drmargaret

One of the most stressful things that can happen to someone is to get sick, go to a doctor, and have the doctor not be able to determine what is wrong with you. As the illness continues and worsens the physician can often get overwhelmed followed by multiple referrals to specialists or a referral to a mental health practitioner.

I come from a family with unusual medical conditions. My first atypical illness literally began at birth and resulted in my first adoption being rescinded and a week’s stay in a neonatal intensive care unit. Six months later and weighing a pound less than my birth weight I was pronounced fit for adoption and sent home with an unsuspecting couple.

Over my lifetime I’ve had four illnesses which have gone undiagnosed for months to years. The most recent event started January 13, 2007 and I was finally diagnosed on June 7, 2007 almost six months later.

What I want to talk about in this post is how anyone can cope when faced with this type of situation in themselves or in a loved one. The first thing to do when a disease has no diagnosis after a couple of weeks or so and is not responding to systematic treatment, is to put together a list of all the symptoms of the illness for the doctor. Put this on the left half of a piece of paper and give each symptom a few lines of blank space under it. On the right side note what makes that symptom better or worse. Get copies of every laboratory test done and get a basic medical book such as the Merck Manual and look up every laboratory abnormality noted in the tests. Make a list of every medication tried, the dose of the medication used, and the length of time of the trial. This list should include every single medication prescribed, and foods used as medicine, any herbs, any vitamins, any supplements, and anything you are “borrowing” from friends, family or buying on the street including any illegal drugs, tobacco, beer, wine, hard liquor. To this list add foods such as grapefruit, onion, garlic, ginger, and orange juice. These foods can have an impact on the effectiveness of medication. A food diary, of everything consumed, may also be helpful.

Start with the symptom list. On a fresh piece of paper list every illness you can find that has that symptom associated with it. You can use the computer to search by symptom and disease. Make a list of all diseases associated with the symptoms for all the symptoms.

Move to the medical test abnormalities. On a fresh piece of paper list all the abnormalities and all diseases associated with the symptoms. Do this for all the abnormal test results.

Move to the medications, over-the-counter products and foods. Put down all the side effects known to occur with the products. Most medications come with patient hand-outs to explain side effects. The Physician’s Desk Reference or the Pill Bible, or The Physician’s Desk Reference for Herbs or Supplements can assist.

Since you now have lots of information, start looking for diseases that are repeated in the lists. When I do this with patients I find it helpful to have them get a package of different colored highlighters. Highlight each disease with a specific color when it occurs three times in the list.

When these lists are created there is too much information and most of the information will end up being irrelevant. As more tests are being done or more treatments are being tried, it gets easier to see specific diseases that are either being ruled out or starting to be ruled in by how often they are showing up on the lists.

I usually start this process when I’ve been sick for at least a couple of months or the symptoms are severely worsening. While I’m doing this process I also get involved in either chronic illness chat rooms or psychological support chat rooms. This is an anxiety producing process. People going through this feel very nervous. Inevitably there are fatal illnesses and not treatable illnesses or poorly understood illnesses on the lists. Reading about difficult and painful ways of dying can be depressing. Psychological support can be very helpful during this time. A visit to a professional psychologist may also be able to help.

When you come up with multiple lists that have a specific disease or two, then you would want to ask your treating doctor about testing or treating you for that specific disease or two. You can choose to share your lists with your physician or simply put down all the symptoms, lab tests, medications, foods that lead you to come up with the disease you are interested in investigating further.

Let’s say you have neck pain. It gets worse when you exercise. It gets better when you lie down, but not when you are completely flat, just sort of reclining. The neck pain is accompanied by chest pain or a feeling of discomfort sometimes but not all the time. The first time you saw the doctor, they thought you might have strained a muscle and suggested some over-the counter pain medication. Over time, nothing has improved and the chest pain now is moving more into the center of your back and you need to lie down more often. Lab tests show your blood pressure is elevated, you have elevated cholesterol, you have some problems with inflammation. You have no problems with glucose. The doctor ran a special test to check for arthritis and did an x-ray. Those came back normal. Your list showed that neck, back and chest pain, elevated blood pressure, and elevated cholesterol are all consistent with heart problems. Okay, time to go back to your doctor to ask about testing for heart problems. If those tests show heart problems you can get treatment. If not, you can go back to your lists. Doing this process is likely to come up with a diagnosis eventually in conjunction with your doctor.

Now a word about doctors. There are some doctors who think that they need to manage the illness, treatment, and understanding themselves without patient input. If you have a doctor that will not assist you in helping to get a firm diagnosis, or work with you on developing a treatment plan, you may want to consider getting a different physician.

This strategy is helpful in working with many rare, unusual, or hard to diagnose illnesses.

As for me, my condition should improve with treatment and may resolve completely. My condition is unusual for someone my age, or my ethnic background so it hadn’t been considered by my doctor. The symptoms clearly pointed to a diagnosis. It was just a matter of ruling out most of the common place things I was more likely to have, then moving on to the weird but possible illnesses. It was then that the illness showed in tests. The research I did also allowed me to understand possible treatments. I brought in 12 pages of treatment protocol for my doctor and he thought that treatment might prove very effective. I started treatment last week.