Feb. 11--Lisa Joss-Moore was more than four months pregnant when she learned her baby had cystic fibrosis, a genetic disease that damages the lungs and often leads to an early death.
Joss-Moore imagines she might have considered abortion earlier in her life, for fear of having a sick child in pain. But the baby who listened to her husband, Barry, croon "Love Me Tender" close to her belly was already part of the family.
Now 5, Mia dances, skis, runs trails. Joss-Moore says her daughter is "perfectly healthy" because the family is fastidious about preventing lung damage -- and because Mia is lucky.
Her parents have decided not to have another baby, whose disease could be worse and who could pass infections to Mia. "It wasn't worth the risk," Joss-Moore said recently, sitting outside of Mia's dance class. "You can't know you're going to get another Mia."
It's a calculus more families are forced to make as prenatal genetic testing becomes more available.
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Parents opting out -- A recent study in the Journal of American Medical Association found some parents are choosing to not have children with cystic fibrosis, which causes mucus to build up and clog the lungs, the pancreas and digestive tract.
Researchers found the number of babies born with cystic fibrosis in Italy significantly dropped in a region where couples were routinely screened for the genetic mutation. Over a decade, 113 fewer infants
were born to those couples. Most appeared to have decided not to have children; some had abortions.
The findings trouble Utah doctor Ted Liou, who treats adults as director of the Intermountain Cystic Fibrosis Center at the University of Utah.
Although there is no cure and patients will likely die of their disease, it's not a death sentence, Liou said. Medication can help patients absorb nutrients. They can also be treated for mucus-related infections that damage the lungs and cause breathing problems.
By comparison, the genetic disease Tay-Sachs, also detectable in the womb, is untreatable and usually causes death by age 4.
Although cystic fibrosis once led to death during elementary school years, half of the patients in the United States today are estimated to be adults. And with the improved treatments, half of all patients are expected to live to be 37.
"We see the plus sides of CF. You see the nobility of people rising up and responding to suffering," said Liou, who wrote an editorial in JAMA expressing concern that couples are avoiding babies with cystic disorder. He said he is chiefly concerned about abortion.
"We see young kids grow into adults, get through college, find a mate, start families, find interesting, fulfilling jobs," he said. "Then you come across an article that says people are choosing not to have children with CF because it's so hard."
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Deciding to screen -- Ten million Americans are thought to be carriers of one of the 1,400 genetic mutations that causes cystic fibrosis, according to the Cystic Fibrosis Foundation. The mutations are more common among Caucasian couples.
If both parents are carriers, their children have a 25 percent chance of having the disorder. The American College of Obstetricians and Gynecologists now recommends all couples seeking preconception or prenatal care be screened, which it used to advise only for those with a family history of cystic fibrosis.
In Utah, families most often learn their child has cystic fibrosis after birth, according to doctors. That might be because their insurance doesn't cover the carrier test, which costs between $500 and $700.
But even if more were screened, Janice Bryne doesn't believe the number of abortions would increase in Utah.
"It's an insult to someone's intelligence [who is checking on the health of their unborn baby] that they're going to eliminate them if they're not perfect," said Bryne, a U. doctor who cares for women whose pregnancies are complicated by fetal anomalies and genetic diseases.
Joss-Moore said she was glad to know early about Mia's diagnosis. It helped her mentally prepare and gave her time to meet with a pediatric cystic fibrosis doctor. Mia started taking enzymes to aid digestion at 5 days old.
"The difference between good and bad outcomes stems from preventative measures," Joss-Moore said. "We believe she'll have essentially a normal lifespan."
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Too unknown to judge -- Liou acknowledges people with cystic fibrosis face significant challenges. Treatments can cost "tens of thousands of dollars" a year. Patients spend time each day clearing out mucus from their airways, often by breathing in medication and wearing a mechanical vest that pounds their chest. They take dozens of pills a day, including antibiotics, enzymes and vitamins. And even patients with mild cases spend weeks in the hospital when their lung function drops.
Maryann Andrus was recently in the cystic fibrosis ward at University Hospital for a 15-day stay. With a fanny-pack full of antibiotics at her side, the Provo woman said the JAMA findings, which she had read, reminded her of the Nazi drive for a "pure Aryan race."
It's only been the past couple of years that Andrus' lungs have suffered enough to land her in the hospital. With a view of Salt Lake City covered in smog from her hospital window, she blames the valley's air. Utah's altitude can also hamper lung function.
Andrus, 52, has long surprised doctors, because she was given just a few years to live when she was born. Her sister, who died at age 40, also had cystic fibrosis.
Their experiences were different enough that Andrus, a grandmother who is studying to become a respiratory therapist, said the quality of a life with cystic fibrosis shouldn't be judged.
"There's just too much that's unknown to say, 'Yeah, this person has CF, and it's not worth the risk,'" she said.
Down the hall, Rex Andersen was one week into a two-week stay. On oxygen, the 19-year-old from West Point is hospitalized every three or four months. Because he has severe lung disease -- he has needed constant oxygen for a year -- he is waiting to see if he is a candidate for a lung transplant, which wouldn't cure the disease but could improve and extend his life.
He said parents shouldn't be afraid to have a child with the disorder.
"Just because I have cystic fibrosis doesn't mean I'm going to stop trying to be what I want to be or do what I want to do," said Andersen, who studies computer programming, takes karate classes and likes to hunt and fish.
"I hope to live to be into my 40s," he said, looking down. "I hope I even live longer than that. It depends on how far they come in the medical field. ...
"I sure hope I can have children one day."
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'I have a reason to live' -- Colin Thomas wasn't supposed to live long enough to have children, but the 26-year-old is the father of a newborn daughter, Elizabeth Clara. Because cystic fibrosis causes infertility among most men, Colin and his wife, Mandy, became pregnant using in vitro fertilization.
When he was born in 1983, Colin's parents were told his life expectancy was age 18 or 19. His mother, Beth Thomas, said she didn't listen. She said Colin was treated like his healthier brothers -- but there were times she imagined his death and wondered how it would affect his twin.
The family talked about death. She remembers watching "Old Yeller" and seeing Colin cry after the dog was shot because of rabies. "He said, 'I have a disease.' He's thinking, are they going to have to put me down?'"
His parents told him he would live as long as he was supposed to.
Beth Thomas decided to have another child, accepting the risks. "There's lots of worse things than cystic fibrosis. [Colin] could [have been] born into a family that didn't want him."
Colin refuses to see his disease as a death sentence. Instead, it has made his life better, he said, because he intimately knows every breath is a gift, every day an opportunity.
"It's not a matter of beating the disease," he said. "It's a matter of living every day to its fullest and being thankful for every single day that you have."
He expects to live to at least 60 and maybe 80. He takes care of himself. And now, with a wife and child, "I have a reason to live."
hmay@sltrib.com
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