Battling a Killer

A Dallas physician works overtime to treat victims of cystic fibrosis, one of the most deadly of childhood diseases.

Dr. Robert Kramer is something ot a pediatric Santa Claus. He specializes in the wisecrack and administers it frequently to small, critically ill patients. They depend on him for life, and he searches his black bag daily for another medical trick or toy to keep them smiling. Parents gaze at the short, slightly rotund gentleman with impeccable gray-flecked beard and ubiquitous pipe and tell you quite seriously that he’s the best doctor in the world.

But the bonhomie, more often than not, is feigned. As director of the cystic fibrosis center in Dallas, Dr. Kramer is not a happy man. In fact, he says what he’d like more than anything in the world is to lose his job, return to his native New England and play tennis.

He’s not likely to make that trip soon. Not until either a cure or a successful treatment for cystic fibrosis is discovered will he quit, and scientists are not close to either.

“This is not happy medicine,” he says in a disquieting moment of seriousness. Until recently most children died before the age of 10 from CF (as it is called at the center), and now life expectancy is about 18 years. All that doctors can do is help control disease symptoms, an arduous proposition in itself.

“It takes a relentless, ongoing, therapeutic regime to keep kids in a state of reasonable good health,” says Kramer. Symptoms never disappear and those children who do live beyond their teens must take medication and treatments for the rest of their lives.

Cystic fibrosis affects one in every 1.500 children. “An awful lot of people don’t realize this,” says Dr. Kramer. He is puzzled that most people know more about muscular dystrophy and multiple sclerosis, for instance, than about CF, which is much more common than either.

The name, admittedly, is peculiarly undescriptive to the layman, and discovery of the disease was relatively recent (1938), but beyond this, he fears publicity efforts have not been vigorous enough. “Our efforts have mainly been toward patient care and research. We’ve probably suffered by turning inward,” he said.

Cystic fibrosis is particularly insidious because it can attack and destroy – or at least cripple – every organ system in the body (except the urinary tract). “As a teaching model, to be able to care for a cystic fibrosis patient produces the complete pediatrician,” says Dr. Kramer.

Its -modus operandi is baffling. All the mucus-producing glands in the body suddenly become sorcerer’s apprentices, churning out superfluous amounts of a glue that clogs highways throughout the body. Normally mucus functions as a detergent to flush away the body’s dirt and smog, but CF mucus brings this traffic to a halt. It waylays vital enzymes traveling to the digestive tract to break down food into a digestible form. The food is thus free to go at breakneck pace through the intestines without being absorbed, leaving the children simultaneously malnourished and ravenous. Constant bulky diarrhea is the most obvious symptom of the malfunction.

In the lungs mucus loiters quietly, if left on its own, breeding bacteria, infection, pneumonia and ultimately death. “The lungs are basically a oneway street,” Dr. Kramer explains. “We can’t flush out the mucus in the bronchial tubes because they end in air sacs contiguous to blood vessels. It’s impossible to keep the lungs totally free of mucus.”

Symptoms include wheezing, persistent coughing, recurrent pneumonia, excessive mucus (looking like green toothpaste), nose polyps and enlargement of the fingertips (a mysterious adjunct which doctors have not been able to link directly to the mucus).

Unfortunately cystic fibrosis is often mistaken for other illnesses which mimic its symptoms, such as acute asthma, chronic bronchitis, childhood emphysema and some allergies. However, a painless, half-hour “sweat test” to determine salt levels in the sweat now permits fool-proof and early diagnosis. Only CF patients have these unusually high salt concentrations – 20 to 30 times normal levels.

Doctors hope the next crucial discovery will be a test to identify CF gene carriers. Both parents must be carriers for a child to inherit CF, and there is a one in four chance for each pregnancy that the child will be afflicted. Obviously a carrier test will give potential parents a weighty role in determining the number of new CF victims. Scientists are also working on a universal birth test, such as the one given for PKU.

Treatment of the disease is aimed primarily at clearing mucus from the lungs, aiding digestion and preventing dehydration. Much of it can and must be done at home.

A machine called an ultra-sonic nebulizer shoots a very fine mist into the lungs that keeps the mucus moist and mobile. The mist looks like cigarette smoke and an extra opening is added to the mouthpiece for small patients so they can pretend to puff on a pipe and blow smoke rings.

Foul smelling but effective drugs to dilate the bronchial tubes are also used regularly (breathed through an apparatus resembling airplane oxygen masks), along with chest physiothera-phy – clapping sharply with cupped hands (or vibrating machine) on the back and chest to loosen mucus and promote coughing. When done by an amateur these treatments can be slightly painful, but in the hands of experienced therapists they feel like a good massage. “The kids gripe about them, but they really come to look forward to them,” said one therapist – reputedly the best “masseuse” on the hall.

Patients are put on low fat, high protein diets and given enzyme pills and vitamins daily to replace those trapped by mucus. They are also encouraged to stay indoors during very hot weather to prevent dehydration and sun strokes.

The Dallas cystic fibrosis center, one of the largest in the US, is open each Thursday and now serves about 400 children with severe lung diseases, over 300 with CF. Some patients have traveled from as far away as Alaska to be treated by Dr. Kramer, considered an international authority on the disease.

The responsibility that goes with this notoriety is formidable, and Dr. Kramer feels it acutely. “When you’re the authority in your part of the country, you can’t turn to anyone who knows more about the disease than you,” he says. “The burden, when you run out of therapeutic tricks and when you have to turn off the ventilator that’s sustaining a child’s life, is a tough thing to take. It’s the frustration of being a super-specialist but still running out of things to do.

“It’s tough to keep your balance when you’re dealing only with fatal or semi-fatally ill children. It’s a big downer when devastating things happen. We’ve had three funerals in the last two weeks.

“But,” and he brightens a little here, “we’ve got our job to do and, if I may say somewhat immodestly, we know more about it than anyone else around and we’re doing what we can.”

The debilitating nature of his job becomes apparent during a visit to the cystic fibrosis center on the fourth floor of Children’s Medical Center.

In one small room, pale, wraithlike children, many looking half their age, file in to test their breathing skills on a machine known as a pulmonary performance analyzer. They hold what looks like a small microphone with a cardboard cylinder in one end and blow into it as hard as they can. The machine records the strength of the breath (and by extrapolation the lungs) in liters. A healthy, non-smoking observer tried the test and registered over three and a half liters. Some of these children could muster no more than a half a liter.

The atmosphere at the center is not cheerful, but more pleasant than might be expected. As one young therapist pointed out, many of these children consider the other patients some of their best friends, and most smile and joke about their tests, albeit amid wracking coughs. One little girl, who had had one lung removed and been in the hospital for a year with a spinal infection, sat on an examination table grinning widely as Dr. Kramer joked with her mother. “Next to my own mother, I think this lady here loves me more than anyone in the world,” he said, and then poked his patient. “Gosh, I wish I was as skinny as you are.”

CF patients frequently develop related illness, including diabetes, cirrhosis of the liver, joint pains, severe sinus infections and hemorrhaging. One 12-year-old girl, no more than four and a half feet tall, who has acute CF and diabetes, administers her own daily insulin injections, her mother said proudly.

The center must provide much more than medicine to these children, says Dr. Kramer, because ramifications of the disease are myriad.

“There is a tremendous amount of divorce, desertion, social and financial problems in CF families,” he says. “So a doctor has to be a psychiatrist, financial advisor and empathetic friend. You have to consider the effect on the non-affected siblings, too.”

To aid him in this multifarious occupation, Dr. Kramer has a secretary to handle insurance problems, a social worker, parent education nurse, home care coordinator, respiratory and physical therapists, dieticians and nutritionists.

The financial burden alone is overwhelming for many families. “A severely affected child who has pulmonary and intestinal complications – and 85 to 90 percent do – has to spend $400 to $500 a month,” he said.

The implications of prolonged but ultimately unsuccessful treatment do not escape Dr. Kramer.

“We’re producing a generation of chronically ill adults, most of whom are uninsurable and most of whom are unemployable, because most employers hire on the basis of the ability to show up at a desk every day, not necessarily on talent. Treatments are time consuming and have to be done on a regular basis or they’re useless. Obviously patients will have to miss a lot of time at work. We’re generating these problems through the excellent care we’re giving – which is terribly frustrating.”

There are moments of elation, however. “When you get an invitation from a youngster you’ve been treating who’s graduating from high school or getting married or doing anything outstanding – one who’s outlived his illness – those are the rewards,” he says.

Greg Stanert, a dauntless high school tennis star from Rockwall High School, has been a real prize for Dr. Kramer. Diagnosed at the age of two and a half as a CF victim, Greg is now 18, plays tennis two to five hours a day in the blazing sun and works as a waiter (14 hours a day on occasion) at a local yacht club.

You have to pry the admission that he has a disease out of him; he’d rather talk about tennis. “I may start breathing hard before somebody else would, but I can last as long as anyone else too,” he says.

Evidently. He has won several regional and state tennis trophies and plans to attend Stephen F. Austin State University on a tennis scholarship in the fall.

His only big hassle is colds.

“Colds!” he says with a grimace. “Geez, I get colds so easy. I step out of the house and I get a cold.” He said he went through three and a half boxes of Kleenex (his yardstick for severity) during his last one and has decided the culprit, water skiing, will have to go. “For three nights, no sleep,” he said.

He takes enzyme pills daily, gets flu shots yearly and suffers severe coughing spells. But he obviously doesn’t feel shackled by the disease. In fact, he seems to push himself much harder than most people to prove he’s not sick. “He’s a driver,” say his parents. “He just keeps going on and on.”

Greg is well aware of his good fortune. “I’ve seen some of the really bad-looking kids at the center, and I know I’ve been lucky,” he says. He’s solidly built, a bit below average in height and has a healthy, freckled face. If he worries about the fatality rate for his disease, he doesn’t show it.

His parents say they answered all questions about the disease as he asked them. “We never tried to keep him from seeing any literature about the disease,” said Mrs. Stanert, “and we think he’s happier because of it.”

Progress on the disease has been slow, partly because scientists have failed to induce CF in laboratory animals, but they have been able to detect certain abnormalities in the saliva, blood, urine and sweat of CF patients and, to a lesser extent, CF carriers. They have also found that CF cells appear to perform normal cellular functions, such as incorporating amino acids, in an unusual manner.

The immediate goals of the Cystic Fibrosis Foundation are to raise more money for research and to increase awareness of disease symptoms. “If the disease is recognized early in life, we can help control symptoms,” said Dr. Kramer, “and the person can live a fairly happy, fairly productive life.”

Speaking of productivity, when Dr. Kramer is not shuttling between the cystic fibrosis center, his students at Southwestern Medical School and his private office (which also has a considerable caseload), he is at home trying to relax.

Ask him about his family and he immediately takes a picture off the shelf in his office of his four beautiful and healthy little girls. The contrast between them and his 300 other children at the center could not be more striking.

As he slowly puts the picture back or the shelf, you know he’s probably thinking he’ll never make that trip to New England.

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