Fighting a good fight against a bad gene

[Guest guest]

<PRE>Wow! Torstenkraft...what an ExCelLenT...(bravo! I'm cheering can ya hear

me?!) article!!! I am SO very glad that someone printed this and thank you

Immensely!! for sharing this with us! :-)

[Guest guest]

The San Diego Union-Tribune

January 20, 2003, Monday

HEADLINE: Fighting a good fight against a bad gene

BYLINE: Jane Brody; © New York Times News Service

More than 10 million people in this country carry in all their cells

one copy

of a defective gene that regulates the movement of sodium, chloride and

water in

and out of cells.

These people are, on the surface, perfectly healthy, but when two such

carriers of this defective gene have children, they have a 25 percent

chance

that each child will inherit an abnormal gene from each parent and, as a

result,

will be born with cystic fibrosis.

The result of a defective protein, cystic fibrosis is a chronic,

progressive

and ultimately fatal disease that clogs the lungs and pancreas with

thick,

sticky mucus.

About 30,000 people in the United States have cystic fibrosis, the

most

common life-shortening genetic disease among Caucasians worldwide. It

occurs in

1 in 3,300 live births among whites, with a lower incidence in other

racial

groups. The incidence is highest, 1 in 2,500 births, among descendants

of

Northern European whites and Ashkenazi Jews.

Gene mutations

How has such a lethal gene survived the throes of evolution? Just as

carriers of the sickle cell gene have a survival advantage because their

abnormal gene offers some protection against malaria, some scientists

believe

that carriers of the cystic fibrosis gene were better able to survive the

often

fatal diarrhea caused by cholera.

At least 800 different defects, or mutations, are known to occur in

this

critical gene, which causes a cell to create a protein called the cystic

fibrosis transmembrane conductance regulator, or CFTR.

Different mutations cause different disruptions of the regulator's

role, and,

as a result, different degrees of severity of cystic fibrosis.

The most common mutations disrupt the movement of CFTR from its point

of

origin to its site of operation and cause a severe and ultimately fatal

disease.

New treatments

As recently as 25 years ago, most children born with cystic fibrosis

died in

early childhood and few survived to their teen-age years. Today, most

can

expect to live past 30. Many finish high school and college, get jobs and

have

families.

The difference stems from productive research, the results of

persistent

fund-raising efforts and pressure from parents, who established the

Cystic

Fibrosis Foundation in 1955.

The research led to an understanding of the way cystic fibrosis causes

life-threatening damage through a chain of events that involves damaged

genes,

abnormal tissues and malfunctioning organs.

This understanding, in turn, has led to the development of preventive

techniques and treatments that can attack every stage of the disease

process.

New treatments now in development promise even further gains.

Some experts predict that within a decade, the lung damage from cystic

fibrosis will be limited by periodic gene therapy in children and young

adults.

Better yet, some say, will be the application of techniques already

technically feasible to correct the defect genetically even before a

child is

born, or soon enough afterward to prevent tissue damage. Only then might

researchers begin to talk cautiously of a cure.

New antibiotics

Meanwhile, a host of therapies to forestall complications have become

the

focus of survival for patients with cystic fibrosis.

Respiratory physical therapy done two or more times a day to loosen

the

thickened mucus, enabling it to be coughed up, is essential to

maintaining the

ability of the lungs to transfer oxygen and carbon dioxide.

In years past, clapping on the chest, back and sides was the only

method.

Now the job can be done by inhaled nebulizers, vibration vests and a

flutter

device that is blown into, freeing a patient from daily dependence on a

lay or

professional therapist.

Because the thickened mucus is a breeding ground for bacteria,

antibiotics

are another critical factor in maintaining pulmonary health. With mucus

coating

the small airways in the lungs, the hair cells are unable to clear out

invading

bacteria.

The trick has been staying ahead of the ability of micro-organisms to

develop

resistance by continually finding new antibiotics to which they are still

susceptible.

The potentially deadly infections mean frequent hospitalizations for

many

cystic fibrosis patients. Some have a central line implanted to aid in

the

frequent administration of antibiotics.

Malnutrition is a constant risk because ducts clogged by mucus are

unable to

move digestive enzymes to sites where food is broken down and absorbed.

Thus, enzyme-packed pills to aid digestion and fat-soluble vitamin

supplements (A, D, E and K) are other daily requirements for maintaining

the

health of people with the disease.

Stamina and support

Another problem is consuming enough calories to compensate for the

effort

expended in breathing with congested lungs.

Dehydration is yet another risk because the defective gene causes an

abnormal

absorption of sodium, dehydrating the lungs and making them more

susceptible to

infection. So people with cystic fibrosis have to be even more devoted

to water

bottles than aerobics instructors.

Experts on cystic fibrosis emphasize two other important factors in

coping

with the illness: building and maintaining physical stamina and obtaining

psychological support for patients and their families.

The stronger people are, physically and emotionally, the better able

they are

to handle the complications and treatments for the disease.

But eventually, despite the best therapy available, the lungs of

people with

cystic fibrosis become too damaged to sustain life. When that critical

time

appears on the horizon, a growing number of patients seek a double-lung

transplant, an operation as risky as a heart transplant.

Both lungs are needed to prevent the transplanted one from becoming

diseased.

When kidneys fail, dialysis can substitute for kidney function, but

nothing

similar exists for the lungs.

Lung transplants

There is no telling when lung failure will occur, necessitating a

transplant.

For some, like Stefanie , it happened at age 11. For Charlie

Tolchin, it

was 28. For Maggio, it was 40.

About 3,700 patients are on a lung transplant waiting list nationwide.

But

each year only about 1,000 receive transplants. The problem stems from

an acute

shortage of viable organs and a limited number of medical centers with

staff

members skilled at the procedure.

The lungs have to be big enough to sustain the recipients. For some

patients

who are small, it is possible to use part of the lungs from two live

donors,

usually relatives.

The operation is expensive and risky: 5 percent of patients do not

survive

it. Three years after a transplant, 62 percent of the patients are still

alive.

The main problem is chronic rejection, which can occur despite the

constant use

of complication-prone immune-suppressive drugs. One complication is the

development of lymphoma, a cancer of the lymph system that can be fatal,

as it

was for Maggio at 49.

Those seeking more information or referrals to cystic fibrosis care

centers

throughout the country can contact the Cystic Fibrosis Foundation at 6931

Arlington Road, Bethesda, MD 20814, by phone at , or check

the

foundation's Web site, www.cff.org.

[Guest guest]

---Wow that is a wonderful article, thanks so much for posting it. I

am sending it on to my family, so they may better understand Amber's

illness.

Margo, mother of Amber, 13 w/cf

In cfparents , " Torsten Krafft " <Torstenkrafft@w...>

wrote:

> The San Diego Union-Tribune

>

> January 20, 2003, Monday

>

> HEADLINE: Fighting a good fight against a bad gene

>

> BYLINE: Jane Brody; © New York Times News Service

>

> More than 10 million people in this country carry in all their

cells

> one copy

> of a defective gene that regulates the movement of sodium,

chloride and

> water in

> and out of cells.

>

> These people are, on the surface, perfectly healthy, but when

two such

> carriers of this defective gene have children, they have a 25

percent

> chance

> that each child will inherit an abnormal gene from each parent

and, as a

> result,

> will be born with cystic fibrosis.

>

> The result of a defective protein, cystic fibrosis is a chronic,

> progressive

> and ultimately fatal disease that clogs the lungs and pancreas with

> thick,

> sticky mucus.

>

> About 30,000 people in the United States have cystic fibrosis,

the

> most

> common life-shortening genetic disease among Caucasians

worldwide. It

> occurs in

> 1 in 3,300 live births among whites, with a lower incidence in

other

> racial

> groups. The incidence is highest, 1 in 2,500 births, among

descendants

> of

> Northern European whites and Ashkenazi Jews.

>

> Gene mutations

>

> How has such a lethal gene survived the throes of evolution?

Just as

> carriers of the sickle cell gene have a survival advantage because

their

> abnormal gene offers some protection against malaria, some

scientists

> believe

> that carriers of the cystic fibrosis gene were better able to

survive the

> often

> fatal diarrhea caused by cholera.

>

> At least 800 different defects, or mutations, are known to

occur in

> this

> critical gene, which causes a cell to create a protein called the

cystic

> fibrosis transmembrane conductance regulator, or CFTR.

>

> Different mutations cause different disruptions of the

regulator's

> role, and,

> as a result, different degrees of severity of cystic fibrosis.

>

> The most common mutations disrupt the movement of CFTR from its

point

> of

> origin to its site of operation and cause a severe and ultimately

fatal

> disease.

>

> New treatments

>

> As recently as 25 years ago, most children born with cystic

fibrosis

> died in

> early childhood and few survived to their teen-age years. Today,

most

> can

> expect to live past 30. Many finish high school and college, get

jobs and

> have

> families.

>

> The difference stems from productive research, the results of

> persistent

> fund-raising efforts and pressure from parents, who established the

> Cystic

> Fibrosis Foundation in 1955.

>

> The research led to an understanding of the way cystic fibrosis

causes

> life-threatening damage through a chain of events that involves

damaged

> genes,

> abnormal tissues and malfunctioning organs.

>

> This understanding, in turn, has led to the development of

preventive

> techniques and treatments that can attack every stage of the

disease

> process.

>

> New treatments now in development promise even further gains.

>

> Some experts predict that within a decade, the lung damage from

cystic

> fibrosis will be limited by periodic gene therapy in children and

young

> adults.

>

> Better yet, some say, will be the application of techniques

already

> technically feasible to correct the defect genetically even before

a

> child is

> born, or soon enough afterward to prevent tissue damage. Only

then might

> researchers begin to talk cautiously of a cure.

>

> New antibiotics

>

> Meanwhile, a host of therapies to forestall complications have

become

> the

> focus of survival for patients with cystic fibrosis.

>

> Respiratory physical therapy done two or more times a day to

loosen

> the

> thickened mucus, enabling it to be coughed up, is essential to

> maintaining the

> ability of the lungs to transfer oxygen and carbon dioxide.

>

> In years past, clapping on the chest, back and sides was the

only

> method.

>

> Now the job can be done by inhaled nebulizers, vibration vests

and a

> flutter

> device that is blown into, freeing a patient from daily dependence

on a

> lay or

> professional therapist.

>

> Because the thickened mucus is a breeding ground for bacteria,

> antibiotics

> are another critical factor in maintaining pulmonary health. With

mucus

> coating

> the small airways in the lungs, the hair cells are unable to clear

out

> invading

> bacteria.

>

> The trick has been staying ahead of the ability of micro-

organisms to

> develop

> resistance by continually finding new antibiotics to which they

are still

> susceptible.

>

> The potentially deadly infections mean frequent

hospitalizations for

> many

> cystic fibrosis patients. Some have a central line implanted to

aid in

> the

> frequent administration of antibiotics.

>

> Malnutrition is a constant risk because ducts clogged by mucus

are

> unable to

> move digestive enzymes to sites where food is broken down and

absorbed.

>

> Thus, enzyme-packed pills to aid digestion and fat-soluble

vitamin

> supplements (A, D, E and K) are other daily requirements for

maintaining

> the

> health of people with the disease.

>

> Stamina and support

>

> Another problem is consuming enough calories to compensate for

the

> effort

> expended in breathing with congested lungs.

>

> Dehydration is yet another risk because the defective gene

causes an

> abnormal

> absorption of sodium, dehydrating the lungs and making them more

> susceptible to

> infection. So people with cystic fibrosis have to be even more

devoted

> to water

> bottles than aerobics instructors.

>

> Experts on cystic fibrosis emphasize two other important

factors in

> coping

> with the illness: building and maintaining physical stamina and

obtaining

> psychological support for patients and their families.

>

> The stronger people are, physically and emotionally, the better

able

> they are

> to handle the complications and treatments for the disease.

>

> But eventually, despite the best therapy available, the lungs of

> people with

> cystic fibrosis become too damaged to sustain life. When that

critical

> time

> appears on the horizon, a growing number of patients seek a double-

lung

> transplant, an operation as risky as a heart transplant.

>

> Both lungs are needed to prevent the transplanted one from

becoming

> diseased.

>

> When kidneys fail, dialysis can substitute for kidney function,

but

> nothing

> similar exists for the lungs.

>

> Lung transplants

>

> There is no telling when lung failure will occur, necessitating

a

> transplant.

> For some, like Stefanie , it happened at age 11. For Charlie

> Tolchin, it

> was 28. For Maggio, it was 40.

>

> About 3,700 patients are on a lung transplant waiting list

nationwide.

> But

> each year only about 1,000 receive transplants. The problem stems

from

> an acute

> shortage of viable organs and a limited number of medical centers

with

> staff

> members skilled at the procedure.

>

> The lungs have to be big enough to sustain the recipients. For

some

> patients

> who are small, it is possible to use part of the lungs from two

live

> donors,

> usually relatives.

>

> The operation is expensive and risky: 5 percent of patients do

not

> survive

> it. Three years after a transplant, 62 percent of the patients

are still

> alive.

> The main problem is chronic rejection, which can occur despite the

> constant use

> of complication-prone immune-suppressive drugs. One complication

is the

> development of lymphoma, a cancer of the lymph system that can be

fatal,

> as it

> was for Maggio at 49.

>

> Those seeking more information or referrals to cystic fibrosis

care

> centers

> throughout the country can contact the Cystic Fibrosis Foundation

at 6931

> Arlington Road, Bethesda, MD 20814, by phone at , or

check

> the

> foundation's Web site, www.cff.org.