AA&MDSIF survey on the Path to PNH Diagnosis | Aplastic Anemia and MDS International Foundation (AAMDSIF) Return to top.

AA&MDSIF survey on the Path to PNH Diagnosis

Introductory image: Group Photo at Representative Matsui's Office

AA&MDSIF along with our strategic partner, the PNH Research and Support Foundation (PNHF), heard from 163 patients who shared their patient journey from an initial “disease related medical episode” or incidental finding, to document the path to the PNH expert hematologist. Though the initial symptoms varied, fatigue was identified by 88% of the respondents of which 60% went first to their primary care physician about that symptom. Hemoglobinuria was reported by 62%, and of those 25% went first to the emergency room when they first experienced blood in their urine.  Less than 13% of respondents saw a hematologist when they first experience symptoms, with 33% seeing that medical specialist second and 28% reporting the hematologist as the third doctor on their path to diagnosis. Some patients described their path as a series of events that were never connected.

When asked to describe this path, this is what they said:

Once diagnosed, 11% indicated they did not get any information about their disease or treatment options from their doctor at first. And 31% indicated they did get information but it was very limited.

The words frustrating, confusing, scary, and hard were among the most frequent ways patients described the initial stages of the path.  It is clear that actually getting a proper diagnous is a difficult process. 

Based on the results that were collected, we are going to examine ways we can work to shorten this process and make it clearer for patients who are already stressed.  But one thing anyone can do right away is begin participating in self-advocacy.  

Learn more about PNH and how you can stand up for your health as an empowered self-advocate.