Mutated and extremely grateful!

Last year, my mother called me to let me know she was being tested for a genetic mutation: MSH2 also known as: Lynch Syndrome.

She tested positive. So, I set up an appointment with Duke's Genetic Counselor to see if I had the mutation as well. After being asked approximately 40 times if I would want to know if I had the mutation... I found out that I had the mutation. 

My sister and I both came back positive. The mutation of course is considered dominant even though you have a 50% chance it is still more likely you would have it.

What does it do? It increases our risk of several cancers: colon (50%), endometrial (20-40%), stomach (20%), ovarian (16%), uterine (8%), brain (4%) and skin (2%). Phew... lots of statistics that have know been engraved in my mind.

More specifically, the mutation which is located on my 2nd chromosome disables the DNA from being able to proofread a copy of DNA which in turn can lead to errors which then can lead to cancer.

So, I have had 2 colonoscopies, 1 endometrial biopsy, 1 ovarian ultra sound, 1 uri-analysis and thankfully so far every thing has come back benign. Without, the testing I could have developed cancer (especially ovarian) without every knowing and maybe my life would be cut shorter than I hope.

I feel so grateful to have so many people around me that have helped me go to appointments to get my screenings done.

Last week, when I was at the doctor's waiting for my biopsy; I could hear the nurses saying "She is so young why is she getting this done?" It is sad that I have to get this done but what would I rather have? My mom and her family could have potentially saved all of our lives by making the courageous choice to get tested. Lynch Syndrome is not as rare as people think. (1 in 200 people have it.)

My "lady" doctor told me that I was the first person to know that I had Lynch Syndrome until it was too late. It feels great to know that even though being poked and prodded isn't the greatest time that I am taking my own life in my hands and making it better.

The other added bonus is that because I am a Teacher. I have lots of friends in the Science department that love to have me present to their students about my pedigree which is quite interesting and I love it. It is certainly a real world example for the students to have in the classroom.

:)