The genetic basis of Down syndrome is and will always be the same. Down syndrome is the full or partial triplication of chromosome 21, which results in common physical and development characteristics of people living with this condition. Some medical tendencies are also part of the syndrome.
Throughout history, Down syndrome has always been the most common genetic condition. Approximately of 1 every 691 babies is born with Down syndrome every year in United States.
Down syndrome was grouped by its physical, developmental and medical characteristics in 1866 by Dr. John Lang Down; this is why the syndrome was named after him. In 1959, Dr. Jerome Lejeune scientifically identified the cause of the syndrome by discovering its genetic conformation while demonstrating the existence of the extra chromosome.
Hundreds of years ago, as expressed in historical records, people with Down syndrome were considered “disabled” and were diagnosed with “mental retardation.” They were confined to institutions, with no opportunities for development or quality of life of any kind.
Fast forward to 2014, a time when people with Down syndrome and their families continue to demonstrate that while living with Down syndrome is not a “typical” circumstance, it is also nothing out of this world. Like anyone else, our children with Down syndrome can achieve the fullest of their abilities if they are raised with love and acceptance, just like any other child.
Down syndrome is not the problem; the problem is the limitations that people assign to it.
So here is the most important information about Down syndrome that everyone should be aware of in 2014.
- There are not “retarded” people, but people with intellectual disabilities doing their best, every day, to take full advantage of their unique abilities.
- There are not “Downs.” People with Down syndrome are people first. There’s no need to label them or diminish their humanity by calling them names such as “Downs.”
- They are not angels, nor do they have super powers of any kind. They are typical people, and idealizing them is not a positive way to express love to them. Real love accepts human beings as typical people with strengths and weakness.
- “Down” is not an adverb that transforms the subject. There are no “Down’s communities” or “Down’s parents” or “Down’s kids”; instead there are communities of parents of kids with Down syndrome.
- People with Down syndrome are more alike than different. They grow and develop as anyone else. They are born as babies, grow as toddlers, tweens, and teens, to become adults. In the process they cross typical stages of development, and our responsibility as parents is to educate ourselves to support them at every stage.
- There is not “mild” or “severe” Down syndrome. People either have or do not have Down syndrome. Instead, there are three different genetic conformations of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4% and mosaicism accounts for about 1%.
- People with Down syndrome don’t come with a manual that dictates their possibilities and their limits. Every person with Down syndrome is unique and has individual talents that will make him or her stand out in a unique way.
As the mother of two children with Down syndrome, I dream of the day that people with Down syndrome will not be judged by their appearance, and instead be given the chance to demonstrate who they are as individuals.