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... The concluding part
WHATEVER
their symptoms, patients suffer from a single underlying
problem. By inheriting a mutant gene from each parent,
they are saddled with a defective protein that sits on
the surface of cells lining the lungs, airways and
pancreas. v The protein is supposed to maintain a proper
balance of salt and water, inside and outside the cells.
But instead, the salt concentrates in the cells, and the
mucus lining the airways becomes thick and sticky —the
bane of a patient’s life.
Over the
years, scientists have chipped away at the disease
through incremental improvements in therapies. There are
better antibiotics to prevent and treat infections and
new drugs to thin out the mucus. There are also enzymes
to compensate for chemicals the pancreas should make but
can’t.
Doctors
push medications more aggressively than before and
encourage patients to eat all the steak and dairy
products they want. “Studies found that patients who eat
higher levels of fat and more calories were actually
living years longer,” said Boyle.
But
therapies treat symptoms, not the defect that triggers
them. So patients generally still see their lung
function decline over time. The disease eventually
overwhelms them, and they die when their lungs cannot
deliver enough oxygen to the bloodstream.
At
Hopkins and other specialty centers, doctors are testing
a group of medications designed to make the protein work
correctly. Any one of them could represent the quantum
leap that doctors have so far found elusive.
“These
are interesting and good times to be in cystic-fibrosis
research,” said Dr. Craig Gerard, who treats patients
at Boston Children’s Hospital. “We now have drugs in
development that directly target the nature of the
disease.”
Meanwhile, patients are reaching milestones never before
thought possible.
James
Albright, 44, runs an International Baccalaureate
program at a middle school in Northern Virginia. There,
students barely take notice of an intravenous tube
carrying medications into his arm.
When
they married nearly 20 years ago, Albright and his wife
faced an uncertain future. “I was pretty up-front about
it,” he said. “If we could get five good years out of
it, it would be great. I couldn’t promise anything
beyond that. But married couples tend to live longer—my
goal is 70s.”
The
couple adopted three boys, including one with cystic
fibrosis. Men who have the disease are born with a
natural vasectomy, lacking the duct that carries sperm
from the testes, but they can conceive with reproductive
assistance.
Female
patients can also conceive —but they must consider
whether they can endure the rigors of pregnancy. And,
like adult males with the disease, they must consider
how long they’ll be around for the children.
“The
question isn’t whether you can; it’s whether it’s right
for you,” said Boyle. “It’s a hard question to ask of
someone who’s 28 years old and trying to live a normal
life. We try to be supportive but help them be
realistic.”
Jeff
Davis and his wife, Kim, had two in vitro babies—Gwynneth,
3, and Gunnar, who is seven months old. Kim had genetic
tests that determined she wasn’t a carrier, so there was
no chance the children would be afflicted.
They
live in a simple, split-level that overlooks a landscape
of rolling hills dotted with horses. Life at home seems
relaxed, despite the lingering knowledge that his health
isn’t assured.
“Is it
going to be a couple of years, or 20 years?” Davis said.
“Am I going to be there in their teenage years when they
need me? Am I going to be there to guide them? Am I
going to see [Gwynneth] get married?
“You
have to take it all into consideration, but you can’t
let it rule your life.” |
