Monday, April 28, 2014

I'm a Mutant: Now What's My Super Power?

I was asked to speak to a classroom full of Physician Assistants at the University of Utah today by my genetics counselor, Wendy Kohlmann. I agreed because I don't mind speaking in public and also because I love the idea that my experience could be helpful to future doctors and others facing BRCA1.

I've had my friends ask me how it went and I thought I'd share a bit about that experience here on my blog. You know the blog I don't keep very updated (because frankly after the surgeries all happened I didn't feel like sharing at the time...I'll fix that later).

Anyway, I had the privileged of speaking with a 53 year old gentleman, George who has a very rare genetic mutation that causes colon cancer. His father passed away at age 23 (53 years ago) and his grandfather before him. It's called FAP for short, but sadly I'm not good at remember medical terms. He was one of the first to be officially diagnosed with this hereditary mutation and has been part of clinical trials to figure it out every since. Of his four children, two of them have it and are currently being treated. He was a simple man and so willing to put his awful experiences to good use. Love him and it was a nice contrast having us speak together. Just to put it in perspective...1 in 400 people are BRCA positive and 1 in 8000 people have FAP. We each shared our history and experience with our mutations to a class of about 40+ students. Then we opened it up to questions. We spoke to the group for about 1 hour and 20 minutes and had such a great response from people saying thank you for put a face on genetic mutations for them.

I loved that we were able to talk about what we would love to have PAs do for us or in our experience could have done for us. These students seemed to genuinely want to be better doctors. And for me, I was grateful for the opportunity to share (probably over shared).

Most of what I shared about myself and my mutation I have already posted about here on my blog. But here's an excerpt from my presentation that my husband really liked and told me to share...

I never really considered myself a “Mutant," that was until I was diagnosed with the gene mutation BRCA1. You know, the cancer gene that Angelina Jolie made popular in 2013. 

So we are big fans here at our house of any X-MEN movies and apparently them being mutants was not always met with acceptance. However, when I imaged being a mutant or let's say "super hero," I thought of having super strength or flying because those are cool. I never I thought that carrying the hereditary breast cancer gene mutation a super power. But now I’m thinking more and more that it really is a super power. They say power is knowledge right? Why wouldn’t the knowledge that I am at increased risk of both breast and ovarian cancer a super power? I would like to think that I could kick cancer in a battle of strength and stamina and I could soar over treatments like chemotherapy and radiation, but why would I want to if I didn't have to. And more then anything that I could live a long cancer free life to watch my children grow. 

And I realized more then anything, I wanted to take the BRCA test for my future grandchildren. So of course there is the burden of knowledge, that much is true. But I’d rather carry a burden of knowledge than an appointment card for chemo.

Did you know that a  recent study regarding low utilization of BRCA testing reported that fewer than five percent of people who should consider having BRCA testing have learned about it and followed through with testing thus far. Fewer than 5% is awful.

I will forever be grateful for this amazing lady, Wendy Kohlmann. I entered her office four days after burying my father-in-law after his battle with colon cancer. I was nervous and pretty uninformed. She was patient and kind. She was my connection to Huntsman and the Doctors I would eventually need to work with. She was the kind face I needed during a really ugly time in my life. I can never thank her enough for her amazing support of me. And if she asks me to speak again...I'm there!!

If you'd like to contact Huntsman Genetic Counseling offices, they will meet with you for free to determine if you qualify for testing. I would highly recommend you take an hour or two and do this for yourself. Contact their clinic coordinators Mike Wynder or Chris Moss at 801-587-9555.