Today was an amazingly productive work day. Starting with my 8 am meeting, everything went really, really well! A "Red Letter" day indeed! 
THEN my mom called me. Which she NEVER does during the day. I was in a meeting so she left a message. Immediately I felt cold and couldn't breathe; my father is not exactly the picture of health. He is overweight, smoked heavily for most of his life (although he successfully quit 2 years ago), drinks excessively and is often a ball of stress, which he is incredibly ill-equipped to handle. His father died of heart disease following years of cardiomyopathy. So every time my mom calls at odd times, or I can't get ahold of my parents, I immediately assume the worst: that my dad had a heart attack. My sisters assume the same thing.
So I called her back immediately.
Whew, no heart attack. Still, it WAS bad news: my dad has adult onset polycystic kidney disease (PKD). This explains a LOT! He has been symptomatic for years.
There is no cure for PKD. Cysts occur in the kidneys, liver and sometimes pancreas. Hypertension ensues and heart disease is a potential complication. In retrospect, my grandfather's heart disease was probably caused by PKD. It is an autosomal dominant disorder, which means that my sisters and I are each at a 50% chance of inheriting the gene mutation. The kidneys will eventually fail and w/o a transplant, early death due to kidney failure is a certainty.
Bummer.
It sucks when your parents get sick. Selfishly, it also sucks when their illness is genetic and you realize that YOU may also get the disease...
50% chance. 50%. Seems pretty high to me right now.
It's also weird for me since I am a genetic counselor. I have seen patients with AD-PKD. I have counseled them and their familes. It's a whole different ballgame when it's YOUR family, and YOU are at risk. I went through this with my sister, when her son and daughter were diagnosed with hearing loss; Family make the WORST patients!
So, if one of YOUR parents had a genetic disorder and genetic testing was available, would YOU have the testing to see if you carry the mutation and are at risk for the disease? Or would you not want to know???
For me, I want to know. *sigh*
--l*P
________________________________
Edited to add:
I just heard on the news that DC is indeed buying the Expos. WHAT'S UP WITH THAT?????????
THEN my mom called me. Which she NEVER does during the day. I was in a meeting so she left a message. Immediately I felt cold and couldn't breathe; my father is not exactly the picture of health. He is overweight, smoked heavily for most of his life (although he successfully quit 2 years ago), drinks excessively and is often a ball of stress, which he is incredibly ill-equipped to handle. His father died of heart disease following years of cardiomyopathy. So every time my mom calls at odd times, or I can't get ahold of my parents, I immediately assume the worst: that my dad had a heart attack. My sisters assume the same thing.
So I called her back immediately.
Whew, no heart attack. Still, it WAS bad news: my dad has adult onset polycystic kidney disease (PKD). This explains a LOT! He has been symptomatic for years.
There is no cure for PKD.
Cysts occur in the kidneys, liver and sometimes pancreas. Hypertension ensues and heart disease is a potential complication. In retrospect, my grandfather's heart disease was probably caused by PKD. It is an autosomal dominant disorder, which means that my sisters and I are each at a 50% chance of inheriting the gene mutation. The kidneys will eventually fail and w/o a transplant, early death due to kidney failure is a certainty.
Bummer.
It sucks when your parents get sick. Selfishly, it also sucks when their illness is genetic and you realize that YOU may also get the disease...
50% chance. 50%. Seems pretty high to me right now.
It's also weird for me since I am a genetic counselor. I have seen patients with AD-PKD. I have counseled them and their familes. It's a whole different ballgame when it's YOUR family, and YOU are at risk. I went through this with my sister, when her son and daughter were diagnosed with hearing loss; Family make the WORST patients!
So, if one of YOUR parents had a genetic disorder and genetic testing was available, would YOU have the testing to see if you carry the mutation and are at risk for the disease? Or would you not want to know???
For me, I want to know. *sigh*
--l*P
________________________________
Edited to add:
I just heard on the news that DC is indeed buying the Expos. WHAT'S UP WITH THAT?????????
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Your secret is safe with me.
-Trevor
As for the Expo thing yes, tis true... the whole town is abuzz with the DC baseball thing.