Metabolic Disorders: Living with Cystic Fibrosis

Less than 30 years ago, cystic fibrosis was not even recognized as a distinct disease. It was regarded as a relative ly rare and puzzling inherited disorder of the pancreas, which for some un known reason caused the lungs to fill with an unusually thick viscid mucus. Today doctors know a lot more about “C.F.”, enough, in fact, to give it the unenviable reputation of being one of the most common long-lasting disorders of children, and one of their major kill ers. As a cause of death, reports Dr. Paul A. di Sant’-Agnese of the National Institutes of Health, cystic fibrosis outweighs poliomyelitis, diabetes and rheumatic fever combined. It is now clear, says Dr. di Sant’-Agnese, that C.F. affects far more than the pancreas and lungs. It involves the sweat glands, of which there are about 2,000,000, and also the salivary glands. In fact, it is through an excess of salt in the sweat that C.F. is most readily diagnosed, and confirmation is usually found in the saliva. C.F. is inherited through a recessive gene, so both parents must be carriers for a child to be afflicted. Even then, only one in four of their children, on average, will be victims. Dr. di Sant’-Agnese estimates that there are anywhere from 4,000,000 to 9,000,000 carriers in the U.S., and that one child in every thousand is born with the disease. Hair & Fingernails. The first good news about C.F. came in the late 1940s with the introduction of several potent antibiotics. Virtually all C.F. victims have permanent staphylococcal infections,’and many have other persistent infections as well. The bacteria soon become resistant to any one drug, so treatment requires several antibiotics in a variety of combinations. The next breakthrough was early diagnosis by the sweat test (TIME, Aug. 5, 1957) and later modifications utilizing hair and fingernail clippings. Early diagnosis allows prompt treatment before the lungs are irreparably damaged; it also permits prescription of a protective diet. For very young children, this involves a marked restriction of fats, plus doses of pancreatic enzymes (derived from swine) to replace the body’s deficiency. An important recent finding, says Dr. di Sant’-Agnese, is that as the children get older, these diet restrictions become less important and may be relaxed. In the teens, only moderate fat restriction is usually necessary. One of the most effective new treat ments for clogging of the lungs is inhalation of a mist containing a wetting and detergent agent, N-acetylcysteine (Mead Johnson & Co.’s Mucomyst). Many young patients get along well if they sleep, and perhaps lie down for a while during the day, in mist tents. In somewhat more severe cases, they inhale the mist under gentle pump pressure (TIME, Nov. 22, 1963). But in the most severe cases, this still is not enough. In St. Louis, Dr. Herman W. Reas and Dr. Paul R. Hackett put such patients under a general anesthetic, then inserted a bronchoscope through the mouth and windpipe into the bronchial branches and poured the solvent chemical directly into the clogged areas. They removed the loosened mucus by suction. “Within 48 hours these children are eat ing like horses and running around,” says Dr. Hackett. Hormone & Growth. Other doctors who have tried the technique are not nearly so enthusiastic. At Boston Children’s Hospital Medical Center, Dr. Harry Schwachman has done 33 washing-out procedures, with benefits lasting up to a year, but he feels it is still only a help, and no final answer. Optimistic claims have also been made for the administration of a synthetic hormone, similar to testosterone, to speed up the C.F. victim’s metabolism. But some doctors complain that improvement after the treatment is mainly superficial and usually shortlived. There is the disadvantage that after a brief growth spurt, a child may be permanently stunted because the hormone shuts down the epiphyses (growth ends) of long bones. Beyond such controversy, the most encouraging news about C.F. is that the combined effect of all the treatments has helped a great many patients to live past adolescence into young adult life. What makes Dr. di Sant’-Agnese and fellow workers in the field happiest is that seven young women with C.F. have borne ten children and, as was hopefully predicted from the recessive nature of the responsible gene, all their offspring are normal.