Monday, April 29, 2013

Family Medicine: Rare Disease Frustrations Persist

#HAWMC Day 27
Day 28    What have I learned about being a  patient that surprised me
the most?
"What have I learned about being a patient that surprised me the most? 
I was flabbergasted as I went through the initial process of getting the lyme diagnosis and how many medical professionals chastised, degraded, ignored, and negated me as I asked questions to the get to the bottom of the issue.  
I was shocked by how many physicians threw prescriptions at me and even admitted that they would not look for the source of my pain.  Rather, they would only treat me symptomatically."
 Something failed in the engagements of Ms. Rainey with multiple physicians.  I'm glad she eventually found someone she could work with.  Rare and unusual diagnoses sometimes tax the decision making style of the individual physician and the system of work flow and various incentives.  Interacting with the person with the rare diagnosis may require several visits to systematically clarify what is happening.  The differential diagnosis starts with more common possibilities, working toward less likely diagnoses.

Since we already know that Lyme disease is a major diagnosis, we know it's difficult to arrive at that diagnosis.  We also know that the search strategy can get expensive to test and clarify the options in the differential diagnosis.

I once knew a physician from near Lyme, Connecticut who went into congestive heart failure when she was at a major university in North Carolina to give a medical presentatiuon (not UNC).  She knew a great deal about Lyme disease (surprise) and asked the attending cardiologist if he would order a Lyme test since she lived near Lyme, CT and all her signs and symptoms could be explained by Lyme disease as the diagnosis.  The cardiologist refused to order the test.

They got her heart rate controlled and flushed out lots of fluid with diuretics well enough to get her back home.  On arrival, she went to the county health department, was tested for Lyme disease, which tested positive, was treated and her heart reverted to its normal rhythm and function in a few weeks.  That physician knew some of the frustration that Ms. Rainey felt, but she was A PHYSICIAN BEING DISSED BY HER OWN COLLEAGUES.  Very pathetic, indeed.

Ms. Rainey wisely kept going until she found physicians who would partner better.  Congratulations, Ms. Rainey on your wisdom.

It's true, though, that on our bad days, all physicians or patients may not connect well.  Follow up visits may be needed to best clarify how the relationship may serve the dyad of patient and physician.  Terminating the relationship sometimes is necessary, as in the case of Ms. Rainey and my friend from  CT.


  1. I have been told that I have Lyme's by a Naturopath - I also have vulvodynia. This is like telling you that you have “something awful down there” and they send you from doc to surgeon to OB-GYN and - no one seems to know much about it. What I do yet read is that 1 in 6 women have vulvodynia - it is an embarrassing disease with no visible cause - in the past related to physical abuse - women under report the condition as their male doctors pass it off or over and more and more do not know what to do.

  2. Thanks for your comment. You have a difficult situation which points out a problem in persons with rare conditions and brings up a point about genital diagnoses.