Quest for Diagnosis 2: When You Can’t Find Any Answers

[ If you missed the first part of this piece, click here: Quest for Diagnosis: 7 Tips to Navigate the Maze ]

Searching for a diagnosis can take weeks or months. For some, it can take years of frustration. Last week while doing my physical therapy in the YMCA swimming pool, I met a man living with an unknown illness. After years of seeing doctors, he was resigned to not ever having the answer and not sure he’d continue to try. He didn’t know what else to do.

I suggested he not give up, that there *are* other ways to try. My last post mentioned the organization In Need Of Diagnosis (INOD), whose mission is to provide help and support for individuals distressed by disorders that have eluded medical diagnosis and to promote medical protocols that will make it possible to get an accurate diagnosis more quickly.  The executive director, Marianne Genetti, said:

“Medical schools teach aspiring physicians, "If you hear hoof beats, think horses, not zebras". But there are zebras. They are the rare disorders. In the United States, a rare disorder is one which afflicts less than 200,000 people. The number of recognized rare disorders has recently increased from 6500 to over 7000. Though each of those disorders may be rare, rare disorders as a whole are becoming more common.... A primary care physician who has a patient with a complex, undiagnosed disorder, will refer that patient to specialists. Specialists are now specializing within specialties... So each specialist provides only a small piece of the puzzle. There is no one now in the medical system who has the time, or the expertise, or who is charged with the responsibility of putting together, the pieces of a complex diagnostic puzzle. It is like a symphony orchestra with no conductor... For those with a rare disorder, it can take years, a lifetime, or death, to obtain an accurate diagnosis.”  

Another place to go for help in getting a diagnosis when you haven’t been able to get any answers is the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH). Their website says they are currently accepting applications, but be warned: only a very small number of patients are chosen to come. The goal of the program is to provide answers to patients with mysterious conditions that have long eluded diagnosis and to advance medical knowledge. I recently posted two articles about UDP on a Tuesday-Newsday and you can read them here #1 and #2. On the UDP website there is a link to a page with information you also might find helpful titled, ‘Learning About An Undiagnosed Condition in an Adult.’

One more way to get help for your symptoms and possibly work toward a diagnosis is to join a Clinical Trial. I’ve been in a few myself and have written about my experiences in a post titled, Clinical Trials - Could they help you?, which also includes information on how you can find a trial on your own. If you want assistance, NIH also offers really great guidance. You can contact the NIH Clinical Center and talk to a specialist who can help find a trial to match your needs.

I hope the person I met at the pool last week will continue seeking a diagnosis, perhaps using one of options listed above. Living with a chronic painful illness is hard enough when you know what it is, what your likely prognosis will be, and what treatments to try. Not knowing your diagnosis brings a whole new set up issues. Please hang on to hope and keep trying! 


Diagnosis Series Continues:
-Quest for Diagnosis 3: Exploring the Mysterious