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Writer's pictureSara Kavanaugh

The Positive Gene Podcast - Episode #3: Confronting 5 Hidden Hurdles After a Genetic Diagnosis

Updated: Dec 13, 2023

The Positive Gene Podcast - Ep. 3 Transcript

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



Overcoming Challenges like hiking Fall Creek Falls! Find more photos at bottom of this blog post!

Introduction…

Hello dear listeners, welcome back to 'The Positive Gene Podcast'. Today, we're diving into some unexpected corners that accompany a genetic diagnosis, drawing inspiration from my personal journey with Lynch syndrome and CHEK2. I'm your host, Sara Kavanaugh, and if you're a returning listener, you know that I was diagnosed only a year ago so I’ve only recently navigated the waves of emotions and realizations that come with a genetic diagnosis. If you're new here, you're in for an insightful episode, as we dive deep into the unexpected curveballs of genetic diagnoses.



First unexpected challenge is Life Insurance…


You might've heard that life insurance could get a bit tricky post-diagnosis. But here’s the nitty-gritty: The Genetic Information Nondiscrimination Act, or GINA for short, is our protector when it comes to health insurance. GINA prohibits discrimination by health insurance plans and employers based on genetic information, which encompasses your genetic test results, your relatives’ genetic test results, and information about family history of any disease or disorder. In a nutshell, it stops health insurers and employers from discriminating based on our genetic information.


However, the catch is it doesn’t cover life or long-term care insurance. So, some states have stepped up with their own laws, and that's something worth looking into. And hey, if you're curious about these policies, especially for groups like the military or federal employees, the National Human Genome Research Institute is a great place to delve deeper. I will have links in the show notes for more information.


The second unexpected challenge is Family Testing…


FORCE shares insights on sharing your news with family “...In some families cancer may be considered very private matters never to be discussed. Some family members may believe it is bad luck to talk about cancer, or that speaking about cancer may invite the disease and make it more likely to happen. Family alliances, beliefs about protecting children, and privacy concerns may all affect your ability to share health information with relatives.”


While exploring my family history, I discovered that a relative had battled what they referred to as a 'female cancer' over half a century ago. No one ever mentioned it as I was growing up. I'm deeply grateful that a living family member from that side was open and shared this history when I reached out.

When the moment comes to share the news and you're uncertain about the reactions, keep in mind that a genetic counselor can be an invaluable resource. Additionally, online platforms offer support: FORCE has insightful content on the significance of sharing with family, and if it's breast cancer-specific, the CDC's 'Bring Your Brave' Campaign boasts very informative videos (link provided in the podcast notes).


Also, the roller-coaster of emotions about testing isn't limited to just us and our family history. Breastcancer.org has shared some valuable insights on this, emphasizing how our relatives might respond differently. They said, "A positive genetic test can stir a myriad of emotions in a family…Some might dive into testing immediately, while others could choose to wait it out or even decide against it.”


Speaking from my personal journey, I can vouch for the complexity of these decisions since my experience has been a mixed bag. One of my siblings took their time before deciding to test, and luckily they didn’t inherit either gene. Yet, another sibling chose not to test…for now anyway, as this it doesn’t mean I won’t stop reminding them!


It's a personal journey for everyone, and as said in my previous podcast, patience is crucial.


As far as testing children, we will discuss this in a future episode.



The third unexpected challenge is Overwhelming Screenings…


The constant screenings, both emotionally and financially, can feel like a mountain too high to climb. I remember the dread of my first screenings post-diagnosis. As someone already faced with a history of health anxiety, it was scary… I found it difficult to focus on the day to day because I was overcome with worry about the results. But know this, it does get easier.


Consistent screenings and a balanced lifestyle can mean early detection, making the fight against cancer more manageable. While awaiting results, distraction can be therapeutic. For me, it's about spending time with loved ones or indulging in a hobby. And if you’re looking for a strategy, there's some brilliant advice out there. Some activities I’ve engaged in include spending time with family, indulging in self-care, or even engaging in volunteer work.


Also, engaging in cancer risk management can be empowering. It’s all about weighing options, from regular surveillance to preventive surgeries. This isn't just me speaking; research backs this up, like the insightful study published in the Journal of Applied Communication Research.


Drawing from their research on breast cancer risk management, they said, ”Previvors have unique needs. They can engage in cancer risk management, making decisions that consider medical benefits and personal factors. Options include increased surveillance, like clinical breast screening, chemoprevention to delay cancer development, and preventive surgeries such as a mastectomy or removal of ovaries to reduce cancer risks." Citation: Marleah Dean & Carla L. Fisher (2019).


Remember, every screening is a step toward staying ahead of your health.



The fourth unexpected challenge is Family Planning…


A genetic diagnosis might make you reconsider family planning. The fear of passing on the mutation, the concern for potential kids' health…honestly, all of it can be daunting. If you have an inherited cancer gene, there is a 1 in 2 (50%) chance that any child you have could inherit it from you.


According to McMillan Cancer Support in the UK, “Many people choose to have children and accept that the child may have a higher cancer risk. They may feel the child will have the same or perhaps better ways to manage that risk when they grow up. If you have an inherited cancer gene and want to be sure you do not pass it on to any children, sometimes other options are available.” I will provide their information in the show notes.


So if you’re at this stage, future planning can feel like navigating a maze after a genetic diagnosis. It is essential to have open conversations and weigh all options with your spouse or partner. Do your research and give yourself space and grace to come to a decision when you’re ready.


As a mother of two - I can’t help but wonder - had I known earlier, would my choices have been different? The love and joy my children bring me are immeasurable, but the weight of the “what ifs” regarding their genetic makeup can be overwhelming at times.


While the future remains uncertain, advances in medical science give me hope for a brighter tomorrow.



The fifth and final unexpected challenge is Feeling Isolated…


It's tough when it seems like no one understands the whirlwind of emotions you're going through. Isolation can be a heavy cloud after a diagnosis.

When I shared my journey on Facebook, the outpour of support from fellow mutation carriers was incredible. There are several supportive communities online, like the Lynch Syndrome and CHEK2 groups on Facebook I mentioned previously, where individuals truly understand your concerns. If you’re on Facebook, type your specific genetic mutation into the search bar and select the group. Most are private, so sharing your information or getting feedback on questions are only seen within the group.


Also, my go-to resource is FORCE. From Peer Navigators to online or in-person support groups, online message boards, and even helplines, where they offer nonjudgmental support in Spanish and English. If you're feeling isolated, I highly recommend visiting the support tab on their website - facingourrisk.org.


Always remember, you're not alone. There are communities, including ours, that understand and support each other.



In Closing…


A diagnosis can sometimes feel like a storm cloud looming, but remember, it’s merely a chapter in your life, not the entire story. The essence lies in our response. My empowerment blossomed through knowledge, research, the warmth of supportive communities, and the guiding light of my faith. God’s strength and grace have been my anchor, reminding me of His bigger plan even in moments of uncertainty. Every test, every screening, even the preventative surgeries — they weren't just medical decisions, but acts of faith and determination to live life fully.


In this journey, remember to lean on your support system, be it family, friends, or a community like ours. Every challenge offers a lesson, and every setback is a setup for a stronger comeback. You’ve got this, friends!


If you’d like to learn more or interested in having me speak about living with a hereditary cancer syndrome from the patient's perspective, head over to my website at sarakavanaugh.com and tap on the 'Speaking' section.


For more insights from today's episode, swing by the episode blog at sarakavanaugh.com or check out the show notes for all the specifics.


Until next time, stay informed, stay strong, and always keep that positivity shining.


Links referenced in this episode:

  • www.facingourrisk.org (FORCE - Facing our Risk of Cancer Empowered)

  • https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/sharing-with-family/importance-of-sharing

  • https://www.cdc.gov/cancer/breast/young_women/bringyourbrave/hereditary_breast_cancer/talking-family-history.htm

  • https://www.ashg.org/advocacy/gina/

  • https://www.facingourrisk.org/support

  • https://www.breastcancer.org/genetic-testing/family-relationships

  • https://www.jou.ufl.edu/wp-content/uploads/2019/08/Dean-Fisher-2019.pdf



Copyright © 2023, Sara Kavanaugh. All rights reserved.

All content on this blog, including text, images, and any other original works, unless otherwise noted, is the sole property of Sara Kavanaugh and is protected under international copyright laws. No part of this blog may be reproduced, distributed, or transmitted in any form or by any means, including photocopying, recording, or other electronic or mechanical methods, without the prior written permission of the author, except in the case of brief quotations embodied in critical reviews and certain other noncommercial uses permitted by copyright law. For permission requests, write to the author at sara@sarakavanaugh.com.

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