How to Solve Your Undiagnosed Medical Disease or Condition

1
Solving Your Undiagnosed Medical Condition

An patient with an undiagnosed condition.
An patient with an undiagnosed condition. Kathleen Finlay/Getty Images

Many patients are frustrated by the fact that they cannot seem to obtain a diagnosis, a name for their medical problem. They experience symptoms, they accumulate test results, they can't find relief, and they often become angry because it's very clear that something is wrong with their health, but no one can provide a name for their problem. It's a mystery.

If you have been undiagnosed for any period of time, here are some ideas and approaches that may help you and your doctor determine a diagnosis.

A few basics to keep in mind before you begin:

  1. Not every set of symptoms has a diagnosis.​​
  2. Some diagnoses are so new that some doctors don't know how to diagnose them yet.
  3. Your diagnosis detective work will require that you employ all those good, empowered patients' tools: be sure you ask plenty of questions, get copies of all your medical records, adhere to decisions you and your doctor make together, and more.

Once you embrace those basics, there are some approaches that may help you solve your diagnosis dilemma:

  • Pursue Second Opinions
  • Log Your Symptoms and Triggers
  • Uncover Possible Drug Conflicts
  • Consider Environmental Sources
  • Coordinate Communication
  • Consider Rare Diseases
  • Look Into the NIH's Mystery Diagnosis Program
  • Consider Alternative Resources

2
Get a Second Opinion

Getting a second opinion.
Getting a second opinion. Portra Images/Getty Images

Perhaps the most important, but also the most obvious, approach to getting your diagnosis is to seek a second opinion (or even third or fourth opinion).

Be sure you include opinions from doctors of varying specialties. Not all specialists understand the body systems or diseases outside their own. Ovarian cancer might present itself as a gastrointestinal problem, so undiagnosed gastrointestinal problems may require a gynecologist. PCOS may present itself as thyroid-related.

Your opinions should also come from a variety of resources. In particular, avoid doctors who practice together or who may be friends outside the office or hospital. Friends and colleagues may be less likely to disagree or contradict each other.

The professionals who work in academic medical centers (university-related hospitals) may be good sources for solving your diagnosis dilemma because their personal professional goals are sometimes better aligned with your needs.

3
Use Differential Diagnosis

Doing Internet research.
Doing Internet research. Blend Images - Hill Street Studios/Getty Images

Using the process of differential diagnosis, look for alternatives. Begin with the least common symptom you experience and look at all the possibilities that your least common symptom might suggest. If none of the alternatives on that list proves to be the right answer, then try the same process with your next least common symptom, and so forth.

Here's how to develop your differential diagnosis.

Your doctor will be able to help you determine what your differentials are for each symptom, or you can do Internet research to determine them, too. You may also want to consult with people in your support groups.​

Also be sure you are looking at diagnoses your doctor may not know much about, but may make perfect sense if you raise the possibility. For example, dysautonomia is sometimes considered a diagnosis, and sometimes considered a cluster of symptoms, but it can help explain many problems, and may provide some ideas for treatment.

4
Keep a Log of Symptoms and Triggers

Keep a journal.
Keep a journal. Cultura RM/Flynn Larsen/Getty Images

If you can determine when your symptoms first began, make a note. If you can determine what triggers their appearance, track that. If you can determine something you can do that alleviates them, write that down, too.

Are your symptoms affected by what you eat or drink? Are they more problematic in different kinds of weather, or when you participate in specific kinds of activities? Do they only appear along with other symptoms, too? Are you particularly stressed or tired when they appear? Consider tracking your weight, too, since sometimes weight fluctuations can affect symptoms.

Even if it doesn't seem plausible, you'll want to track every bite of food you take or beverage you drink. Example: gluten sensitivities or food allergies could be revealed through your tracking, and those are both problems that can cause odd symptoms.

Also track any substance you apply to your skin. Skin lotions, soaps, sunscreen -- when you apply them to your skin, you are affecting the largest organ in your body and they absorb through to your inside organs and body parts. There could be ingredients in them that affect your health. (See environment below.)

If you aren't sure whether you should track something, then that's an indication you should track it. Better to err on the side of too much information than not enough. Trust your intuition to tell you whether a symptom is, indeed, a symptom.

Share your log with your doctor and discuss other possible aspects of your symptoms that might provide additional information, too.

5
Identify Drug Conflicts

Identifying drug conflicts.
Identifying drug conflicts. Jose Luis Pelaez Inc/Getty Images

Be sure to track every drug you take, including any supplements you swallow or apply. Drug conflicts and interactions may cause symptoms or mask others.

It's possible your doctor has ruled out a diagnosis because you don't exhibit the classic symptom for it -- but your classic symptom is actually being masked by a drug you are taking. Learn more about drug conflicts and interactions.

6
Determine Possible Environmental Sources

Determine possible environmental sources.
Determine possible environmental sources. Busà Photography/Getty Images

Your symptoms may be caused by your environment. It may be worth your while to try to track your symptoms against other people who live in your vicinity. Explain your problems to your neighbors and ask if they know of others who have similar problems. Look online to see if your local newspaper has a health reporter that might set up a local health-related place to share information.

Among the information to track (see step #4) might be any changes in your symptoms if you travel to someplace else where the environment changes. If you travel, determine if your symptoms get better or worse, or perhaps don't change at all. Include that information in your log or journal.​

7
Coordinate Communication

Communication between doctors.
Communication between doctors. Thomas Barwick/Getty Images

Getting to the bottom of your diagnosis means your various doctors and others need to coordinate with regards to communication and decision-making. This care coordination is becoming more and more difficult as doctors are squeezed even tighter for time. If your doctors are not communicating with one another, you'll want to see whether you can convince them to do so.

8
Consider Rare Diseases

A mystery diagnosis could be a rare disease.
A mystery diagnosis could be a rare disease. David Sacks/Getty Images

The simple fact that it has taken so long for you to get an accurate diagnosis indicates the possibility that you have a rare disease.

Not all rare disease names will turn up, not even as you work through your differential diagnosis, because, unfortunately, it may be so rare that it doesn't even have a name yet. Or, it could just be a diagnosis that your doctor doesn't know much about, so he or she won't mention it because they can't answer questions about it.​

The best information about rare diseases may come from the Rare Diseases section of the National Institutes of Health or this Rare Diseases site.

9
Consider the NIH's Mystery Diagnosis Program

The National Institutes of Health.
The National Institutes of Health. Mark Wilson/Getty Images

In the United States, the National Institutes of Health, in collaboration with the Office of Rare Diseases Research, accepts 50-100 patients per year to study their mystery maladies. There are specific rules that need to be followed by your doctor to refer you to the program. There is no promise of a diagnosis, but certainly the information produced may help you get closer.​

10
Consult Alternative Resources

Using alternate resources.
Using alternate resources. PhotoAlto/Eric Audras/Getty Images

Three alternative resources might be able to lend you a hand:

Professional Patient Advocates can help in two ways: First, they help coordinate your efforts, making sure that everyone involved has knowledge of all the corners of discovery that are important. Second, they have knowledge of resources and professionals you won't have, and can often make suggestions you haven't thought of. They are privately paid by you, which means they aren't constrained by what your insurance company allows. Learn more about how to find and choose a patient advocate to help you.

Other patients may have some or all of the symptoms you have and might be discussing their experiences online. Online support groups, patient​ communities and other online resources are not difficult to find, and can be infinitely useful.

There may be experts who are researching sets of symptoms that don't even have a name yet. If you are online looking at professional journals or references in PubMed, for example, and you come upon the name of a doctor or researcher who seems to be working on ideas related to your mystery disease, find an email address for that person, and contact them directly. When you write, be concise -- no more than two or three very short paragraphs to begin with. If they are interested and think they can help you, they will write back and you can share more information at that time.

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