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CdLS Foundation History

History of the CdLS Foundation

“...I believe that the pediatrician will...flutter with butterflies, frolic with lambs, coo with babies and retain deep inside something of eternal youth.” – Dr. Cornelia de Lange, 1932

In 1916, Dr. Winfried Robert Clemens Brachmann, a young German physician working at the Children's Hospital in Dresden, wrote a report on a 19-day old infant who had died of pneumonia. His account noted a number of characteristics previously unreported in the history of pediatric medicine. Unfortunately, Dr. Brachmann was forced to interrupt his study to enlist for duty in World War I, where he was killed in action. Seventeen years would pass before another doctor wrote about two similar cases.

Cornelia Catharina de Lange was born in Alkmaar, Holland, in 1871.  She graduated from the University of Amsterdam in 1897 and entered into general practice. She was only the fourth woman in the Netherlands to write a medical thesis.

At the time, pediatrics was not a specialty in the Netherlands, so doctors interested in this area often went abroad. Dr. de Lange went to Switzerland, where under the tutelage of Oskar Wyss, she worked in the “Kinderspital” in Zurich. By 1907, her reputation as a pioneer in the field of pediatrics had earned her a position at the Emma Kinderziekenhuis, Amsterdam’s Children’s Hospital.

By the late 1920s, Dr. de Lange had achieved respect and acclaim for her work in pediatric medicine and for her keen, clinical eye.  But in 1933, she immortalized her name when she reported on two unrelated children with similar features–one 17 months, the other six months–who had been admitted to the hospital within weeks of each other. Not only did the little girls have the same medical conditions, their resemblance to each other was remarkable. She described the two children as “typus degenerativus Amstelodamensis” (Amsterdam degeneration type).

In both cases, Dr. de Lange took great pains to record her observations in minute detail. Unfortunately, she was unable to find a similar condition recorded in medical literature. Most likely, she overlooked Dr. Brachmann’s report because her predecessor had concentrated his studies on different aspects of the syndrome. In 1941, she presented a third case to the Amsterdam Neurological Society, and the Cornelia de Lange Syndrome gained recognition. She received a knighthood from the Dutch government in 1947. She died three years later.

In 1965, fifteen years after Dr. de Lange’s death, a baby girl with CdLS was born in Seattle, WA, to Sue Anthony. At the time, little was known about the syndrome except what appeared in medical journals. Most of it was written in dry clinical language and contained dire, hopeless predictions. Worse yet, most geneticists had never even heard of it. Five years later in Sitka, AK, Carol Welsh, the mother of a little boy with CdLS, read a newspaper article about the Anthony family. The two families corresponded and later met in person at the Seattle airport. Sue and Carol realized how important it was for families of children with CdLS to know they are not alone.

These mothers began organizing the grassroots support group, in which the Reaching Out newsletter was its only program. Using a typewriter and mimeograph machine, Sue and Carol published the first issue of Reaching Out in the summer of 1977. They sent the publication to nine families and a small group of professionals. In 1980, in response to Sue’s letter to Exceptional Parent magazine, 18 families convened for a picnic at a state park in Maryland. Several of the families had never seen another child with CdLS. A year later, the Foundation incorporated as a not-for-profit organization and named Dr. Laird Jackson, a geneticist at Jefferson Medical College in Philadelphia, its first medical director.

That gathering in Maryland went on to become an annual event. For four years, the gathering increased in numbers of families and professionals, until the size called for a larger venue. In 1985, the Foundation hosted its first conference in Indianapolis, IN, and introduced the format that exists today.

Major advancements in the fields of medicine and genetics have increased awareness and diagnostic techniques since the time of Dr. de Lange and the founding mothers. More and more children are diagnosed with the syndrome earlier, and information is readily available to families and physicians.