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"When I was nine my grandmother heard from a friend about this clinic down in Mississippi on the Gulf Coast. So my mother and I flew down there in the winter because I was constantly up and down, sick some days, well the next — missed a lot of school. We went down to this miracle clinic where they gave you this elixir with arsenic in it; stayed there a week, must have been a very expensive thing. We came back and I started taking the miracle elixir; did that a few months and my parents noticed I was going bald — I was losing all my hair. So they stopped the elixir and miraculously my hair started growing back... I don't think it changed things much, the miracle elixir didn't do a whole lot, but it tasted horrible, I do remember that. It was pink and it tasted like the inside of somebody's tennis shoe. When I had to take that during the day it was like, oh no!! But I took it because I thought I was going to get better; none of us knew about CF. We were ignorant. We were babes in the woods."

— Bob Bourquin

* * *

Ellen Derner is 29 and works in a southeast San Diego kindergarten as a teacher’s aide. Her father shied away from the miracle elixirs, but 20 years ago, when she too was nine, he quit his job, sold everything that wouldn’t fit in the back of a U-Haul, loaded Ellen, her mother, and two sisters in the family car, left his native Montreal, and started driving south — to somewhere it didn’t snow. Ellen had spent the previous summer with an aunt in Florida, where the series of colds and the terrible, persistent cough which had prompted the desperate move seemed to have subsided. Florida was too humid though, so they drove west. When they reached Arizona, Ellen stopped coughing, but her mother didn’t want to live in Arizona and they continued on to Los Angeles. The smog in L.A. was unbearable so they again turned south, coming to a stop in San Diego.

“As it turns out, though,” says Ellen, “the climate doesn’t make any difference, and about a year after we got here I got sick again. It was diagnosed [falsely] as tuberculosis and I was bedridden for eight or nine months…they were pretty sure I was going to die. My parents regretted we’d left Canada then.” But they stayed, suffering through the unexplained illnesses and colds until a firm diagnosis was made when she was 19.

At that time she went to University Hospital, where a test was performed in which a weak electrical current and a special chemical were applied to her arm, causing a small area of skin to sweat. After careful collection and measurement, it was determined that her sweat contained an abnormally high amount of salt; the test was positive. However, her insurance plan required that she go to another hospital for treatment, and there she was retested three times, each time with a negative result. However, she was somewhat dubious about their technique. “They put my whole body in a plastic bag with just my head sticking out the top and waited for me to sweat so they could collect and measure it.” But it could have been worse, according to Ellen. “They used to wrap kids in wool blankets and make them run around the hospital.”

She herself never doubted the outcome of the tests. “I knew I had all the symptoms. So I finally went back to University and paid to have it redone.” Positive again. She had cystic fibrosis.

* * *

The disease first appeared in the scientific literature in 1936 as congenital cystic pancreatic fibromatosis and bronchiectasis syndrome, a mouthful of a name that basically meant doctors were finding some very sick babies with a puzzling combination of symptoms previously thought unrelated: chronic lung infection in patients who also developed fibrous and cystlike scarring of the pancreas. By 1938 researchers were satisfied that the strange combination was caused by a single disease and they trimmed the name to fibrocystic disease of the pancreas, but still not a lot was known about it. Doctors were telling mothers, “We don’t know why it is, but these babies all follow the same pattern. You can’t find any food to agree with them, and then they get pneumonia and die.” When the accepted name became cystic fibrosis a few years later, the disease had become distinguished, said one textbook, “for the frequency with which it was correctly diagnosed for the first time at post mortem.”

A more useful method of diagnosis was developed as a result of observations made during a New York City heat wave in 1948. As is common during a heat wave, hospital emergency rooms began filling up with victims of heat stroke brought on by excessive salt and fluid loss. A pair of doctors noted that a curiously high number of these persons seemed to have cystic fibrosis and they began wondering why. It was soon discovered that the sweat of these patients contained up to ten times the normal amount of salt — explaining the high incidence of heat stroke and also forming the basis for a diagnostic test.

Yet it is unfortunate that the sweat test Ellen Derner described is so often incorrectly done, because it is the only conclusive test for an incurable and poorly understood disease. Cystic fibrosis (CF) occurs in one-fourth of the offspring from two parents who carry the genetic trait; it is the greatest genetic killer of young people in this country, with as many as 1 out of every 20 Caucasians believed to carry the gene. Such carriers are not affected by the disease, however, and since they show absolutely no symptoms, cannot be identified; despite the highly promising work of several researchers, at the moment the only sure way of identifying a carrier of CF is by working backward: the parents of a child with CF must carry the gene.

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