It’s not fun to feel sick. But it’s really maddening when no one can figure out what’s wrong with you. You trudge from doctor to doctor, often undergoing many tests. You might be incorrectly diagnosed or be told you have emotional problems. Meanwhile, you are suffering. And worried you’ll never get better. How can you get help with a hard to diagnose health issue? What if you have a rare disorder that your doctors are not familiar with? Read on to learn about options if you and your doctors are struggling to figure out what’s wrong with you or a loved one.
Rare disorders impact millions.
Approximately 25 million Americans cope with rare disorders. Unfortunately, these folks often go for long periods, sometimes years, without a proper diagnosis.
It happened to me.
For over 3 months, when I was in my mid-20s, I was so dizzy I couldn’t walk without holding on to a wall. I had to take medical leave from work. My parents generously stepped in to help take care of me and my infant son. I was in bad shape.
My primary care doctor couldn’t figure out what was wrong. I went to multiple specialists, underwent a slew of tests, still nothing.
One well respected specialist at a top hospital told me that depression was causing my dizziness. Yes, I was depressed. I had been bedridden with dizziness for 3 months! But I wasn’t depressed when it started.
Then my primary care doctor dismissed me – claiming he couldn’t help me. Just like that, I no longer had a primary care doctor.
Finally, I went to a doctor who was a fabulous diagnostician. He figured out my issues, recommended treatments and I quickly started to feel better.
Undiagnosed Disease Network helps with the tough cases.
Do you have a hard to diagnose health issue? You might find answers at the Undiagnosed Diseases Network (UDN), a federally funded project created to help patients with difficult to diagnose ailments.
UDN is a research study conducted in medical and research centers across the US. Their goal is to improve the diagnosis and care of patients with undiagnosed diseases while advancing the understanding of how the human body works.
The participating centers use a cross-disciplinary approach to diagnose rare and undiagnosed conditions. Since these cases are challenging, researchers in the network pursue every possible clue to figure out what is wrong with each patient, using information obtained from genetics, imaging, biochemistry, and clinical exams.
Where are the clinical centers?
There are 12 clinical centers in the US:
- Bethesda, MD – NIH Undiagnosed Diseases Program
- Boston, MA – UDN Clinical Site at Harvard Medical School
- Durham, NC – Duke University and Columbia University
- Houston, TX – Baylor College of Medicine, Texas Children’s Hospital, and Baylor CHI St. Luke’s Medical Center
- Los Angeles, CA – UCLA Undiagnosed Diseases Clinic
- Miami, FL – University of Miami School of Medicine
- Nashville, TN – Vanderbilt Center for Undiagnosed Diseases
- Philadelphia, PA – Children’s Hospital of Philadelphia and University of Pennsylvania
- Salt Lake City, UT – University of Utah – Intermountain West
- Seattle, WA – Pacific Northwest Undiagnosed Diseases Clinical Site at University of Washington and Seattle Children’s Hospital
- Stanford, CA – Center for Undiagnosed Diseases at Stanford
- St. Louis, MO – Washington University in St. Louis
How can you participate in the study?
One must apply for acceptance into this study and not all patients are eligible to participate. If you would like to participate, discuss this with your doctor, who must write a study recommendation letter on your behalf. The application along with information regarding materials needed and directions for applying are available on their website. If you have questions, you can visit their FAQ section, call them at 844-746-4836 (9am – 5pm ET, Monday – Friday) or email them at UDN@hms.harvard.edu.
As a result of their strict guidelines, you might not be accepted. They only accept about 40% of patients who apply, all of whom had been referred by their doctor. So, plan your expectations accordingly.
How much does it cost to participate?
UDN aims to minimize patients’ expenses as much as possible. If you are accepted into the program, you can discuss possible out-of-pocket expenses with UDN.
Will UDN figure out what is wrong with you or your loved one?
Maybe. According to the UDN website, out of 974 patients who they evaluated, they were able to diagnose 260 so far, or almost 27%. Since these patients have conditions that are very difficult to diagnose, 27% is meaningful.
If UDN researchers reach a diagnosis, they generally will not provide treatment. Your own healthcare provider will provide treatment, but UDN may provide treatment recommendations.
A few patient examples.
A New York Times article highlights 3 patients who participated in the UDN program. Because these stories are so interesting, I encourage you to read them.
What if you have a hard to diagnose health issue and you can’t get into the UDN study?
First of all, don’t give up if you can’t participate in the UDN study. America is full of dedicated, smart doctors who want to help you. While it might take many tries to find the right doctor, or team of doctors, it’s worth the effort.
You might find help through the National Organization for Rare Disorders (NORD), the Genetic and Rare Diseases (GARD) Information Center, and Genetic Alliance.
Additionally, you might find help through a virtual second opinion (VSO) program at a top teaching hospital. The following VSO programs provide access to top specialists with advanced levels of expertise:
- The Clinic at Cleveland Clinic
- Dana-Farber Cancer Institute
- Duke Health
- Mayo Clinic
- Stanford Health Care
- UChicago Medicine
Note that VSO services are not free, and many programs don’t accept insurance. So look into costs before you start to avoid surprises.
And visit the Zaggo Resource Center for information on other organizations that provide information and/or help.
Finally, read my blog post Can Telemedicine Help You Get a Proper Diagnosis for a Rare Disease?
It is very difficult to have a hard to diagnose health issue, therefore I recommend you also read these posts for more tips:
- 10 Steps to Reduce Your Risk of Diagnostic Error.
- What are Doctors Doing to Reduce Diagnostic Errors?
- Personal Stories of Diagnostic Errors.
- The Dangers of Too Many Medical Tests and Treatments.
NOTE: I updated this post on 3-16-23.