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A home for orphan diseases

Written by Dr. Shmuel Prints and Yana Prints
Dr. Andy says

Ever since I was a child I liked to solve riddles. It was not the riddles themselves that I liked as much as that feeling of "Eureka!" - the moment where a problem that seems unsolvable becomes crystal clear.

That feeling motivated me to learn medicine. After finishing medical school, this feeling accompanied me in my daily routine as a physician. It made my entire career revolve around finding the rare ones - patients with rare diseases. But these cases were scarce. like any other experienced doctor, I began thinking that when viewed separately, these conditions are mostly easy to miss. 

Three years ago, it all changed. I read that Israel's health department announced the foundation of 'The Committee of Rare Diseases'. They invited people interested in the matter to present for them. I was one of those people. By that time I have been studying the algorithmic approach to medical diagnosis, and learned about its advantages and disadvantages. I have known that the algorithm does improve the precision of medical diagnosis in everyday medicine, while enabling a considerable error rate. This "flaw" is related to the probability theory that is the basis for choosing the best diagnostic algorithm and also characterizes modern evidence-based medicine. Then it hit me. I realized that the diagnostic problem of rare diseases is not isolated. It is an inevitable result of the diagnostic routine, chasing after the duty to maximize the precision of diagnosis.  

By that time, it was clear to me that rare diseases must have a different approach to diagnosis. The new approach I offered was based on a direct identification of a patient's diagnosis by individual doctors who recognize it due to previous experience. I realized that the way to do it is by presenting undiagnosed patients with difficult cases in an online platform built especially for diagnosing rare diseases. 

Now I am ready. I am prepared to present to the world of medicine the best solution possible for diagnosing rare diseases. Each doctor has the experience and the unique talent to decipher a riddle of one patient or another. Only a collaboration of doctors from different medical fields will yield the winning solution. 

Rare diseases are also called 'Orphan diseases'. It is true. Modern health care systems are mainly aimed at diagnosing and treating common diseases, and so rare diseases don't have "parents". I call on my peers in medicine to build these orphans a new home, here at NDC Medicine.

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