26 February 2009

It’s Contagious!

A few days ago, I came across the quote below on the net. When I first starting to read, I though it was one of those sick “jokes” about DS, or another piece of tripe written by people who have negative opinions on everything they fear and yet know nothing about.

But I kept reading… I leave it to you all to judge for yourselves...

Down syndrome is a genetic disorder characterized by a triplication of the genetic material on the 21st chromosome. This trisomy occurs with the first division of the developing zygote, as a result there is extra genetic material present in every cell of the individual.

Recently, science has discovered that this cellular abnormality is highly contagious.

As a result, family members (and even friends) of individuals with Down syndrome often find themselves exhibiting dramatic changes due to this "something extra" permeating their bodies at the cellular level.

These changes manifest themselves in a number of ways. Something extra in the visual cortex results in parents who view the world differently.

In addition to seeing things in an entirely new light, these parents also report having an increased ability to focus on what is important.

Spontaneous appearance of tears of joy have also been confirmed. The section of the brain used in logical thought undergoes dramatic changes.

Parents suddenly find themselves able to comprehend and discuss complex medical procedures. The ability to decipher long strings of acronyms appears almost immediately and it is not uncommon for affected parents of newborns to be able to differentiate between ASD,VSD and PDA. Familiarity with G-tubes, Pic lines and the NICU is another side effect.

Over time, the entire nervous system is transformed, enabling parents to perform tasks previously thought impossible. These changes result in individuals finding the nerve to advocate before large crowds, speak to classrooms of medical students and educate the population at large about issues they are passionate about. These changes are closely tied in to dysfunctions in the verbal abilities, which makes it virtually impossible for parents to bite their tongue. Often, individuals who previously considered themselves reserved will find themselves outspoken and effective communicators.

The pulmonary system is altered to a dramatic extent. Parents report having their breath taken away at the slightest prompting. The cardiovascular system develops similar vulnerabilities and reports of hearts pounding loudly and swelling unexpectedly are not uncommon.

One mother reported that her heart skipped a beat when her son smiled at her for the first time.

The extremities are also altered. Arms reach out to strangers for support, and in turn, hands comfort and nurture those in need. Legs strengthen and balance improves, allowing parents to stand firm in their convictions and walk without faltering, even when shouldering a heavy load.

Scientists are baffled by the widespread scope of these symptoms. Equally perplexing is the response of those afflicted. Parents readily acknowledge fundamental changes in their being, however, almost universally declare a preference for their new, altered level of functioning. "I wouldn't change a thing" is a common refrain.

Apparently, the presence of a little "something extra" enhances the lives of individuals fortunate enough to be infected.

Originally written by Wendy Holden (the British journalist…? I am not sure!)


22 February 2009

Forget the Words

My last post might have been a clue: I like words. I like pondering their true and assumed meanings, tossing around the various concepts they may carry. Though I usually prefer using simple words, I love exploring the etymology of words I come across in my diversified readings. I also enjoy examining the syntax of phrases I encounter, playing with various interpretations, weighing the context in which the are used.

I would imagine that my twisty life training has contributed to this love of language. The most formative years of my life, teens and young adulthood, were spend studying French literature, linguistics, philosophy, Latin (good old Cicero was scrutinised for hours), ancient Greek (yes, I am talking of the Iliad and the Odyssey, years before I ever heard of James Joyce’s Dublin version of the adventures of Ulysses, of the sage Plato, and of these masters of classic theatre: Aristophanes and Sophocles). Unfortunately, as I did not keep up these two ancient no-longer spoken tongues, I would be incapable now of deciphering any text. Pity, considering the endless hours I spend thumbing my door-step sized dictionaries! And can you imagine a seventeen year old spending a total of eight hours a week, yes, eight full hours, listening to a teacher exploring the minds of the Great Thinkers? I remember producing some memorable essays on existentialism, and wish I could read them now, to see how far I have travelled since!

Then I turned my attention to the world of Business, Marketing, Supply Chain. Very different, clear, crisp meanings, with little ambiguity. I now spend my “productive” days drawing documents with legal weight, where all interpretations must be considered and ruled out until only one remains, the one “we” want.

But it is not all about words. My work also includes talking at length, trying to understand what others want, what they mean, and what they do not want me to ask them; trying also to reassure them, to convince them, to reel them in. And there the choice of words used, those I hear and those I speak, is important of course, but not nearly as the tone of voice, the unspoken, the body-language, the facial hints, the darting eyes, the unsettled fingers twisting a pen, the emotions almost visible below the surface of the conversation. I have learnt over time to use my tamed yet very real fiery temperament to emphasis points and drive ideas home. I have learnt over time to use my naturally numerous hand gestures (I “speak” with my hands) to underscore and strengthen my message. Words are a part of any communication process, but often only a very small part.

Why this meandering? I was privileged earlier this week to be given a demonstration in communications by my youngest teacher. In three chapters:

Chapter One. Picture this: early in the week, just after 7 o’clock in the morning of the night before, when I babysat Cathal and stayed overnight to cut on the commuting home late at night and back in the city before dawn. I, sitting on the sofa, wrapped around a cup of strong, steaming, freshly brewed black coffee, definitely not awake. The Mammy, sitting on the same sofa, similar cup in hand, beady sleepy eyes. And Cathal between us, chatting away, full of the joys of life after a night’s sleep. I get up, pull on my jacket, gather my bags, car keys, turn to the pair of them and wave, saying “bye, see you Friday”. And there it happened, and for the first time directed at someone else than the Dad (until then, he had been the only recipient): Cathal’s little hand shooting up, palm turned towards me, the little fist opening and closing rhythmically, while a big happy smile lights up his face. No words needed here. I melted, and fought hard to leave.

Chapter Two. I arrive in Cathal’s house Friday evening, say the usual hello, talk to him, to the Mammy, give him time to know I am there. After about five minutes I take him on my lap, facing me. I venture a kiss. And then he lunges forward, grabs my cheek on one side (some strength in his pinching!) and my hair on the other, pulls my face towards his, open his month, and glues it on my skin, holding me closer, and closer still… after a few minutes, my whole face - cheeks, nose, chin, eye lids - was covered in baby dribble and we were both smiling! Big melt down in my heart…

Finally Chapter Three. Same Friday evening, some time later, me sitting on the same sofa. Cathal sitting on my knees, facing me. We do the usual “the wheels of the bus…” follow by “row your boat”. He stares at me throughout. Intense concentration. I repeat the “wheels of the bus”, all three verses of it, with all the gestures, tickles, and what nots. Cathal’s part of the play has not changed. Ok so, let’s add. I say, while using the Lamh sign, “again?” and, not waiting, repeat the full song. At the end I wait a while, and then say-sign “again?” And... a little left hand grabs my right one, the signing one, and shakes it, twice. I say and sign “again?” once more. And he shakes it – again! Twice, as the sign. No doubt. So we repeated the song, the gestures, the signing of "again", then the song, the gestures, the joined hand-on-hand signing of "again", on, and on, and on... Cathal was not signing, he was making me sign! And getting his entertainment in the process!

Clever boy!

Forget the words. Indeed, who needs them?

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?

08 February 2009

Art Has No Limit

... And if any one thinks otherwise, show them this hauntingly beautiful film I found while visiting Emma Sage’s blog. I have watched it several times…

A little digging on the net tells me that it is an “award-winning video from Iceland, conceived by and supervised by the musical group, Sigur Ros and the filmmaker, Agust Jacobsson, featuring the Perlan special-needs theatre group acting out a simple but beautiful play about the elements - This unique music video is part of the Sprout Touring Film Festival (showcasing films related to the field of developmental disabilities).”

04 February 2009

Why Don’t You Trust Me?

It is probably fair to say that I have some life experience behind me: over half a century on this earth teaches you a few things. Among others I can mention:

  • Growing up in one country, then adapting to and finally adopting the subtly different ways of another;
  • Going through the varying shades of marriage life, from the very highs to the very lows;
  • Having two beautiful children, and guiding each for twenty odd years, then learning to let them go and fend for themselves;
  • Putting various courses and several academic qualifications under my belt, and moving along a career path with twists and turns that have brought me to touch on many areas.

Yes, I might know a thing or two about life…

Or so I thought.

Until a ten-and-a-half-month old child pipes in and gives me a big lesson in Respect, Trust, and Humility.

Since Cathal was born, I have had to make great efforts not to “get in there” and give his mammy my two pence worth of opinion on what she should or should not be doing. It can be difficult to take a step back and keep quiet when you see how any parent interacts with his or her child; it is especially hard when that parent is your own child. The parenting reflex tries to kick in, and I have found myself calling on my willpower time and again not to say anything.

Do not take me wrong, it is not that I do not trust my daughter. On the contrary, I think that she is incredible, and she has truly surprised me and gone beyond any expectations I might have had of her. She has found a way through motherhood that is working for her, and for Cathal. I have full confidence in her. I am not worried about her. It is just my own mothering instinct re-surfacing every now and again, tugging at me to guide and protect.

Lesson One: When I meet up with Cathal, my first reaction is always to take him in my arms, hug him, kiss him, hold him, and then play with him. But Cathal does not like being held and hugged and kissed as soon as I appear in the room. And why should he? Cathal likes to assess the situation first. I imagine his train of thoughts are:
- Who is she?
- Oh yea, I know! Now, do I want to talk to her? Is she interrupting me? Am I in the mood, or do I prefer to keep doing what I am doing now?
- Granted I agree to interact with her, do I want to be touched? Or hugged? And kissed? In short, am I ready, right now, for this level of intimacy?

If this does not suit Cathal, right then, I must respect him. So Lesson One is: even though Cathal is very young, he has his boundaries, the same as anyone else, and I have to RESPECT them. And if I don’t, the whole house hears of it, believe me!

Lesson Two: I generally do not try and assess “how well” Cathal is doing by comparing him to “other” children. I know it is fruitless and could be the source of unjustified and unproductive worry. Generally speaking this is easy enough to do. Except as far as food is concerned. For some reason, I find it hard not to worry about the fact that Cathal can be what I would call “fussy” about food. Obviously, his mammy’s milk is the best for him, and he thoroughly enjoys this. It is also benefiting him well, as his weight keeps going up and he is steadily growing. BUT, and this is my “but” and no one else’s, my mind keeps wandering if he “shouldn’t” be eating more solids.

I keep going back to his own mammy and his uncle, and how well they took to solids very quickly. I keep thinking back only a few months ago to my youngest nephew, only 8 months older than Cathal, and how at ten months of age he was wolfing down one bowl of dessert after a huge plate of mashed up dinner, twice a day, plus a big cereal breakfast, and a mid afternoon snack of fruit puree with a full yogurt!

From what his mammy has told me, from what I have witnessed, depending on his mood, depending on what is happening around him, Cathal might, or might not, eat a few spoons, or a few more. In short, I have been worried.

Last Saturday, I met a friend for lunch and we chatted for several hours: she is a grandmother, several times over, and one of her grandsons has DS. So we were “swapping stories”. I expressed my concerns about Cathal vs. solid food. No matter what she said, even she could not lift the nagging worry. Then I went straight from this long and late lunch to Cathal’s home. And when teatime came, Cathal sat at the table, and the clever boy, proving my concerns are totally unjustified, demonstrated that he could eat ALL his dinner, and ALL his dessert if he wanted to. I went home thinking that this child had a good laugh at my expense.

Conclusion of Lesson Two: on Saturday, Cathal was telling me:

“Nan, mind your own business, this is my life, my way of doing things, it works for me. So but off, stop worrying, and TRUST ME!”

And this brings me to Lesson Three: Humility.

Through this incident on Saturday, I was reminded, yet again, that I do not know everything. Despite my accumulated life experience, I still have a lot to learn. And Cathal’s extra little chromosome brings me into an aspect of life I accept I know nothing about, where everything is put back in its own perspective, must be considered in its own merit, where the bigger picture is lit from a different angle.

A ten-and-half month old is my new teacher. Who would have thought?