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.” – Cornelia de Lange, 1932

In 1916, 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 of the case to enlist for duty in World War I, where he was killed in action. Seventeen years would pass before another doctor wrote about, not one but two, similar cases.

Cornelia Catharina de Lange was born in Alkmaar, Holland in 1871 and in 1886 was the first girl in that town to enter the local high school. As a young woman, she entertained a desire to study medicine, but in accordance with the views of the time and her father’s objections that the medical profession was inappropriate for women, she entered the University of Amsterdam in 1891 to study chemistry. Soon, her father had a change of heart, and the following year she went on to pursue a medical degree. She graduated in 1897 and in the same year entered into general practice. She was only the fourth woman in the Netherlands to write a medical thesis.

In the early years of the 20th century, pediatrics was not yet a specialty in the Netherlands and doctors interested in improving their skills in this area often were compelled to study abroad. She 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. She quickly became renowned for her quiet, friendly, and humorous demeanor that put both parents and children at ease. She was also instrumental in establishing a new infants ward, which became an important training ground for nurses. She was the first woman on the medical faculty at the University of Amsterdam, served on the editorial board of the main Dutch medical journal, and her version of a German book on baby and child care is considered the “Dr. Spock” of the time. In 1927 she was appointed Chair of Pediatrics at the university. She held that position until 1938, when her disappointment in the university’s failure to give pediatrics the importance it deserved drove her back to the Emma Kinderziekenhuis. She continued to practice there until her death in 1950.

By the late 1920s, de Lange had achieved respect and acclaim for her work in pediatric medicine and for her keen, clinical eye (from 1929-1935, she was president of the Dutch Association of Pediatrics). 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, 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.

Between 1933 and 1942, five cases of CdLS were reported world-wide. In the years between 1943 and1952, there were six more. Sixteen cases were reported between 1953 and 1962, and in the five year span between 1963 and 1968, a total of 209 more cases were reported. Today, in the United States alone, the Cornelia de Lange Syndrome Foundation provides services to over 2,000 individuals with CdLS and their families. Together with the Scientific Advisory Council (SAC), a network of doctors, educators, and scientists in a cross range of specializations, the Foundation promotes research vital to improving early diagnosis and to finding the cause of the syndrome. Hundreds of volunteers across the nation (Awareness Coordinators, Regional Coordinators, and family and friends) organize media events and public activities to raise consciousness and funds, disseminate information about CdLS, and extend a personal touch to anyone interested in CdLS, including families, friends and professionals. The Foundation’s office in Avon, Connecticut hosts a team of social workers, as well as information, publications and development professionals dedicated to increasing awareness of the syndrome. But it wasn’t always like this.

In 1965, fifteen years after Dr. de Lange’s death, a baby girl was born in Seattle, Washington to Sue Anthony. Kathy Anthony was diagnosed with CdLS. At the time, little was known of the syndrome except that which had appeared in medical journals written in a dry clinical language and containing dire, hopeless predictions. Worse yet, most geneticists had never even heard of it. Five years later in Sitka, Alaska, Carol Welsh, the mother of Ron, a little boy with CdLS, read a newspaper article about the Anthonys. The two families corresponded for a while before finally getting together at the Seattle airport, where they were amazed at the similarities between their children. They realized how essential it was for families of children with the syndrome to know they were not alone, and that getting together with other families dealing with CdLS provided untold benefits for all involved.

And so, the Cornelia de Lange Syndrome Foundation was born out of a need to address the isolation and helplessness these families had experienced when their children were diagnosed. The founding mothers began the organization as a grass roots support group in which “reaching out” was its only program. It was their hope to formalize their vision and create a Foundation, where many services could be offered to families.

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 interested in sharing their commonality and information. In 1980, in response to Sue’s letter to Exceptional Parent magazine, eighteen families of children with CdLS convened for a picnic under a pavilion on a hilltop in Maryland. They came from all over the country to meet and share experiences. Several of the families in attendance had never even 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 first family gathering in Maryland went on to become an annual event. For four years, the pavilion drew increasing numbers of families and professionals, until the size of the gathering called for a larger venue. In 1985, the Foundation hosted its first conference in Indianapolis, Indiana and introduced the format that is still observed today: doctors and specialists presenting the latest research about CdLS and providing individual consultations, families and professionals sharing mutually helpful information, and Girl Scouts who come to provide child care. Conferences continued on an annual basis through 2001, when the establishment of five Regions brought services and gatherings to people on a more local level. Since the very early days, Regional Coordinators have been the first line of contact and support for families of children with CdLS. The 2004 Conference in Chicago, Illinois will launch the beginning of national conferences held every other year.

Major advancements in the fields of medicine and genetics have increased awareness and diagnostic techniques since the time of Cornelia de Lange and the founding mothers. More and more children are being diagnosed with the syndrome earlier and earlier. Information is readily available to families and physicians to help make educated decisions for the care of their children. Funds are being raised and donated to further the research necessary to find the cause and build services closer to where people live. And yet, an estimated 10,000 children and adults in the United States alone remain undetected.

2002 marked the 25th Anniversary of Reaching Out. Since 1977, when two mothers of children with CdLS combined their resources to cast a lifeline to others in the same situation, Reaching Out has gone from an informal newsletter mailed out to a handful of people to become the Foundation’s cornerstone publication. Today, Reaching Out finds itself in the hands of over 20,000 people per issue. Past issues of Reaching Out, covering a wide range of topics, have helped families cope with their frustration and isolation, giving them the comfort of knowing that they are not alone. Articles have included information from doctors and specialists, and from caring parents with advice on everything from feeding to dealing with grief. Siblings of children with CdLS have shared their love and admiration for their brothers and sisters. Proud grandparents, aunts, uncles and friends have contributed photographs and heart-felt praise for both the Foundation and the children in their lives.

As we move into the next quarter century of Reaching Out, it is a time of introspection, to look back at from where we have come and to direct our focus into the future. Reaching Out has gone through many changes over the years and promises to continue this evolution to meet the needs of its family of readers as they continue to grow and change.

We are on the verge of finding the cause of this syndrome that affects so many lives, but children with CdLS will always need the services of this Foundation. Each child, whether they were born yesterday or will be born tomorrow, will count on this publication to be a lifeline for their families, and to offer help and hope to all who care.