16 February 2009

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”.


(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?


Anonymous said...

Dr. Lejeune's daughter wrote an excellent book about her father, "Life is a Blessing" it is available on Amazon. com, I would recommend reading it for Dr. Lejeune was an amazing individual.

Jeffrey Goble said...

As a twenty year old, I was completely baffled (and bored) by my psychology professor's lectures on meaning and metaphor. Emma's existence has focused those memories sharply. It is my understanding that DS is a "syndrome" for the reasons that you describe, however, the recent advances in gene therapy could very well move some of the symptomology (apologies if that's not really a word) of DS into the realm of 'illness' - they could actually be ameliorated - that's the best word I can apply at the moment. All that's to say that I think that hope is warranted. Would that trisomy 21 become a characteristic without stigma.
I fear that we will always struggle with language, metaphor, and meaning - it's a characteristic of being Human.

Mel said...

I am heartened to read that research is ongoing into finding a 'cure'. It is so much better than the other option, which society often sees as the answer. I have always wanted and loved Luke, and after the diagnosis felt that the extra chromosome was changing who he is- blighting his possibilities in a way. I am moving through that, but in all truthfulness I would give up everything I own to 'cure' him. I am glad there is hope, but I hope no-one is leaving their therapies and waiting- I don't think it will happen in my lifetime.

I take my lead from the lovely Luke, who is happy to be alive and happy to be him. Who says his life will be harder than that of my other children? In some ways he may find life simpler and easier than they do, as he approaches things from a simpler, less materialistic view-point perhaps.

Thank you for this post Nan P and grosses bises to Cathal XX

jazzygal said...

A very thought provoking post Nan P. Well researched and well written.

I've always hated the term "Mongolism" and "handicap". What struck me was changing the mindset from handicap to one of maladie or illness....to get across the concept of a treatable condition? I use the word "condition" for Autism....or Downs. I prefer to say the child has Autism or the child has DS rather than say the Autistic child etc. I like to make that distinction....separate the person from the condition.

So, are these conditions acquired or not...as you say? Good question. Autism possibly so, as it's a bit genetic and a bit environmental. I take your point on DS. But I do think the important thing is changing from "handicap".

You are so right to warn about false hope. It is good to have hope and it is right that research continues. A lot of "research" in the Autism field led people down mad paths looking for cures. Stick to interventions that are working but never give up hope. xxx Jazzy

PS>>>Sorry, rushed comment....have to get Snugs to bed!!

Clive said...

Excellently put - a lot to think about there.

Lisa said...

Analysing language and meaning lead Martin Luther to the reformation Nan - are you fully prepared?

Yet again I find us auties can learn from you Downs parents and grandparents. The idea of a neurological condition caused by genetics or: Apple meet tree as I like to call it, and the idea of curing a disease.

If as I interpret it, lejeune (the youth?) wanted someone with Downs to be a professor, then I guess he was looking at the reducing the effects or symptoms of downs as it manifests in terms of intellectual or learning disabilities. I imagine that it would link in with reducing the health and medical disabilities and extending life span, so that's all good.
Would that were possible, but I think that it would mean changing the existing genetic material that each human being is made of. And that goes for the so called neurology of autism too. I say so-called because while many of the cure-alls and quackerfessors choose to ignore it, Autism actually affects people on a physical level too. There is the over and under physical sensitivities, the low muscle tone, poor co-ordination and body awareness in space. A whole gambit that has nothing to do with mercury or a leaky gut.

Imagine a house, what lejeune proposes is to somehow re formulate the very bricks and mortar that build that house, how is that even possible while maintaining the existing house.

Instead, what is possible is how you support the bricks and mortar, how you can re-wire the electrics or re-tune components like the heating and boiler .(pertinent to me at the mo!)
But the house is still the house.

AS you say, our kids have something extra, for you its an extra chromosone, for us its extra sensitivity and a whole load of extra wiring that they cant quite make sense of at first.

May we all continue to explore the possibilities and strive to be professors. And accept what we have. All of it including the extras.