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What's Up Magazine

Is Science Fiction Becoming Reality?

Nov 08, 2013 12:39PM ● By Cate Reynolds
It was the sort of news story that makes your eyes screech to a halt as you scan Google News. “I must have read that wrong,” you say to yourself and scroll backwards. The tabloid-worthy headline screamed out: “A Cure for Down syndrome.” When did National Enquirer stories start filtering through Google News, you wonder. But this story was on the NBC News site…and on the Boston Globe site, among others Perhaps it was the choice of words in the headline that singled out this story. “Cure” rather than “prevent.” Could that really be possible? According to Researchers at the University of Massachusetts Medical School, it may well be. They claim to have found a way to block the extra chromosome that causes developmental challenges and delayed cognitive ability in people with Down syndrome. So far, it has only been tried in the laboratory, but the research team believes that treatments could be designed to affect these changes. They believe treatment even in adulthood could produce changes in brain function in those with Down syndrome.

What a miracle. And perhaps a potential dilemma. One in every 691 people (that’s about 6,000 babies) are born annually in the U.S. with Down syndrome, a genetic disorder caused by the presence of an extra chromosome 21. In a perfect world, those parents have loved and cherished their children, valuing them for the individuals they are, and nurturing productive, happy members of society. So how do you digest and deal with a treatment that promises to “fi x” those children you already love with all your heart just as they are? What should those parents, and others like them, do?

It wouldn’t be a difficult decision—according to one devoted father we spoke to. He told us that the lifetime focus for his son, born 18 years ago with Down syndrome, has been that his boy live as independent a life as possible. That has been the family’s goal, their mantra. If, he adds, someday in the future a scientific procedure advances that cause, then he’d be all for it. With their eyes firmly on the goal, he didn’t even hesitate to answer.

This study is also prompting researchers to examine the connection between Down syndrome and Alzheimer’s disease, and the chromosomal implications of same. As people with Down syndrome live longer and longer lives, more and more of them are developing Alzheimer’s…and at much younger ages than the general population. By the age of 40, 40 percent of people with Down syndrome will develop the disease; by age 50 it’s 50 percent. It is hoped that this puzzling anomaly may hold a key to a better understanding of Alzheimer’s, Down syndrome, how our brains function, and what gene therapy may play a part. —S.H.