It’s that ability to choose that makes many other people uncomfortable about the move toward routine screening. That’s because CF isn’t really comparable to many other genetic diseases doctors screen for during pregnancy. To have a child with the genetic disorder known as Tay-Sachs, for instance, is “to have five years of watching a child go downhill with no possibility of intervention,” says Peter Rowley, a geneticist at the University of Rochester in New York.
The life expectancy of a child born with CF, however, can be as long as 45 to 50 years. “Cystic fibrosis is still a very serious disease,” says Beryl Rosenstein, M.D., a director of the Cystic Fibrosis Center at Johns Hopkins University in Baltimore, “but we’re getting away from calling it a fatal illness to calling it a life-shortening condition.” Many patients today, say Rosenstein, have “a fairly good quality of life.” Katie Richardson, a 34-year-old biotech patent attorney in Great Falls, Virginia, concurs: “I’m very thankful that nobody was able to make a decision about my birth.” Richardson has managed her CF while working and raising two boys, Max, 3, and Judson, 6, neither of whom has the disease.
Forty years ago it was a different story: Most people born with cystic fibrosis essentially starved to death by the age of 5 because their bodies couldn’t digest proteins and fats. Today, as long as Cindy Lynn takes her enzyme pills within a half hour of eating, she can get enough nutrition to grow (although like nearly all cystic fibrosis patients, she’s painfully thin). New aerosol antibiotics and drugs that chop up mucus in the lungs have also improved the lives of cystic-fibrosis patients.
Richardson sometimes uses an ultrasound nebulizer while driving to work; the device creates a fine mist of lung-clearing medicine that she breathes in through a mouthpiece. Beth Sufian, 36, an attorney in Houston, Texas, who represents CF patients in antidiscrimination cases, puts on her mechanical vest–which vibrates her chest to loosen phlegm–while she reads or works in the morning and evening.
Then, too, there are questions about the screening tests’ accuracy. At least 1,000 mutations in the gene’s DNA sequence have the potential to cause CF. Checking for all these mutations would be impractical and expensive, so the American College of Obstetricians and Gynecologists recommends that labs check for only the 25 most common ones, which account for roughly 80 percent of all cystic-fibrosis genes in the Caucasian population.
The compromise means that labs that follow these rules will get false negatives 20 percent of the time. Taking into account that men as well as women will be tested, this means that about a third of the 900 babies born with CF in the United States each year would be missed by the screening program–and you might go for weeks, months, or even years with a gravely ill child before you finally understood what the problem was.
Maggie Babson was one such child. Her mom, 30-year-old Alyson, tested positive for a common cystic-fibrosis mutation when she was pregnant with Maggie, early in 2000. When Alyson’s husband, Osman, was tested, the screen didn’t pick up a mutation. The Lexington, Massachusetts, couple thought no more about it–until their daughter was born.
Maggie was an unhappy baby. She weighed five pounds, six ounces at birth, but lost weight for three weeks though she nursed 12 times a day. “She would buck like a fish in a boat and flatulate like a 40-year-old man who just drank a case of Budweiser,” recalls Osman. “She screamed with pain, pooped every hour, and didn’t sleep a wink. We were just out of our minds.”
As it happened, when Maggie was born, Massachusetts had just begun a screening program that checks newborns (via blood and sweat samples) for CF. Maggie was put on enzymes and began gaining weight on her way to becoming the extremely happy, cherubic child that she is today. It turned out that Osman was a carrier of a rare cystic-fibrosis mutation, one that wasn’t picked up by the genetic screen.
The Babsons realize that their case was extraordinary. That’s why, looking back on those terrible three weeks after Maggie’s birth, they believe that genetic-carrier testing for CF is a good idea–even if it won’t catch cases like theirs. “I’m not so sure that if the results of Osman’s test had been positive, we would have done anything differently,” says Alyson, “but we would have been more educated and prepared.”