Bohring-Opitz Syndrome Awareness Day, otherwise called BOS Awareness Day, happens on April 6th every year. The purpose of the day is to teach both the general population and the medical community about the disease and to help families who have somebody with BOS.
What is Bohring-Opitz Syndrome (BOS)?
Bohring-Opitz Syndrome is a rare genetic condition that outcomes from ‘spelling mistakes’ (otherwise known as mutations) in genes. The syndrome is named Bohring-Opitz after the two doctors who published a paper depicting some of the early cases. People with BOS have a wide scope of symptoms. Some of these symptoms are found in all people with BOS and some are found now and again yet not all. Some of the more common symptoms incorporate extreme learning difficulties, a characteristic posture with twisting at the elbows and wrists, a red birthmark on the forehead, prominent eyes and taking care of troubles.
Bohring-Opitz Syndrome is a very rare genetic syndrome. There are roughly 150-200 cases around the world. This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene. The main source of death is respiratory diseases. Children with BOS can have taking care of difficulties, repeating respiratory diseases, sleep apnea, developmental delay, failure to flourish, anomalous hair density and length, Wilm’s Tumors, brain abnormalities, and silent desire.
BOS is an ultra-rare genetic syndrome with under 60 recorded cases in medical literature starting in 2015. This number is presently assessed to be more like 85 among parent advocacy groups, as new diagnoses are being made through further developed and accessible genetic testing. It wasn’t until 2011 that scientists had the option to identify BOS was an aftereffect of a mutation on the ASXL1 gene.
Some of the clinical highlights of BOS incorporate distinct facial features, feeding troubles, postnatal growth retardation, abnormal neurodevelopment, sleep apnea, gastrointestinal issues (especially cyclic vomiting), seizures, and intellectual handicaps. Hypotonia (low muscle tone) and poor motor control are likewise common, and keeping in mind that many are in wheelchairs or require other helped versatility, some are independently walking.
Notwithstanding the numerous challenges those with BOS face, they have a happy demeanor and frequently figure out how to adapt to their general surroundings. Some are verbal, while others have figured out how to use communication gadgets or other versatile strategies to communicate.
The BOS community is extremely passionate and dedicated to instructing others about the ultra-rare syndrome. The expectation is to improve the probability of more precise diagnoses, gain the consideration of researchers, and at last discover potential treatments and best practices for BOS.
Guardians have played a functioning role by forming the BOS Foundation, Inc., which incorporates a medical advisory board and developed an exceptionally active support group on Facebook with families from everywhere throughout the world. There is likewise a parent-run website that serves as an overall exchange of data and awareness on BOS. These joined efforts have brought this ultra-rare syndrome to the consideration of numerous within the rare disease and medical communities.
Why is Bohring-Opitz Syndrome Awareness Day celebrated?
Bohring-Opitz Syndrome Awareness Day was picked because that is the day that the Bohring-Opitz Syndrome support group was made on Facebook, on April 6th, 2011. This group has encouraged such a large number of families to interface everywhere throughout the world. This Group Support Group permits parents and caretakers of those children who live with these diseases.
With Bohring-Opitz Syndrome Awareness Day, we want to urge individuals to get familiar with Bohring-Opitz Syndrome to improve the lives of children and their families and caregivers living with this rare genetic condition.
Why this Colors?
Numerous kids with Bohring-Opitz Syndrome are experiencing high myopia. Differentiating colors like blue and yellow are the best-seen colors.
Bohring-Opitz Syndrome is a rare genetic condition. Under 60 cases are reported around the world. Blue denim is the awareness color for rare and genetic diseases.
Our children love sparkling objects like gold. Or more every one of, our children are extremely valuable. The diamond is to honor every one of our kids who became wings too soon.
Why April 6? Why Gold and Denim?
Bohring-Opitz Syndrome Awareness Day happens on April 6th every year. Taylor Gurganus, a co-founder of the BOS Foundation, organized the first Bohring-Opitz Syndrome Awareness Day on April 6, 2015. April 6th was chosen for BOS Awareness Day since it is the anniversary of the formation of the first BOS Support Group on Facebook.
This Support Group permits parents and caretakers of those living with this rare syndrome to speak with somebody who identifies with their triumphs and difficulties.
Guardians from The Support Group selected the color gold to represent BOS Awareness because of most kids with BOS like shiny, bright objects. They selected denim (jeans) since it represents rare diseases. Taylor had a gold and denim ribbon made to promote BOS Awareness, and it keeps on being a symbol of help and trust in those influenced by Bohring-Opitz Syndrome. Following in the soul of the originators of Bohring-Opitz Syndrome Awareness Day, the BOS Foundation is building the awareness movement to assist those living with Bohring-Opitz Syndrome.