Up with Down ResearchA MOTHER CHALLENGES ASSUMPTIONS ABOUT THE SYNDROMe
Prenatal testing is a difficult business, all the more so when you get bad news. But it was especially tough for Michelle Sie Whitten, J89, simply because of the way she was informed. Ten years ago, a preliminary blood test showed a one in nine chance that the baby she was carrying would have Down syndrome, a genetic condition characterized by intellectual disabilities and a range of health issues. So Whitten underwent amniocentesis to get a definitive diagnosis— and discovered an unfortunate mindset lingering from an earlier era.
It started when Whitten and her husband, Tom, an art curator, met with a genetic counselor, who sat them down to watch a crudely made video full of outdated statistics about their baby’s chances of survival. Whitten was stunned. “It basically said that if your fetus has Down syndrome, there’s an x percent chance it will die in utero, a y percent chance it will die before age one, and a z percent chance of dying before three,” Whitten says, still shuddering at the memory. “And even if it lives, there are all the other issues that might come up. Afterward, the counselor told me, ‘Don’t cry. Eighty to ninety percent of Down syndrome pregnancies terminate, and you can, too.’ ”
Being presented with only one sensible option did not sit well with Whitten. She started doing research between bouts of crying. The first thing she discovered was that, thanks to advances in medical technology—such as better microsurgery techniques to repair congenital heart conditions associated with Down syndrome—life expectancy is now about double the thirty years the video had cited. “Immediately, I could breathe again,” Whitten says.
After connecting with their local support group, the Mile High Down Syndrome Network, in Denver, Whitten and her husband did a lot of soul searching and decided to keep the baby. Their daughter Sophia was born in June 2003. Although she did have atrioventricular septal defect (AVSD), a heart condition that required surgery at three months, Sophia is now a healthy nine-year-old.
True dismay set in only when Whitten started looking at the state of funding and research for Down syndrome. “I was shocked at the dearth of it,” she says. “There was just a fraction of what is raised and spent on other disabilities. It’s just insanely underfunded.”
She decided to do something about it. That led to the start of the Global Down Syndrome Foundation, which Whitten founded in 2009 and runs as executive director. It’s a nonprofit that raises about $2.5 million a year, which it spends on research for treatments that help people with Down syndrome and on outreach, to educate people about what the syndrome is and isn’t.
According to the Centers for Disease Control and Prevention, one of every 691 live babies born in America has Down syndrome. That makes it the most common human chromosome abnormality. It’s caused by an extra copy of the twenty-first chromosome—often a result of chromosome breakage, which is more common with older mothers (and the reason amniocentesis is recommended for pregnant women over age thirty-five). But as Whitten discovered during her research phase, people with Down syndrome fall across a gamut of ability. “Basically, there is a very small percentage of kids with Down syndrome who have IQs in the normal range,” she says. “And there’s also a very small percentage that have all sorts of problems with walking, talking, everything. Then there’s this whole middle range. It’s a different disease today from the eighties, when the average lifespan was only twenty-eight years.”
A negotiator by trade, Whitten worked for Encore Cable in Asia before becoming a mother. She plunged into the work of the foundation, which operates on several fronts in addition to fundraising. On the short-term practical side, the foundation underwrites an informational brochure about Down syndrome testing to give to expectant mothers. It also oversees the Be Beautiful Be Yourself Fashion Show, the country’s largest annual Down syndrome fundraiser.
For the longer term, the foundation makes grants for research—primarily to the University of Colorado’s Linda Crnic Institute for Down syndrome—and tries to steer the money and attention of others toward Down syndrome. Foundation-supported studies are in progress on congenital heart disease and its connection to the twenty-first chromosome; sleep apnea, which occurs in more than seventy percent of children with Down syndrome; and early-onset Alzheimer’s, which afflicts up to seventy-five percent of adults with Down syndrome.
Alzheimer’s is a particularly promising area for research, because it is also associated with the twenty-first chromosome. The chromosome contains the gene that makes amyloid precursor protein, associated with plaques that develop in the brains of people with Alzheimer’s. In effect, people with Down syndrome have an extra copy of the mechanism that abets in causing Alzheimer’s. “The acceptance of the link between them is very recent, but research on it goes back to 1984,” Whitten says. “Back then, shortened Down syndrome lifespans meant we didn’t see as many older people with Down syndrome get dementia or Alzheimer’s. Now that lifespans have increased, we see more of that. Maybe there can be research that helps both.”
Eventually, Whitten hopes the foundation can raise enough to contribute up to $4 million a year to research. “There’s a lot of work we want to do, and we’re taking baby steps toward it,” she says. “But we’ll do it. I can be like a dog with a bone.”
David Menconi, the music critic at the News & Observer in Raleigh, North Carolina, is a frequent contributor. He has a thirteen-year-old daughter, Claudia, with Down syndrome.