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Undiagnosed & Rare Disease
What is an undiagnosed or rare disease?
An undiagnosed disease is considered to be a medical condition that eludes diagnosis. A rare disease is a disease afflicting fewer than 200,000 individuals in the U.S.
My Personal Experience:
I have personally struggled for years with symptoms ranging from fatigue, dizziness, and weakness, to an unusual blood clotting problem...and although I have undergone extensive testing and met with numerous specialists as well as alternative-minded doctors, I remain without a definitive medical diagnosis. Doctors believe it is possible that the condition I am dealing with is so rare it has not yet been identified by medical science. For years I thought I was alone in my suffering, but I was wrong. Since Heal With Hope's inception I have heard from many people who have a host of difficult and disabling symtpoms, and who struggle to find the answers and cures they have thusfar eluded them. Though medical science has made great progress in dealing with more common illnesses like cancer and heart disease, there has not been the same time or resources to devoted to understanding illnesses like autoimmune and genetic disorders. But there are hopeful signs that things are beginning to change...
For those who are suffering with an illness that had eluded a medical diagnosis and/or has not been helped by traditional or alternative treatment, don't despair! There has been some encouraging progress on this front recently and hopefully those who have been "silent sufferers" the medical community may finally be paying attention to those whose illnesses have defied medical know-how and knowledge to date.
Finding Help:
Marianne Genetti, is the founder of INOD, In Need Of Diagnosis, Inc., and is working to assist people who are struggling with undiagnosed or rare diseases. INOD is a non-profit organization whose mission is to promote changes in the healthcare system to facilitate prompt and accurate diagnosis of medical disorders, especially rare disorders, as well as to provide help and support. If you have an illness that has eluded diagnosis and would like more information about INOD call them at 888-894-9190. You can also visit their website at www.inod.org, or email them at inod@inod.org. Marianne also contributed an informative article, Insights Into Undiagnosed Illness, for the September 2009 Heal With Hope Guest Columnist feature,see below for a reprint of this article, or visit our Guest Columnist Archives.
Marianne recently informed me about an exciting program now offered by the NIH's (National Institute of Health) Office of Rare Diseases called Undiagnosed Disease Program. Each year the NIH accepts 50-100 cases for evaluation and consultation. You do need to be referred by a physican, but from the information I reviewed it does not appear that the other requirements are very restrictive. You will find more information about the National Institutes of Health Office of Rare Diseases and the Undiagnosed Disease Program, as well as information about Advocacy Groups, Research & Clinical Trials, Reports & Publications, and much more at their website: http://rarediseases.info.nih.gov or by calling 1-866-444-8806. You can also go directly to the NIH Clinical Center website:http://clinicalcenter.nih.gov.
Another site I discovered that provides information about commonly misdianosed or rare diseases is www.wrongdiagnosis.com. The site enables you to search for a disease by symptom, as well as has a Forum where you can communicate with other people who might be dealing with a similar situation.
*For resources and information about undiagnosed disease in children visit www.friendsofsydney.org. This website was created by a father whose 4 year old daughter is living with a debilitating undiagnosed illness. The site is very well done and does include some additional resources.
Insights Into Undiagnosed Illness
by Marianne Genetti, the founder of In Need of Diagnosis
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The following excerpt is from a recent article in the Orlando Sentinel newspaper about a young medical doctor who was mistakenly diagnosed with a rare neurological disease, but just hours before his death it was determined that he had pernicious anemia (an inability to use Vitamin B-12) :
“(Dr. D.) gave up his practice and was hospitalized at Shands Health Care in Gainesville (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. That is a treatable condition. Rehabilitation led to his return to his practice where he was for a while confined to a wheelchair.”
In the United States a rare disorder is deemed to be one which affects less than 200,000 people. The prevalence of pernicious anemia (B-12 deficiency) in the U.S. 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?
Well, there is no way of saying for certain. In general, however, medical doctors get minimal training in nutrition and in metabolic medicine. According to Medical Library.net* 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 metaboloic disorders, but they may come at a cost as medical insurance considers many of these to be ‘experimental,’ and do not cover them, therefore some vital tests may not be performed. Also, when a physician orders a quantitative test, like that for B-12, it measures the quantity of B-12 in the blood and the results are compared against the B-12 levels in the blood of other people, but this does not necessarily indicate if that quantity is enough to meet your needs, or if you are able to metabolize it. 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. B-12 is needed to convert methylmalonic acid to succinyl-CoA. If levels of methylmalonic acid are elevated, it can mean that either B-12 is deficient or is not being properly metabolized. Methylmalonic acid can be measured in the blood or in the urine. But B-12 is not the only essential vitamin/micro-nutrient that can be a factor in undiagnosed illness.
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. And unfortunately not all doctors consider this as a root cause of illness.
In order to be your own health advocate, how do you know which vitamin/minerals to supplement? There is a functional nutritional test that can determine the adequacy of over 20 nutrients with just one vial of blood. It is offered by the Spectracell company. (www.Spectracell.com) 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 grow at 55% of the rate they grew in the enriched broth, they are deemed to have an adequate supply of the missing nutrient. If not, supplementation of the deficient nutrient is recommended. The basic test (but not that for anti-oxidants) is covered by Medicare.
There are also various types of 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 their food, there are certain organic acids, in certain amounts, that will be excreted in the urine. If the organic acids are elevated or deficient, it suggests a problem. Some of the labs that do organic acid testing are Metametrix (www.Metametrix.com) and Great Plains Laboratory (www.GreatPlainsLaboratory.com). Check with Medicare as they may not cover the cost of organic acid testing, but there are some health insurance companies that do.
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 science-based, personalized medicine that deals with primary prevention and underlying causes instead of symptoms for serious chronic disease. Functional medicine uses the patient’s story as a key tool for integrating diagnosis, signs and symptoms, and evidence of clinical imbalances into a comprehensive approach to improve both the patient’s environmental inputs and his or her physiological function. For more information and to find a practitioner in your area visit the Institute For Functional Medicine (IFM) website, www.FunctionalMedicine.com. (They are a 501(c)(3) non-profit.)
* (http://www.cureresearch.com/p/pernicious_anemia/stats-country.htm), http://www.medical-library.net/content/view/60/40/
Marianne Genetti is Executive Director of In Need Of Diagnosis, Inc. (INOD) a 501(c)(3) non-profit. www.INOD.org
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