Magazine article The Exceptional Parent

The Fork in the Road: For the Next 36 Years, until His Death, Dr. Jerome Lejeune Dedicated Himself to the Medical Care, Advocacy, and Research to Improve the Lives of Persons with Genetic Intellectual Disabilities, Their Families and Society

Magazine article The Exceptional Parent

The Fork in the Road: For the Next 36 Years, until His Death, Dr. Jerome Lejeune Dedicated Himself to the Medical Care, Advocacy, and Research to Improve the Lives of Persons with Genetic Intellectual Disabilities, Their Families and Society

Article excerpt

Editor's Note: The following talk was delivered by Dr. Joseph P. Dutkowsky at the American Academy for Developmental Medicine and Dentistry's (AADMD) Annual Education Conference held in Princeton, NJ on June 17, 2014, the same week the 2014 Special Olympics USA Games took place.

Raise your hand if you have ever heard the name of Jerome Lejeune. Humm, three people out of about one hundred. Now keep your hand raised if you could come up here and tell this audience what he did that matters for persons with intellectual disabilities. Down to one. This is interesting because the work of Jerome Lejeune is fundamental to the work of this academy and to the National Special Olympic Games that are happening all around us.

Two months ago I had the opportunity to be at an event in Paris that commemorated the twentieth anniversary of Jerome Lejeune's death. Interestingly, the event was not at a university or part of some academic symposium. It was in Notre Dame Cathedral. There was a formal High Mass in the great church with the Cardinal Archbishop of Paris presiding. Notre Dame was packed, standing room only, and I noted a disproportionate number of persons with Down syndrome in the congregation. After Mass there was a reception and we drank champagne on the lawn of Notre Dame celebrating the great man's legacy.

His widow then invited me and my wife to lunch at their home. We crossed The Seine to the Left Bank and went down two streets where Madam Lejeune led us to a typical row house with a shop on the first floor. She unlocked the side door and we walked down a hallway to a narrow set of stairs that led up to their home. Like many homes, children and grandchildren came and went as we talked in their modest but comfortable living room. She showed me The Kennedy Prize her husband had been awarded, the first ever given and handled to him personally by The President.

Madam Lejeune then walked me up an old wooden staircase to her husband's office which had changed little since his death. I remember there was a cup filled with sharpened and very short pencil stubs he had used to write many notes and letters. He had been a prolific academic and personal writer and all of this correspondence was there and catalogued. She even showed me and opened a suitcase where she kept the private letters he had sent her during his travels.

I guess you're wondering by now what Jerome Lejuene did that was so important to persons with intellectual developmental disabilities. Dr. Jerome Lejeune is considered to be the Father of Modern Genetics. He was the first person to look down the barrel of a microscope and count 47 chromosomes on a tissue sample from a person with Down syndrome. His additional discoveries include the identification of trisomy 8 and 9, the description of 18q syndrome, and the discovery that cri du chat syndrome is caused by a missing piece of chromosome 5.

Dr. Lejeune's name made an unexpected resurgence in the media last year when one of the co-workers in his lab claimed that this person actually was the first to count 47 chromosomes and Dr. Lejeune co-opted the credit. The response in France was intense. There was a rush to rewrite medical and scientific history and correct the presumed wrong to the individual who made the claim. On this side of the Atlantic, two popular science based magazines quickly published the story and Wikipedia was even changed for a day. However, this rush to publication occurred solely on the basis of an individual's claim without any supporting evidence. Not one letter, not one lab notebook, not one collaborating witness.

Now, I already told you that I had been in Dr. Lejeune's study, that he had been a prolific writer, and that all his correspondence had been saved and catalogued. Dr. Lejeune's laboratory notebook clearly shows that he counted 47 chromosomes on a preparation from a patient with Down syndrome for the first time on May 22, 1958. …

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