The Near-Saint Who Discovered the Extra Chromosome in Down Syndrome

who discovered down syndrome

My two younger brothers both like to read books and watch movies. One is more focused on sports and can spend hours playing baseball, while the other is drawn to music and takes drum lessons. They make their own breakfast and empty the dishwasher. They love their four siblings, but do not hesitate to argue with us, and voice their opinions.

While they have distinctive personalities and interests, both brothers share the similarity of having Down syndrome.

A Discovery in Down Syndrome

October is National Down Syndrome Awareness Month according to the National Association for Down Syndrome. For Catholics, this year’s celebration took on especial importance as Jerome Lejeune, the physician and geneticist who first concluded that Down syndrome is caused by an extra chromosome on pair 21, took steps toward sainthood in January.

Following his discovery in 1958, Lejeune dedicated his career to improving the quality of life for people with Down syndrome and their families. He pioneered a clinic in Paris that focused on treating children with Down syndrome, and supported people from around the globe.

A devout Catholic and pro-life advocate, Pope Paul VI appointed Lejeune to the Pontifical Academy of Sciences in 1974, and he became the first president of the Pontifical Academy for Life founded by Pope John Paul II in 1994.

Lejeune died on April 3, 1994 and the cause for beatification and canonization was opened in Paris in 2007. In January 2021, Pope Francis advanced his cause for sainthood and Lejeune is now considered venerable.

Dedicated to Defending Dignity

Lejeune’s research brought astounding advances to the scientific understanding of Down syndrome, but also created issues for his pro-life ideology. Now that there was a known genetic cause for Down syndrome, the research could be used to identify unborn children with Down syndrome and lead to their abortions.

To address the ramifications of his research once pro-abortion laws began to surface, Lejeune spoke at conferences around the world defending the right to life for children with Down syndrome. Through his advocacy and care for patients, Lejeune strove to improve the quality of life for people with Down syndrome and change society’s negative perceptions of disability.

Lejeune’s work remains necessary today. The number of people living with Down Syndrome has decreased in many countries, coinciding with a rise in prenatal genetic testing. A 2015 study in the American Journal of Medical Genetics estimated that the birth rate of children with Down syndrome were reduced by 30% as a consequence of Down syndrome-related elective abortion in 2007.

Supporting Parents and Providing Resources

Abortions resulting from prenatal genetic testing bring to light the crisis of misconceptions that the world maintains about people with Down syndrome. Disability-elective abortions may result from parents believing that a diagnosis of Down syndrome presents a burden, that constant distress and hardship will muddle both their lives and their children’s.

Future parents need to understand that people with Down syndrome experience full ranges of human emotion, have the capacity to contribute to society, and find meaning in careers, relationships, and faith. I see my brothers internalize Jesus’ friendship through personal prayer and the Sacraments. As Pablo Pineda—the first man with Down syndrome to earn a university degree in Europe—said:

I always say I am Pablo Pineda and that I have Down's syndrome. There is a big difference between 'having' and 'being.' 'Being' can crush you down and 'having' shows it is only one feature.

The Ears to Hear

Lejeune’s story exemplifies compassionate servant leadership by placing God at the center of all aspects of life, including career. Lejeune understood that fighting against abortion was not enough to promote high quality of life for people with Down syndrome. He remained present to his patients’ life experiences in order to ensure their personal well-being and success.

This year, we can follow Lejeune’s example by listening to people about their experiences so that their stories can triumph over misconceptions about Down syndrome:

“Seriously, I have a great life! I have lectured at universities, acted in an award-winning film and an Emmy-winning TV show, and spoken to thousands of young people about the value of inclusion in making America great. I have been to the White House twice—and I didn't have to jump the fence either time.”

// Frank Stephens, actor, Special Olympian and advocate

“We have the same wants and dreams as everyone else. We can do anything anyone else can do. We are more alike than we are different. I can drive, go to college, maintain a job as the Manager of Grassroots Advocacy at the National Down Syndrome Society and be the first registered lobbyist with Down syndrome. We want to date and get married. We want the American Dream, same as anyone else.”

// Anonymous woman, National Down Syndrome Society

"My family always told me I was like anybody else—I just had an extra chromosome. Sometimes it took me longer to learn, but I did it."

// Isabella Springmuhl Tejada, first fashion designer with Down syndrome to have her work showcased at London Fashion Week, owner of fashion line Down To Xjabelle

“A long time ago when I was very little, I dreamed about being on stage. Some people told me I would never be able to do it, so I only paid attention to those who told me that I could.”

// Lauren Potter, actress

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Grace Spiewak is a librarian and writer living outside of Chicago. Her work has appeared in publications including America Magazine, Busted Halo, and Ancient World Magazine. When she isn’t writing about Latin, history, and faith, Grace enjoys biking along Lake Michigan, reading, and practicing her golf swing.