Bohring-Opitz Syndrome Day 2024: Exploring History, Importance and Fascinating Facts

Bohring-Opitz Syndrome Awareness Day, established in 2015, raises awareness and connects parents and caregivers with similar experiences, commemorating the inaugural Facebook Support Group for the rare hereditary disorder.

Bohring-Opitz Syndrome Day 2024: An annual observance of Bohring-Opitz Syndrome Awareness Day occurs on April 6. Its purpose is to raise awareness about the issue and assist parents and caretakers by facilitating connections with individuals who can empathize with and are experiencing comparable circumstances.

Bohring-Opitz Syndrome (B.O.S.) is an exceedingly uncommon hereditary disorder, with a global incidence of less than 300 cases. Taylor Gurganus, vice-chair of the Bohring-Opitz Syndrome Foundation, established the day in 2015. The date was selected to commemorate the inaugural B.O.S. Support Group on Facebook.

The Background of Bohring-Opitz Syndrome Day

B.O.S. was initially delineated in 1999; however, similar to emerging medical discoveries and diseases, the situation was not entirely obvious at that time. After that time, significant medical progress has been made, and our capacity to detect genetic alterations has been enhanced to the extent that, in 2011, scientists discovered that over 50% of the children under examination who had been clinically diagnosed with B.O.S. possessed a mutation in the ASXL1 gene. This discovery enabled medical professionals to ascertain specific facts and the etiology of the disease. For instance, since B.O.S. is not an inherited disorder, the likelihood of having multiple children with the condition is exceedingly minimal.

Carrie Hunsucker and Taylor Gurganus founded the non-profit Bohring-Opitz Syndrome Foundation in 2015. Through a medical advisory board, awareness campaigns, and parent/patient advocacy, the organization endeavors to enhance the quality of life for those impacted by this illness. Their numerous assistance programs have aided innumerable families and fostered a greater sense of community in the face of the disease. Additionally, they provide funding for research that has advanced understanding of B.O.S. and its treatments, collaborating closely with the medical community.

S√ľnne van Gemert-Godbersen established the first Bohring-Opitz Syndrome (B.O.S.) support group on April 6, 2011. Gurganus, the vice-chair of the Bohring-Opitz Syndrome Foundation, subsequently established the Bohring-Opitz Syndrome Awareness Day to continue community support and dissemination of information.

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FAQs for Bohring-Opitz Syndrome Day

Who was the inventor of Bohring-Opitz Syndrome?

The Bohring-Opitz Syndrome (B.O.S.) was initially documented by Bohring et al. in 1999.

What is the distinction between Smith-Lemli-Opitz and Bohring-Opitz Syndromes?

Smith-Lemli-Opit is induced by a mutation in the DHCR7 gene, whereas Bohring-Opitz Syndrome is due to a mutation in the ASXL1 gene.

A.B.O.S. awareness is to what?

Educating the public and medical community about the disease and providing assistance to families of those with B.O.S. are the objectives.

Being Aware Of Bohring-Opitz Syndrome Day

Donning denim and gold

The colors gold and denim represent B.O.S. awareness. Gold because shiny objects attract the attention of the majority of children with this condition, and denim because it symbolizes rare maladies. Also, to demonstrate your support, you may don a B.O.S. ribbon.

Visit institutions for children

Distribute flyers about Bohring-Opitz Syndrome. Inform others about the situation and the available resources.

Participate in a B.O.S. event.

Participate in the Facebook event for Bohring-Opitz Syndrome Awareness Day. Additionally, one can participate in social media by inviting acquaintances to join and sharing posts.

Five Facts Regarding Genetic Disorders

The DNA contains the key.

Genetic disorders are pathological conditions that arise due to deviations from the typical DNA sequence.

Diverse variations may give rise to them.

Chromosome damage, mutations in one or more genes, a combination of gene mutations and environmental factors, or environmental factors can all contribute to the development of genetic disorders.

They are fairly prevalent.

With chromosome abnormalities, about one in every 150 infants is born.

Down Syndrome predominates among all.

The United Nations estimates that between 3,000 and 5,000 infants are born annually with Down syndrome.

The majority of genetic disorders lack a cure.

Although some treatments may mitigate the disease’s effects or delay its progression, none can cure it entirely.

Importance Of Bohring-Opitz Syndrome Day

It induces consciousness.

Bohring-Opitz Syndrome is an uncommon disorder that is relatively unknown. This day brings attention to it.

It results in increased support and research.

Bohring-Opitz Disorder Awareness Day has contributed to the advancement of research. Additionally, it has increased support for the cause.

It has fostered familial unity.

This day has fostered connections between families who are similarly grappling with the challenges of this illness. It fosters the formation of a community.

Bohring-Opitz Syndrome Day Dates

YearDateDay
2024April 6Saturday
2025April 6Sunday
2026April 6Monday
2027April 6Tuesday
2028April 6Thursday

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