21 March 2013. It’s World Down Syndrome Day, for just the second time, since the date was established by the United Nations last year. A day to mark and celebrate the life of people with a syndrome called “Down” after the British doctor who described the condition in 1866.
Some say it’s a shame his name was Down, and maybe it should be called “Up Syndrome”. When my sister Rita, who has DS, was a baby, our family home was full of music and laughter, and most families will attest to the affection and joy these children bring to their parents and brothers and sisters.
In the United States, the newsletter of the Down Syndrome Association is called “Upbeat” and its slogan reads “We are more alike than different”. Written by and for people with DS, the editor is Chris Burke who is also a TV actor. He says, “It’s not our disabilities that count, but our abilities.”
To try and explode the myths and fears that surround this condition, an advertising campaign will mark the Day in many different countries and languages. Beginning in France last year with huge billboards showing a photo of a baby or child with DS, and the caption “Trisomique… et alors?”
This year the same campaign will say “Sindrome de Down… y qué?” in Spain; “Down syndrome… so what ?” in the United States; “Sindrome di Down… e allora ?” in Italy; and the same phrase in Germany, Poland, Portugal, Croatia, Great Britain, Lithuania, Russia and New Zealand.
Everyone is encouraged to celebrate the day by wearing stripey coloured socks! The campaign is called “Lots of Socks”. “We want you to wear bright coloured socks, funny socks, different socks for each foot, or even three socks for the extra chromosome,” explain the organisers on their website.
“That way, people will ask why are you wearing these socks and you have the chance to explain about World Down Syndrome Day.”
The idea is to give correct information, to change the negative image that surrounds this condition.
For example, one myth is that people with DS do not live very long. “In fact, today people with DS can look forward to a long life given the right medical attention”.
Educational goals are also open to people with Down syndrome. “With the right support, these children can learn to read and write and attend mainstream schools, and finally live semi-independent lives”.
When my sister was about five years old, well-meaning experts told my parents not to expect her to read or write. My mother did not listen to this advice and taught Rita to read. She loved reading so much that she would carry a pile of books around with her all day and sleep with them under her pillow at night !
Only since 1959 have we understood why this syndrome exists. The French pediatrician, Professor Jérôme Lejeune identified the extra chromosome on the 21st pair, giving it the name trisomy.
(And that’s why the United Nations chose the date, 21 March).
His discovery gave new hope and dignity to parents who had often hidden their children from public view because of myths about the cause of the condition. Professor Lejeune set out with determination to find a cure or amelioration of the condition, but he was heartbroken to see this genetic knowledge used in order to identify and abort children before birth.
Today, in France 96 percent of babies identified with Down syndrome are aborted. Six months ago, a German laboratory, LifeCodexx, began selling a new test which can identify the condition very early in pregnancy. It is already permitted for use in Germany, Switzerland, Austria and Liechtenstein.
The risk is very great, as public health funds are used to eradicate the children, rather than to find a cure for the condition or to care for the children born with Down syndrome. The national College of Obstetricians and Gynaecologists in France has already voted in favour of the new test.
After the death of Professor Lejeune in 1994, a foundation was created to continue his work. They have launched the “Trisomique… et alors?” program, in collaboration with The Friends of Eleanor, a group created by the family and friends of a young girl with DS who has a job in Paris and lives in a normal flat, and speaks publicly to show the reality of her life.
In Croatia, a dynamic group have taken up the battle, and will receive the Prime Minister and the Minister of Health at their centre in Pula. “We have also invited the French Ambassador”, says Dr Branka Butorac.
“We work to defend the human rights of people with Down syndrome. They are people just like you and me: they have the same needs, the same aspirations, the same dreams.”
A final irony : at the same time as a test is coming on the market to eliminate children with Down syndrome, other researchers have realised that these children are not subject to certain common types of cancer. Studies are already underway to identify the genes, called “tumour-suppressor genes” which protect a cell from one step on the path to cancer.
These studies, supported financially by the Jérôme Lejeune Foundation, are being carried out at the prestigious University Medical School in Montpellier in the south of France. A second pilot study is also underway in Lebanon, giving the possibility to study a population with a different lifestyle and diet.
The very children whose lives are so much at risk because of public policies to prevent their birth, may help us to find the elusive cure to cancer.
So, it’s time to search in your sock drawer! The more colours on your feet the better !
Mary O’Neill Le Rumeur writes from France.