January 28, 2022

The detective work for mysterious symptoms can be difficult. Here’s where to start.

The relationship between a patient and a health care provider is not normally complicated. A patient has symptoms, visits a physician or nurse practitioner, and leaves with a diagnosis. 

But sometimes there are roadblocks to finding out what’s wrong. For people with an undiagnosed disease — a lack of explanation for their symptoms — they may never find a diagnosis.

The specialists working with Vanderbilt University Medical Center’s Undiagnosed Diseases Program understand this frustration. They work to solve medical mysteries for people with complicated conditions, hard-to-detect diseases and/or symptoms that so far have not led to a diagnosis. Patients searching for answers to their medical mysteries should definitely speak up, said Rizwan Hamid, MD, PhD, the Dorothy O. Wells Professor of Pediatrics, director of Pediatric Medical Genetics and Genomic Medicine and director of the Undiagnosed Diseases Program.

“Patients and their families are often the best source of information when it comes to rare and undiagnosed diseases,” Hamid said. “Be sure to tell your physician(s) everything you are experiencing, even if it seems insignificant or unrelated. A collaborative effort between the patient and their physician is often what leads to answers,” he said. 

How to get help for an undiagnosed disease

Hamid and his team offered the following tips for patients trying to find out what illness or condition is causing their problems:

  • Keep a diary of your symptoms. This can be helpful, especially regarding subjective symptoms (those that are only perceptible to the patient, like pain). Keeping a diary can help physicians see a trend that can lead to answers. When thinking of your symptoms, what makes them worse? What helps? Do you experience them at a certain time of day? Are they brought on with activity? Keeping a record can be very helpful. 
  • Find a primary care physician you respect. Having a good relationship with a primary care doctor or another specialist who can advocate on your behalf can help soothe some of the stress and anxiety that comes with not knowing what’s wrong. Be sure to ask for additional resources or referrals that may help, before a program for undiagnosed patients is considered.
  • Join an online community for people with rare or undiagnosed disease. Speaking with other people going through a similar experience can bring comfort because they may be able to offer advice, physician referrals or resources they have found helpful. 
  • If you haven’t already done so, ask your doctor if you should see a geneticist. Many times, that appointment is a last resort, but ask to be referred, especially if you have multiple objective symptoms (symptoms that are perceptible or measurable by others). 
  • If you’ve already had genetic testing done and it showed “variants of unknown significance,” look at clinical trials and/or websites like MyGene2 (which lets families with rare genetic illnesses communicate with other families and researchers) and the National Organization for Rare Disorders. These sites can help you to connect with other people who have the same variants. There might not be enough knowledge today about your variant to provide a diagnosis, but information learned in the future may lead to answers.
  • Ask for copies of your medical records along the way. Many times, people are seeing multiple doctors in several locations who do not share the same electronic medical record systems. Keeping your own copy of your records can cut back on the time it takes to share results and past medical records with new specialists.
  • Be mindful of your mental health. People going through extensive medical evaluations for undiagnosed problems often struggle from anxiety and depression. This can worsen as the search drags on. Seeing a counselor or mental health provider can help you cope with your symptoms and situation.
  • Finally, if you and your health care providers are still at a loss, ask if next steps should include referral to a program for undiagnosed diseases, such as Vanderbilt University Medical Center’s Undiagnosed Diseases Program.

This post was written by Nancy Humphrey, chief copy editor in the Vanderbilt University Medical Center Office of News & Communications.

Solving medical mysteries

The Vanderbilt Undiagnosed Diseases Program works to solve medical mysteries for patients with complicated conditions and rare diseases. Our patients benefit from a team approach involving experts from across Vanderbilt University Medical Center. Ask your doctor for a referral to our program.

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