A Personal Glimpse Into the Foundation’s Establishment
About the Global Down Syndrome Foundation
The Global Down Syndrome Foundation was formally established by Anna and John J. Sie in 2009 in Denver, Colorado as a non-profit organization dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.
“Never doubt that a small group of committed people can change the world. Indeed, it is the only thing that ever has.” Margaret Mead
An inspiration is born.
When the Sies’ first granddaughter was born with Down syndrome, the family personally experienced many disturbing situations around the diagnosis, healthcare and education of their granddaughter. Prenatally, they were given incorrect information about the lifespan their granddaughter would have, and the genetic counseling was focused on termination and not educated choices.
In order to ensure the best medical care for their granddaughter, the family searched for the best local doctor who would ideally have dozens – if not more – children with Down syndrome in their practice. There were no such local experts, and the Sies began to wonder how families with limited resources or education were able to find good quality health care for their children with Down syndrome.
Because of additional medical issues, the family also experienced medical specialists who used antiquated language and who had outdated stereotypes about people with Down syndrome that they concluded were dangerous (e.g. people with Down syndrome don’t feel pain, people with Down syndrome cannot evolve past a preschool level).
In addition, although they were receiving interventions and therapies from the state from local experts, it was only after spending time with a Anna and John J. Sie Foundation, to investigate the area of medical care for people with Down syndrome.
The results of the investigation were extraordinarily disturbing to the Sies. Studies showed that the majority of doctors and medical students in the United States felt they were inadequately trained to provide a pre-natal or post-natal diagnosis of Down syndrome. The overwhelming majority of parents of children with Down syndrome in the United States had a traumatic and negative experience around diagnosis. The medical care standards for people with Down syndrome hadn’t been updated in more than a decade. And statistics around termination rates, medical conditions such as sleep apnea, and even the population of people with Down syndrome were fundamentally flawed or needed proper research to be validated.
Most disturbing for the Sies was the discovery that the National Institutes of Health, the largest US government organization funding research for disease and disabilities, had started to seriously “de-fund” research that would benefit people with Down syndrome starting in the year 2000. In 2006, when the Sies had first started to calculate what that funding was, research for people with Down syndrome had reached an all-time low of $14 million (out of a $28.5 billion budget) or a paltry 0.0005 of the annual NIH budget. This despite the fact that Down syndrome was and is the most frequent chromosomal disorder.
It was very clear to the Sies that without research, there is no hope for improving interventions and therapies or proving whether existing ones work or not. Without research, there is no hope that we can discover more effective ways people with Down syndrome learn (and they can learn!). Without research, the real frequency of disease in the Down syndrome population (e.g. leukemia, sleep apnea, alzheimer’s disease) cannot be known nor cures advanced through the population. And without research, there is no hope of updating best practices guidelines let alone disseminating them to medical schools, doctors and families – the original intent of the Sies decision to make a difference to all people with Down syndrome.
In 2006, the Sies organized the Sie Family Research Summit on Down Syndrome, moderated by Nobel Laureate Tom Cech. The results of that Summit changed the course of the Sies focus to include and emphasize making a difference through critically need research that would allow for the best medical care for people with Down syndrome.
In 2008 and 2009 respectively, the Sies became the founding donors of the first academic home for Down syndrome research – the Linda Cnric Institute for Down Syndrome, and the corresponding public charity, the Global Down Syndrome Foundation.