By John Morgan, Spotlight Health
With medical adviser Stephen A. Shoop, M.D.

Former NFL quarterback and CBS football analyst Boomer Esiason knows that

there's no bigger moment in all of pro football than playing in the Super Bowl. But Esiason would gladly give up his NFL legacy if he could emerge victorious over a far greater adversary - cystic fibrosis (CF).

"My son Gunnar was diagnosed with cystic fibrosis in 1993," says Esiason, who played for both the Cincinnati Bengals and the New York Jets. "For ten years now it's been a fight. It's a fight that we've raised over 25 million dollars for. But more importantly, CF families around the country know they have a face or a person they can count on to advocate for their rights."

CF is a life-shortening genetic disease that affects more than 30,000 US children and young adults. A defective gene causes the body to produce abnormally thick, sticky mucus that clogs the lungs and obstructs the pancreas, preventing important enzymes from facilitating the proper digestion of food. The thick mucus is also difficult to clear from the lungs and leads to life-threatening infections.

Symptoms of CF vary but often include:

• Salty-tasting skin
• Persistent coughing, at times productive of sputum
• Frequent sinus and respiratory infections
• Wheezing or shortness of breath
• Excessive appetite but poor weight gain
• Frequent, foul-smelling stools and diarrhea

Because many of the symptoms can be mistaken for other less serious illnesses, early diagnosis can be difficult.

"Doctors sometimes think CF is asthma or allergies or a viral infection," Esiason cautions. "As parents, you're predisposed to want to think it's the least severe illness and you hope that it is. It is critically important that parents seek out well qualified doctors and hospitals that know what to look for."

CF is most often diagnosed by a sweat test that measures the salt concentration in the sweat.

"Normally the concentration would be in the teens," explains Dennis Nielson, Director of the Cystic Fibrosis Center at the University of California, San Francisco. "A child with CF generally has a concentration above 60 and many are 90 to 100. It is very dramatic."

Nielson says diagnosis is also made through genetic testing. "We look for a series of mutations," Nielson says. "There are over 1000 mutations that cause CF. The DeltaF508 mutation accounts for about 70% of all the mutated genes in Caucasians."

Winning Strategies

When it came to properly diagnosing Gunnar, the first hospital the Esiasons visited fumbled.

"Gunnar was misdiagnosed when he was one, which is frustrating because he could have gotten treatment a year earlier," says Esiason, who before his son was born had been involved in CF fundraising since 1986. "You can call Gunnar's having CF irony or destiny but it is a personal crusade and I expect us to win this fight."

Esiason is not alone in that fight.

Upwards of 10 million people are estimated to carry the defective gene that causes CF. When two CF 'carriers' conceive, there is a 25% chance that their child will be born with CF and a 50% possibility that the child will be a carrier.

"I am a big believer in genetic testing," Esiason says. "Before you have kids, I think people should consider finding out where they stand. If you're Jewish, you'd likely think about Tay-Sachs testing. If you fit into the risk group for CF, which is primarily northern European descent, why wouldn't you get tested to see if you carry the gene? It's a very easy test."

Esiason also recommends that parents take their children to an accredited CF Center for both diagnosis and treatment, which can give patients a chance for longer lives. Nielson reports that in the 1960s, the median life-span was about four or five years. In recent years, life expectancy has increased to around 34 years.

"Early diagnosis is important because in infants we follow their growth carefully because of the digestive problems associated with CF," Nielson notes. "We give them replacement therapy, using pancreatic enzymes, every time they eat. It doesn't completely correct the problem, but it does allow them to better digest food."

Children with CF also undergo chest x-rays at least once a year as well as pulmonary function tests, called spirometry, to measure lung function.

Best Defense

"The mainstay is still using antibiotics to fight frequent infections," Nielson says. "Inhaled tobramycin is an antibiotic that fights a particular kind of bacteria that infects CF patients. It is typically inhaled twice a day for four weeks, followed by four weeks off and then four weeks on."

Another breakthrough drug is Pulmozyme, which was developed specifically for CF. This medication breaks down extracellular DNA, making the mucus less sticky and thick so it can be coughed out more easily.

Other CF therapies include:

• Chest physical therapy, which involves pounding the back vigorously to loosen and clear the lungs of mucus
• Inhaled anti-inflammatory steroids like Pulmicort or Flovent
• Bronchodilators that help keep airways open and move mucus up the airway
• High dose ibuprofen to reduce inflammation and spare the lungs from being constantly broken down by the body's response to chronic infections

"Since Gunnar's diagnosis, in the last 10 years three drugs have come from the test tube to the patient to deal with the main symptom of the disease, which is fighting the bacterial infections in the lungs," Esiason states. "Gunnar is significantly better because of those drugs and that has given us great hope."

But one disappointing strategy so far has been gene therapy. Despite the CF gene being discovered in 1989, gene therapy has proved elusive due to technical barriers.

"The really exciting new developments are some pharmaceuticals that will actually correct the defect," Nielson reports. "In the next five to ten years we will have therapies where a patient can take a pill that will actually go in and correct the defect everywhere in their body. It's not a cure, but a non-toxic pill that you can take once or twice a day that makes all your cells work right is the next best thing to a cure."

Now 12, Gunnar takes enzymes and, like most CF patients, several additional medications which Esiason credits with vastly improving his son's health. He's playing hockey and lacrosse and was elected student body vice president.

But Gunnar's good health is also bittersweet.

"I realize that every day that I hear him cough and every day he gets closer to his 13^th birthday he's only 20 years away from the average life-span of a CF patient," Esiason says. "So it is very, very real to me because I confront the realities of the disease every single day. But I also see the inspiring stories too and that's what keeps me going. I honestly believe that the future of CF is extremely positive and it will be cured and that ultimately it will be eradicated from the planet."

To reach the Boomer Esiason Cystic Fibrosis Foundation, click here.

To reach the Cystic Fibrosis Foundation, click here.

Spotlight Health is the leading creator of celebrity-featured health-issue awareness campaigns, connecting consumers with impassioned celebrities whose personal health battles can open eyes, dispel myths and change lives. Spotlight Health helps sufferers and caregivers meet the challenges of difficult health circumstances with understandable, in-depth medical information, compassionate support and the inspiration needed to make informed healthier choices.

Created: 2/13/2004  -  John Morgan & Stephen A. Shoop, M.D.
Reviewed: 2/13/2004  -  Donnica Moore, M.D.