My sister, Kristin, and I grew up splashing together in swimming pools, delighting in ice cream cones, and singing along to movie musicals. We were very much alike, with what we saw as a small difference: She was born with Down syndrome and I wasn’t.
We’ve grown together into the people we are today, learning from each other and supporting one another. Kristin has become the checks and balances of my personal and professional lives. Whenever I am frustrated or tired by life’s hassles, Kristin’s can-do spirit reminds me that my struggles will not only be OK, but they will be worth it.
Kristin, now age 36, has inspired my life’s work — caring for individuals born with Down syndrome, working with their families, and furthering our community’s understanding of this genetic condition.
That understanding begins with better knowing the size of the Down syndrome population. Nearly every book, webpage, and research article about Down syndrome starts with information about the number of people living with it. But those estimates have been quite inaccurate.
Working with Gert de Graaf of the Dutch Down Syndrome Foundation and Frank Buckley of Down Syndrome Education International/USA, we stitched together expansive databases spanning six decades to create what we believe are more accurate estimates of the number of people living with Down syndrome.
Previous work by others estimated that 250,700 people with Down syndrome were living in the United States as of 2008. Our estimate, published earlier this year in the journal Genetics in Medicine, was considerably lower: 206,366 people living with Down syndrome as of 2010. That included individuals born outside the US but now living here. We used a more precise accounting for selective abortions and for long-term survival rates for children born with Down syndrome, which both influence the size of the population.
In a study published last year in the American Journal of Medical Genetics Part A, we observed that in recent years 30 percent fewer babies have been born with Down syndrome than there would have been if elective terminations were not available. In the US, almost three-quarters of expectant parents who learn prenatally that their child has Down syndrome choose to terminate the pregnancy. We estimated that about 3,100 fetuses with Down syndrome are terminated each year. That translates into 19 percent fewer people living with Down syndrome in the US as of 2010.
Babies born today with Down syndrome and their families can expect a lifetime of possibilities and potentials. The life expectancy for people with Down syndrome continues to rise — the median lifespan is now 58 years. Heart conditions, which can accompany Down syndrome, have been routinely and easily corrected by surgery since the early 1980s. Medications can solve co-occurring thyroid problems, and sleep apnea can be stamped out with good surveillance and treatment options.
These and other advances in caring for individuals with Down syndrome make it possible for people like Ben Majewski to lead thriving and healthy lives.
Ben is a well-known fixture for his role as a resource specialist in the Mass General Down Syndrome Program, which I co-direct. In between greeting and escorting patients from the waiting room to the exam room and monitoring the daily clinic schedule, Ben shares his experience as an individual with Down syndrome. Celiac disease is a common concern among patients and their parents, according to Ben, who is armed with his own background in managing that condition and an iPad full of reference material and presentations that he developed.