Hereditary Cancer Genetic Testing

The Results Are IN:

Kathleen Mott‘s areas of expertise include development and management of cancer risk assessment programs and the evaluation and counseling of patients at risk of hereditary cancer within a multidisciplinary oncology practice. Yup.. mouthful. After her name on all marketing pamphlets and business cards include: MS, RN, NP-BC, APNG. I don’t have the foggiest idea what they all mean.

Shorter version? She’s brilliant and ANOTHER rockstar on my “Team of Amazing-ness.”

46 Genes tested…

BRCA1 and BRCA2….. NEGATIVE!!!!!!!!!!! WOOOO HOOOO!!!! Yes, indeed..I’m one of the 499 out of 500 that did not inherit this gene.. a mutation with these genes significantly increase breast and ovarian cancer risk.

We left her office, walked down half the stairs and as soon as we hit the landing out of view.. Tom did the biggest happy dance ever! I have to admit…I’m getting a little closer to celebrating.

There is a “Variation of Unknown Significance” with my ATM gene.. which means MORE RESEARCH may help determine any risks in the future..(the research lab contacts Kathleen twice a year, and if includes a relevant update on the ATM, she will contact me… Cuz yeah… I have a brilliant genetic counselor looking after me:) but as of now, this gene can just join the rest of my “inconclusive-ness”

  • ER+ (by 57% not 100%)
  • PR+ (by 68% not 100%)
  • HER2 Negative (actually “equivocal” not positive orĀ  negative.. but since it’s not positive, it’s negative. Get it? Yeah, that one took me a minute.)
  • Mammogram (didn’t see the palpable tumor I found, even with targeted 3D in that area)
  • & MRI – “Significant Background Enhancement” didn’t see a damn thing – (I still don’t understand this one)

Remember Mendel’s Peas? A lil Story.

Selecting a biology class for undergraduate work in the early NINETEEN 90s (my 6th graders can’t fathom how I could be SO ancient, and yet look so young. Those students who guessed my age at 35 all received an A for the year. Coupling that with gifting me Starbucks card, a few students topped out with A+ s.) ((no, not really he heheee)). I found a equivalent class titled ‘Genetic Biology’. It didn’t have a prerequisite, was a 100 level class AND had a lab.

I’ve always been interested in genetics. Perhaps because my mother is 5’3″ and my biological father was 6’9″, and I ended up 6’2″. (Well, that gravity thing must be true because at the genetic counseling office I was 6’1″. Great.. how boring. 6’2″ sounded so much cooler.)

We were notified on the first day of class that an instructor hadn’t yet been assigned to the section, so the other science professors would be filling in on a rotation basis until a permanent one was found. I read my textbook assignments thoroughly, and didn’t even OVER highlight everything. I took careful, color-coded notes (of course! Didn’t everyone?).. and was still earning a C by the skin of my okole` (Hawaiian for tushy). The myriad of teachers was too inconsistent and I couldn’t follow most of their teaching styles.

One day, a young professor came in and announced that she would be our permanent instructor for the rest of the semester. She began her lecture and most of it made great sense, but I had previously been truly struggling with Mendel’s Peas.

 

“Ok, class.. let me explain it this way… THESE are the grandparents, THESE are the parents, and THESE are their children.”

“AHA! I GET IT! I GET IT, NOW!”

Apparently by her smile and the belly laughs of my 99 classmates, that scream wasn’t just in my head.

Gratefulness

So very grateful I got those great genes my family always talks about… My grandfather passed at 100 years old, healthy as a horse and as positive as an overflowing cup.

 

 

 

One thought on “Hereditary Cancer Genetic Testing

  1. Sounds like great news. I also took a genetics course while in community college. It was one of my favorite courses. Keep the good news coming.

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