1 Extremly Rare Disease That You Haven't Heard Of...But Should Have.

Everyone has been a hypochondriac at least once. Maybe you found a bump on your hiney. Perhaps a totally random and unexpected hospital stay scared the crap out of you and now you watch Mystery Diagnosis (even though you have strict orders not to). You spend hours on WebMD pouring over symptoms and putting them together. You actually wish you pass out only to wake up with Dr. House standing over you. You spend the next 38 minutes being diagnosed and...but I digress. I did an internet search for the rarest disease ever and this is what I found.

 

ROHHAD stands for Rapid Onset Obesity with Hypothalmus Dysfunction, Hypoventilation and Autonomic Dysregulation. In short the symptoms include rapid weight gain, extremely high sodium and prolactin levels and the possibilty to stop breathing without forewarning. Imagine one minute you're sitting in class minding your business and the next. Plop! You've croaked. Diagnosing this disease is very difficult. So much so that doctors who diagnosed 12 year old Mason Byrom used the internet to finally pin down the culprit. To make matter even worse, of the 31 cases reported worldwide most if not all were discovered late in the persons life. Meaning they learned to ride bikes with no problem. Made friends at school, and helped with dinner all while they had a silent killer disease. Diseases this rare are given a sort of pet nickname. Doctor refer to them as orphan disease because "theres little incentive for drug companies to adopt them and develop medicines to combat them." I tried to find more cases in the US, but was unable to. Perhaps this is the only one or maybe they haven't made their way onto the internet. Whatever the case, I say this; something should be done. We should appeal to the big drug companies to do something about this. I'd hate to see a world where even one innocent kid drops dead because helping him isnt profitable.  An interesting note on this is that 25 years ago, a law was passed offering tax and other incentives to drug companies that adopt so-called orphan diseases, and develop medicines to treat them. Still these orphan diseases go largely untreated.

Link - via ksdk

Submitted on Aug 30, 2010 1:18 am by [submitter anonymized] | comments (0)
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