In the News

As published in the Danbury News-Times, September 12, 2004.

Simple Test for Newborns Holds Key to Cystic Fibrosis Prognosis

By Robert Miller

BETHEL — It was the taste of salt on her sick son's forehead that sealed it for Sherry Jay.

Her son, Brandon, had been ill for weeks. He wasn't gaining weight. At five months, he weighed 10 pounds. He had a bad cough. He was not thriving the way newborns are supposed to thrive.

"He wasn't rolling over," she said. "Maybe he sat and listened to music. But he never grabbed at a toy."

After searching the Internet, she found these symptoms fit the general description of a child with cystic fibrosis, a genetic disease that causes the mucous in a patient's body to thicken to a sludge. The Web site she found mentioned that children with the disease had salty skin. She hurried over to Brandon and kissed him.

"He was as salty as a pretzel," she said.

After arguing with her pediatrician and his staff — who bluntly told her she was wrong, then told her it would take three weeks to schedule the tests to confirm cystic fibrosis — Jay called Danbury Hospital.

"We were in the next day at 9 a.m.," she said. "By noon, they had a positive test for cystic fibrosis."

The correct diagnosis has restored Brandon, now 2, to a healthy life. While he needs daily medication and pulmonary therapy, he's taking on the world the way a toddler should.

"He's still small, but nothing like before," his mother said.

The experience has also made Sherry Jay and her husband, Jeremy, strong supporters of a proposal to have all children screened for cystic fibrosis at birth, through a simple blood test. State Sen. David Cappiello, R-Danbury, has pledged to take the fight to the General Assembly this year.

"It won't mean that it will stop any child from getting cystic fibrosis," Jeremy said. "But it does mean we can save children with it from being so sick and getting malnutrition. We don't want any parents to have to go through what we did."

And, thanks to cutting-edge genetic testing of embryos at the University of Connecticut Health Center, Sherry is now pregnant again —
this time with a child she and Jeremy know does not carry their flawed genes.

"It's absolutely amazing," she said. "I never had any interest in medicine. Now, I'm just immersed in this stuff."

A person with cystic fibrosis has a genetic flaw creating an imbalance in the body's chemistry. That imbalance creates a thick mucous that can clog up the lungs and block secretions of enzymes from the pancreas to the intestine that the body needs for proper digestion.

These problems persist for a lifetime. The affected person can have persistent infections in the lungs, leading to scarring and pulmonary problems. They have a higher rate of diabetes than people without cystic fibrosis. Some develop liver disease as they grow older. Both sexes can have reproductive problems, with almost all males rendered infertile by the disease.

To inherit the disease, a child's parents must have a certain genetic flaw. If they do, there's a one-in-four chance the two flawed genes will match up and give one of their offspring cystic fibrosis. About one out of every 32 people carry the defective gene. A person can be a carrier and never know it.

"You can have no idea," said Sherry Jay, pointing out there was no history of the disease in either her family or her husband's.

Sherry Jay said Brandon was always a sickly baby, with a persistent cough and cold.

"I kept bringing him to the doctor and they kept telling me to use nose drops and children's Tylenol," she said. "I'd ask what was wrong and they'd say 'Nothing.' "

By the time they found out what was wrong with Brandon, he weighed 10 pounds and had pneumonia. Dr. Gregory Dworkin, chief of pediatric pulmonology at Danbury Hospital, sent Brandon to the Connecticut Children's Hospital in Hartford, where they have a center for kids with cystic fibrosis.

Such centers, which take a concentrated, multi-disciplinary approach to the disease, are one of the reasons kids like Brandon can have their lives prolonged and improved. The median age for survival for cystic fibrosis patients is now in the mid-30s and improving constantly.

"It's not just new therapies," said Dr. Preston Campbell, vice-president for medical affairs with the Cystic Fibrosis Foundation in Bethesda, Md. "It's the way established therapies are applied. It's much better than it was even 10 years ago."

One of those therapies — which the Jays must do daily — is to tap Brandon's chest with a special cup, called a chest clapper, to loosen the thick mucous in his lungs. He then has to breathe with a nebulizer which delivers a mist of albuterol — a drug also used by asthma patients — to his lungs, relaxing and opening his airways.

They also have to give him a special supplement with digestive enzymes — enzymes that mucous blocks from traveling from the pancreas to the gut, Dworkin said.

The Jays have become advocates in getting help for people with cystic fibrosis. They've learned there's a simple screening test using a blood sample can indicate whether a child has the disease.

Campbell acknowledged that out of 10 babies that test positive in the initial screening, only one will have cystic fibrosis. That means some parents will suffer from a lot of anxiety about their child, perhaps even after they learn there's nothing to worry about.

A few states — Colorado, Wisconsin, Wyoming, New Jersey, Mississippi, Ohio, and South Carolina — have already mandated such testing. Connecticut has not, although two hospitals — Yale New-Haven and the University of Connecticut Medical Center in Farmington — now perform it on all newborns. Danbury Hospital and New Milford do not. The test costs about $25 to perform.

Dworkin, of Danbury Hospital, pointed out that the state already tests babies for some genetic and metabolic diseases at birth. The state labs, he said, could test for cystic fibrosis using the same sample of blood.

"This is one of the most common genetic disease a child can have," Sherry Jay said. "It needs to be screened for."

Cappiello sponsored legislation in 2002 that led to state testing for L-CHAD, a genetic disorder that prevents the body from breaking down fatty acids. He said he will do the same for cystic fibrosis this year.

"This makes sense," Cappiello said. "It could not only save lives, it could affect the quality of life for kids who have this disease."

As they got Brandon's life straightened out, the Jays began thinking of the future. They wanted more children, but knowing the problems Brandon has faced, the prospects gave them pause.

Then Dr. Gerard Foye of the Candlewood Center for Women's Health told them of a way to avoid cystic fibrosis in their second child.

The University of Connecticut Health Center's Center for Reproductive Services now performs pre-implantation genetic diagnosis, or PGD.

In the procedure, doctors give female patients drugs to increase the number of eggs they produce. They remove the eggs and fertilize them with sperm. They then wait until the embryos have developed to eight cells. They remove one of those cells to find out if it's free of the defective gene that causes a particular disease. If it is, the egg is implanted back in the mother's womb.

The procedure costs about $20,000, which Anthem Blue Cross and Blue Shield agreed to cover.

Anthem spokeswoman Karin Nobile said it is Anthem's policy to pay for PGD if there is sufficient medical evidence and the genetic disease can be identified in an embryo.

"Our mission is to improve the people we serve," Nobile said. "I'm very glad this person saw that, in word and deed."

Dr. Claudio Benadiva, director of the in vitro fertilization lab at the center, said it started offering PGD three years ago and now does about one procedure a month.

But it is presenting the medical world with definite ethical issues.

Karen Maschke, an associate specializing in ethics and science at the Hastings Institute, a bioethics think tank in Garrison, N.Y., said the issues start at the basic level: whether PGD should be allowed at all.

In cases where the disease would kill the child in infancy, she said, the justification for PGD seems strong.

"But today, with diseases like cystic fibrosis, where people can live into their 30s, is it acceptable?," she said. "How perfect does perfect have to be?"

Maschke said advocates for people with disabilities worry that, when parents can get "perfect" babies, the lives of the disabled will become harder. PGD also raises issues of economic segregation in American society, said Kathy Hudson, director of the Johns Hopkins Genetics and Public Policy Center in Washington, D.C.

"I had a woman say to me 'I can see a day in America where only the poor have sick children,' " Hudson said.

Hudson said the Center for Genetics and Public Policy has taken polls that show a majority of Americans approve of PGD in cases where it can prevent a serious or fatal childhood illness. Cystic fibrosis would come under that category, she said.

But support declines for using PGD to treat illnesses that occur later in life; for choosing the sex of a child; and to alter characteristics that have nothing to do with health.

Benadiva said many people believe PGD is ethically and morally more acceptable than parents with genetic flaws conceiving a child, finding out through amniocentesis or ultrasound that the child has a life-threatening or disabling illness, and then facing the issue of aborting the child.

For the Jays, the issues are much less abstract.

"I can't imagine taking my chances and worrying," Sherry Jay said of her pregnancy.

By now, Sherry Jay has entered her second trimester without any problems. Because of all the work and stress and worry involved with Brandon, she said, she still worries about her next child.

"Once something like this happens, you're afraid of everything."

Except, in this case, cystic fibrosis.

"That's not on my list of things to worry about," she said.