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Episode summary In May 2022, at 30 years old, Jaclyn found a lump in her breast. Her doctor, seeing no family history and a young, healthy patient, suggested she wait a week and see if it was still there. Jaclyn didn't take no for an answer — she asked for a mammogram, and within a single day learned she had DCIS, an early-stage breast cancer. What came next moved at a speed she describes as "medical timeline on fast forward": genetic counseling that flagged something didn't add up in her family's supposedly cancer-free history, a large genetic panel that turned up a mutation called BRIP1, and, within the same week, her first round of IVF — all while she was still absorbing a cancer diagnosis. She spent that period, by her own account, floating somewhere above her body, letting her husband and parents carry her through appointment after appointment she wouldn't fully remember.   Three and a half years later, Jaclyn is cancer-free and the mother of identical twin girls — conceived from an embryo deliberately selected because it didn't carry her mutation, after she and her husband chose to genetically test their embryos and donate the ones that did carry BRIP1 to research. But the story doesn't end at "healthy and healed." This conversation moves through the grief that arrived late — the loss of a body part, the inability to breastfeed after mastectomy, a complicated twin pregnancy and NICU stay — and what it looks like to keep choosing ongoing surveillance and hard conversations as an act of care for herself and, eventually, her daughters. We cover Finding a lump at 30 with no known family cancer history, and having to push back when her doctor initially said to wait a week A single-day whirlwind of biopsies, scans, and an MRI that ended in a DCIS diagnosis — and the geneticist's suspicion that her family's "clean" history didn't check out Testing positive for BRIP1, a lesser-known mutation linked to ovarian and, sometimes, breast cancer, after ruling out BRCA1 and BRCA2 Starting IVF and fertility preservation in the middle of active cancer decision-making, and the dissociation of moving through a medical timeline the psyche couldn't keep pace with Double mastectomy and reconstruction, and the delayed grief around body image and body-part loss that surfaced years later, not in the moment Cascade testing within her family after her diagnosis — her mother testing positive, other relatives testing positive and negative, and the mutation's origin finally coming into view The decision to genetically test their embryos, implant the healthiest one free of the mutation, and donate the affected embryos to research rather than discard them A complicated twin pregnancy with preeclampsia, a month-long NICU stay, and repeated medical-system triggers around being asked whether she'd breastfeed Living with ongoing surveillance for ovarian cancer risk — blood tests and ultrasounds every six months — and the double-edged nature of knowledge as both power and weight Reframing surveillance and testing as something she "gets to" do rather than "has to" do, and what it means to parent from that place Highlights & takeaways "This doesn't check out." — the geneticist's response to her family's reported cancer-free history "You get to do this. You don't have to." — her therapist's reframe of ongoing screening and testing "If we know better, we could do better." — on the decision to genetically test their embryos "No one gets through life unscathed. This is just a part of my body now." "Different and hard. Different and hard." — on honoring every version of this diagnosis, whether it comes with cancer or without it "It's learning that joy can exist with grief... vulnerability is sacred and stories are medicine." — quoted from Wildfire Magazine Content note This episode names a breast cancer diagnosis (DCIS), genetic mutation results, mastectomy and reconstruction, IVF and embryo genetic testing, a high-risk twin pregnancy with preeclampsia and a NICU stay, medical-system triggers around infant feeding after mastectomy, body image grief, and family cascade testing. Resources mentioned FORCE (Facing Our Risk of Cancer Empowered) — referenced as a resource for hereditary cancer support LIVESTRONG Fertility — fertility preservation support for cancer patients The Chick Mission — fertility preservation grants for cancer patients The Bresties — support community for previvors and survivors who are unable to breastfeed Bobbie — infant formula company partnering with The Bresties to provide formula for cancer patients and previvors Wildfire Magazine — publication for previvors, survivors, and the hereditary cancer community Connect If this episode moved something in you, follow, rate, and share Walking the Genetic Line — it helps this conversation reach the people who need it. Follow Sara Champie, LCSW at @SaraChampieLCSW for more. Let's walk this line, together. Additional support If this episode brought up grief around body image, fertility decisions, or navigating a genetic mutation in real time, you don't have to sit with it alone. Sara Champie, LCSW offers trauma-informed therapy for people navigating hereditary cancer risk, genetic testing decisions, and preventive or reconstructive surgery.

EPISODE SUMMARY Kathy Baker grew up in a family that, as she puts it, "looked like a poster for a BRCA mutation" — a sister diagnosed with breast cancer at 31, a mother with three primary cancers, a grandfather lost to aggressive prostate cancer, a great-grandmother lost to pancreatic cancer. And still, when genetic testing became available, Kathy said no. Not out of denial exactly, but out of a fierce instinct to protect her own life from being lived under a shadow. She was diagnosed with breast cancer herself in 2000, treated without ever seeing an oncologist first, and then spent nine years declining the genetic testing her oncologist gently, patiently kept raising — until a single statistic changed her mind. What happened next is the kind of story that reframes what "protective" actually means. Kathy tested positive for a BRCA1 mutation alongside her sister, honored a promise to her dying mother, and underwent ten hours of piggybacked surgery with three surgeons working in tandem — only to learn, mid-procedure, that she already had early-stage ovarian cancer no one knew was there. It's a story about the long, human runway between having information and being ready to use it, and about what Kathy built afterward: a nonprofit that funds the testing other people can't yet afford, or aren't ready, or don't know they're allowed to ask for.   WE COVER Growing up in a family history so dense with cancer it reads like a genetics textbook — and why that didn't automatically translate to testing Kathy's decision, in her twenties and thirties, not to pursue early mammograms or testing: "I didn't want to live in fear of cancer" Her 2000 breast cancer diagnosis, the surgery choices she made without a genetic counselor in the room, and what she'd do differently in hindsight The nine years her oncologist quietly kept raising genetic testing — and the study that finally moved her to say yes Testing BRCA1 positive alongside her sister, and the promise she made her dying mother to pursue risk-reducing surgery The ten-hour, three-surgeon surgery that uncovered an early ovarian cancer no one expected to find Founding My Faulty Gene in 2020 to fund germline genetic testing for people who fall outside insurance criteria Why cascade testing — testing the family members of someone with a known mutation — is Kathy's central focus, and why fewer than 10% of relatives ever follow through The emotional and family-system barriers underneath low cascade testing rates: avoidance, fear, and families that don't talk about hard things Real-world access barriers: the cost of testing, the lack of paid leave for self-employed patients, and life insurance underwriting for known mutation carriers   HIGHLIGHTS & TAKEAWAYS "Not knowing doesn't change whether you have it or not. All it changes is how you can respond — and whether you respond." "I've already told you I'm not that compliant patient... I am not somebody who would have presented with the vague symptoms of ovarian cancer. I would not be here." "I was spared for a reason. I really believe that." "How can I not? I've been given a great gift. How can I not?" On persuading reluctant family members: "Everyone knows when they see me that I'm coming to talk to them." "If you have the ability to go and buy a $300 purse, spend that money this month on your own testing."   CONTENT NOTE This episode names breast cancer diagnosis and treatment, an unexpected ovarian cancer discovery, a parent's death from cancer, major risk-reducing surgery (double mastectomy, hysterectomy, bilateral salpingo-oophorectomy), family history of multiple cancers across generations, financial strain during cancer treatment, life insurance discrimination against mutation carriers, and the host's own disclosure of losing her mother to ovarian cancer at age ten.   RESOURCES MENTIONED My Faulty Gene — myfaultygene.org — Kathy's nonprofit, funding germline genetic testing for patients who don't meet insurance criteria for coverage Family Gene Share — familygeneshare.org — an educational video series of patient stories, created to help families start cascade testing conversations FORCE (Facing Our Risk of Cancer Empowered) — referenced as an ally organization in the hereditary cancer space OCRA (Ovarian Cancer Research Alliance) — referenced as offering limited free testing under specific guidelines J Screen — genetic testing and counseling partner organization KIC (Knowledge is Cancer's Kryptonite) — partner organization referenced in the episode The Metcalf study — research on ovarian cancer risk in BRCA1/BRCA2 carriers, referenced as the turning point in Kathy's decision to test Connect If this episode moved something in you, follow, rate, and share Walking the Genetic Line — it helps this conversation reach the people who need it. Follow Sara Champie, LCSW at @SaraChampieLCSW for more. Let's walk this line, together. Additional support If this episode brought up grief, fear, or decision fatigue around your own genetic risk or family history, you don't have to sit with it alone. Sara Champie, LCSW offers trauma-informed therapy for people navigating hereditary cancer risk, genetic testing decisions, and preventive or reconstructive surgery. Sara Champie

EPISODE SUMMARY Sharsheret is the Hebrew word for chain. Not a ribbon, not a fight, not a cure — a chain. Twenty-five years in, that name turns out to be the most precise available description of the work: over 40,000 people who have shared their experience, peer matches made not by mutation status but by the specific thing you are afraid of, social workers and genetic counselors who answer the phone, pre- and post-surgery kits arriving at the house wrapped and unbilled, and more than a million dollars a year moving quietly toward the non-medical costs that make a diagnosis expensive in ways no one warns you about. One story in this conversation holds the whole thesis: a family that did not talk about cancer, a mother who died of ovarian cancer at 63, a daughter who had tested negative and considered the matter closed — and then a facilitated call where nine siblings, cameras off, began comparing notes and discovered a family history none of them had individually been able to name. Months later, one of them was recovering from surgery. What this conversation opens up is the part of hereditary risk that lives in the family system rather than the chart. Disclosure is not an information transfer; it is a negotiation with estrangement, obligation, guilt, and the relative who says I don't want to know. New reproductive technology does not relieve responsibility so much as redistribute it — including onto the partner who carries the mutation and watches someone else's body absorb the procedures. And for Ashkenazi Jewish families, where one in 40 carries a BRCA mutation compared with roughly one in 400 in the general population, all of this lands inside a community identity already built around endurance, at a moment when that community is under additional strain. Picture the High Holidays: a liturgy that asks aloud who shall live and who shall die, recited in a room where you are the only one who knows there is a surgery on your calendar.     WE COVER The chain as infrastructure, not metaphor: How one organization built a parallel system for everything the medical appointment structurally cannot hold — one-on-one support, community education, and direct financial assistance for the non-medical costs that quietly determine whether people can follow through on care. Peer matching by fear, not by gene: Why being connected to someone who shares your mutation is not the same as being connected to someone who shares your specific concern — fertility, timing, surgical recovery, going back to work — and why the second one is what actually reduces isolation. The family call that broke a generational silence: Nine siblings, cameras off, a mother lost to ovarian cancer at 63, and a "negative" result that had prematurely closed the conversation — an example of intergenerational emotional inheritance surfacing only when someone outside the family system holds the container. Disclosure as a relational act: The push-pull of telling family members you may have handed them something, the relative who refuses the information, the sibling whose number you don't have — and what it takes to draft that text when the relationship itself is the complication. Why the oophorectomy frightens people more than the mastectomy: Surgical menopause arriving overnight, the absence of reliable ovarian cancer screening, the fallopian-tube-first approach for younger patients, and the osteoporosis and cardiovascular trade-offs that make this a genuine decision rather than an obvious one. Testing after diagnosis, not only before it: The persistent belief among survivors that genetic information no longer matters once cancer has already arrived — and why treatment protocols, panel testing for CHEK2, PALB2, ATM, and Lynch syndrome, and family implications say otherwise. Embryo screening and the arrival of new guilt: Preimplantation genetic testing as a real option and a real weight — what happens when every embryo returns positive, how partners who carry the mutation experience watching, and the specific ache of people who would have chosen this if it had existed. Cultural identity as clinical context: Education and the protection of life as community values, materials adapted for communities that will not print the word breast, the High Holidays as a time-based emotional reactivation, and the post-October 7th experience of carrying a diagnosis you cannot burden your family with. The waiting room: The stretch between the test and the result treated as its own event rather than dead time — because the mind will write a full-length novel in that gap if left alone with it.     HIGHLIGHTS & TAKEAWAYS The urge to help other people is often the first thing to come back online after a diagnosis, and it frequently arrives before you have received anything yourself — which is worth noticing, because it can look like recovery when it is actually the responsibility reflex resuming its post. Fear does not scale to the size of the incision; it scales to what the procedure threatens, which is why a laparoscopic surgery can be more terrifying than a mastectomy and why dismissing that as irrational misses the entire point. A negative result is not always the end of the story — medically, because family history still counts, and emotionally, because relief does not automatically reach the parts of you that have been braced since childhood. Silence in a family is rarely about the information itself; it is about what that family has learned to do with feeling, which is why a single facilitated conversation can surface a history nine people were each privately holding. More options do not automatically produce more freedom — when the choices are irreversible and the outcomes are probabilistic, expanded agency can arrive as expanded exposure to blame. The waiting is not a preamble to the experience; it is part of the experience, and the fact that it has no medical name does not mean your nervous system is not running the whole time.     CONTENT NOTE This conversation includes discussion of cancer diagnosis and the death of a parent from ovarian cancer, mastectomy and ovary-removal surgery, surgical menopause and hormonal changes, weight and body changes, fertility treatment and decisions about embryos, family estrangement and difficult disclosure conversations, and the financial cost of cancer care. It also includes discussion of antisemitism and the strain many Jewish families experienced after October 7th, 2023. If any of these are close to the surface for you right now, you may want to choose your moment for this one.     RESOURCES MENTIONED Sharsheret — sharsheret.org | Toll-free: 866-474-2774 | Instagram: @sharsheretofficial National organization providing free one-on-one support, peer matching, genetic counseling, community education, and financial assistance for people and families facing hereditary breast and ovarian cancer risk or diagnosis. Rooted in the Jewish community and open to everyone. Sharsheret's Peer Support Network — Matching based on your specific situation and concerns, not just mutation status; can be done anonymously. Sharsheret's pre- and post-surgery kits — Free, mailed to your home, developed and updated based on what people going through surgery said they wished they'd had. The Waiting Room (Sharsheret) — Support during the interval between testing and results. The Mammogrant (Sharsheret) — A giving program tied to mammogram appointments. JScreen — Sharsheret's partner for accessible, lab-based at-home genetic screening. Face the Risk Together support groups — sarachampielcsw.com FORCE (Facing Our Risk of Cancer Empowered) — facingourrisk.org — national organization for hereditary cancer advocacy and peer support National Society of Genetic Counselors (NSGC) — nsgc.org — find a certified genetic counselor for hereditary cancer risk   If this conversation resonates, follow, rate, and share the show. Find Sara Champie on IG @SaraChampielcsw and sarachampielcsw.com for free resources and access to 1:1 and group support. You already speak this language — come walk the genetic line with us. Sara Champie

Episode Summary A visible tumor changed two lives at once. When Holly Taylor's sister was diagnosed at 45 with simultaneous stage 3 ovarian and breast cancer — tumors large enough to see with the naked eye, discovered only after years of avoiding care without health insurance — genetic testing entered Holly's life as an extension of her sister's crisis rather than a decision of her own. An initial variant of unknown significance sat unresolved for two years before being reclassified as a pathogenic BRCA1 mutation, arriving in the middle of a four-and-a-half-year caregiving arc that ended with her sister's death at 49. What distinguishes this conversation is the specific chain of medical experiences that shaped Holly's relationship to authority long before BRCA entered the picture — a breast surgeon she describes as feeling like a car salesman, and years earlier, a psychiatric medication reaction so severe it produced akathisia, a ninety-pound weight change, and physical withdrawal no provider had disclosed as possible. That history didn't produce paranoia so much as a working filter for distinguishing performed certainty from actual informed consent — one she now applies to every scan, every surgeon, and eventually to a spiritual practice that let her set down the belief that her survival depended on how much she could personally control. We Cover •       Testing by proxy: how Holly's genetic testing was triggered by her sister's diagnosis rather than her own inquiry, and what it means to receive a hereditary risk result while still inside someone else's medical crisis. •       The VUS-to-pathogenic reclassification: living for two years in a "high risk" limbo zone before a lab update — prompted by an unrelated family's data in France — converted an ambiguous result into a confirmed BRCA1 mutation. •       Recognizing performed certainty: the consultation where a breast surgeon quoted a single risk-reduction number with total confidence, and how Holly's read of that certainty as a defense against uncertainty, rather than as informed consent, shaped her decision to pursue surveillance over preventive mastectomy. •       Medical trauma predating BRCA: two near-fatal reactions to psychiatric medication changes, including akathisia, a stack of additional prescriptions to manage the original reaction, and undisclosed withdrawal effects, and how that history became the template for evaluating every subsequent provider. •       The caregiver-to-patient collapse: Holly's own first breast biopsy landed in the middle of caring for her sister through a cancer recurrence, illustrating how a family's crises can stack faster than a nervous system can metabolize them. •       Finding specialist care after generalist gaps: the difference between an OB-GYN and a primary care provider managing BRCA surveillance versus a high-risk clinic built specifically around genetic mutation carriers, and what changes clinically and emotionally when a provider's caseload matches the condition. •       Research as a control strategy: the years spent diving into scientific literature after every anxious scan cycle, and the moment Holly recognized that intellectual mastery was standing in for a felt sense of safety she didn't yet have. •       Faith as an exit from existential dread: how a return to Christian practice, distinct from her earlier general spirituality and twelve-step involvement, became the mechanism that resolved a fear no amount of research had touched. Highlights & Takeaways •       Paranoia and hard-earned wisdom can look identical from the outside, and the difference is not whether you're on guard but whether that vigilance is actually tracking your own evidence. •       Deferring to a doctor's certainty in the moment can feel like trust, when it's actually the same abdication of agency that shows up anywhere authority asks you to override what you already know. •       Researching every study you can find can function less as preparation and more as an attempt to out-think a fear that was never really about information. •       The line between a provider who has all the answers and one who has none of them isn't fixed — it moves as your own history with medicine accumulates, and you're allowed to keep re-drawing it. •       Choosing surveillance instead of surgery isn't a lesser decision than choosing surgery; both can come from the same discernment, just pointed in different directions. •       Peace that arrives through faith, twelve-step recovery, or any other vehicle isn't a replacement for medical vigilance — it's what makes it possible to hold uncertainty without needing to control every version of the outcome.  Content Note This episode includes descriptions of a family member's cancer diagnosis, prolonged caregiving, and death, along with a detailed account of a severe adverse reaction to psychiatric medication, including significant weight change and physical withdrawal. It also touches on a breast biopsy, surgical consultations, and ongoing screening for hereditary cancer risk, as well as a personal account of Christian faith and spiritual practice. Resources Mentioned •       Ambry Genetics: ambrygen.com — the lab that conducted Holly's genetic testing and later reclassified her results •       The Upper Room: upperroom.org — the Christian devotional Holly's mother gave her that began her return to faith •       Face the Risk Together support groups: sarachampielcsw.com •       FORCE (Facing Our Risk of Cancer Empowered): facingourrisk.org — national organization for hereditary cancer advocacy and peer support •       National Society of Genetic Counselors (NSGC): nsgc.org — find a certified genetic counselor for hereditary cancer risk Connect If this conversation resonates, follow, rate, and share the show. Find Sara Champie on IG @SaraChampielcsw and sarachampielcsw.com for free resources and access to 1:1 and group support. You already speak this language — come walk the genetic line with us. Sara Champie

Guest: Marleah Dean Kruzel, PhD Theme: Uncertainty as a Lifetime Companion, Not a Problem to Solve Episode Summary Marleah Dean Kruzel was 8 years old when her mother found a lump. What followed were years of surgeries, chemotherapy, radiation, and a childhood lived largely in hospitals — experiences that eventually became the foundation of a research career dedicated to understanding what previvors actually go through, and what the systems meant to support them consistently fail to provide. She tested positive for BRCA2 in 2013, after letting the test kit sit in the back of her safe for nearly a year — not out of avoidance, but out of a researcher's clear-eyed understanding that knowledge changes everything, and she needed to be ready. What emerges across this conversation is a portrait of uncertainty as something that doesn't peak and resolve, but cycles. Marleah traces the way uncertainty shifts shape over time: first arriving as danger to be reduced, then reassessed as opportunity, then quietly becoming danger again as surveillance continues and triggers accumulate — a family member's diagnosis, a milestone birthday, a celebrity death, a child turning the age you were when everything changed. The scansiety, the waiting room loneliness, the family planning decisions made under incomplete information — these aren't aberrations. They're the terrain. And until the support systems around previvors are built to hold a lifetime, not just a test result, the gap will keep swallowing people whole.   We Cover •       Uncertainty as a Lifetime Variable, Not a Crisis Moment: Why framing genetic testing as empowering misses the ongoing psychological labor of managing probabilistic, ambiguous, and constantly evolving information across decades of surveillance and decision-making. •       How Uncertainty Shifts from Opportunity to Danger: Research findings on how previvors initially appraise uncertainty as something to work with — and how distressful triggers over time cause that appraisal to collapse into threat. •       The Scansiety Cycle and What Actually Helps: Marleah's personal account of managing anxiety around screening appointments, including the social support rituals, mental preparation, and post-scan self-care practices that took years to develop. •       The Age-and-Diagnosis Trigger: How approaching the age at which a parent or relative was diagnosed activates a distinct category of anticipatory grief — and why Marleah's son's 8th birthday hit harder than she expected. •       Logical vs. Emotional Decision-Making in Previvor Care: Why decisions about prophylactic surgeries and family planning cannot be made from NCCN guidelines alone, and what happens when providers treat evidence-based timelines as emotionally neutral. •       Social Media, Information Overload, and the Patient–Provider Gap: What Marleah's research reveals about how previvors actually use social media for information and support — and why clinicians who ignore that are missing what's happening between appointments. •       The FORCE BOST Framework for Evaluating Online Health Information: A practical tool for critically assessing whether health content is biased, overblown, shared by an amateur, sales-focused, or taken out of context. •       What Previvors Actually Need After Testing Positive: The post-counseling gap: what's missing structurally, and why the assumption that a positive result comes with a clear roadmap is one of the most persistent failures in hereditary cancer care.   Highlights & Takeaways •       Testing positive doesn't end uncertainty — it opens a new chapter of it. The question isn't whether uncertainty will be present; it's whether you have the relational and psychological tools to live alongside it without being consumed by it. •       Anxiety at surveillance time isn't irrational. It's the body responding to what already happened — to a childhood spent in waiting rooms, to a parent's changed body, to years of carrying something that can't be put down. Naming that difference matters. •       The decision to delay surgery when you're not emotionally ready isn't a failure of logic. It's logic and emotion both operating correctly. Marleah knows what the guidelines say and isn't ready anyway — and that is its own kind of self-knowledge. •       Emotions hit at 2 AM, not during the appointment. Any model of patient support that only exists inside the clinical encounter is missing most of where the psychological weight actually lands. •       You make the best decision you can with the information you have at that time. That's not resignation — it's the only honest thing. And it's the difference between living inside the uncertainty and being crushed by it.   Content Note This episode includes discussion of a parent's breast cancer diagnosis experienced in childhood, prolonged family exposure to cancer treatment including surgery, chemotherapy, and radiation, and the ongoing emotional weight of BRCA2 previvor status across more than a decade of surveillance. Marleah also speaks directly about intergenerational guilt and the decision-making complexity around prophylactic surgery and family planning. Listeners navigating their own active risk management or recent results may want to listen in stages.   Resources Mentioned Guest Resources •       Marleah Dean Kruzel, PhD: Associate Professor, University of South Florida; Collaborator Member, Moffitt Cancer Center. Website: marleahdeankruzel.com | LinkedIn: Marleah Dean Kruzel | YouTube: search Marleah Dean Kruzel for research talks and presentations. •       FORCE BOST Framework: A tool for critically evaluating online health information: Biased, Overblown, Shared by an amateur, Sales-focused, Taken out of context. Available through facingourrisk.org. Standard Resources •       Face the Risk Together Support Groups: sarachampielcsw.com •       FORCE (Facing Our Risk of Cancer Empowered): facingourrisk.org — national organization for hereditary cancer advocacy and peer support •       National Society of Genetic Counselors (NSGC): nsgc.org — find a certified genetic counselor for hereditary cancer risk   Connect If this conversation resonates, follow, rate, and share the show. Find Sara Champie on IG @SaraChampieLCSW and sarachampielcsw.com for free resources and access to 1:1 and group support. You already speak this language — come walk the genetic line with us. Sara Champie

Guest: Natalie Samson Hart, MS, CGC, INHC Theme: Genetic Counseling as a Gateway to Whole-Person Care   Episode Summary Natalie Samson Hart didn't come to oncology genetic counseling through a tidy career trajectory. She came through loss, confusion, and proximity to illness — a brother whose neurodivergence led her toward the intersection of science and human connection, a father diagnosed with stage 4 cancer while she was still in graduate school and rotating through cancer wards. That collision of the personal and professional is what eventually pushed her out of traditional hospital settings and toward founding Golden Genetics, a practice built on the premise that a six-page genetic report means almost nothing without the relational and integrative context to hold it. What surfaces throughout this conversation is a tension most patients never get to name: the difference between receiving information and actually being able to use it. Natalie speaks to the quiet crisis that happens after the second genetic counseling appointment — when results have been delivered, the portal notification sits unread, and no one has called to ask if the patient actually scheduled the surgery or the screening. It's in that gap — between knowing and doing, between information and integration — that the real work lives. And it's exactly where the standard model fails.   We Cover •       The Genetic Counseling Pre-Test Gap: Why seeing a genetic counselor before testing — not just after — changes everything, and how the absence of pre-test counseling leaves patients blindsided by results they never chose to receive. •       Negative Results and Unresolved Grief: The counterintuitive psychological weight of a negative genetic test when cancer runs deep in a family: a lack of answer, not a clean bill of health. •       Agency as Trauma Prevention: How the way genetic information is delivered — with or without relational attunement, with or without patient choice — can be the difference between a neutral medical event and a traumatizing one. •       The Responsibility Reflex in Risk Management: Why patients who "eat perfectly" and do all the right things are often the most overwhelmed, and how perfectionism around cancer prevention can itself become a source of chronic stress and nervous system dysregulation. •       Integrative Genetic Counseling vs. Standard Care: How Natalie's practice at Golden Genetics adds nutrigenomics, lifestyle counseling, and longitudinal follow-up to expand what genetic counseling can hold. •       The Siloed Care Problem: The systemic gap when oncologists, genetic counselors, therapists, and integrative practitioners don't talk to each other — and what it costs patients who are left playing telephone between providers. •       Who Should Pursue Genetic Counseling: Concrete indicators for cancer genetic testing — family history patterns, age of diagnosis, related cancer types — alongside a broader call for early, proactive genetic literacy. •       Nutrigenomics and the Systems Biology Approach: What it means to look at low-risk genes not in isolation but in relationship to each other — including a clear-eyed correction of common MTHFR misinformation.   Highlights & Takeaways •       A positive genetic result can function as a permission slip — releasing blame, opening insurance access, and paradoxically restoring a sense of agency. A negative result, when cancer saturates a family, can land as a lack of answer rather than a relief. •       The behavior matters less than what's driving it. If cancer prevention practices are rooted in self-punishment and fear rather than self-alliance, the nervous system is registering threat regardless of how clean the diet is. •       The genetic counselor stands at the gateway — not to sort patients into risk categories, but to offer them enough information to make an actual choice about whether they want to know more. No one should have to receive life-altering results they never consented to receiving. •       The real work often happens after the second appointment. When the portal sits unopened and the surgery goes unscheduled, that's not avoidance or failure — it's a nervous system that hasn't been supported through the integration phase. •       Genetic information can become a form of identity — a way of finally understanding something that felt like a flaw or a mystery about yourself. When interpreted carefully, that recognition can soften self-attack into self-understanding.   Content Note This episode includes discussion of stage 4 cancer diagnosis and a parent's prognosis, the psychological weight of negative genetic test results in families with significant cancer history, and the emotional aftermath of receiving unexpected genetic information without adequate preparation. Listeners navigating their own recent diagnosis or test results may want to listen in smaller segments.   Resources Mentioned Guest Resources •       Golden Genetics: Natalie's integrative genetic counseling practice. Website: goldengeneticshealth.com | Email: [email protected] | Book a call through the website. Standard Resources •       Face the Risk Together Support Groups: sarachampielcsw.com •       FORCE (Facing Our Risk of Cancer Empowered): facingourrisk.org — national organization for hereditary cancer advocacy and peer support •       National Society of Genetic Counselors (NSGC): nsgc.org — find a certified genetic counselor for hereditary cancer risk   Connect If this conversation resonates, follow, rate, and share the show. Find Sara Champie on IG @SaraChampieLCSW and sarachampielcsw.com for free resources and access to 1:1 and group support. You already speak this language — come walk the genetic line with us. Sara Champie

Guest: Krista (Oncology Nurse Navigator) Theme: Self-Advocacy, ATM Mutation, Cancer After Previvorhood   EPISODE SUMMARY When Krista's mother was 48, she became the first known cancer diagnosis in their family. She tested negative for BRCA mutations and felt relief — relief that she wouldn't pass anything on to her children. Twelve years later, just before entering hospice, she was offered expanded genetic testing and found out she carried a pathogenic ATM variant. She shared those results with her children. A few months after her death, Krista — 38 years old, a nurse, carrying twelve years of hospital vigils and treatment complications in her body — went in and requested her own testing. What unfolds from that appointment is a story about what it actually takes to move through a healthcare system that doesn't know your mutation, that tells you the abnormality on your MRI is a lymph node, that sends you home with "come back in six months." Krista pushed for a biopsy that three specialists told her she didn't need. She was right. Her cancer diagnosis arrived two weeks before her scheduled preventive surgery. She now works as an oncology nurse navigator, walks patients through the same system she had to fight, and has built an educational platform for the hereditary cancer community — shaped entirely by what she wasn't told when she needed it most. WE COVER Testing too late, too little: Why Krista — a nurse with two generations of breast cancer in her family — was never offered genetic testing for twelve years, and what that delay meant for her outcomes. The self-advocacy paradox: The tension of knowing something is wrong, having a medical background, identifying as a people-pleaser, and still having to push three specialists who said she was overreacting. ATM mutation specifics: What carriers of ATM pathogenic variants actually face — including a 69% breast cancer risk, pancreatic and ovarian risk, and why the focus on BRCA leaves ATM carriers navigating without a map. The middle phase nobody prepares you for: The psychological and bodily experience of bilateral mastectomy with flap reconstruction between the first and second surgery — including what it does to a woman's relationship with her own reflection. Explaining hereditary cancer to children: How Krista told her daughters (ages 5, 8, and 10 at diagnosis) about her mutation, her surgery, and later her cancer — including what she had to process in herself first before she could speak from a calm place. The grief that doesn't announce itself: How choosing surgery — a choice she felt grateful for — still produced grief she felt she wasn't allowed to have, and why "I chose this" doesn't close off mourning. Cancer as identity reorganizer: How the experience shifted what Krista allows into her life, where she places her attention, and what felt insufficient about who she'd been before this began. What the oncology system still misses: How even inside treatment, secondary risks (pancreatic, ovarian) get dropped after the primary intervention, and why mutation carriers need to track their full risk profile across specialties. HIGHLIGHTS & TAKEAWAYS Three specialists told her the abnormality wasn't cancer. She pushed anyway. That instinct — the unsettled feeling she couldn't explain — was the most accurate clinical information she had. Learning to trust it required overriding the authority gradient we're all trained to defer to. The grief of choosing surgery is still grief. Knowing you're lucky, knowing you have options, knowing what you avoided — none of that neutralizes what it costs to look in the mirror at a body mid-reconstruction and not recognize yourself. Gratitude and loss occupy the same moment. What she modeled for her daughters wasn't resilience. It was legibility — making the emotional experience visible and speakable so it could move through them instead of getting stored somewhere unnamed. The shift from previvor to cancer diagnosis didn't happen at diagnosis. It had been accumulating across twelve years of watching her mother, then across the months of self-advocacy, then across a two-week window between a positive biopsy and surgery already on the calendar. The "before and after" is rarely a single moment. She found her way into the hereditary cancer community not as someone who sought support, but as someone who had always been "fine." The connection she found there changed more than her career — it changed what she understood about what she'd actually needed all along. CONTENT NOTE This episode includes detailed discussion of a parent's cancer diagnosis and death, including end-of-life care and hospice. Krista also shares her own cancer diagnosis and surgical experience, including the psychological impact of bilateral mastectomy with reconstruction. The conversation includes reference to the loss of a sister-in-law to cancer at age 38. RESOURCES MENTIONED Guest resources: Krista on Instagram: @cancer.prevention.coach — hereditary cancer education and advocacy content for the ATM and broader high-risk community Standard links: Face the Risk Together support groups: sarachampielcsw.com FORCE (Facing Our Risk of Cancer Empowered): facingourrisk.org — national organization for hereditary cancer advocacy and peer support National Society of Genetic Counselors (NSGC): nsgc.org — find a certified genetic counselor for hereditary cancer risk CONNECT If this conversation resonates, follow, rate, and share the show. Find Sara Champie on IG @sarachampielcsw and sarachampielcsw.com for free resources and access to 1:1 and group support. You already speak this language — come walk the genetic line with us. Sara Champie

_*]:min-w-0 gap-3"> Guest: Ali Hall Theme: Queer Identity, Bodily Autonomy, and the BRCA Diagnosis Nobody Saw Coming _*]:min-w-0 gap-3"> _*]:min-w-0 gap-3"> Episode Summary _*]:min-w-0 gap-3"> When Ali Hall stole a 23andMe kit from a family white elephant exchange, she wasn't looking for anything life-changing. Five years later, an email arrived while she was picking her kid up from school: her results had been updated. She had a BRCA mutation. What followed wasn't panic — and that itself is the story. Ali's response was shaped by something older than the diagnosis: a lifelong pattern of minimizing her own experience when people around her were suffering more visibly. _*]:min-w-0 gap-3"> What makes this conversation rare is the intersection Ali navigates without apology. As a queer, gender-expansive person living in Florida, going flat wasn't just a medical decision — it was a question of safety, identity, and what it finally meant to feel at home in her own body. Three weeks post-surgery, something unexpected happened: she stopped caring what other people thought. This episode sits at the crossroads of intergenerational emotional inheritance, bodily autonomy, and what it looks like when a medical intervention accidentally hands you the self-acceptance you were never quite given permission to claim. _*]:min-w-0 gap-3"> _*]:min-w-0 gap-3"> We Cover _*]:min-w-0 gap-3"> The accidental diagnosis: How Ali discovered her BRCA mutation through a forgotten 23andMe test — and what it means to receive life-altering information you never sought out Minimizing your own risk as a survival pattern: Why Ali's first response was "this isn't a big deal" — and how being surrounded by people with active cancer taught her, long before any lab result, that her experience counted less Navigating prophylactic mastectomy in a queer body: The real safety calculations, identity considerations, and bodily autonomy questions that mainstream BRCA spaces don't make room for The noise problem: How well-meaning but homogenized Facebook groups pushed Ali back toward her own body knowledge — and why returning to herself was the most important decision she made Information, timing, and emotional maturity: Why Ali believes she made the right decision at exactly the right moment — and what she thinks happens when young people receive this diagnosis before they have the scaffolding to hold it Going flat and gaining ground: What happened to Ali's confidence three weeks after surgery — and why it surprised her The gap in hereditary cancer care: Why even world-class medical systems leave patients without trauma-informed emotional support after a BRCA diagnosis _*]:min-w-0 gap-3"> _*]:min-w-0 gap-3"> Highlights & Takeaways _*]:min-w-0 gap-3"> Minimizing your own risk is a survival pattern, not a personality trait. When people around you have "real" cancer, your genetic warning can feel like it doesn't count — and that belief has roots long before the diagnosis arrives. The body knows before the mind catches up. Ali knew she would go flat before she could fully articulate why. Fighting that knowledge — researching implants she never wanted — was the cost of not yet trusting herself. Prophylactic surgery carries different stakes in a queer body. The decision wasn't just medical. It was a calculation about safety, visibility, and what kind of presence Ali could have in the world after surgery. More information isn't always better. Ali raises a question this field rarely asks: what would have happened if she'd gotten this diagnosis at 25, before she had the emotional scaffolding to hold it? Sometimes the medical intervention is the least disruptive part. The harder work was learning to stop abandoning herself in service of everyone else's comfort — a pattern the diagnosis finally cracked open. _*]:min-w-0 gap-3"> _*]:min-w-0 gap-3"> Content Note _*]:min-w-0 gap-3"> This episode discusses BRCA mutation, prophylactic mastectomy, queer identity and gender expression, bodily safety, parenting with genetic risk, and the emotional experience of unsought medical information. _*]:min-w-0 gap-3"> _*]:min-w-0 gap-3"> Resources Mentioned _*]:min-w-0 gap-3"> FORCE (Facing Our Risk of Cancer Empowered): facingourrisk.org — national organization for hereditary cancer advocacy and peer support Fierce Flat Community: peer support for those who choose to go flat after mastectomy National Society of Genetic Counselors (NSGC): nsgc.org — find a certified genetic counselor for hereditary cancer risk Face the Risk Together: Sara Champie's support groups for people in California: sarachampielcsw.com _*]:min-w-0 gap-3"> _*]:min-w-0 gap-3"> Connect _*]:min-w-0 gap-3"> If this conversation resonates, follow, rate, and share the show. Find Sara Champie on IG @FaceTheRiskTogether and sarachampielcsw.com for free resources and access to 1:1 and group support. _*]:min-w-0 gap-3"> You already speak this language — come walk the genetic line with us. _*]:min-w-0 gap-3">   _*]:min-w-0 gap-3">

Episode Summary Jennifer never knew her biological father growing up — and when she finally let him back into her life at 25, what he brought with him was a medical history that would change everything. Phone call after phone call, a new cancer. Eight-plus organ cancers. Over a hundred skin cancers. Years before anyone thought to offer him a genetic test. When Lynch Syndrome MSH2 was finally identified, Jennifer wasn't ready — she was a single mother, financially stretched, emotionally guarded, and carrying decades of unresolved grief toward a man who had never shown up for her. She put it on the shelf. And then he died. And she couldn't anymore. In this episode, Jennifer and Sara explore what it means to inherit a diagnosis from the parent who was already a wound — how the moment of receiving a positive result is a nervous system event as much as a medical one, and how rage, guilt, fear for your children, and grief for a father you never fully had can arrive all at once in a single Zoom call. Jennifer also shares how she transformed that convergence into Lynch Syndrome Awareness, an organization fighting to close the staggering gap between how common this mutation is — 1 in 279 — and how rarely doctors recognize it. We Cover Growing up without her biological father and reconnecting at 25 — only to find a devastating medical history on the other side Watching her father face eight-plus organ cancers over years, and the slow accumulation of fear that came with every phone call The financial and emotional barriers that delayed her own testing — and why that delay deserves compassion, not judgment Receiving her Lynch Syndrome MSH2 positive results by Zoom, alone, days before a family vacation — and what Time Collapse looks like in real time The layered grief of inheriting a mutation from an absent parent: anger, guilt, and terror for her adult children arriving simultaneously The Boland inversion — a rare MSH2 variant that has been missed by standard testing — and why naming it to your genetic counselor matters Why Lynch Syndrome, the most common hereditary cancer mutation, remains almost entirely unknown to the general practitioners most likely to encounter it The red flags that physicians can act on — cancer under 50, multiple primary cancers, family pattern — and the simple chart Jennifer's organization provides to help patients walk in prepared Building Lynch Syndrome Awareness from personal crisis: what it looks like to turn inherited doom into community mission Highlights & Takeaways "How dare you. Not a hug, not a birthday card — but this. You give this to me." Sometimes the mutation arrives from the parent who was already a loss. The grief is never only about cancer. Avoidance after a family member's diagnosis is not denial — it is often the nervous system doing exactly what it needs to do when the load exceeds what the present moment can hold. The moment of receiving a positive result is not just emotional. It is neurological. Jennifer's account of going numb, losing comprehension, and needing to end the call before she broke down is a clinical picture of what happens when past, present, and future collapse into one. Lynch Syndrome affects 1 in 279 people — more than BRCA — and most doctors have never heard of it. Prevalence without visibility is its own kind of harm. Self-advocacy is not a personality trait. It is a survival skill that patients can be taught, supported in, and given tools to practice. Content Note This episode includes discussion of paternal absence and estrangement, parental death, prolonged exposure to a family member's cancer illness, genetic testing and positive results, fear around children inheriting a mutation, financial barriers to genetic testing, and the emotional processing of hereditary cancer risk. Resources Mentioned Lynch Syndrome Awareness — lynchsyndromeawareness.com  FORCE: Facing Our Risk of Cancer Empowered — facingourrisk.org — peer navigator program, message boards, and expert-reviewed resources for hereditary cancer Genetic counseling services through comprehensive cancer centers Trauma-informed therapy for individuals navigating hereditary cancer risk and intergenerational loss Connect If this episode resonated, please follow, rate, and share Walking the Genetic Line. Find Sara Champie on Instagram and TikTok @SaraChampieLCSW for trauma-informed resources, therapy offerings, and group support. You are not alone in this. Let's walk this line, together.

Host: Sara Champie, LCSW Theme: Navigating medical vulnerability, global instability, and nervous system overwhelm during hereditary cancer risk and treatment. Episode summary What happens when your body is healing, your life is medically uncertain, and the world around you feels like it's unraveling? In this solo episode, therapist Sara Champie explores a reality many people navigating hereditary cancer risk quietly experience: the nervous system strain of managing personal medical vulnerability while absorbing the constant noise of global crisis. When surgery, treatment, or high-stakes medical decisions coincide with political instability, violence in the news, and collective trauma, the body doesn't separate those experiences — it metabolizes them all at once. Sara offers a trauma-informed perspective on why everything can feel so intense during these seasons, and why that intensity is not a sign of weakness but evidence of a nervous system doing exactly what it was designed to do. This episode is an invitation to reclaim boundaries, reduce overwhelm, and protect the small sphere of influence that supports healing. We cover • The nervous system impact of healing from surgery or treatment during times of global instability • Why the body does not separate personal and collective threats • The layered stress of medical decisions, family dynamics, and cultural chaos • How trauma histories can amplify reactions during medical vulnerability • Why overwhelm, exhaustion, or emotional volatility during healing is physiologically normal • The concept of titrating exposure to news, social media, and external stress • Protecting your energy and nervous system while your body repairs itself Highlights & takeaways "Your nervous system is metabolizing everything it's exposed to." "When your body is physically vulnerable, everything in the world lands harder." "Intensity does not mean you're falling apart. Your system is doing its job." "Our bodies did not evolve for 24-hour global awareness layered on top of personal medical vulnerability." "Caring about the world does not require flooding yourself." "Sometimes the most responsible thing we can do is protect the small sphere we actually have influence over." Content note This episode references medical trauma, surgery recovery, violence in the news, political instability, sexual abuse systems, trauma history, and the emotional strain of living with hereditary cancer risk. Resources mentioned Walking the Genetic Line Podcast Conversations exploring the emotional, relational, and psychological realities of hereditary cancer risk. Sara Champie, LCSW Trauma-informed psychotherapist specializing in hereditary cancer risk, medical decision-making, and intergenerational healing. Website: https://sarachampielcsw.com Instagram: @sarachampielcsw Connect If this episode resonated, please consider following the show, leaving a review, or sharing it with someone navigating hereditary cancer risk or medical uncertainty. You can connect with Sara Champie and learn more about her work at @sarachampielcsw. Let's walk this line, together. Additional support If you are navigating genetic risk, cancer treatment, or complex medical decisions, trauma-informed therapy and support communities can help process the emotional layers that often accompany these experiences. Support may include: • Individual therapy • Support groups for individuals navigating genetic risk or cancer • Patient advocacy organizations and peer support networks You deserve care that addresses both the medical and emotional realities of this journey.

Guest: Katie McMurray Theme: BRCA1, sisterhood, developmental trauma, and choosing preventative surgery in young adulthood Episode summary When Katie was 17, she lost her mother to breast cancer. Years later, genetic testing confirmed what she had long suspected: she carries a BRCA1 mutation. In this episode, Katie and Sara Champie explore what happens when grief resurfaces through genetic testing — how identity shifts, how fear and agency intertwine, and how the loss of a parent shapes medical decision-making. At 25, during the height of COVID, Katie chose preventative mastectomy surgery. As the oldest of three sisters who all inherited the mutation, she navigated her own fear while becoming a model of courage and clarity for her family. This conversation holds the tender, complex emotional terrain that genetic testing opens — far beyond the lab result. We cover Losing her mother to breast cancer as a teenager Receiving BRCA1 results in person with a genetic counselor — and why that mattered The emotional shock of genetic testing and how it reactivates grief The identity shift between "pre-testing" and "post-testing" self Why surgery felt like a non-negotiable choice The psychological cost of ongoing surveillance vs. preventative surgery Being the oldest sister after parental loss All three sisters inheriting the mutation The role of sisterhood and care during recovery COVID, surgery at 25, and finding readiness The limitations of cancer-focused support groups for previvors Why trauma-informed and therapy referrals should accompany genetic testing Highlights & takeaways "There's a pre-genetic testing you and a post-genetic testing you. You can't go back." Genetic testing is never "just a lab test" — it reverberates through identity, family, and history. Losing a parent to cancer transforms how the body receives risk information. Preventative surgery can be an act of agency — not fear. Support matters: an in-person genetic counselor changed the trajectory of Katie's experience. Sisterhood became both a source of care and a mirror of generational courage. Content note This episode includes discussion of parental death, adolescent grief, preventative mastectomy, genetic cancer risk, identity disruption, abusive relationships, and emotional processing around hereditary cancer. Resources mentioned The Breasties – community support for young women impacted by breast and ovarian cancer Genetic counseling services through comprehensive breast centers Trauma-informed therapy for individuals navigating hereditary cancer risk Connect If this episode resonated, please follow, rate, and share Walking the Genetic Line. Find Sara Champie on Instagram and TikTok @SaraChampieLCSW for trauma-informed resources, therapy offerings, and group support. You are not alone in this. Let's walk this line, together.

Guest: Ingrid Nishimoto, LCSW Theme: Inherited Narratives—Moving Beyond the Parent's Story to Claim Your Own Episode Summary When Ingrid Nishimoto was diagnosed with Peutz-Jeghers Syndrome at age 17, she wasn't just handed a medical management plan; she was handed a mirror of her father's life and early death. In this profound conversation with Sara Champie, LCSW, Ingrid explores the "Time Collapse" that occurs when a genetic diagnosis makes the past and future converge in the present. As a fellow psychotherapist, Ingrid deconstructs the emotional burden of living past the age a parent died, the adaptive nature of hyper-vigilance, and the radical act of choosing her own path in a medical system that often prioritizes physical data over the human soul. We Cover The Origin Story: Discovering Peutz-Jeghers Syndrome at 17 after years of "nameless" abdominal pain and the visible markers of pigmentation—and the immediate shift from high-school senior to a high-risk patient. Intergenerational Inheritance: Navigating the grief and anger of "replacing" a parent's narrative, specifically the complexity of living past the age of 37—the year Ingrid's father passed away from the same condition. The "Responsibility Reflex" in Healthcare: How high-achievers often try to "figure it all out" or over-function as a survival strategy when faced with medical uncertainty. Medical vs. Emotional Care: The gap in the Western medical system where physical scans are prioritized, but the mental health impact of "waiting for results" is often left unaddressed. Relationship to Risk: A deep dive into "Risk-Neutral Spaces"—learning that there is no right or wrong way to feel about screening, and how Ingrid moved from rigid self-protection to a more expansive relationship with her body. The Burden of Choice: Deciding between the stability of an employer-based health system and the agency of private practice while carrying a "pre-existing" genetic reality. Highlights & Takeaways "My Story is Unique": A genetic mutation may be inherited, but the narrative you build around it is yours to claim. You are not doomed to repeat the past. The Body as Information: Physical symptoms, like hyper-vigilance or "racing heart" during scans, are not flaws; they are the nervous system's attempt to keep you safe. Permission for Ambivalence: It is possible to be grateful for medical technology while simultaneously feeling anger or protest toward the burden it places on your life. Slowing Down the Reaction: Meaningful decision-making requires emotional safety and the permission to "not know" the future while staying grounded in the present. Content Note This episode discusses hereditary cancer syndromes, the loss of a parent, medical trauma, surgical anxiety, and the emotional complexities of long-term monitoring. Resources Mentioned Ingrid Nishimoto, LCSW: Connect with Ingrid and her private practice work at ingridnishimototherapy.com. The Responsibility Reflex Quiz: Take the quiz to discover your survival strategies under medical stress at sarachampielcsw.com. Face the Risk Together: Sara Champie's 10-week psychotherapy group for women and gender-diverse people in California. Peutz-Jeghers Syndrome (PJS) Information: NORD (National Organization for Rare Disorders) . Connect If this conversation resonates, please follow, rate, and share. Help us reach the high-achieving "over-functioners" who need to know they don't have to carry the risk alone. Instagram: @FaceTheRiskTogether Web: www.sarachampielcsw.com

Guest: Sara Kavanaugh Theme: Living as a Previvor—Agency, Advocacy, and Reframing Anxiety After Genetic Testing Episode summary When Sara Kavanaugh learned she carried mutations in her MSH6 (Lynch syndrome) and Check2 genes, she moved from decades of health anxiety—and ambiguous uncertainty—to a new sense of empowerment and structure. In this dialogue with psychotherapist and fellow traveler Sara Champie, Sara shares how learning her genetic status fundamentally changed her identity, led her to fierce self-advocacy, and inspired her to create the Positive Gene Podcast—a resource and anchor for others navigating hereditary cancer risk. We cover The personal journey: From ingrained health anxiety to seeing genetic knowledge as a "gift" that brings clarity, agency, and actionable plans. What it means to be a "previvor": Lived reality, screening protocols, and the invisible challenges of those at elevated risk—but without a cancer diagnosis. Parenting at midlife: Navigating genetic risk with two young children and the hopes/fears for future generations. Building self-advocacy in the medical system: How to develop real relationships with providers, advocate when facing dismissive care, and bridge gaps in awareness (including doctors who don't know Lynch syndrome!). The role of intuition and anxiety: Reframing lifelong anxiety toward health into self-protection and intuition, rather than pathology. Creating the Positive Gene Podcast: Choosing curiosity, connection, and education as vehicles for healing and collective empowerment. Identity and healing: Drawing on moments from childhood (challenging authority, resisting labels like "flighty") to claim agency and redefine self-worth after a life-changing diagnosis. Highlights & takeaways "Knowledge is power." For many, genetic test results shift fear into structure, agency, and meaningful decision-making. Previvors often live unseen—managing complicated protocols, moving between providers, advocating for themselves, and carrying risk that isn't always visible or understood. The relationship with your healthcare provider matters. Connection and trust can transform screenings and mitigate isolation. Healing is possible even in uncertainty: You can use your experience for growth, connection, and to model integrity and resilience for loved ones. Advocacy starts early—standing up to being underestimated (even as a child) can inform your agency as an adult facing difficult realities. Content note This episode discusses cancer risk, genetic mutations, parenting with uncertainty, health anxiety, identity shifts, and emotional processing after major life events. Resources mentioned Positive Gene Podcast: Listen and connect at positivegenepodcast.com or via Sara Kavanough's LinkedIn or Instagram @positivegenepodcast FORCE (Facing Our Risk of Cancer Empowered): https://www.facingourrisk.org — leading national organization for hereditary cancer advocacy/support groups National Society of Genetic Counselors (NSGC): https://www.nsgc.org/ — find certified genetic counselors for hereditary cancer risk Lynch Syndrome International: https://lynchcancers.org — resources for people with Lynch syndrome Check2 gene mutation information (NIH Genetics Home Reference): https://medlineplus.gov/genetics/gene/chek2/ Face the Risk Together: Host Sara's Champie's support groups for people in Calfornia: www.sarachampielcsw.com  Connect If this conversation resonates, don't forget to follow, rate, and share the show. Find Sara Champie on IG @FaceTheRiskTogether and www.sarachampielcsw.com to get free resources + access to 1:1 and group support. You already speak this language—come walk the genetic line with us.

Guest: Sara Kourouma Theme: Loss, agency, and community—the emotional journey of living with BRCA2 Episode summary When Sara Kourouma discovered she carried the BRCA2 mutation as a young adult—after losing her mother to breast cancer at age 10—she was thrust into a landscape defined by uncertainty, risk, and the weight of generational loss. In this episode, Sara Champie sits down with Sara Kourouma, a clinical social worker serving New York and Texas, to explore how privilege, access, grief, and human connection have shaped her journey through surveillance, multiple prophylactic surgeries, and finding a sacred role in supporting others living with hereditary cancer risk. We cover Childhood loss and the evolution of understanding risk: Growing up after her mother's passing, and how major developmental milestones brought a fresh wave of grief and questioning. Early genetic testing and access barriers: Navigating the impact of genetic knowledge on health and life insurance, and the privilege of paying out-of-pocket to keep results private. Decision-making in the shadow of family history: How approaching her mother's age at diagnosis shaped Sara Kourouma's relationship to her own risk and medical choices. Choosing prophylactic surgeries and finding agency: Why Sara Kourouma ultimately chose mastectomy, hysterectomy, and DIEP flap (autologous) reconstruction—and the emotional labor of claiming her needs as a parent and partner. The gaps in psychological care: The critical difference between medical expertise and psychosocial support, and the healing power of group connection and lived experience. Building community, in person and virtually: Why message boards aren't enough, and the importance of human-to-human support for navigating body changes, hormones, and life transitions. Living with ongoing risk and uncertainty: The ever-changing landscape of surveillance, learning to listen to her body, and the meaning of living fully, today. Highlights & takeaways "To be alive is risk. We happen to know our risk, and how can I use that information to empower myself in ways my mom never could?" Privilege and access shape every aspect of care and decision-making—financial, relational, and emotional. There's profound healing in being witnessed by those who truly understand your experience—community is as vital as medical care. Living fully with risk doesn't mean denying uncertainty, but learning to stay present, ask for help, and make meaning together. "My mother's story lives on as a value in my life: live fully, make it meaningful." Content note This episode includes discussion of childhood bereavement, parental death, surgical details, genetic testing, body image, and navigating privilege and access in medical care. Resources mentioned DIEP flap (autologous) breast reconstruction BRCA1 and BRCA2 genetic mutations – information and support from FORCE Surgical menopause and hormone management Dr. Potter, Austin—reconstruction surgeon referenced in the episode Dr. Robson, BRCA research at Memorial Sloan Kettering BRCA mutation carriers: Reddit and Facebook peer-to-peer groups | BRCA Sisterhood Facebook Group Dr. Men, BRCA2 carrier & social educator on Instagram (discussed in this episode) Connect If this conversation resonated, please follow, rate, and share. Find Sara Champie on IG/TikTok @FaceTheRiskTogether and get free tools + therapy/support group offerings via the link in bio. You're not alone—we can walk this line together.

Episode Summary When Beth Martinetti—Pilates instructor, mother of three, and lifelong student of her own body—discovered multiple genetic mutations at 45, it was the latest chapter in a lifetime shaped by both visible and invisible challenges. Beth shares her journey from adolescent injury and Ehlers-Danlos diagnosis, through complicated pregnancies, to a midlife cascade: mysterious symptoms, pivotal encounters with validating doctors, and ultimately, the discovery that she carries BRCA1, CHEK2, and a variant in BARD1. Still in the thick of surgical recovery, Beth invites us into her real-time experience of risk, loss, uncertainty, and the incremental reclaiming of agency and meaning. We Cover Medical and developmental trauma: How early diagnoses and pain shaped Beth's body awareness, resilience, and vigilance Pregnancy, miscarriage, and marginalization: What it meant to be repeatedly dismissed or minimized, and the life-changing impact of a single attuned provider Living with Ehlers-Danlos syndrome and the way hypermobility, hormonal issues, and reproductive challenges intersected over decades Self-advocacy in the medical system: Learning to read her own imaging, question dismissive providers, and push for genetic testing Receiving her results: The shock and surreal rupture when Beth learned she carried BRCA1 and CHEK2, and the weight of sharing that with her family—while standing in the woods at Yosemite Supporting adolescent and younger children through the ripple effects of maternal illness, body changes, and genetic risk The embodied experience of surgery—from hysterectomy to gallbladder removal, oophorectomy, and mastectomy—and the real-time challenges of surgical complications, infection, and body image shifts Grief, agency, and legacy: Parenting through vulnerability, modeling emotional honesty, and holding fear, gratitude, and fatigue at once The role of partners and community: How a supportive spouse, trusted friends, and peer connections make survival—and joy—possible Highlights & Takeaways Finding just one attuned, validating provider (sometimes for a single appointment) can be a turning point—emotionally and medically. Self-advocacy is a moving target: sometimes it's reading your own reports, sometimes it's knowing when a care team isn't right, and sometimes it's asking for help again and again. Living through "the middle" means holding both gratitude and disappointment, joy and exhaustion; honoring the whole experience matters. Parenting with genetic risk is about more than "staying positive"—it's also about being honest, modeling emotional self-care, and letting children see resilience as well as struggle. Surgical recovery is seldom linear, and body image is an ongoing conversation—one best held with authenticity and support. Content Note This episode includes discussion of miscarriage and pregnancy loss, surgical details, body image, medical trauma, and the emotional experience of hereditary cancer risk. Resources Mentioned Genetic Testing and Support FORCE (Facing Our Risk of Cancer Empowered): Facing Our Risk Bright Pink (educational/support community for hereditary cancer): Bright Pink Penn Medicine Basser Center for BRCA: Basser Center Ehlers-Danlos Syndromes The Ehlers-Danlos Society Pelvic Floor Health & Menopause Support The Menopause Society (formerly NAMS) Body Image after Surgery The Breasties (support community for young women affected by breast and gynecologic cancers) Podcast host: Sara Champie's therapy/wellness resources and group offerings Connect If this episode resonated with you, please follow, rate, and share. Find Sara on IG/TikTok @FaceTheRiskTogether and get free tools + support group info via the link in bio. You're not alone—this is a line we walk together. Want to tell your story, share feedback, or learn about future groups? DM or email Sara via IG/TikTok.