3 * 21 – But Where Are They?

Today, 21st of March, is World Down Syndrome Day, a day that:

aims to promote awareness and understanding of Down syndrome and related issues: and to mobilise support and recognition of the dignity, rights and well being of persons with Down syndrome.

3 * 21. 3 of chromosome 21. Who ever thought of using this date was quite clever. And it is only right to raise awareness of what is Down Syndrome, or Trisomy 21. To demystify it, to put forward facts, to show that people with DS are just that before anything else: people.



But then, why are they so invisible?

Last January I was prompted about a series of 3 programmes on the UK Channel 4 that stepped outside the norm: “How to look good naked – with a difference”.

Now, I am not much of a fan of Gok Wan: though I like his ideas, I find them simple and quite interesting, the man simply annoys me tremendously. For some reason he gets on my nerves, and until that particular series came on I had never been able to watch a full programme.

In this case, I not only stuck it through the first episode, but found myself waiting for the next two. He applied the formula of his tried and tested show “How to look good naked” to a woman in a wheelchair, a woman with a prosthesis leg, and then most interestingly a blind lady. This last episode was obviously a real challenge, for how do you “show” a blind person what she looks like, and not only give her a sense of how people see her, but also of how to present herself? I must say I found the programme very moving, and was almost cheering at the end when the woman walked down the catwalk in full knowledge of her appearance and thoroughly enjoying the applause she was getting.

Apart from the theme of each episode, and the fabulous results in terms of regaining self-esteem that each woman obviously achieved, there was a secondary theme running through: why do High Street shops and brands never show people with disability in their advertising campaigns? The argument put forward was this: it is a fact of life that people with disability exist, that they form part of the customer population. Not showing them is a form of discrimination. So he engaged the help of 2 women in wheelchair to design a poster campaign and prove that a disable person can be a model and represent a brand as much as an able bodied one.

And to be fair to Gok Wan, or the producers of the series, one of the models travelling the catwalk with each of the participants was a stunningly beautiful woman with an amputated arm, in full view. Hence the man does acts on what he preaches.

Following on this he launched a petition destined to high street retailers in the UK to engage disable models in their advertising campaign.

This is interesting of course. Any thing that can move anyone towards inclusion of the “different” is welcome. But the whole emphasis seemed to be on the physical disability. What about the intellectual?


Has anyone seen an advert for any product or service featuring a person with Down Syndrome? Apart from the posters for the Special Olympics, or the current TV campaign for the AIB Better Ireland sponsorships, I personally have never seen any such person in what I would call mainstream advertising.

Why is this? Down Syndrome by the very nature of its manifestation is the most easily recognised form of intellectual disability. So, where are these people? If one in about 750 has DS, shouldn’t they be more visible?

I am not so naïve as to ignore the fact that people being portrayed in any advertising campaign, because they are “the face” of a product or a service, need to look beautiful and healthy. But, as an example, my little prince Cathal is beautiful. And right now he is very healthy. Having Down Syndrome does not negate health. Having Down Syndrome does not negate beauty. In fact I have often been moved by the incredible beauty I have found in some of the photos of people with DS I have had the pleasure of seeing over the last two years. Yet, before this, would I have stopped and looked? Would I have allowed myself the chance to be moved thus? Probably not.

Having said this, I am as guilty as anyone else for keeping DS invisible. Last year there was a campaign launched by Calpol for finding a new face for the product. I fleetingly thought that it might be a good idea to enter Cathal – ok, I am biased, and I am repeating myself, but he is a beautiful child! I even briefly mentioned it to his mammy. At the same time, deep down, I knew that, should he be entered, he would not stand a chance, he would not make the first cut. A glance at his eyes, and the photo would be put on the “NO” pile. There was no point of trying, as who would choose a toddler with DS to represent a product that is supposed to make children feel better? The child on the product packaging needs to show health, happiness, wellness. No one wants to see the face of a “problem” on their product.

Yet, guess what: one person in about 750 has the face of that “problem”. And that person, as much as you or I, is part of our society, part of what it is to be human, and let's not forget: also a consumer...

Happy 3 * 21 Day!

Missing Something

For a long time, it was thought that people with DS were “missing something”. During the 1950’s, a young newly qualified French doctor joined a small team of researchers in Paris; some of the team were working in a brand new field: Genetics. This young man, Jérôme Lejeune, was given by his direct superior the task of examining in greater details the catalogue of traits that the English physician John Langdon Down had drawn up some 90 years previously, and that were found in people who are suffering from what was then termed Mongolism. As Jérôme Lejeune met young patient after young patient, the parents often referred to their children as “being unfinished”.

Because he was rubbing shoulders with the field of genetics, Lejeune decided to go further than his original brief, and to examine blood cells belonging to his patients, as far as the chromosome level. On the first photograph he looked at, he counted these chromosomes, thinking one could be missing: he found 47, one extra. He repeated his count, got his assistant to check, got his colleagues to check as well. Then he repeated what was then a very tedious and tricky process on samples from 5 other patients (remember, this was the late 1950’s, no digital enhancement and manipulation here, just photographs coloured with various chemical dies): no doubt, 47 chromosomes, the extra one always belonging to one of the smallest pair, no. 21.

People with Mongolism did not have something missing, they had something extra!

The first announcement of this discovery was made to the French Science Academy on the 26th January 1959. Following a storm of protest and doubts expressed by the Academia and Scientists worldwide, a second announcement, complete with methodology and proofs, was made to the Paris Academy of Medicine on the 16th March 1959. The samples were now in double digits, no doubt was possible.

I have read all of these facts in an interesting book, Lejeune’s official biography published in 2004 and reprinted at the end of 2008: “Jérôme Lejeune” by Anne Bernet (given to me by the Frenchies last Christmas). Unfortunately, I have not been able to find any reference to an English translation of this book. But if I do, I’ll put in on this blog.

Research is ongoing. Fifty years later (a short time, and yet such a long time) we now know that only a very small section of the extra chromosome in pair 21 actually produce the effects present in people with DS. It is so heart warming to know the work is continuing. Because of it, Cathal has now the chance of a great and long life, which he might not have had fifty years ago.

I am not finished reading this book – I am (im)famous for reading 2, 3 or even 4 books at the same time, depending on my mood and level of intellectual tiredness on the day or the evening. But what has struck me so far was one particular quote from Lejeune’s diary just before the official announcement of his discovery: “To allow a Mongol become capable of being appointed Professor at the Paris Faculty of Medicine! This is the dream of my life.” Right from the start, his motivation was finding a cure for what eventually became officially know as Trisomy 21, or more commonly Down Syndrome. And he saw the identification of the “cause” as only a first step towards the “cure”.


This brings me to a train of thoughts that has been nagging at me for a while. I am now wondering if I am the one who is missing something…? I like to understand things, I do not necessary take facts for granted, my instinct is to go beyond them and “understand”. I must get this from my parents, because they did their own little research into DS and contacted me a few months ago to tell me that researchers were working on a “cure” for DS… Sorry? Say that again? Yes, they are, here is an article published in the French media, about the work the Fondation Lejeune is doing. Check it out.

So I did, found the foundation on the net, and read all about their work. And yes, research is ongoing. In a country that seems to be proud of this discovery, this foundation is working on it’s own, does not seems to be receiving any public or state founding, but rather relies on private donations to continue it’s founder’s work in research relating to the genetic causes of such conditions as Trisomy 21 and others where the main effects are intellectual disabilities. They also have several projects in very poor communities around the world where they provide basic care and support for special needs children, the type of care and support we take almost for granted in our rich western society.

However, one thing I find hard to understand is what they call “maladies génétiques de l’intelligence” or intellectual genetic illnesses or diseases. On the foundation’s website, on the page relating to “Curing Trisomy 21” it is explains that “speaking of intellectual genetic illness (or disease) is the first step to combat the concept of fatality that is associated with the word handicap. The term “handicap” implies something frozen, unmovable, where as an illness (or disease) is an evolutionary state, that can be treated and in some cases cured. To speak of illness (or disease) is to recognise that it is possible to do something in terms of therapeutic research. Despite its complexity and seriousness, Trisomy 21 can be considered an illness (or disease) as one hopes one day to improve on the intellectual deficiencies”.

Hmmm…

(Please note, this is my translation, nothing official. Despite a choice of language on the home page of the website, this refers only to menus, and all the texts are in French. And to widen the understanding I am using both English words illness and disease where there is only one in French: “maladie”.)

My problem is this: Is not an illness, or a disease, something that is “acquired”? A cold, the flue, cancer, pneumonia, are all acquired. I would even agree that a genetic disorder that is transmitted by either parent is “acquired”. But, as I understand it, Trisomy 21, or Down Syndrome, is not acquired: it happens that a chromosome does not separate from its twin in either sperm or egg, and passes through the fertilisation process. It happens. And through out the world population, irrespective of race, class, health, wealth. It happens.

Of course research may eventually discover why it happens. In the mean time, I am just wondering if I am missing something in the translation. Or if I am simply “missing something”… I have discussed this at length with the Frenchies, and they did agree with my point of view and my understanding of the word “maladie”.

I have no medical background. I am no expert. I simply want to understand: is it possible to find a “cure” for something that “happens”? Isn’t it misleading to use the terms illness (or disease) and cure for DS? Is it misleading to raise hope so high?