For nearly 20 years, Down syndrome has been one of the least funded genetic conditions by our National Institutes of Health (NIH) despite being the leading cause of developmental delay in the U.S. and the world.
That’s surprising, especially since birthrates and the lifespan of people with Down syndrome have nearly doubled during the same time period. Our population has been exploding, not shrinking. The U.S., after all, is not Iceland.
It is also surprising in a scientific context given the extraordinary fact that people with Down syndrome have a radically different disease spectrum. They are the largest group of people who are genetically predisposed to certain diseases like Alzheimer’s and autoimmune disorders, and yet genetically protected from other diseases such as solid tumor cancers, certain heart attacks, and strokes.
For those of us with family members with Down syndrome, we understand that NIH research, in many ways, is related to health outcomes for our loved ones. For example, we lack even the basic, research-based medical care guidelines for adults with the condition.
So after years of tireless advocacy and investment, the Global Down Syndrome Foundation (Global) is celebrating the first increase in Down syndrome research funding at the NIH — from $35 million in FY2017 to $58 million in FY2018.
It is a milestone increase and an important paradigm change – instead of Down syndrome research being funded by the National Institute of Child Health & Human Development (NICHD), it will also be funded by a “Trans-NIH initiative” that will include the National Institutes of Aging and many other institutes.
This groundbreaking news was announced by Representative Tom Cole (R-OK) in Washington, D.C., and supported by Representative Rosa DeLauro (D-CT) who are, respectively, Chair and Ranking Member of the House Labor and Health and Human Services Appropriations Subcommittee.
Many years of hard work and support from bipartisan leadership on the hill, our Global network of scientists, dedicated Global members, families, and self-advocates led to this happy result. A major turning point was last October when we were invited to testify before Congress. Testimony from our spokesperson Frank Stephens went viral reaching nearly 200 million views. His powerful statement: “I am a man with Down syndrome and my life is worth living.”
Dr. Joaquín Espinosa, executive director of the Linda Crnic Institute for Down Syndrome, also testified and presented his findings from the institute’s game-changing research, the Crnic Institute Human Trisome ProjectTM, which allows us to recast Down syndrome as an immune system disorder.
NIH, too, deserves kudos for encouraging Global to advocate with Congress. With 27 institutes and over a century of history, it is not easy to shift gears. We are especially hopeful by the recent appointment of Dr. Diana Bianchi to the head of the NICHD – the first Down syndrome researcher to hold such a role.
We are also deeply grateful to our heroes in Washington – Representatives Tom Cole, Rosa DeLauro, Cathy McMorris Rodgers, Pete Sessions, Nita Lowey, Cheri Bustos, Eleanor Holmes Norton, Mike Coffman, Sen. Roy Blunt, and many others who, regardless of political affiliation, support a brighter future for our children and adults with Down syndrome.
Because of Global and our affiliates, Colorado is often considered the “epicenter” of Down syndrome research and medical care. At times the expectations associated with “epicenter” feels overwhelming.
But all I have to do is gaze at my beautiful 15-year-old, Sophia, or attend one of our events with hundreds of spectacular individuals who have Down syndrome, and my team and I are re-energized.
For far too long, our children and adults have been discriminated against. But we can feel the palpable tides of change turning in our favor. Bitty and Beau’s won the CNN hero award. A baby with Down syndrome is the 2018 Gerber Spokesbaby. Born this Way won multiple Emmys. The NIH increased research funding benefitting people with Down syndrome.
Finally, some progress.