From Melanoma to Mayo: My PALB2 Plot Twist

Introduction:

Hey there! If you’ve stumbled onto my corner of the internet, welcome! This blog is my way of sharing my journey with a genetic variant called PALB2. Whether you’re a family member, a friend, or someone navigating your own genetic rollercoaster, I hope this space brings you some laughs, solidarity, and maybe even a little encouragement.

The Beginning of the Journey (aka Melanoma Strikes):

Let’s rewind to the time I was about to have a baby, and life decided to throw in a couple of curveballs for good measure. Out of nowhere, I was hit with not one, but two surprise melanoma spots—one two days before having my baby and another a week after. Nothing says “Welcome to motherhood!” like a skin cancer diagnosis, am I right?

Thankfully, both were caught early at level 0, which basically means the cancer was sitting on the surface of my skin, plotting but not yet invading (phew!). Cue the relieved sigh and a quick prayer of thanks.

A Nudge from Above (and Some Candid Doctor’s Advice):

During a postpartum check-up, one of my doctors suggested I get genetic testing at the Mayo Clinic to see if melanoma was genetic. She was speaking from her own experience and casually mentioned, “Oh, and make sure you have good life insurance before doing this.” Because nothing says “this might be serious” quite like life insurance advice, right?

My mom took the test first and came back all clear. This had us wondering if I really needed to go through with it, but my husband and I couldn’t shake the feeling (definitely God nudging us) that I should still proceed. So, I did.

The Day My World Shifted:

I’ll never forget logging into my Mayo Clinic portal and seeing the words “Genetic variant PALB2 detected.” What even is PALB2? (Turns out, it’s not a new Star Wars character.) This gene mutation means I have a 40-60% risk of developing breast cancer, along with higher risks for ovarian and pancreatic cancers. Cue the deep breaths as I processed what this meant for my future.

It’s been almost a year since that diagnosis, and while I’ve made peace with it, getting here wasn’t easy.

Breaking the News to Family and Friends:

If you’ve ever had to share big, life-changing news, you know it’s not exactly a walk in the park. Some people were incredibly supportive, while others… let’s just say, didn’t quite grasp the gravity of the situation. It was tough explaining why I was considering major surgeries for something that might happen, but in the end, I’m so grateful for the support network that did show up with empathy and love.

The Never-Ending Mayo Clinic Commute:

This past year has involved more trips to Mayo than I’d like to count. Picture this: me, with a 7-month-old baby and two older kids, trekking 1.5 hours each way, sometimes 2-3 times a week. We became very familiar with the Mayo parking garage (my kids even have favorite spots now). I think I could probably navigate that place with my eyes closed at this point!

The Road Ahead:

So, where am I now? Well, I’m currently prepping for my next big step: a breast reduction and reconstruction surgery next month to prepare for a preventative double mastectomy (DMX) with DIEP flap reconstruction in the spring, four months later. It’s a lot to process, but I’m choosing to take it one step at a time.

Finding Peace in the Chaos:

This past year has been one of the hardest of my life, but also one of the most clarifying. I’ve come to realize that having this information is a blessing—even if it doesn’t always feel like it. So, here I am, sharing my journey with you all in the hopes that it might help someone else navigating similar waters.

Thanks for reading, and if you have questions or just want to say hi, drop a comment below. Stay tuned for more updates, and maybe even a few fun detours along the way!