Essay On Familial Lipase Deficiency

Here’s an anecdotal story about my wife’s extremely rare form of Familial lipoprotein lipase deficiency, which back in 1986 didn’t even have a formalized name. I vividly recall the day I took my [Korean born] wife for the required lab work after having been told we were pregnant. I remember watching her blood turn a milky white color as it was drawn into the vile. Since I was (and still am) relatively squeamish at the sight of blood, it was the first time I had ever watched a lab procedure and I had no idea that blood was not supposed to look like that.

Later that day we received a phone call from the doctor’s office telling us that a mistake had been made and they needed us to return to redo the lab work. We followed up the next day and had the labs redone and waited for what we expected to be normal results. A number of days later the doctor called and told us that my wife’s cholesterol and triglyceride levels were “off the charts” and he needed to figure out why the tests were indicating triglyceride levels of 1700 and 1800 respectively on both tests, and …show more content…
I am happy to say that my wife and I had another child and again her cholesterol and triglyceride numbers were way high. She is now on medication that keeps her numbers within a more narrow range of 300-400 for triglycerides and 400-500 on her LDL, but almost 30 years later there have been no negative ramifications except for pockets of fatty tissue known as xanthomas that have accumulated under her eyes. The disorder affects approximately 1 in 1,000,000 people so it is relatively rare. That’s about 350 in the United States. But with today’s advancements in pharmaceuticals it has become much more manageable. My wife was also lucky that she was born in Korean and never developed the need for sweet and starch-laden food. I wish you luck and I’m sure all will work