Friday, June 19, 2009

the genetic lottery

i inherited my dads blue eyes. i also have him to thank for my curly, frizzy hair; which i never liked. well, i never liked it until i didnt have it anymore. it was only after i lost it that i actually appreciated it! im not really sure if my mom donated any of her genetics to me. i dont look anything like her. and i dont have too many of her personality traits. actually...i dont have many of either of my parents personality traits! im pretty opposite of them, as i am my brother. they are very business oriented...i am all about the art. they are very "medical", and i am the one who actually thinks asparagus just may be a cure for cancer. and they will be the first ones to tell you that im the nicest one in the family. of course this doesnt mean that i dont like my family! quite the contrary! i love them. i adore them. they are my biggest supporters, and my family is the most important thing in the world to me. i just always questioned where the hell i came from, and how i got the way i am from their combined genetics. i often wondered if they really were my parents! as it turns out; they are indeed, my real parents.

after my cancer diagnosis, i underwent genetic testing. i did this, because the new idea of treating cancer is more gene oriented. basically, people with certain genetic mutations are more prone to getting certain kinds of cancer. women with the BRCA1 or BRCA2 gene have up to an 85% risk of developing breast cancer by age 70, and the increased risk of developing ovarian cancer is about 55% for women with BRCA1 mutations and about 25% for women with BRCA2 mutations. it is was also important for me to know, because people with these deleterious genes often respond better or differently to certain drugs. lucky me....i am the proud recipient of a BRCA1 defect. and even though i am dedicated to educate people on the importance of this genetic issue; i am certainly no expert on it. however, if you are eager to learn more about it, (and i highly encourage it), my friend ellyn is the BRCA queen, so check out her website. ill bet she knows just as much as any geneticist or genetic counselor!

knowing my BRCA status, we felt it was important for my mom to get tested. we all breathed a sigh of relief when she tested negative, because it seems to affect women more than men. so imagine our surprise, when my father, just one month ago, was diagnosed with a rare and serious form of cancer. though men are less impacted by this gene mutation, it does not exempt them from it. he underwent the genetic testing, and he also is BRCA+. of course it was no surprise, since i had to inherit it from one of my parents. i just thought that if he tested negative, it would maybe explain why im so different from my parents. it would have also been a great dramatic scenario, (a la jerry springer!) but alas....i really am related to them. and like myself, my dad is a winner in the BRCA genetic lottery.

so, it looks like there is no explanation as to why my dad is very literal, believing what he sees, as opposed to myself...who would question the color of the sky if someone suggested it was any color other than blue. nor does it explain why my dad went to medical school, and i couldnt pass any math or science class. but it does answer why my dads sister died of breast cancer at age 30. it was a long time ago, and they didnt know about this mutation in the genetic code back then. hopefully they will keep learning more about it, and one day these cancers can be treated in a prophylactic manner. then we can say that we really did win the jackpot!

2 comments:

Unknown said...

Thanks for the shout out Lori! Thinking about you guys everyday and sending some serious prayers in your dad's direction!

XO,

Ellyn

Unknown said...

Thanks for the shout out Lori! Thinking about you guys everyday and sending some serious prayers in your dad's direction!

XO,

Ellyn