WASHINGTON — Doctors always said allergies and asthma were behind
Laura Mentch's repeated lung and sinus infections. Only when she turned
50 did she discover the real culprit — a disease notorious for
destroying children's lungs.
Mentch is part of the gradual graying
of cystic fibrosis: More and more patients are surviving into
adulthood, some even to middle age and beyond.
Now, researchers
are taking a close look at the first group to make it past age 40 with
this incurable genetic disease, as a much-needed guide for patients and
doctors on what to expect.
And they're finding CF is even more
complicated than thought. Consider Mentch: The Bozeman, Mont., woman is
part of a small but growing subset of patients not diagnosed until
adulthood — patients long assumed merely to have a mild version of the
disease that, in its classic form, can quickly attack lungs.
Not
so, contends Dr. Jerry Nick of National Jewish Health in Denver, home of
one of the largest adult CF treatment centers. He studied how more than
3,000 long-term survivors fared, both at his center and using data from
patients included in the Cystic Fibrosis Foundation's national registry
over 15 years. He found that once their disease revs up, those
diagnosed as adults can deteriorate as quickly as those diagnosed
younger.
"It's not really mild CF, it's delayed CF," says Nick,
whose study was published last month in the American Journal of
Respiratory and Critical Care Medicine.
If so, his findings may
have ramifications for babies as well. How? In recent years, every state
has begun screening newborns for cystic fibrosis, so that patients can
start life-extending treatment before that first infection ever hits.
But
doctors are having trouble determining if a fraction of those babies
really will develop CF or not, because they harbor less common genetic
mutations than the classic type linked to early, severe disease.
"We're
struggling with this," says Dr. Bruce Marshall of the Cystic Fibrosis
Foundation, which issued guidelines in December recommending such
children be closely monitored for signs of disease as they grow. "At
this point, we really don't know exactly what to do with these folks."
Those
less common mutations are the same ones Nick says he's seeing in
people, like Mentch, whose CF wasn't diagnosed until adulthood.
"This
says you shouldn't dismiss it" in the babies with those ambiguous test
results, Nick cautions. "This is not the classic CF of 30 years ago."
About
30,000 Americans, and 70,000 people worldwide, are living with cystic
fibrosis, caused by inheriting a flawed CF gene from each parent. The
disease causes a sticky mucus to build up in the lungs, clogging them
and leading to life-threatening infections. It also clogs the pancreas
so the body can't properly digest food.
Only a few decades ago,
children with CF seldom survived elementary school. Today, thanks to
earlier diagnosis and improved treatments, 47 percent reach 18 or older.
Most of the 400 deaths a year are among teenagers and young adults,
according to the CF Foundation's registry.
So far, just over 5
percent of patients in the registry have made it beyond age 40 —
although Nick's study suggests some who seek care outside that network
aren't counted — and babies diagnosed today are expected to live into
their 50s.
Beyond the adult-diagnosed phenomenon, Nick found
patients who'd battled CF since childhood and bear the highest-risk gene
type survived, too, showing there's still lots to learn about factors
that play a role. While the adult-diagnosed of course lived the longest,
anyone who made it to 40 had a good chance of surviving another decade.
Nick's
main message: Proper care during adulthood fights the lung damage. Yet
regardless of when they were diagnosed, Nick found, fewer than half of
long-term survivors are treated at the nation's specially designated CF
centers once they pass 40 — while those who do fare better.
Mentch's
lung function greatly improved after the right diagnosis got her the
right treatment, ending regular bouts of bronchitis she'd experienced
since her teens.
"It's not OK to have bronchitis twice a year and
think it's normal, but that's ... how I walked through life," says
Mentch, now 57, who was diagnosed only when a doctor tested her sputum
and found a type of Pseudomonas bacterium trapped in her lungs, a red
flag for CF.
Now Mentch travels to the Denver CF clinic four times
a year to stay on top of her care, which includes inhaled medications
and a chest-vibrating vest to clear airway clogs. As the disease
progresses, she says, "I have a huge responsibility to take care of
myself."