Why We Should All Celebrate World Down Syndrome Day

A DNA strand made from pink X Chromosomes against a graduated yellow background
A DNA strand made from pink X Chromosomes against a graduated yellow background

March 21st is internationally recognized as World Down Syndrome Day. Just like typical people, individuals with Down syndrome have two copies of each of their 23 chromosomes but they have third copy of chromosome 21, a genetic condition known as trisomy 21, hence the celebration on March 21st or 3-21.

While it is important to celebrate all the things that people with Down syndrome can do and how similar they are to others, I would argue it is equally important to acknowledge the ongoing fight against discrimination that their differences evoke.

If we consider that discrimination leveled against women or African Americans in our country is based on whether someone is born with an X or Y chromosome or with a few gene variants that define skin pigmentation, it is easy to see how people with Down syndrome had to endure unspeakable discrimination up until the 1990s -- denied medical care and education, forced to live in inhumane institutions, and essentially condemned to an early death.

Of course, we are not responsible for our chromosomes or genes any more than we are responsible for the parents we happen to have. Those who discriminate against people of a different genetic makeup fail to realize that we are all mutants. There is no such a thing as a perfect genome. We all carry DNA variants that predispose us to this or that "undesirable" trait. Nobody is exempt from this truth. White people are more likely to die of melanoma, black people are more likely to die of asthma, and the "sexiest woman alive" had to remove her breast tissue because of one particularly obnoxious mutation.

For a population geneticist, it is obvious that strength lies in diversity. Species with narrow gene pools are more likely to go extinct upon changes in the environment. Likewise, the civil rights movement is driven by the belief that diverse societies are stronger.

Today we stand on the shoulders of the human and civil rights activists of the 1960s and 1970s who pushed the frontiers for women, people of color, and those who are differently-abled. The victories are astonishing -- just a few decades ago Americans believed that people with Down syndrome did not have the right to live at home, go to school, be in a public place, or go to a restaurant. Today there are prominent Americans with Down syndrome including a motivational speaker, a restauranteur, an award-winning movie actor, a TV star, and an accomplished musician. And with the tearing down of inhumane institutions, the lifespan of people with Down syndrome has doubled since the 1980s.

Nowadays, in the U.S.A., people born this way are experiencing an unprecedented degree of inclusion. But there is another frontier that is very important to me that must be addressed -- discrimination amongst the scientific community.

The most incapacitating scientific assumption about Down syndrome is that it is too complex of a genetic condition, and that research on Down syndrome is unlikely to generate solutions for this population.

I strongly believe this assumption is intellectually dishonest. As a society, we spend a huge amount of resources on cancer research, hoping to unravel a way to selectively kill a part of ourselves that is bound to kill us, flesh of our own flesh that is driven by stochastic combinations of mutations, which are different for each cancer patient. Forty-five years after President Nixon declared the "War on Cancer" and billions of dollars later, people still die from cancer in huge numbers. Now, that, is what I call a complex genetic puzzle...

Research on Down syndrome has paid big dividends and will continue to do so. The outstanding increase in life expectancy and overall well-being for people with trisomy 21 is due to research that revealed specific issues that can be treated with available procedures, such as surgery to repair congenital heart defects and intestinal atresias, thyroid hormone supplementation to ameliorate hypothyroidism, and tailored physical therapy to improve muscular-skeletal function. As more research is done, it becomes evident that the syndrome can be deconvoluted into specific co-morbidities, many of which could be amenable to therapeutic interventions.

Last week, the Global Down Syndrome Foundation and the Linda Crnic Institute for Down Syndrome announced $1M in grants to fund new research, with a focus on the immune system. People with trisomy 21 display increased risk of developing several autoimmune disorders, including type I diabetes, celiac disease and autoimmune thyroid dysfunction. They also have increased risk of developing leukemias and other hematological disorders. Collectively, these observations point to strong immune dysregulation in Down syndrome, and this new research could eventually enable novel diagnostics and therapeutics strategies to benefit those affected by diseases of the immune system, with or without trisomy 21.

There is another fact about people with Down syndrome that is ripe for research -- they are also protected from hypertension, coronary artery disease, and most solid tumors. Now, that is a difference we can certainly crow about.

Last Friday, as I stood inside the Colorado state capitol with a dozen of my friends who happen to have Down syndrome, one of my young friends, Daniel, 10, went up to the Governor and said "Hey," - tugging the Governor's sleeve - "I think YOU should run for president; I would vote for YOU," to which the Governor replied with a big grin...

Moments like this remind me that people with Down syndrome are more awesome than different. Happy 3-21!