For years – we talk about many years ago – they were not seen on the street because parents hid them and also had a rather shorter life expectancy. Then they went out into the streets, entered the schools, in the working world, their life expectancy grew, we saw them participate in sports, play musical instruments, play in the squares…
Now they have disappeared again because the new techniques of prenatal diagnosis make it possible to detect the genetic alteration in the early stages of pregnancy and opt for abortion.
We are talking about people with Down Syndrome. And I want to emphasize the concept “people with Down Syndrome”, because when we refer to them simply with the name of their syndrome we forget that they are people.
Down Syndrome is not a disease, but a chromosomal anomaly that has some diseases or conditions associated with it. People have 23 pairs of chromosomes. One of them determines sex, the other 22 are numbered 1 to 22. People with Down Syndrome have 3 chromosomes in pair 21, instead of having only two, so it is also known as “Trisomy 21.” This genetic alteration is always accompanied by some degree of intellectual disability and a characteristic physiognomy.
It is the most common cause of intellectual disability, between 30% and 40% of the total. It is estimated that there are 6 million people with Down Syndrome in the world. Approximately one in every 700 babies in the United States is born with Down syndrome – about 6,000 each year.
The name comes from John Langdom Down that in 1866 scientifically described this alteration, however, it was not until 1958 when Jérôme Lejeune did not discover the associated chromosomal alteration.
Each person with Down syndrome is different and may or may not develop them, but there are usually a number of more prevalent diseases such as:
- Heart disease: Some heart problems are minor and are treated with medication, others may be more serious and require surgery.
- Vision problems, in more than 60% of cases. Above all, cataracts or myopia.
- Hearing problems, in 70% of cases and tendency to ear infections.
- Increased susceptibility to infections.
- Decreased muscle tone and strength, although with stimulation they can participate in physical activities.
- Insomnia and apneas.
- Increased dental problems.
- Gluten intolerance.
However, having Down Syndrome does not determine the way of being of these people who will look physically and in personality to their parents, will have individualized hobbies, desire to live and projects to perform… different personalities.
Early stimulation, inclusion in schools not segregated for them, the possibility of access to jobs and higher studies, while medical advances have made these people can reach an average age of 60 years with a Life.
Little by little society has evolved towards a generalized acceptance of these people, to recognize their rights to develop, to be happy, to learn, to work, to enjoy leisure …
On the other hand, but a stigma, a bad news, is still being considered, together with prenatal detection techniques that are increasingly precocious and less aggressive (can be performed with a simple blood test) and an important pressure of Society (family, doctors and even ourselves) to end their life in its earliest stages.
We must be realistic, it is true, they are children who are going to need a lot more dedication and that the concern for their future will be greater, but they are people (having an extra chromosome does not change their human condition), with an important difference. As is often said in the areas of Down Syndrome care, it is one more variant within normality.
The National Down Syndrome Society is a leading human rights organization for all individuals with Down syndrome and a good way to start if you want to help.