[-- Editor's Note: Sadly, Paul Moss passed away as of January 28th, 2000. His article remains in its original form, with the exception of the attribution at the bottom, which has been updated accordingly. --] Rare disease still claims too many victims by Paul Moss "Weg what ...?" That's a reaction all too familiar to people suffering from Wegener's Granulomatosis (WG for short) when they try to explain to friends, colleagues and acquaintances what's wrong with them. The reaction of ignorance and puzzlement is understandable, perhaps, among ordinary citizens possessing just the average comprehension of things medical. More difficult to understand and excuse is the fact that too many doctors are either unaware of or inadequately informed about this rare and potentially fatal disease, six decades after it was first described by German physician Dr. Friedrich Wegener in Breslau, and more than 40 years after the establishment of criteria for diagnosing WG. The sad result is that too many patients are still dying, or experiencing major organ failure and other serious health problems, because their doctors and/or specialists failed to make an accurate diagnosis in time to begin effective treatment. Early detection and intervention with powerful drugs is absolutely vital. Little wonder, then, that some Wegener's patients who have been denied that prompt medical response see themselves as hapless victims of a neglected orphan disease, a form of vasculitis that has yet to receive the serious attention it deserves from medical science. The American Hospital Association has designated Oct. 5-11 as Wegener's Granulomatosis Awareness Week. Never was "awareness" more urgently needed for any illness. While the death toll from this disease is relatively small and only a fraction of the toll from, say, AIDS and various forms of cancer, the tragic truth is that most of those fatal outcomes could and should have been prevented. There isn't the excuse of a shortage of medical expertise and meager resources, as there would be in undeveloped countries. The pervasive tragedy in the United States, Canada and other Western countries is that while there is still no cure for WG, it need not be a killer or an organ destroyer because it is an eminently treatable disease. Doctors and specialists must make an effort to learn more about the disease so that they will be able to recognize and draw the appropriate and timely conclusions from its weird assortment of symptoms. Wegener's is a form of vasculitis (inflammation of the blood vessels) and an autoimmune disease, in which the body's immune system attacks its own tissues. There is no known cause for the disease but it is not contagious, and there is no evidence to suggest that it is hereditary. About 90 per cent of patients show signs of a "cold" or painful "sinusitis" that fail to respond to the usual therapeutic measures and last considerably longer than the usual upper respiratory tract infection. Other symptoms can (but do not necessarily) include ear inflammation with associated hearing problems, eye problems ranging from mild conjunctivitis to severe inflammation of the eyeball and surrounding tissues, breathing difficulties, nose bleeds, a cough with or without bloody sputum, persistent fever, drenching night sweats, skin lesions, nasal membrane ulceration and crusting, so-called saddle-nose deformity (in which the nasal cartilage is destroyed), joint pain, fatigue and loss of appetite and weight. One of the greatest concerns for anyone suffering undue delay in diagnosing this disease is renal failure with all that that entails, inclduing dialysis and the prospect of a kidney transplant. But bleak though this picture may seem to any healthy person, it is immeasurably brighter for WG patients than it used to be. As recently as the mid-1980s and the advent of a special diagnostic test called ANCA (Anti-Neutrophil Cytoplasmic Antibody), more than 80 per cent of patients died within a year or two of develoiping the disease. Today, early diagnosis enables a patient to be treated with such powerful drugs as prednisone, cytoxan (cyclophosphamide) and methotrexate. These medications often achieve and maintain remission, with symptom-free intervals of five to 20 years or more. Conversely, delay in treatment, which still occurs far too often, may lead to irreversible organ damage. On average it takes five to 15 months to make a WG diagnosis. But incredibly, in 10 per cent of cases a diagnosis takes five to 15 years. What causes WG? To date there are vague theories but no one really has a clue. What is known is that the disease can occur at any age, although 85 per cent of patients are above age 19, and that it affects males and females about equally. Wegener's strikes most often between the ages of 40 and 50. Interestingly, 97 per cent of all patients are Caucasian while only 2 per cent are Black and 1 per cent are of another race. The disease is certainly uncommon. According to one estimate, WG strikes one is every 30,000 to 50,000 people. Only about 500 new cases are diagnosed each year in the entire United States. But the Wegener's Granulomatosis Support Group, founded in 1986, believes such statistics may be misleading inasmuch as they reflect not so much the rarity of the disease as the fact that it is rarely diagnosed. The group largely owes its existence, and continued growth and achievements, to Marilyn Sampson, 64, a former Registered Nurse in Platte City, Missouri, who became ill with WG in 1977. Although the upper part of her right lung was removed then the disease was not diagnosed until 1981, four years later. By then Marilyn had developed saddle-nose eformity with severe sinus involvement, joint pain, hearing loss with severe vertigo and vomiting, and double vision. Her hearing impairment forced her to quit her nursing job. Because she knew only too well the sense of isolation that accompanies WG, and the gut fear of having a disease that no one seemed to have heard of, Marilyn decided to form a support group with two other Wegener's patients (Vivian Muellner and Ann Limeres) whom she met at the Mayo Clinic. >From those modest beginnings 11 years ago, the group has grown to nearly 2,00 members. And since its Internet debut in 1996, complete with a website, mailing list and "real time" chat group, it has been growing at the rate of about 70 members per month. The WG Support Group has received inquiries from patients, specialists and clinics in Africa, Australia, Canada, England, Ireland, France, Germany, Italy, Greece, Mexico, The Netherlands, New Zealand, Norway, Puerto Rico, Scotland, Sweden, South Africa and every state in the Union. The support group dispenses valuable information about the disease, its symptoms, treatment methods and research programs, offering most patients the opportunity to learn far more about the whole subject than they ever would from their own doctors or local resources. Equally important, though, the group provides moral and psychological support and understanding. As Marilyn eloquently puts it: "We want to give hope to each individual to fight and not give up. We want them to know and believe they can survive. "We understand what each is going through and what they are saying. We want to be there: a shoulder to cry on, an ear to listen, strength when they are down, and to give them a strong, positive outlook." By her inspirational example and her indomitable personal fight against this disease, Marilyn Sampson has given hope and encouragement to thousands of Wegener's sufferers. Truly, she is a remarkable person. So that's it, people. Sorry to be so long-winded. Please look out for and correct any typos. It's way past my bedtime and I am not exactly alert. Cheers, Paul Paul Moss was a Canadian journalist who lived in Victoria, British Columbia. He was diagnosed with Wegener's in July, 1996, and died from a stroke on the 28th of January, 2000, after suffering a year of ill health.