top of page

The Positive Gene Podcast - Episode #4: The Journey That Sparked “The Positive Gene Podcast"

The Positive Gene Podcast - Ep.4 Transcript

Links mentioned in the episode are located at the bottom of the page)


Welcome to The Positive Gene Podcast! It's Sara Kavanaugh here, your dedicated advocate for proactive well-being. Today, we're going to walk through a very personal journey, one that I hope will inspire, empower, and resonate with many of you. It's the story of my own experience navigating the world of hereditary cancer syndromes, specifically, Lynch syndrome and CHEK2.

Important Note: I am not a medical professional. My experiences and insights stem from being a hereditary cancer previvor and advocate. Always consult with healthcare professionals regarding your health decisions.


Now, you might be asking, what led me to explore genetic testing in the first place? It started in the summer of 2022. I was on a regular six-month mammogram/MRI screening due to having extremely dense breasts. With both my parents gone and my best friend grappling with a stage 1 breast cancer diagnosis, it was essential for me to go a step further. Adding genetic testing felt like the responsible thing to do.

The process began simply, filling out a detailed questionnaire about my family's health history. With a bit of detective work and some help from one of our family historians, I managed to piece together my family's cancer history, at least as best I could. To be honest, as mentioned in previous podcasts, some revelations about past cancers in my family were quite a surprise.

Weeks later, the phone rang on a seemingly normal afternoon. I stepped into my home office, grabbing a pen and sticky note from my husband's desk. My geneticist was on the line. "We have your results," she began. I braced myself.


I tested positive for two genetic mutations: Lynch Syndrome and CHEK2. And let me tell you, that was a punch to the gut. I knew about BRCA, but these? They were new territory.

MFH6?! Boy, did I have a lot to learn!

I remember my geneticist's calming voice, explaining the results, assuring me that knowledge is power. With this newfound awareness, I could now be proactive about my health.

But emotions surged, and honestly, the following days felt like a blur. Armed with a sticky note scribbled with information (which, fun fact, I miswrote one of the mutations on) but thankfully I had an inbox filled with detailed reports, I did what I do best: research.


During this research phase, I stumbled upon FORCE (, an organization that would become my lighthouse. They provided invaluable resources about my specific mutations and affirmed the guidelines and recommendations from my geneticist. So that was reassuring.

One of the more challenging parts of this journey was understanding the implications of potentially passing these genetic mutations to my children. It's a heavy weight to bear, knowing you have a 50/50 chance of passing on such a predisposition.


With my Lynch variant, MSH6, I had to think quickly about my next steps. Recommendations poured in, but one in particular stood out: a prophylactic hysterectomy and bilateral salpingo-oophorectomy. That's a mouthful, but in simple terms, it meant removing my uterus and ovaries as a preventive measure against potential cancers. The very idea felt overwhelming. I recall the first consultation with my gynecologist-oncologist, who, within minutes of our meeting, highlighted this surgery as the standard of care for someone with my genetic profile, at least as it relates to my variant, MSH6. There was a mixture of emotions – apprehension, fear, uncertainty. And yet, through consultations, support from friends, and engagement with online communities, I began to see this as an empowered choice for my future.

At my daughter's Christmas Program just days before my hysterectomy+BSO

The surgery was scheduled for December, right amidst the holiday season. The procedure, though longer than anticipated due to severe adhesions from previous c-sections, went smoothly. Recovery was its own journey, filled with physical, emotional, and psychological challenges. Lifting my 4-year-old daughter, who loves her snuggles with mommy, had to wait as I navigated post-surgery restrictions. The entire experience from the decision to post-recovery had its ups and downs, but it was a decisive step towards a future where the shadow of potential cancer loomed a little less darkly.


But my journey didn't end there, as there came moments of unexpected fear. Just a month after my hysterectomy, I discovered multiple thyroid nodules. My heart raced as thoughts of my mother, who had papillary thyroid cancer in her 50s. The emotional turmoil of potentially facing a cancer diagnosis so soon after a surgery meant to prevent another kind of cancer was, to put it mildly, staggering. And while it may or may not be directly related to my genetic mutations, the timing was impeccable.

While in the healing process from my recent surgery, I plunged into another series of medical evaluations for the thyroid nodules. These nodules turned out to be quite stubborn. I underwent ultrasounds, lymph node mapping, and a particularly painful biopsy due to the calcified nature of the main nodule. I had four nodules on one side and one on the other. The results? Inconclusive. They couldn’t get enough cells. Yet, given the suspicious nature of the calcification combined with my family history, we decided on a proactive approach: a partial thyroidectomy. Photos below from day of surgery, day after surgery and one week later when I had the bandage removed.

That waiting period after the surgery for the pathology results felt endless. Every notification on MyChart had my heart skipping a beat. But I leaned into prayer, meditation, and trust. When the results finally came in, I exhaled a sigh of relief I didn’t even know I was holding. The diagnosis? Benign. Officially "thyroid nodular disease".

This experience taught me a crucial lesson that I want to share with all of you, as it relates to the thyroid. Even if your thyroid tests are normal – like mine were, with TSH, T3, T4, and antibodies all in the clear – it doesn't mean thyroid issues are off the table. And for those wondering about thyroid nodules, while you can perform a thyroid swallowing test or neck check at home, it's not the most accurate way to identify thyroid disease. If you're concerned, I urge you to consult a professional and for more information, consider visiting


In these moments of uncertainty and fear, my faith was both challenged and strengthened. The journey, filled with its ups and downs, was overwhelming. From the emotional toll of diagnoses to the physical trials of surgeries, it was a lot to bear. And yet, amidst it all, I did find profound strength that comes from deep conviction.

I leaned heavily into my church, my community, drawing on their support and prayers. Their unwavering faith, the shared stories of resilience and hope, became my anchor. It reminded me of the collective strength we possess when we come together in faith and prayer. Every whispered prayer, every offered hand of support, brought a sense of solace and understanding. It was in these shared moments of vulnerability and unity that I truly felt the peace of God wash over me.

Being a Christian, my belief in the journey after this life is strong. But the concern about my family, especially my children, navigating life without me was daunting. These thoughts often clashed, leading to moments of deep introspection. And yet, every time I found myself lost in this maze of emotions, my faith community would guide me back, and reminded me of the greater plan and the love that encompasses all. Especially that of my family, they were wonderful through this whole experience. I am ever grateful for the gift I have of an amazing, supportive and loving family.

The entire experience deepened my connection with God and with my family…It reinforced the idea that challenges, no matter how insurmountable they seem, can be faced with faith and the support of a loving community.


Speaking of seemingly insurmountable, we are going to switch gears to talk about what that commitment looks like when it comes to screenings…Throughout this journey, it's vital to underline the importance of regular and consistent screenings. For those of us facing a hereditary cancer syndromes, this meant diving deep into a regimen of check-ups. I continue my six-month rotation for breast MRI and mammograms, ensuring that any potential abnormalities could be caught early. It's a commitment, and while MRI's aren’t the most pleasant – imagine spending almost an hour with your arms overhead – but it’s the the peace of mind it offers is priceless.

A little humor for my biennial colonoscopies!

In addition to this, I've also committed to regular skin screenings with my dermatologist, who's proficient with Lynch Syndrome. The journey with Lynch Syndrome and CHEK2 and its risks associated with colorectal cancer means understanding its ramifications, and for me, it involved setting up my colonoscopies, ensuring I stay vigilant against potential colorectal cancer risks. And continuing now to do so every two years versus the five years that I was on previously. Taking control of your health means understanding the necessity of these screenings and ensuring they're part of your health routine.


Fast forward a bit, and I’m here today, so grateful for benign test results and passionate about advocacy. The whole journey made me realize that I could make a difference. By sharing my story, I hope to provide clarity, understanding, and a touch of optimism to those who might be feeling lost or overwhelmed.

Becoming a volunteer Patient Advocate Leader with FORCE has given me a way to help others, and helped me learn to bridge the gap between complex genetic information and our day-to-day lives. And with this podcast, I hope to continue building that bridge, offering a supportive community for those facing hereditary cancer risks.

Please feel free to visit my corresponding blog to this podcast and leave any comments, thoughts or even share your story. You can find it at my website There will also be a link in the show notes.


Before we wrap up, I want to leave you with this: if you ever feel the need to consult with a genetic counselor, you can find one through the National Society of Genetic Counselors at Remember, knowledge is power, and you're not alone on this journey.

I’m Sara Kavanaugh, and this is The Positive Gene Podcast. Until next time, remember to embrace the positivity that comes from knowledge. Stay informed, stay resilient, and stay positive.

Links referenced in this episode:

11 views0 comments


bottom of page