Rare Disease Day: Anti-Thrombin Deficiency
Posted on 06:22, February 28th, 2009 by
EKSwitaj
Read my latest flash, Venison, at 52|250.
When I was in eighth grade, my father who never took sick days spent several days in pain on the couch. Eventually, he was moved to the hospital. They had missed, at first, what was wrong with him: deep vein thrombosis. He recovered, but they never tested him for the genetic disorder known as anti-thrombin deficiency. Had they done so and found the deficiency, the HMO would have been required to cover medication for the rest of his life.
At the time, they had pay incentives for doctors who cut costs.
It wasn’t until I had moved to San Francisco in August of 2001 that my family found out about the possibility of a genetic disorder. Unfortunately, we learned about it when the emergency room doctor who couldn’t save my father told my mother that my siblings and I should be tested. The second time my dad developed blood clots, they went to his heart. His heart kept pumping, but it had nothing to pump.
This story is one of the main reasons I support universal health care: it illustrates how damaging the profit motive can be in healthcare. It also shows that, until such time as the profit motive is eliminated, we must educate each other about these types of diseases so that we can demand proper testing and treatment. February 28 is Rare Disease Day, coordinated in the US by the National Organization for Rare Disorders, so tell me: what rare disease do you know about?
ETA: A reader suggested this resource for people with undiagnosed diseases.
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Well – I have two of my own. The first is fibromyalgia. I am not sure if it still qualifies as a rare disease since there are ads about it everywhere now (Thank you Lyrica!) but when I was first diagnosed I had been in pain for more than 20 years. The second illness is also a clotting disorder – Factor V Lyden. This one we discovered after I innocently mentioned that two of my second cousins had just been diagnosed while I was in the dr.’s office having clots in my arms from bad IVs checked out. Thank goodness for those offhanded remarks.
I am sorry about your father. I, too, support Universal Health Care coverage for these reasons.
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You know, I’ve heard about the fibromyalgia ads but haven’t actually seen them anywhere. Are they reasonably informative?
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I’m still waiting to find my own rare disease..this is just a fantastic resource we should all promote and spread awareness !
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