OTTAWA (CCN) — French scientist Jerome Lejeune, who discovered Trisomy 21, the cause of Down syndrome, continues to inspire physicians through his integration of love, truth, science and faith.
At a panel discussion Jan. 29 at the University of Ottawa medical school accompanying an exhibit on Lejeune’s contribution as a father of modern genetics, Dr. Mark Basik of McGill University said Lejeune’s example guides his work researching the genetic causes of metastatic breast cancer.
“He inspires me in so many ways,” Basik said, especially the way Lejeune’s research was “driven by the love of his patients.”
Born in France in 1926, Lejeune had originally trained to become a country doctor, then a surgeon, but fell asleep on the Paris Metro and missed his surgical exam, Basik said. That ended his surgical career plans, so the young doctor went to work with a pediatrician who worked with Down syndrome patients.
At the time, no one knew the cause, Basik said. Some suspected it was the result of a sexually transmitted disease like syphilis; others thought it represented racial evolution. People with Down syndrome faced “tremendous discrimination.”
In the 1950s, scientists were able to count chromosomes or packages of genes, determining that each human being had 46 chromosomes in 23 pairs. Lejeune began to look at the chromosomes of Down syndrome patients and discovered an extra piece of genetic material in the 21st chromosome, hence the name Trisomy 21.
Basik said Lejeune travelled to Montreal with a photograph of his discovery and showed it to other scientists. He went on to San Francisco and did the same thing. “He was not afraid of being scooped,” Basik said. “He just wanted to spread the news.” His motivation was to find a cure, and do something to help his patients.
A consequence of his discovery was the restoration of dignity to Down syndrome patients, he said. It also opened up a whole new medical field of study into genetic causes of other diseases.
Basik compared having that tiny extra piece of chromosome to having one additional musician in an orchestra who is “playing faster or slower than everyone else.” It would cause cacophony, he said. Lejeune understood the complexity of the human organism and how all the various processes worked together.
Lejeune’s skill as a researcher and scientists was “intrinsically related to his faith,” because as a Catholic he believed the universe was created by a rational God who created humankind to have reason. That gave him “a reasonable hope we can understand the laws of the universe,” Basik said.
The discovery of Trisomy 21 led, however, to prenatal diagnostic tests leading to the widespread abortion of Down syndrome babies, Basik said. Lejeune insisted on the humanity of his patients. When the first test tube baby, Louise Brown, was born, Lejeune saw this as scientific proof that human life begins at fertilization. For him, science always demonstrated the truth, and his support for human life at conception was based on science, not on his Catholic faith.
Humility and compassion were the guiding rules of his life, as he looked for answers in science, Basik said.
Lejeune had 5,000 Down syndrome patients and he knew them each by name, Basik said. One couple described going to an appointment with their son. Lejeune sat their son on his lap, asked him questions and treated him with such love that the couple said afterward, “He made us discover the love of parents.”
As the debate on abortion was raging in France one of his 10-year-old patients came crying to him, “They want to kill us!”
“He decided to defend them, but there was a price to be paid,” Basik said. Lejeune was ignored, ostracized by the medical, academic and political elite in France. He lost research funding and faced harassment. While he acknowledged the price individual families and patients paid for living with Trisomy 21, he said, “. . . it is the price society has to pay to remain fully human.”
On the panel, family physician Dr. Lise Poirier-Groulx shared her personal journey as a mother of a now 15-year-old boy with Down syndrome. She described how uncomfortable she used to be around people with severe disabilities, but now she has become an advocate for them as she deals with the grief-stricken parents mourning the loss of the child they had expected.
Poirier-Groulx’s son was born with serious heart abnormalities that required several surgeries in his first year of life. She recalled experiencing “fear of losing him if he died and of the bleak, uncertain future if he lives.” During the first year of his life, she and her family felt very isolated and broken.
But she remembers falling in love with her son when he was put in her arms. “Nothing prepared me for this determined baby boy who fought so hard for his life,” she said. He struggled to nurse, having to stop frequently to catch his breath and sweating from the effort. She came to realize she was witnessing a love story.
“The overwhelming majority of people with Down syndrome regret their affliction but they do not regret being themselves and being alive,” she said. Her son is “truly happy with his parents and his siblings,” she said.
“It’s not about who is disabled but when we become disabled,” Poirier-Groulx said. “Unless we exit this life suddenly, we all will become disabled at some point.”
Dr. Emanuela Ferretti, University of Ottawa neonatologist who moderated the panel, recalled attending a lecture Lejeune gave in her native Italy. She had never heard of him at the time, but became struck by how deeply he communicated with the 3,500 people present. Then realized she was surrounded by hundreds of people affected by Trisomy 21, “all listening to him in silence.” Ferretti said Lejeune “was like a father to them.”
The exhibit on Lejeune is about a man who displayed immense humanity through his knowledge and choices, maintaining allegiance to faith and conscience despite adversities and challenges. Lejeune showed the “only trend that lasts is the love for truth,” and that “medicine is a caring profession that uses knowledge to serve the patient and not the disease,” Ferretti said.
The Lejeune exhibit first ran in Montreal before coming to Ottawa from Jan. 29-31. It is now off to the United States. The dozens of panels illustrating Lejeune’s life and discoveries came together through the co-ordination of cancer research scientist Ombretta Salvucci who now works near Washington, D.C.
Salvucci told CCN that several years ago she was undergoing a crisis related to her work as a cancer research scientist and recalled that Communion and Liberation founder Rev. Luigi Guissani had advised people to ask a saint of modern time closely connected to their work to intercede.
Salvucci thought that it was impossible, that there are no scientists who are saints! Then one day reading the Zenit news service she came across a story about the opening of the cause of sainthood for Lejeune. She found out that Pope John Paul II visited Lejeune’s grave in 1987 during World Youth Day that year.
“This is my friend who is going to help me,” Salvucci said. She placed a picture of Lejeune near her computer and began to dialogue with him. “Give me some results!” she said. She asked especially for courage. A year later, everything regarding her crisis had changed and she decided she wanted to thank Lejeune for his prayers for her by creating an exhibit.
She found there was little or no information about Lejeune available on the Internet, so she contacted some of her friends in Paris where she had studied for her doctorate. They connected with Lejeune’s wife and daughter who have since become friends with Salvucci.
Organizers of the panel discussion passed out prayer cards for the Servant of God Jerome Lejeune, asking those who have obtained favours through his intercession to write to the cause for his beatification and canonization in France.