Insights Into Undiagnosed Illness

Marianne Genetti

“Dr. Dave gave up his practice and was hospitalized at Shands Health Care inGainesville (Florida). “I went there to die,” he recalled as he withered to 119 lbs. News reports claim he may have been only 12 hours from death when a doctor noticed him on a gurney and observed that he had a metabolic disease. He had been misdiagnosed earlier with a rare wasting neurological disorder that had impaired his coordination and even his always-present vigor. He was expected to die. But tests at Shands confirmed that he was not suffering an exotic disease. He had pernicious anemia caused by a shortfall of vitamin B-12. He apparently lacks a protein that helps absorb Vitamin B-12. That is a treatable condition. Rehabilitation led to his return to his practice where he was for a while confined to a wheelchair.”

The above was excerpted from the Orlando Sentinel newspaper. It took Dr. Dave one year to recover from his close brush with death. Today he walks with forearm crutches because of damage to his nerves from the B-12 deficiency.

In theUnited States a rare disorder is deemed to be one which affects less than 200,000 people. The prevalence of pernicious anemia (B-12 deficiency) is estimated at more than 400,000. So if pernicious anemia is not that rare, why was it not diagnosed? And how could such a serious error have occurred?

There is no way of saying for certain. In general, however, medical doctors get minimal training in nutrition and in metabolic medicine. According to the job description of a doctor practicing metabolic medicine is to identify the areas of breakdown of the normal metabolic process and restore them to full functioning through supplying the missing nutrient or hormone. So if you are undiagnosed, is it possible that the disorder you are suffering with might be nutritional or metabolic? That is very possible.

There are some tests to screen for nutritional and metabolic disorders, but they can come at a cost. Medical insurance may not cover them. If insurance doesn’t cover tests, physicians sometimes don’t run those tests or, in fact, may not even mention that such tests exist.

Vitamins and minerals are needed for the food we eat to be properly metabolized. The food we eat is the raw material for building new cells. As with any construction project, the better the quality of the materials used, the higher the quality of the finished project. We, personally, are in charge of choosing the construction materials. If we do not choose wisely, we end up having to consult physicians to repair the problems caused by poor quality construction. Unfortunately not all doctors investigate inadequate nutrition or malnutrition as a root cause of illness.

When tests for vitamins are ordered, those tests are frequently quantitative tests. For example, the quantity of B-12 in the blood would be measured. The quantity of B-12 would then be compared against the B-12 levels of other people who were tested. The results of this test would identify what your B-12 levels are but would not indicate if those levels of B-12 are enough to meet your particular needs - or if you are metabolizing it effectively.
A ‘functional’ test determines if the substance is functioning as it should. One of the functional tests for B-12 is the measurement of methylmalonic acid (MMA).  B-12 is needed to convert MMA to another substance. MMA can be measured in the blood or in the urine. If MMA levels are elevated, it may be due to inadequate B12 or impaired metabolism of B12. Vitamin B-12 is just one of twenty or more micro-nutrients that are needed by the body to function and to heal.

How might you find out which vitamins/minerals you may be deficient in? There is a functional nutritional test that can determine the adequacy of over 40 nutrients with just two vials of blood. It is offered by the Spectracell company. ( Spectracell holds a patent on a broth in which human white blood cells will grow. Along with growing cells in the fully supplemented broth, the cells are also placed in broth from which various nutrients have been removed. If in the deficient broth they still grow at an acceptable rate, the nutritional reserves of that particular nutrient are deemed to be adequate. If not, supplementation of the deficient nutrient is recommended. The basic test (but not that for antioxidants) is covered by Medicare and by many health insurance companies.

There are also specialized metabolic tests that can be done via kits provided by various laboratories. One test that is especially telling is a test of the urine which measures organic acids. Organic acids are the by-products of metabolism/digestion. If a person is properly metabolizing food, there are certain organic acids, in specific amounts, that will be excreted into the urine. If the organic acids are elevated or deficient, there may be a metabolic problem. Two of the laboratories that specialize in functional testing are Metametrix ( and Great Plains Laboratory ( Medicare and other health insurance companies may or may not cover the cost of organic acid testing.

If your physician has not suggested this testing, why not? These types of ‘functional’ tests are more likely to be ordered by physicians who practice ‘functional medicine’. Functional medicine is personalized, science-based medicine that focuses on identifying the underlying causes of disorders rather than focusing on treatment of the symptoms. For more information and to find a functional medicine practitioner in your area visit the website for the Institute for Functional Medicine (IFM), (IFM is a 501(c)(3) non-profit.) Note: Dr. Oz recently featured four functional medicine physicians, whom he called his “Disease Detectives”on his TV program. A link to this appears on the IFM website.

If IFM does not show any physicians in your area, go to the websites for Spectracell, Metametrix and Great Plains. On each you will be able to enter your zip code to find physicians in your area who use those tests. Then check each physician on the web to find one who seems like a good fit.

For a different perspective on how your body works, how it becomes ill and how it heals, you may want to read the book Why I Left Orothodox Medicine:Healing For The 21st Century by Derrick Lonsdale, M.D. Dr. Lonsdale spent twenty years practicing at the Cleveland Clinic. Early in
his practice he found that some patients would not heal unless he also gave them vitamins. He then found that some patients would heal if he gave them only vitamins. The book, which is easy to read and interesting, was written in 1994. The author was then so far ahead of the curve, 95% of the information is still correct. It can be downloaded without charge from:

If you value knowing how nutrition affects the body, you may want to read the book Biochemical Individuality by Roger Williams, PhD, a clinical biochemist. The book was written in the 1950’s but its findings are just now being recognized for their importance. In part, Dr. Williams did studies on healthy people. In once case he found that one healthy person needed as much as ten times more vitamin A to maintain their health as did another.  That information differs greatly from the suggestion by the USDA that the minimum daily vitamin requirements for everyone is similar.

Marianne Genetti is Founder and Executive Director of In Need Of Diagnosis, Inc. (INOD), a
501(c)(3) non-profit, PO Box 536456, Orlando, FL 32853-6456; (407) or (888) 894-9190;; /.