Rare Disease Report

Survey Finds Rare Disease Patients Frustrated with the Delays in Getting Properly Diagnosed

SEPTEMBER 17, 2012

Patients and caregivers - frustrated that your rare disease was not diagnosed earlier? Pharmaceutical executives – frustrated that clinicians take so long to get your medication to the people who need it? Rare disease advocates – frustrated that all your educational services are not being heard or read? 

You are not alone. A recent survey of patients with idiopathic pulmonary fibrosis (IPF) revealed similar frustrations. IPF, like many rare diseases, has many early symptoms (shortness of breath, chronic cough) that mimic more familiar ailments (asthma, allergies, COPD). As a result, primary care doctors are often the first persons to see these patients and the first to assume it is something common. Unlike asthma or allergies however, IPF is a progressive, debilitating and ultimately fatal disease characterized by fibrosis in the lungs that hinders gas exchange.

Survey results show patients are dissatisfied

A questionnaire conducted by DoxaPharma on behalf of InterMune Canada Inc asked 63 Canadian patients with IPF what they thought of their diagnostic and treatment experience. The results were not surprising to many people involved with rare diseases.

davidson headshot 150 200_0.jpgIn the IPF patient survey,  97% of patients saw primary care physician initially but in only 15% of those cases did the primary care physician suggested that IPF was the cause of their symptoms. Furthermore, the average length of time between initial symptoms and a confirmed diagnosis of IPF was 20 month. That is over a year and half of running from doctor to doctor trying to determine the cause.  In a press release, Robert Davidson, President of the Canadian Pulmonary Fibrosis Foundation (CPFF) said, “Given that IPF is rapidly fatal, even one day waiting to see a doctor in order to be diagnosed and referred to the proper specialist, or to get access to effective treatment, is one day too many,”

IPF patients were also unhappy with the information available to them. In the survey,

  • 59 % of patients would like to see more information available for IPF sufferers
  • 73% of patients had never heard of IPF before the diagnostic process began
  • 57 % of patients want to see more social services/support for people living with IPF.

Survey shows patients are happier once properly diagnosed and treated

The survey did have some positive news.  Once patients are diagnosed and placed in treatment centers that specialize in IPF, patients are very satisfied. For example, two-thirds of the patients in specialized IPF clinics reported being very satisfied with their care (i.e., rating their care 9 or 10 out of 10). Those results are quite surprising given that at present there is no treatment available for these patients other than oxygen therapy, pulmonary rehabilitation, and/or lung transplant. The TGB-beta synthesis inhibitor pirfenidone (Esbriet®) is available in Europe but in the United States, the manufacturer of pirfenidone, InterMune, is conducting an additional Phase 3 study (ASCEND) at the request of the Food and Drug Administration (FDA). Enrolment in that study should be completed by the end of this year.  

Similar survey results observed in Europe

The results of the current Canadian survey are very similar to those found by DoxaPharma in Europe.[1] In that survey involving 45 IPF patients from 5 European countries, 58% of the patients stated they had delay of >1 year between initial presentation and a confirmed diagnosis of IPF. Furthermore,  55% of the  patients reported consulting 3 or more  physicians before receiving an IPF diagnosis.

Better education and awareness needed

These surveys show that patients with IPF, and likely many patients with rare diseases, often experience unnecessary delays in receiving an accurate diagnosis. Better education and awareness of rare diseases among both primary care doctors and specialists are desperately needed.


  1. Schoenheit G, Becattelli I, Cohen AH.  Living with idiopathic pulmonary fibrosis: an in-depth qualitative survey of European patients. Chron Respir Dis. 2011;8(4):225-31.

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