Saintly scientists: Hate the disease, love the diseased

The Frenchman who discovered trisomy 21 was heroically professional when he insisted it could be cured.

Is there any field of medical science trendier than genetics? Stem cell research might cap it, but genetics is far better established and has plenty of runs on the board. Both, given their practitioners' propensity to test the ethical limits of medicine, seem unlikely fields in which a person might earn a reputation for sanctity. Yet, that is what the late Jerome Lejeune did in the course of his career as one of the fathers of modern genetics. In 2004, ten years after his premature death from cancer, and in response to popular demand, the Vatican called for the process which could see the French doctor declared a saint to be opened. Earlier this month, Paris Archbishop Andre Vingt-Trois launched the process for his beatification.

Lejeune's scientific and spiritual fame centres on his 40-year commitment to finding a cure for Down's syndrome (for pedantic reasons now known as "Down syndrome" in North America and elsewhere). At the very beginning of his medical career in the 1950s he found himself drawn to the young, mentally handicapped children, so often segregated in institutions and denied treatment which could have relieved associated health problems. He also felt deeply for the parents who learned that they had given birth to a "Mongol" child ("Mongolian idiocy" was the cruel technical term for the condition) and who fell under suspicion of breeding racial degeneracy. In earlier decades Down's sufferers had been targets of the eugenics movement.

Fellow feeling for these innocent outcasts turned the young Parisian doctor into a research scientist, his mind and heart set on solving the mystery of their condition and relieving their suffering. He would not accept that his profession could turn its back on one whole group of people. Already some scientists speculated that Down's was caused by a fault in the chromosomes. Following this lead and using the new technique of karyotyping he discovered, in 1958, that a patient with Down's had an extra chromosome at the 21st pair. The genetic diagnosis known as Trisomy 21 was born, establishing the first ever link between mental disability and a chromosome disorder -- and heralding a new era in genetics.

It was a discovery of incalculable importance to people with the condition and their families -- if only at first from a symbolic point of view. The embarrassing and misleading term "mongolism" was gradually retired (although it still crops up) and the term Down's adopted after John Langdon Down who first described the syndrome.

But Lejeune's contribution went beyond the scientific into the realm of what we might call "public relations" as he sought to open people's eyes to the human dignity of those affected by the syndrome and their claim on our love and effort. With his trademark combination of precise observation, moral insight and poetry he once wrote:

"With their slightly slanting eyes, their little nose in a round face and their unfinished features, trisomic children are more child-like than other children. All children have short hands and short fingers; theirs are shorter. Their entire anatomy is more rounded, without any asperities or stiffness. Their ligaments, their muscles, are so supple that it adds a tender languor to their way of being. And this sweetness extends to their character: they are communicative and affectionate, they have a special charm which is easier to cherish than to describe. This is not to say that Trisomy 21 is a desirable condition. It is an implacable disease which deprives the child of that most precious gift handed down to us through genetic heredity: the full power of rational thought. This combination of a tragic chromosomic error and a naturally endearing nature, immediately shows what medicine is all about: hatred of disease and love of the diseased."

For that testimony alone, one feels, he should be canonised.

Indeed, he is as likely to be recognised by the Church as much for his verbal defence of the human being -- in whatever condition -- as for his scientific work, since the one quickly became as necessary as the other. As he and colleagues turned his surgery at the Necker Hospital for Sick Children (Paris) into one of the largest cytogenetics centres in the world, studying more than 30,000 chromosomic cases and treating more than 9000 patients with genetically-linked intellectual disabilities, the medical profession became involved in a great betrayal, using the new science for prenatal diagnosis leading to abortion. By the 1990s as many as 90 per cent of Down's syndrome babies in Britain were deliberately aborted. Since 2003 every pregnant woman in Britain is offered a screening test whose main purpose is to make abortion possible.

This trend was a source of tremendous anguish for Lejeune and drove him to defend his patients publicly from what he called "chromosomic racism". This put him in demand as a speaker and expert witness for the pro-life movement -- adding to his already enormous workload of teaching, research and clinical work -- but led to his being ostracised by many of his peers. "Medicine has become mad," he said, "when it attacks the patient instead of fighting the disease. We must be on the patient's side, always." Fighting on two fronts his life must have become a kind of martyrdom -- albeit one marked by joy and good humour -- shared by his staunch wife and five children.

(In her biography of her father, La Vie est un Bonheur (Life is a Blessing) Clara Lejeune Gaymard recounts how every summer when the children were young Lejeune would pack the family into the car and drive them to Denmark -- where his wife's family lived -- for a long holiday. Then he would drive back to the heat of Paris to do research which he had no time for while teaching.)

Lejeune was convinced that a cure for Down's syndrome was possible and that it would open the way to a cure for all the other genetic diseases. "It is obvious that we'll find a way," he said. "The intellectual effort is much simpler than putting a man on the moon." And, "The patients are waiting for me, I have to find the answer." However, although he laboured to the last weeks of his life -- exploring the use of folate therapy, for example -- he died in April 1994 without achieving his mission, and feeling that he was "abandoning them".

Jerome Lejeune received many awards and honours during his life -- including warm recognition within the Catholic Church and in particular from Pope John Paul II, who was a personal friend -- but he would have traded them all, no doubt, for support from his profession for his great mission of finding a cure for genetic diseases. Even today the Paris-based Jerome Lejeune Foundation struggles to awaken greater interest in research on Trisomy 21.

It would console the saintly scientist, however, that there seems to be a sort of grassroots rebellion brewing against the culture of death that has stifled the lives of countless thousands of Down's babies prenatally. Articulate middle class parents, who tend to have their children later and to that extent run a greater risk of Down's, have been speaking up in the media about their disabled children. A fine example appeared in the London Times last year, a testimony by the paper's chief sports writer to the joy he has had from his second son, who has Down's.

The writer, Simon Barnes, is at pains to make it clear he is "not a saint", just a dad who enjoys life and takes it as it comes -- including in the form of an intellectually impaired son, whom he has found it quite natural to love. While respecting his sensibilities about "sainthood" one should perhaps warn him that sanctity could still sneak up on him. After all, Jerome Lejeune did no more than love the children in front of him in a perfectly natural way -- as a man, a father and a professional.

There is much more to say about the geneticist who could be a saint. But this much can be said with confidence: that his profession was never in greater need of the ideals he represents and a model for living them than it is now.

Carolyn Moynihan is Deputy Editor of MercatorNet.