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.
- Shire. Rare Disease Impact Report, April 2013. Accessed at globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
- The Eler-Danlos Society. Why the Zebra? Accessed at ehlers-danlos.com/why-the-zebra.
- 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 firstname.lastname@example.org or (800) 843-7477 x1366.