Before starting to work at the Primary Children’s Hospital, I used think that rare diseases were just that — rare.
In fact, in medical school we are taught that in the pursuit of a correct diagnosis, when you hear hoof beats, don’t think of zebras.
Here at this hospital, we are smack dab in the middle of a virtual herd of zebras.
A clinician, in making a diagnosis, still must consider the most probable condition that encompasses all of the patient’s symptoms. We are reminded in that quest of a statistical guess that “common things are common.”
Numerically it is so, but a regional and international children’s hospital is the gathering place for the uncommon and the rare.
Families with children with rare disorders are at great disadvantage. Because the condition is not well-known, it is not well-recognized in their child. Too often it requires a significant medical collapse or striking physical feature to draw attention to the problem no one has ever seen. There are many examples of the families that bounce from one well-intended physician to another, all with different conclusions. It is typical for a physician to refer a patient with a complaint that falls into the unusual category. The specialist checks out their organ system and pronounces it clean, but with no answer to the bigger problem.
In other situations, the patient may carry a labeled diagnosis that is common but is wrong. We have this confirmatory bias built into our reasoning that funnels all the questions to the same answer. If our treatments fail, then we call it a variation of the same instead of something rare.
When a child or anyone has a medical condition that is not part of the masses, our economic model doesn’t know what to do with them. Pharmaceutical companies are expected to make two things, new products and a profit. One can’t do either alone.
Here is the challenge. To make medicines for the few doesn’t pay. They are too expensive to make, which would make them too expensive to buy.
It is that economic reality that makes rare harder to endure.
Congress has acted in the past to incentivize the pharmaceutical companies to invest in the “orphan diseases.” In the Rare Diseases Act of 2002, "rare" is made corporeal with numbers. Rare is defined as a disease or condition that affects less than 200,000 of our fellow citizens. It is tough to do research for a problem that is only seen in 1 out of 1,500. That was 2002, and the need is greater now.
Rare Disease Day will be observed Feb. 28 to increase awareness of the issue.
Imagine you or your child are one of the 199,999. The statistics and label of rare are meaningless to you. Your daily disease is all too common for you. You would want a system of research and development to see if the condition can be ameliorated or, even better, eliminated.
You are realistic. You know it won’t be in your lifetime. Just maybe it doesn’t have to afflict others, and if it does, there will be treatments available. These wonder drugs exist because we as a people figured out how to do the studies and perform the tests for even the least of our brothers and sisters.
The next time you hear about a rare disease, don’t think of zebras, think about that one child.
Joseph Cramer, M.D., is a board-certified pediatrician, fellow of the American Academy of Pediatrics, practicing physician for 30 years and a hospitalist at Primary Children's Hospital and the University of Utah. Email: firstname.lastname@example.org
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