The End

Today they will pull the plug on my cousin...well, not really.  They'll wheel him into surgery to harvest organs.  It's over and I'm glad.  Not glad that he's dead...but glad that his remains will no longer be in the hospital to be tortured.  He wasn't in that body and I'm glad his wife was willing to let it go.  

Here's the original support post from SMO on 3/5/09:  Genetic Killer
My cousin died yesterday morning, just keeled over at his desk. They started his heart back up, pumped him full of blood, and took him into surgery for 10 hours. They patched him up and waited but there’s still no brain activity. There wasn’t any before the surgery either and there was a very slim chance that the surgery wouldn’t kill him…but not having it definitely would have. He’s not alive though even though machines are forcing the body on the bed to breathe. It’s my nightmare.

He wasn’t a close cousin, the child of my grandmother’s niece. So, my third cousin. He’s only two years older than me and while we weren’t best friends, I knew him. He was one of the tall cousins with the lurking killer in his genes. Full blown Marfan Syndrome confirmed at age 17. Heart surgery at 21 and an aortic repair at 23. He was married last summer. His wife is 10 weeks pregnant.

Would you choose to breed if you knew that there was a 50% chance that your offspring would have your defective gene? And that this particular genetic screw up had the power to cause trouble in most major body systems? Marfan Syndrome. http://www.marfan.org

A diagnosis requires major involvement with several body systems; people with a genetic link and one major system involved or several systems involved in minor ways are labels ‘emerging’ and watched closely. It can remain “emerging” all of your life or be full blown before you hit twenty. Left with all symptoms completely untreated and ignored, it usually kills it’s carriers between the age of 30 and 50…but with modern medical treatment, Marfan’s patients can live a long full life. It can occur as a spontaneous mutation or be inherited. They say it doesn’t skip generations but there’s a very fine line between ‘emerging’ and full blown.

My maternal grandmother is old. Technically, her Marfan’s is still ‘emerging’ because there are a lot of minor involvements and the major system involvements could just be age at this point. She got lucky. My mother is 43 and has had two heart surgeries; she’s always in pain from a spine that’s curved out of shape. She was not so lucky. My younger sister, she’s emerging – with major involvements in her cardiovascular system and in genetics plus some minor skeletal changes.

I should feel lucky that I’m classified as safe. I had a 50% chance of getting it and I didn’t. I’m average height and in normal proportions. My joints aren’t too flexible. My heart and aorta are normal. They checked very carefully when mom was first diagnosed. So I’m not doomed, and my children are safe. I can’t pass on a bad copy of a gene when I didn’t get a bad copy.

But today, knowing that my cousin died, it’s hitting me hard. He was careful, took precautions, saw the cardiologist quarterly. He had his whole life to live and a baby on the way. But Marfans got him. And it could take my mother or my sister.

I try to be philosophical about it. Death could take any of us, any time. I’m glad that I don’t have that ticking time bomb in my chest; And I feel bad because I feel lucky.