<p>March is Trisomy Awareness Month, and every year on March 21st, the world comes together to recognize World Down Syndrome Day, the most familiar of the trisomy conditions. It’s a time to not only celebrate individuals who are thriving, but also to raise awareness and promote understanding of trisomy disorders including Down syndrome.</p> <p>A deeper delve into these disorders shows how the lives of these people are no less valuable or notable than that of an ordinary person, emphasizing the importance of diversity and inclusion.</p> <h2>Trisomy disorders 101</h2> <p>These are genetic disorders characterized by the presence of an extra chromosome in an individual’s cells. That extra chromosome leads to a range of physical and developmental issues, the most well-known of which are the characteristics of people with Down syndrome.</p> <h3>A sneaky extra copy got in there</h3> <p>Trisomy disorders happen when a deviation occurs within a person’s chromosomal makeup. Chromosomes are cellular structures that carry your DNA, and you receive one set of chromosomes from each parent. </p> <p>In a healthy person, you have 23 pairs of chromosomes, making 46 in total. In trisomy disorders, there’s an additional copy of 1 chromosome, so 47 in total, and this additional material triggers various developmental abnormalities.</p> <figure><img alt="" height="574" src="https://cdn.storymd.com/optimized/Ro62lKhXox/original.jpg" width="574" /> <figcaption>Trisomy (Down syndrome) <em>Source: U.S. National Library of Medicine</em></figcaption> </figure> <h2>Causes of trisomy disorders</h2> <p>Errors in cell division during the formation of eggs or sperm are the usual cause of the problem. Cells divide in order to create pairs through copying themselves, and that copy contains half the amount of DNA as the original cell. Each pair has a number.</p> <p>Sometimes, a chromosome pair fails to divide and both copies end up being included in the egg or sperm. During fertilization, those two copies join the one from the other parent, and you get three in total, creating a trisomy (meaning “three bodies”). This process isn’t predictable and is not the fault of the parents.</p> <h2>Types of trisomy disorders</h2> <p>The most common trisomy disorders involve specific chromosomes being affected:</p> <ul> <li>Trisomy 13 (Patau syndrome)</li> <li>Trisomy 18 (Edwards syndrome)</li> <li>Trisomy 21 (Down syndrome)</li> </ul> <h3>Patau syndrome</h3> <p>Although rare compared to Down syndrome (Patau syndrome appears in 1 in 10,000 to 1 in 16,000 live births), this condition is still considered one of the more common trisomy disorders. Affected individuals have an extra copy of chromosome 13.</p> <p>Distinct physical features like a cleft lip and microcephaly (small head) characterize the condition, along with major health conditions of the heart, kidneys, and GI tract. It is a brutally unforgiving disease: the median life expectancy is 7 to 10 days, and 90% pass away within the first year of life.</p> <h3>Edwards syndrome</h3> <p>People with Edwards syndrome have an extra copy of chromosome 18. It’s a highly severe condition that impacts development and growth. Edwards syndrome is characterized by low birth weight, numerous birth defects, and signature physical characteristics like a small, abnormally shaped head and a small jaw and mouth.</p> <p>Due to the presence of several life-threatening medical problems, many individuals with Edwards syndrome die before birth or within their first month. Five to ten percent of children with this condition live past their first year, and these children often have severe intellectual disability.</p> <h3>Down syndrome</h3> <p>The most prevalent and well-known trisomy disorder. It involves having 3 copies of chromosome 21 instead of the usual 2, causing features like almond-shaped eyes, flattened facial profiles, and a deep crease across the palm. Around 1 in 700 babies are born with Down syndrome.</p> <p>Cognitive delays and varying degrees of intellectual disability are common. Lifespans have made a monumental turnaround: today, people with Down syndrome can live past 60, whereas in the early ‘80s, their life expectancy was only around 25 years. </p> <figure><img alt="" height="594" src="https://cdn.storymd.com/optimized/LoOM3ZurqP/original.jpg" width="1054" /> <figcaption>Common traits in trisomy 21 (Down syndrome) <em>Source: CDC</em></figcaption> </figure> <h2>Living with a trisomy disorder</h2> <p>Naturally, trisomy disorders present unique and serious challenges for people and their families. Specialized medical care, early intervention, and educational support are essential to help patients maximize their potential.</p> <p>Despite the perception that these disorders are insurmountable and lead to total dependencies, many patients lead fulfilling lives and make significant contributions to their communities. People with Down syndrome have succeeded in athletics, running restaurants, modeling, and acting, among many other professions.</p> <h3>Pablo Pineda</h3> <p>Pablo was the first person with Down syndrome to complete a university degree in Europe. He is an actor and educator who completed a diploma in teaching and earned a BA in Educational Psychology.</p> <p>He won an award in 2009 for his performance in the film Yo, Tambien, a movie about a university graduate living with Down syndrome.</p> <h3>Advancements in research</h3> <p>Investigations into the genetic and molecular mechanisms underlying trisomy disorders may lead to the development of targeted interventions and therapies. These new therapies may have huge implications for the quality of life of patients. </p> <p>For example, there are clinical trials underway in Spain for a new drug that may potentially improve the cognitive function of people with Down syndrome.</p> <h3>Respect and personal worth</h3> <p>Trisomy disorders have a long and troubled history with rejection, both from families and wider society. These conditions, however, are not indicative of a person’s value or potential. </p> <p>People with trisomy disorders are still individuals with their own stories and journeys, and their genetic makeup should not dictate whether they are deserving of love, respect, and opportunity. Embracing this facet of the human tapestry enriches us by making our society a more compassionate and understanding one.</p> <h2>World Down Syndrome Day and Trisomy Awareness Month</h2> <p>This is a time to advocate for the rights of people with trisomy disorders and support their inclusion in every area of life. There are still ingrained beliefs that these people are inferior or incompetent, leading to fewer opportunities and social isolation.</p> <p>Even at the level of healthcare, there remain issues with ableism affecting those with trisomy disorders. Some healthcare providers exhibit biases that impact the delivery of healthcare services, potentially resulting in health disparities for these patients.</p> <h2>More on Trisomy Disorders</h2><ul><li><a href="https://soulivity.storymd.com/journal/j6gk842hzw-trisomy" target="_blank">Trisomy: Types of Genetic Trisomy Disorders</a></li><li><a href="https://soulivity.storymd.com/journal/qjoaonosnw-chromosome-disorders" target="_blank">Chromosome Disorders: What Happens When Cell Division Goes Wrong</a></li><li><a href="https://soulivity.storymd.com/journal/rjygr7y0yj-down-syndrome" target="_blank">Down Syndrome: Risk Factors, Causes, Management</a></li></ul>