A pioneer advocate for people with Down’s syndrome

Paul Williams recounts the story of Jérôme Lejeune, a pioneer in the understanding of the genetic causes of Down’s syndrome, who also fought for an improvement in the lives of the people themselves.

Jérôme Lejeune was born in France in 1926. He trained as a doctor and began work in a clinic specialising in people with learning difficulties and their families. He carried out a study of twins with Down’s syndrome and became convinced that the cause of the syndrome was genetic. Each cell of the human body contains a nucleus within which genetic material is collected into strands called ‘chromosomes’. When cells are dividing, the strands separate and can be studied under a microscope and photographed. Only in the 1950s was it discovered that humans have 46 chromosomes in each cell. These can be arranged in pairs and numbered according to size. Pair number one is the largest, pair 22 is the smallest, and the remaining two chromosomes are labelled XX or XY and determine gender.

On learning of the discovery of the 46 human chromosomes, Lejeune decided to develop ways of studying the chromosomes of people with Down’s syndrome. In 1959 he published his results showing that people with the syndrome have an extra chromosome – three at place number 21 instead of two. He coined the alternative name for the syndrome – ‘Trisomy 21’.

Screening

Lejeune carried out this work believing that the discovery could lead to better ways of supporting people through teaching and diet. He became the first Professor of Genetics in France, and he specialised in giving advice to families with a member with Down’s syndrome. He is said to have been able to recall the names and history of 5,000 people with Down’s syndrome. However, he was horrified when other doctors and researchers started to use his discovery to develop screening before birth and making available abortion as a means of prevention. He began to campaign against this, and founded an organisation to support pregnant women who did not wish to be screened or to have an abortion – ‘Secours aux Futures Mères’ (‘Help for Future Mothers’).

In 1972 in a speech in New York, Lejeune denounced as ‘an Institute of Death’ the American National Institute of Health, which was advocating adoption of pre-natal screening for Down’s syndrome in order to offer abortion. The consequences for him back in France were severe. His name was dropped from a shortlist for the Nobel Prize for his work in genetics and the funding for his research on stimulation and diet was withdrawn. Fortunately, his work did continue to be funded by sympathetic organisations, including the Society for the Protection of Unborn Children in Britain. There is now a Jérôme Lejeune Institute in Paris continuing to carry out research and give advice on stimulation, therapy and diet for people with Down’s syndrome, and an international Jérôme Lejeune Foundation raises funds and gives support for this work.

Lejeune died in 1994. His funeral in Notre Dame Cathedral was attended by many people with Down’s syndrome and their families who expressed great gratitude for his work. His daughter Clara has written a biography of him with the title Life is a Blessing.

Further reading

Clara Lejeune (2000) Life is a Blessing: a Biography of Jérôme Lejeune. San Francisco: Ignatius Press.