook Event. You can also engage on social media by sharing posts and asking your friends to join too!
5 Facts About Genetic Disorders
The key is in the DNA
Genetic disorders are diseases caused when the DNA sequence changes from its normal form.
Several variations can cause them
Genetic disorders can be caused by a mutation in one gene, multiple genes, a combination of gene mutations and environmental factors, or by damage to chromosomes.
They are quite common
Approximately one in 150 babies are born with a chromosome abnormality.
Down Syndrome is the most common one
According to the U.N., around 3,000 to 5,000 kids are born with Down Syndrome each year.
Most genetic disorders don’t have a cure
Some treatments may slow the disease’s progression or lessen its impact but none can completely cure it.
Why Bohring-Opitz Syndrome Day is Important
It creates awareness
Bohring-Opitz Syndrome is rare and one of the lesser-known diseases. This day puts it in the spotlight.
It leads to more research and support
Bohring-Opitz Syndrome Awareness Day has aided in furthering research. It has also strengthened support for the cause.
It has connected families
This day has connected families who are also navigating living with this disease. It creates a community.
Bohring-Opitz Syndrome Day dates