50 years ago today, December 6, 1962, Jérôme Lejeune received the first Kennedy Prize from President John F. Kennedy for his discovery of the genetic cause of Down syndrome, and for his commitment to continued research and care of those with genetic intellectual disabilities.
Jérôme Lejeune’s discovery in 1958, and its recognition at the White House 4 years later, was a turning point in the perception of persons with intellectual disabilities. Earlier in the 20th century in a book called “Metal Deficiency” a British physician had written: “Many of the defectives (sic) are utterly helpless, repulsive, and revolting in manners. Their existence is a source of sorrow and unhappiness to their parents. In my opinion, it would be an economical and humane procedure were their very existence to be painlessly terminated” (Quoted from Tales of Normansfield: The Langdon Down Legacy). While unfortunately that sentiment still rages in some circles today, it was Jérôme Lejeune’s discovery, and JFK’s recognition, that began to free persons with trisomy 21 of the stigma they had previously carried from their birth.
In his speech at the award dinner that evening, the President commented that intellectual disability had for years “been hidden under social disadvantages” and that it was “considered a mark against the parents” but, he said, “it was really a disease, or a difficulty, or a challenge to which few people gave their attention. Now we hope that it will come out into the bright light. And will be given the same sort of attention as cancer and heart disease and all the rest which afflict our people.”
Since 1996 the Jérôme Lejeune Foundation, which was founded by the Lejeune family, has been working to fulfill that hope. With offices in Paris and Philadelphia, the Foundation is the world’s largest private funder of research into therapeutic treatments for individuals with genetic intellectual disability, and also advances medical care and advocacy for these individuals. Also celebrating 50 years is President Kennedy’s legacy continued in the National Institute of Child Health and Human Development at the National Institutes of Health. Under the leadership of Dr. Yvonne Maddox, the NICHD has assumed a national leadership role in advancing the care of individuals with Down syndrome by funding research, coordinating the National Down Syndrome Consortium, and beginning the development of a new national contact registry of individuals with trisomy 21, an important step in paving the way for emerging clinical trials on treatments for Down syndrome.
Jérôme Lejeune’s transformational discovery was certainly an achievement worthy of presidential recognition. In his concluding remarks that evening, President Kennedy said that this research had “made it possible for a hundred or a thousand or twenty thousand children living in this country or in some other country to live a fruitful and happy life which would not have been led without… tireless patient work.”
Fifty years of dedication to research by Jérôme Lejeune, the Foundation that continues his legacy, and others, has advanced knowledge of genetic intellectual disability to the point where treatments for the cognitive impairment associated with trisomy 21 may be available within a decade. Jérôme Lejeune’s celebrated discovery of 1958 may soon open the door to the next transformational event in the lives of those living with trisomy 21: therapeutic treatments to improve cognition and to avoid the neurodegenerative effects experienced by older individuals living with trisomy 21.
