A Needle in a Haystack

Like many second year medical students, I have sometimes (or perhaps often) questioned the importance of learning about exceedingly rare or obscure diseases. With a Pathology curriculum based on a combination of the Robbins and Cotran Pathologic Basis of Disease text and “self-directed learning,” it is not difficult to find oneself buried in an incredibly dense and detailed textbook, hoping to absorb relevant details without knowing what “relevant” truly means. Relevant to the treatment of patients? Relevant to pass the course exam? Relevant to do well on the USMLE Step 1? It seems that there is little standardization in the defining of relevance for medical students: it is a subjective task that encompasses each individual’s perception of the core principles of the medical field and each individual’s biases and preferences toward or against subfields.

Nonetheless, I found myself very impressed by the compelling case presented by my Genetics course faculty, their patients, and the families of their patients: that as physicians, it can make an enormous difference to simply be able to recognize a rare disorder as being rare and something to be considered. During the two week course, we had visits from five different patients from very different backgrounds, with very different diseases, and with varying degrees of management and severity of prognosis. Their message was uniform and clear. In one case, a child with a metabolic disorder requiring strict dietary restriction called phenylketonuria (PKU), the parents lived in a small town, and their family’s longtime pediatrician had no knowledge of how to manage a PKU patient. After receiving the first positive result suggesting PKU on a routine test shortly after the child’s birth, the doctor went so far as to tell the parents not to worry and that the child did not have PKU because “no one gets this disease.” The parents still bring their child to this pediatrician to manage everything besides the child’s PKU, but the doctor is still unfamiliar with the disease and how to manage basic illnesses that may be much more severe in a PKU patient. Would it not be a small price to pay to spend some time learning a little bit more about a patient’s rare disease to improve his or her health management, or moreover, learn a little bit about as many rare diseases as possible to be able to recognize those patients should the statistically unlikely occur?

For a medical student, it seems to be a daunting task to learn about every disease known to man, especially those for which there have only been a handful of cases reported and recorded. Reading about these diseases in a textbook or hearing about these diseases in a lecture (from a non-expert in these specific diseases) seems to do little to encourage the formation of permanent memories. However, assigning a face to a rare disease, shaking someone’s hand, asking her questions, and hearing her story in her own words and voice is a powerful experience that is forever fixated in one’s mind. I will likely forget their names, but I will not forget the stories of individual patients who suffer from tuberous sclerosis, Fabry disease, phenylketonuria, and Down syndrome.

My suggestion to medical school instructors is this: if you want to teach your students about an uncommon condition and you have a patient who has it and is willing to speak about it, please bring him or her to the class. Few tools of instruction are as profound and lasting for the student, not to mention that it also gives the patient a chance to take ownership of his or her condition and help others who suffer the same.

  1. My daughter was diagnosed late with PKU. She was born outside of the US and there was such little knowledge that I had to leave the country and get her treated in the United States. Another woman got the possitive for PKU but the doctors told her not to worry that it was no big deal. She did her own internet research and almost starved her baby in order to save her brain.


  2. Dear Apollo,

    Great blog post. I will provide a reference to your blog in the Fabry disease community. We are encouraging individuals with Fabry disease to make themselves available as case studies, education forum participants, etc. I (a needle myself) have participated any many events and have personally demonstrated angiokeratoma to well over 500 dermatologists as a case study in various settings. Thanks for your great message!

    Jerry Walter
    Founder and President
    National Fabry Disease Foundation


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