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?