Saturday, October 19, 2013

Downs Syndrome

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Back in the 1960’s the British education system was the envy of the world: but it wasn’t great for everyone, especially children who had genetically inherited diseases. Those who had graduated to High School - or as the English called it, Grammar School were mainly Anglo Saxon and generally all fairly healthy. Those who suffered from genetic illnesses such as Haemophilia were admitted, yet readily identified by having to wear red armbands as a warning sign to others - but which in some cases proved to be an invitation to bullying from the less socially inclusive teenager of the time. People who suffered from other genetic conditions such as Down’s syndrome - known in those times as Mongolism because of their non Anglo-Saxon facial features - were sent to special Homes where they might have been heard, but they definitely were never seen.
So we should give our current education systems a huge pat on the back for their far more enlightened attitude to “Education” in the most inclusive sense of the word. Now, whilst schools must rightly focus on improving and guiding the young mind, it must also pass on the social skills that are essential for the smooth running of our far more pluralistic society here in the 21st century. The current high school would have pupils from many different ethnic backgrounds, and most would also have students who also have physical or mental disabilities - or as some would describe them, exceptional students! And the most common disability in this group of students is Downs Syndrome.
Downs Syndrome is a genetic disease where there are three copies of the 21st chromosome and which leads to the classical features of those with the problem, which are
  • Flattened facial features
  • A Small head
  • A Short, squat neck
  • A Protruding tongue
  • Eyes that slant upwards and which are unusual for the child's ethnic group.
  • Unusually shaped ears
Children with Down syndrome may also have:
  • Poor muscle tone
  • Broad, short hands with a single crease in the palm
  • Relatively short fingers and a short thumb
  • and they’re joints are hyper-flexible
In the early part of their lives, they develop as all children do, but will often take much longer to achieve their milestones of crawling, sitting and walking. But they’re also incredibly loving children too. As they continue to grow, they will often be of shorter stature than their peers, and more likely to put on weight and to become obese.
As well as the obvious external signs of Downs syndrome, these children can also have other very real medical challenges to cope with as well. Such as
Heart defects. Approximately half the children with Down syndrome are born with some type of heart defect. These heart problems can be life-threatening and may require surgery in early infancy.
Young children with Down syndrome are more likely to develop leukemia than are other children.
Infectious diseases. Because of abnormalities in their immune systems, children with Down syndrome are much more likely to catch infections, such as influenza and pneumonia.
Dementia.  Symptoms and signs of dementia may appear before age 40 in people with Down syndrome. And not only that, those who become demented also have a higher rate of seizures.
Other problems. Down syndrome patients can also get gastrointestinal blockage, thyroid problems, early menopause, seizures, hearing loss, premature aging, skeletal problems and poor vision.
These children face huge hurdles in every facet of their lives.
But there is some good news for them: about 100 years ago the life expectancy of someone born with Downs was death before the age of 10. Nowadays, people with this genetic disease can live up to the age of 50 years and even beyond that depending on the severity of their problems.
But as well as the obvious physical differences, there are mental disabilities to deal with. And this is an area where there have been great changes both for the individual and for the community as a whole.
As I said earlier, in times past, people with Downs were often sent to special “Homes” where they were kept away from the eye of the public. Today they are integrated seamlessly into the school environment, to the betterment of all concerned. But behind the scenes, there is - or at least there should be - a team of professionals supporting the individual and their families to cope with the many problems that each child faces. This team would contain some or all of the following professionals:
  • A pediatric cardiologist
  • A pediatric gastroenterologist
  • A pediatric endocrinologist for the glandular problems
  • A developmental pediatrician
  • An audiologist
  • A physical therapist
  • A speech pathologist
  • An occupational therapist
  • A pediatric neurologist
As well as helping the child, parents need support too and thankfully there are many organizations around the world that are available to help those families and communities who are living with Downs syndrome whether as a patient, a family member or a school community.
Because Downs is a genetically based disorder, screening tests are available to parents during the first half of pregnancy to help confirm if their baby has Downs or not. Although the rate of Downs syndrome births rises as a woman ages - at 35 the risk is 1 in 400, but by the time the women is over the age of 45 the rate has risen to 1 in 35 - however, most children with Down syndrome are actually born to women under age 35, mainly because younger women have far more babies. Tests for Downs would generally include an Ultrasound and some blood tests looking at certain hormone levels - but the results of these combined tests are not 100% accurate and they do have a certain level of false positive results. The screening tests, by design, are much better at identifying women who may be at risk of having a baby with Down syndrome, rather than women who actually have a baby with Down syndrome.
If these combined ultrasound and blood tests suggest Downs is present, then confirmation requires that genetic material be gained from the infant in the womb and this necessitates a more invasive type of testing such as Amniocentesis, or Chorionic Villus Sampling. Research continues to seek a test that is accurate and non invasive.
There are often no easy options when Downs syndrome is diagnosed, but the paradox is that even though life can be pretty tough for all concerned, there are always so many great memories and so much laughter. And when that child’s life is cut short, as it sometimes is, then there is just as much an empty space left in the families’s and their communities hearts, as there is when any so called normal child dies too.
We still have so much to learn about Downs, and yet those with Downs teach us so much about how to be better people. We need them to become more human, and they need us to care for them - it’s not a bad arrangement really.

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1 comment:

Mariodacatsmom said...

Very interesting post. I worked in the Special Ed department of a local school district once upon a time! Downs children are extra special and usually very loving. The right kind of education and help can do wonders for them.