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Posted on 2. November 2017

The Doctor-Delayed Diagnosis

By Abbie Cornett

As a patient advocate for people with rare and chronic diseases, I frequently hear about the long diagnostic process most patients go through. In fact, the average time to diagnosis for patients with rare diseases is 7.6 years in the United States, and the average number of doctors they see before being correctly diagnosed is eight.1 And, these statistics don't even begin to cover the number of patients who go undiagnosed or misdiagnosed. According to the Orphanet Journal of Rare Diseases, a United Kingdom survey found that 30 percent of patients reported three or more misdiagnoses.

While awaiting a correct diagnosis, patients frequently experience worsening symptoms, a decline in overall health and even death. These delays not only have physical health implications, but also cause mental health issues such as anxiety, stress, feelings of isolation, worry and depression. What's worse, they can significantly lower patients' quality of life compared with patients who have been correctly diagnosed and are receiving proper treatment.

The question is: Why does it take so long for patients to be correctly diagnosed? Contrary to logic, doctors may be the biggest barrier to patients receiving the correct medical treatment for their rare disease. Many factors contribute to this. First, doctors are taught in medical school to look for the most obvious diagnosis to fit the symptoms a patient is experiencing. Theodore Woodard, MD, a professor at the University of Maryland School of Medicine in Baltimore, coined this phrase in the 1940s: "If you hear hoofbeats, think of horses, not zebras." This aphorism has resulted in many patients not receiving the correct diagnosis for years. Indeed, it is so well-established that rare disease groups have adopted the zebra as their mascot, and have revised the phrase: "When you hear hoofbeats, sometimes it's a zebra."2

Neglecting to look outside the box is only part of the proverbial problem of failing to correctly diagnose a rare disease. Physicians report they frequently don't have the necessary time to spend with patients, or the resources available to adequately treat them. Patients with rare diseases require longer and more frequent visits, making it difficult for physicians to provide the needed care in the allotted appointment time.1 And, patients with rare diseases require a higher level of time-consuming collaboration with other specialists.

Further, information on rare diseases is difficult to find. Doctors report not having access to the information they need.3 According to them, opportunities to network with other specialists are limited, and information provided by professional organizations on rare diseases needs to be improved.

By virtue of their title, doctors enjoy a higher level of trust than most other professionals. While trust is an important part of the doctor-patient relationship, it can also lead to a delay in diagnoses if patients blindly accept what they are told. It is important to remember that doctors are human, and they don't always have the answers. And while it is rare, some are not motivated to look. As a matter of fact, doctors are under increased pressure themselves today, with many reporting high levels of burnout and fatigue associated with stress.

When receiving inadequate treatment and attention, patients need to ask themselves: Is it time to look for a new doctor? There are many reasons patients should take this step. First and foremost is if they are not getting better! Patients who are receiving treatment, yet their symptoms have not improved or have worsened, should also consider finding a new doctor. And, if patients feel their physician is not actively seeking answers, or is not engaged in their treatment, they should look for a doctor better suited to their needs.

As a patient advocate, I am frequently asked to help patients find a specialist. If you are having trouble locating a doctor in your area, please contact me and I may be able to suggest options for you.


  1. Shire. Rare Disease Impact Report, April 2013. Accessed at globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
  2. The Eler-Danlos Society. Why the Zebra? Accessed at ehlers-danlos.com/why-the-zebra.
  3. Rare Disease Patients Face 5-7 Year Wait for Diagnosis. PM Live, April 2013. Accessed at www.pmlive.com/pharma_news/rare_disease_patients_face_5-7_year_wait_for_diagnosis_471516.

Abbie Cornett is the patient advocate for IG Living magazine. She can be reached at patientadvocate@igliving.com or (800) 843-7477 x1366.


Comments (7) -

RUTH Ann Courtade
9:29 PM on Tuesday, November 14, 2017

I have had the good fortune of some exceptional specialists for my health care to date. However, as I have aged and my combination of unusual or uncommon health issues and life circumstances has presented some formidable obstacles.
Currently, locating a “Primary Physician” to orchestrate my inter-related health Issues has become a major challange.
Finding a Board Certified Internist to co-ordinate and monitor my various health providers while adhering to my Medicare and supplemental insurance requirements has met with tremendous difficulties. I would be grateful for help in this matter and seek an advocate for reliable referrals for my quest.
Any help would be appreciated. Thank you.

Vicki Romero
4:17 PM on Thursday, October 17, 2019

It is not just rare diseases that get delays but simple like lung cancer being told it is bronchitis for years, given antibiotics, extreme fatigue, bone pain, and other symptoms were dismissed as anxiety, female problems never ordered a chest ct in a long term smoker pcp needs to look for zebras more often.

5:43 AM on Tuesday, February 04, 2020

you can find a new doctor and start all over again ...and you can't be seen for months

2:57 AM on Friday, March 06, 2020

( my  name julius ,,thank you for putting this into words. I suffered for over 20 years with hypothyroidism. Treated with Synthroid based on TSH tests only. Complained all that time of symptoms but I didn’t realize they were coming from my thyroid disease and no doctor clued me in. Sent to all kinds of specialists who could find nothing wrong with me. Was placed on antidepressants. A few years ago an acupuncturist looked at my list of symptoms and told me they were all coming from my thyroid and a lightbulb went off. Since then I’ve advocated for myself. It’s a constant struggle. I’m now taking T3 in addition to T4 but it’s still a balancing act and it’s frequently out of balance. It’s a horrible disease. until i found a specilist who cure my illnes here is her contact on whatsapp +17692085860 she is capable all in kind of diesases e.t.c) business
(7) Remove the disease
(8) you want women / men to run after you
(9) winning lottery numbers
10) you want to be rich and famous
(11) You want to be promoted in your office
(12) sickness cure e.t.c

8:37 AM on Saturday, September 26, 2020

"First, doctors are taught in medical school to look for the most obvious diagnosis to fit the symptoms a patient is experiencing. "
- In my case it is the exact opposite, doctor not going with the obvious diagnosis, causing months of delays in treatment. Delay = suffering. They say time is money, I say time is suffering.
I had a diagnosis of hemorrhoids early on, but the doctor refused to administer the treatment, as it would have interfered with his search for unrelated cancer.  Of course he didn't tell me that openly. They search for potential cancer in every patient first, and treatment of actual existing painful illnesses is put off for months until after all cancer tests are done. During this the patient suffers and unable to live a normal life for months, sometimes unable to focus on work for months (risking unemployment and personal bankruptcy).  I wonder the doctor's agenda is different than the patient's agenda, which is to resolve the known illness. A completely treatable illness is not treated for months, to serve a "greater cause" or "public good" of screening as many people as possible for other unrelated more serious illnesses. They think it's better for 99 strangers to suffer than one patient die for being un-diagnosed.

7:45 AM on Wednesday, March 24, 2021

I once went to a dermatologist with symptoms exactly matching a hormonal rash -- including the rash cycling away and back every 4 weeks.  The doctor flat-out told me that she would not even TEST for it, because "that's rare."

That has to be one of the stupidest things I've ever heard.  "Rare" means SOMEONE has it.  "Rare" does not mean "nonexistent."  

But it perfectly illustrates the horses vs. zebras attitude mentioned in the post.

Sarah T
1:33 AM on Friday, July 30, 2021

I have waited 10 years to get a diagnosis for a rather straightforward complaint: chronic orthostatic intolerance. Now, looking at the symptoms, I can see that I mentioned key information over and over that could have easily led to a doctor identifying it, such as "can't stand still in a queue", "feel worse in hot weather" and "feel lightheaded when I exercise". I came across information about POTS, one form of orthostatic intolerance, and eventually worked my way back from that. In the end it was not a GP that diagnosed me, but my endocrinologist, who I was seeing for an unrelated matter. She is a very smart person and picked up on it and referred to me a dysautonomia / blood pressure specialist. I hate to think where I would be if not for her.

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