WASHINGTON — Actor and Down syndrome advocate Frank Stephens was greeted by a standing ovation after he testified at a congressional hearing Wednesday.
Stephens, who lives in the Washington, D.C, area, spoke on behalf the Denver-based Global Down Syndrome Foundation at a hearing to determine whether Congress should fund more research into the genetic abnormality.
“I am not a research scientist,” Stephens said in stammering voice. “However, no one knows more about life with Down syndrome than I do. I am a man with Down syndrome, and my life is worth living.”
To see a video of Stephens’ full testimony, click here.
The House Appropriations subcommittee on Labor, Health and Human Services is considering a proposal for the National Institutes of Health to use Down syndrome research to find treatments for heart disease, hypertension and solid-tumor cancers.
The cancers and cardiovascular illnesses kill millions of Americans each year. Very few of them have Down syndrome.
Researchers believe the overactive immune systems of people with Down Syndrome play a role in preventing heart problems and solid-tumor cancers, such as breast cancer and prostate cancer. Now Congress wants to know whether lessons can be learned from Down Syndrome to protect the rest of the population.
Some of the research was done at Linda Crnic Institute for Down Syndrome at the University of Colorado School of Medicine.
Joaquin M. Espinosa, the Crnic Institute’s executive director, told Congress the research they are considering funding could represent “one of the most spectacular developments in the history of medicine and biomedical research.”
“They are either strongly protected or strongly predisposed to major medical conditions that affect the typical population,” Espinosa said about persons with Down syndrome.
The same syndrome that protects them from heart attacks, also heightens their risk for Alzheimer’s disease, leukemia, arthritis, diabetes and thyroid problems, Espinosa said.
Using their altered chromosomes to figure out how Alzheimer’s and the other diseases are triggered could help researchers deactivate the diseases’ biological origins, he said.
“I hope you will agree that this population deserves special attention,” Espinosa said.
He described a grim outlook if current trends continue without cures that Down syndrome research might offer.
The financial toll for treating and caring for Alzheimer’s patients reaches into the billions of dollars each year. As the average age of Americans increases, Alzheimer’s and related dementia will play a bigger role in their lives, striking as many as one in three people, he said.
Down syndrome also is on the rise, affecting as many as 400,000 Americans, Espinosa said. Four times as many cases are reported now than in the 1950s.
“Simply put, people with Down syndrome are here to stay,” Espinosa said.
Down syndrome is a genetic disorder caused by the presence of three copies of chromosome 21, compared with two in most people. It is associated with growth delays, facial features and moderate intellectual disability. The adults typically have the mental ability of an average 8- or 9-year old child.
Most parents of persons with Down Syndrome are genetically normal. No known behaviors or environmental factors cause the syndrome. There is no cure for it.
Down syndrome can be detected through prenatal screening, which often leads the parents to seek abortions.
Colorado’s role in assisting persons with Down Syndrome took a leap forward in 2009 when the nonprofit advocacy group Global Down Syndrome Foundation was formally established. The foundation’s primary focus is supporting the Crnic Institute.
Michelle Sie Whitten, executive director of the foundation, told Congress the syndrome was the Rockville, Maryland-based National Institutes of Health’s least-funded genetic condition.
Whitten was a co-founder of the foundation. She has a 14-year-old daughter, Sophia, with Down syndrome.
“We consider Sophia a gift who has enriched our lives and all those around her,” Whitten said.
The Global Down Syndrome Foundation has used much of its roughly $8 million in annual revenue to promote research into Down syndrome.
Research that led to the congressional hearing Wednesday is being done at 38 laboratories and by more than 140 scientists, Whitten said.
“The science stands ready but now we need our colleagues at NIH (the National Institutes of Health) to think in new ways with us to leverage these amazing breakthroughs and consider for a moment how this can be done,” she said.
Despite words of support from members Congress, the research funding proposals face tough obstacles.
Part of the funding Whitten seeks would come from the NIH budget for Alzheimer’s disease research. The House Appropriations subcommittee proposed spending $1.8 billion for NIH research into Alzheimer’s in fiscal 2018, a $400 million increase over the previous year.
However, the Trump administration wants to decrease scientific research funding to help reduce the federal deficit.
“The potential for scientific breakthroughs related to Down syndrome has never been greater than it is today,” said Rep. Rosa DeLauro, D-Conn.