Down syndrome is the most common chromosomal condition diagnosed in the United States, affecting about 6,000 U.S. babies born each year [1]. CDC joins families and partners in commemorating March 21 as World Down Syndrome Day.
Mark’s Story, as told by his sister, Sonja
Fifty-three years old, employed, living independently, an active member of his community -- it would have been hard to imagine that these words would ever describe my brother Mark when he was born with Down syndrome in 1960. The doctor’s advice at the time was typical of the era. "Institutionalize him,” he said. “It's best for your family." My parents ignored that advice, took Mark home -- and found a new doctor.
Our family is justifiably proud of all that Mark has accomplished since then, often confounding the experts of the day. Our small town in Minnesota didn’t have any educational opportunities to offer Mark, so initially he was transported to a distant town for school. Over time, our local school system was able to accommodate him. At first only segregated classes for the "mentally retarded" (a term now considered to be offensive) were offered – and kids were divided into classes based on whether they were labeled as "educable" or "trainable" (also now obsolete terms). But by the time Mark reached high school, he was included in some regular classes and participated in extracurricular activities, even serving as manager for the wrestling team – something that was practically unheard of at the time for a student with an intellectual disability. After high school, Mark moved into a brand new group home in our town. Three years later, he moved into his own apartment. He’s been living independently ever since, and working steadily at a local fast-food restaurant.
Mark has enriched my life in countless ways, including guiding my career path. When I was in high school, I was alarmed when my biology teacher said the average survival for persons with Down syndrome was 16 years (Mark was 14 at the time). My first goal was to become a genetic counselor; then I went back for training to become a pediatrician and clinical geneticist. After joining the Birth Defects Branch at CDC, one of my first projects was to examine survival among persons with Down syndrome -- our study, published in Lancet in 2002, showed that survival was 49 years in 1997 (as estimated by median age of death from US death certificates).
While I’m delighted with Mark’s many personal triumphs, I’m also aware that there are lots of challenges ahead. I know, for example, that a significant proportion of people with Down syndrome develop Alzheimer’s disease. Thankfully, Mark doesn’t show any signs of it, but we monitor him closely – a task that might be easier if there were more healthcare providers in rural Minnesota knowledgeable about adults with Down syndrome. And Mark’s work situation always feels a little bit shaky. Even though he’s been a loyal employee for many years, he’s often the first to have his hours cut when college students come home for the summer or when the economy struggles. It’s not easy.
Yet Mark takes all this in stride. He leads a happy and worthwhile life, proud of his work and secure in the love of his family and friends. Every day, he tries to do his best in everything he does – which, of course, inspires everyone around him to try to do the same. Mark’s quite a guy -- I’m lucky to be his sister!
Down Syndrome
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes within each cell in the body. Genes are the instructions that cells use to determine how a baby’s body forms and grows during pregnancy, and how a person’s body functions after birth. Typically, a baby is born with two of each chromosome for a total of 46 chromosomes. Babies with Down syndrome have an extra copy of one of the chromosomes, called chromosome 21. Down syndrome is also referred to as Trisomy 21 (3 copies of chromosome 21). This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Even though people with Down syndrome might act and look similar to each other, each person with Down syndrome is unique. Down syndrome remains the most common chromosomal condition diagnosed in the United States. About 6,000 babies are born in the United States with Down syndrome each year. This means that Down syndrome occurs in about 1 out of every 700 babies [1]. Like Mark, many people with Down syndrome live well into adulthood and lead productive, inspiring lives.
CDC’s Activities
CDC’s National Center on Birth Defects and Developmental Disabilities (NCBDDD) works with partners to increase information about Down syndrome through tracking and research and to improve the lives of people with Down syndrome and their families.
- Tracking: Tracking where and when individuals with Down syndrome are born and where they are living gives us important clues about opportunities to improve outcomes and help plan for services for affected families.
- Research: To understand how Down syndrome impacts affected children and their families, CDC and its partners conduct studies on health service use, survival, and other conditions that people with Down syndrome might have (e.g., autism or Alzheimer’s disease).
- Improving the lives of individuals with Down syndrome: CDC provided funding to develop Brighter Tomorrows, an initiative to educate healthcare providers on how to counsel families receiving a diagnosis of Down syndrome. Additionally, CDC worked with partners to develop “Your Baby and Down Syndrome,” a brochure of valuable information for healthcare providers to provide to new parents.
References
- Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A; National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-16.
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