Five years ago I was given the brochure for BRAC Analysis testing at the age of twenty-six.
BRAC analysis testing is a gene test given which is looking for mutations constant with hereditary forms of cancer. Most commonly, women with hereditary cancer such as breast and ovarian carry the mutated BRAC 1 or BRAC2 gene.
At twenty-six I decided to tuck the brochure away and my husband and I agreed that once we were finished having our babies we would plunge into gene testing.
This has been a hard decision to make. Even in the last few months after having my fourth child, I have gone back and forth about the decision.
–Yes, the information is great to have and knowing you have the mutated gene helps you as a woman live a life proactive against the possibility of cancer.
–However, carrying around the information that your risk for developing cancer is six to eight times higher than everyone else’s is a heavy burden to carry.
A month ago I went in for my regular check up and my doctor told me about a new form of hereditary cancer screening called, MyRisk. MyRisk screens for twenty-five different gene mutations and was a simple as me giving a tube of blood. MyRisk not only screens for the BRAC1 and BRAC2 mutations, it also looks for other mutations recently linked to hereditary cancer.
Last Friday right before the doctor’s office closed for the weekend someone left me a voicemail telling me to call first thing Monday morning to meet with my doctor and then a genetic counselor. My weekend was long and hard knowing that on Monday I was going to be given a piece of paper telling me I carry one of the twenty-five mutations.
The news was not the best news I could have received but also not the worst.
I do not carry the BRAC1 or BRAC2 mutation. This is good news and I am rejoicing. Most women who carry the BRAC1 or BRAC2 mutations undergo major surgery to remove breast tissue and some women have hysterectomies at my age. This was a road both my husband and I were prepared to endure.
I carry a newly found mutated gene linked to increased risk of breast cancer called the PALB2. This mutation is currently found to only increase my personal risk up to 60%. While this is not the most perfect news I am thankful for a proactive plan.
My doctor is not recommending surgery but she is recommending screening every six months alternating between an MRI and a mammogram.
Now I get to walk in my life knowing I have this mutated gene that is apart of me. This part of me reminds me of my humanity, my blemishes and my imperfections. I have felt sick to my stomach and my eyes have cried today.
But as a believer in a good God I choose not to stay in the burden and the worry but focus on the new hope I have been given today.
Detecting the mutated gene early leaves me hopeful for early detection and in the hands of loving and caring doctors. I also have hope because of this new test made available to me, just at the right time to find my very specific mutated gene. This is the Lord’s timing to protect me. This is His provision just at the right time and I am thankful.
My husband said he wants me around for a long time. I want to be around for a long time too. I want to see my kids drive, graduate, marry, have their own kids and beyond.
There is new hope everyday for people with the risk of hereditary cancer. Everyday researchers are working to identify genes and plan treatments. I am so thankful for the advancements in medicine in the last twenty years.
There is great hope and redemption for my story.
I hope to continue to walk in hope and trust the plans God has for me (Jeremiah 29:11) and be thankful for the new hope that with the advances in medicine my story will not end in the same way my mother’s did.
Thank you for all who prayed and sent encouraging words.
He is before all things and in Him all things hold together. (Colossians 1:17)
2 thoughts on “The Burden and New Hope of Hereditary Cancer”
Rachel, this is such a touching story and hits home to me for similar reasons. I don’t share as much as I should but my little Parker has a genetic syndrome that arose from a VERY rare mutated gene. It has only been in the past two years that they have actually been able to test for it. Being proactive and prepared is hard, everyday, but as I’m always told, “knowing is half the battle.” You’re strong because of your Mom and she will continue to make you stronger for yourself and for your family. God always has a plan for us but it sometimes takes time to figure out what that plan is and more importantly why. Thinking about you and praying all will be OK as you endure ongoing testing. Big hugs!
I am really terrible at replying to comments on the blog. Really terrible. I had to go in today to approve some new ones and I am just sitting down here at my desk and really letting your words seep in. I am so sorry to hear this about Parker, but it sounds like you are doing all you can to be aware and fight for him. It is so hard knowing though, like a cloak we wear around us. The rest of the battle, showing up for ongoing testing is tough for me. Thankful my husband and friends keep me accountable, pray for me and encourage me to be proactive about my health. Community and being known by others has been key for me as I was in this. On testing days my friends will drop off ice cream, wine and flowers. And pray for my intensely anxious heart. My mom was so sick because her tumor was misdiagnosed three times. Now in 2017, with all the screening I don’t think I can have that same story as my mom. I feel like so many eyes are on me something like that could never go undiagnosed. And I am thankful for that. I miss my mom every day and do fear that her story will one day in someway be mine too- but with the advancements in medicine I know there is so much hope.
I will be praying and thinking of you and Parker. Thank you for being vulnerable and sharing this with me. I’m here and happy to be your people if you need someone on testing days.
With you, for you.