INOD In The News..                                                   

Jane's fingers now shake to the point that she can't type. She is tired. At times her belly swells suddenly -- then just as suddenly, subsides. She thought there was hope when in March 2008, ABC News wrote an article about her undiagnosed case and published it on their Web site. There were many comments posted in response to the article, but none contained a glimmer of hope regarding a diagnosis. Jane can no longer work, no longer has health insurance, no longer has savings and no longer has income. She has twice been denied social security disability.

Jane is one of many who are undiagnosed. There may be physicians who can rival the ability of television's "Dr. House" when it comes to diagnosis, but there is no way to find them. There is no category for "Diagnosis" under the yellow page listings for physicians, because at this time there is no such specialty. 

Our nation's medical system is wonderful at crisis care but does not have a good record when it comes to diagnosis. According to the College of American Pathologists (CAP), in 2005, less than 3 percent of public health care dollars are spent on diagnostics.  Why is it that something as common as lung cancer is often not found until it is Stage IV? The same applies to other cancers as, for example, ovarian. Screening tests are available, but few are covered by health insurance and therefore are not routinely done.

In October 1998 the Journal of the American Medical Association (JAMA) published an article entitled, "Low-Tech Autopsies in the Era of High-Tech Medicine." Autopsies are, in effect, the quality control of medicine. It makes clear if the diagnosis given before death was correct. George Lundberg, M.D. then Editor of JAMA, who was the author of the article, stated "The autopsy rates for hospital deaths at non-teaching hospitals nationally average below 9%; many hospitals have autopsy rates at or near 0% despite many deaths." He cited a 1998 study from the University of Pittsburgh that showed a 44.9% discordance between the diagnosis given before death and that revealed by autopsy. Of that percentage, two thirds of the patients had illnesses that could have been treated had the illness been correctly diagnosed. In a conversation in November 2008, Dr. Lundberg, who is now Editor in Chief of The Medscape Journal of Medicine, said that "the use of autopsies has declined to the point that it is difficult to find a pathologist to do a private (ordered by the family) autopsy."

Some patients aren't diagnosed because physicians don't recognize the signs and symptoms of a known disorder. In other cases, the disorder is unknown. Such was the case when AIDS emerged in San Francisco in the early 1980's.  It was first named, "Gay Related Immune Deficiency" (GRID). Then, just a few years later, it was found that this disorder was neither rare nor isolated.  It was a worldwide pandemic affecting different races, ethnic groups, ages and sexes. It was then re-named, "Acquired Immune Deficiency Syndrome."
 
Parkinson's became a recognized disorder in 1817 after the publication of "An Essay on the Shaking Palsy" by James Parkinson, M.D. Now, almost 200 years later, there are people suffering from Parkinson's who are undiagnosed. There are no diagnostic scans or laboratory tests for diagnosing Parkinson's and since symptoms vary widely from person to person these frequently go unrecognized as being caused by Parkinson's.
 
Advances in science are bringing to light, medical disorders that have been previously unknown. Toxins in the environment and changes in the diet are causing new disorders.  In an article entitled, "What Role Has Nutrition Been Playing in Our Health?" Jeffrey Bland, PhD, FACN, noted that Super Size Me movie eater, Morgan Spurlock, felt aggressive and restless after eating three fast food meals a day for several weeks. Mr. Spurlock not only gained weight but his metabolism changed for the worse and he felt that he was becoming addicted to the food.

Dr. Bland states, " --- foreign molecules included in foods that have developed over the past five decades may serve as substances that alter cellular signaling and produce a different effect in the body than substances that humans traditionally consumed before the advent of food processing."
 
Medical schools teach aspiring physicians, "If you hear hoof beats, think horses, not zebras". But there are zebras. They are the rare disorders. In the United States, a rare disorder is one which afflicts less than 200,000 people. The number of recognized rare disorders has recently increased from 6500 to over 7000. Though each of those disorders may be rare, rare disorders as a whole are becoming more common. Some disorders as autism and multiple sclerosis which were once rare are now too common.
 
A primary care physician who has a patient with a complex, undiagnosed disorder, will refer that patient to specialists. Specialists are now specializing within specialties. Hematologists, for example, may do only chemo therapy. Neurologists may focus only on the treatment of Alzheimer's or on movement disorders. So each specialist provides only a small piece of the puzzle. There is no one now in the medical system who has the time, or the expertise, or who is charged with the responsibility of putting together, the pieces of a complex diagnostic puzzle. It is like a symphony orchestra with no conductor.

It is understandable that some of the more rare disorders might not be recognized by the family physicians, internists, pediatricians and gerontologists, the only 'generalists' in the medical system. These illnesses are, after all, rare. It is not reasonable to expect any doctor to commit to memory the myriad of symptoms and symptom patterns associated with 7,000 rare disorders. On the other hand, it is not reasonable to expect a person's health and quality of life to be dependent on human memory -- not even on a physician's memory.

Medical diagnostic software is a developing technology that could be helpful to physicians in sorting through patient symptoms and the disorders with which they might be associated. As of 2005, the latest year for which figures could be found, it was estimated that less than 2 percent of the physicians in the United States were using this technology.

A 2006 report said that despite the sophisticated diagnostic tools available, "Studies of autopsies have shown that doctors seriously misdiagnose fatal illnesses about 20 percent of the time" and "…the rate (of incorrect diagnoses) has not really changed since the 1930's…" The Journal of the American Medical Association looking at the history of diagnosis concluded "No improvement!"

For those with a rare disorder, it can take years, a lifetime, or death, to obtain an accurate diagnosis. Sufferers go from doctor to doctor hoping one will recognize a defining symptom. When the disorder continues to elude diagnosis, physicians, family and friends who had been supportive initially, may begin to question the validity of the person's complaints. At that point, support is withdrawn and the afflicted individual finds themselves abandoned socially and emotionally as well as medically.
 
In a free market economy, it should be the consumer who ultimately determines the nature, quantity and quality of goods and services provided. We, the people, are the consumers of medical services. We need to make clear to the medical system the type of medical services that are desired and required.  Physicians as well as patients are disadvantaged under the present system. Physicians who have patients with complex disorders involving multiple body systems have no colleagues to whom they may refer these patients for diagnosis.
 
There is a great, unmet need in the medical system for a specialty in the field of medical diagnosis. Clifton K. Meador, M.D., former Dean of the University of Alabama-Birmingham School of Medicine, professor of clinical medicine at Vanderbilt and currently Executive Director of the Meharry Vanderbilt Alliance, has focused a large portion of his medical career on diagnosis. Several of the eleven books he has written pertain to diagnosis as Symptoms of Unknown Origin and Puzzling Symptoms (www.PuzzlingSymptoms.com). Dr. Meador has always been interested in trying to "fix what is wrong with medicine." He agrees that the creation of a diagnostician pathway in medicine is overdue. He also believes that the introduction of this specialty may be resisted because "most medical doctors consider themselves to be diagnosticians."

In the meantime, many people have died because they were diagnosed incorrectly or they were diagnosed too late or they were not diagnosed at all. Many of those who are living are being treated for diseases they don't have and are not being treated for diseases that are slowly killing them. This situation must change.

The above article was written by Marianne Genetti, Executive Director of "In Need Of Diagnosis, Inc. (INOD)", a 501(c)(3) non-profit. INOD's mission is to promote changes in the medical system to improve the timeliness and accuracy of medical diagnosis and to provide help and support to those who are in need of diagnosis. For additional information, visit INOD's web site at: www.INOD.org; or Email: Meg@INOD.org; or Phone: (407) or (888) 894-9190.

 

 

 

2. Article from Times Leader newspaper in Wilkes-Barre, Pa. - May 20, 2008  

http://www.timesleader.com/living/20080520_20_genetti_dz_biz_ART.html

Woman’s foundation helps those ‘In Need of Diagnosis’

DAWN ZERA Times Leader Correspondent