Walking the Genetic Line

Episode summary When Marisa Kimmel chose aesthetic flat closure after learning she carried a BRCA1 mutation, she wasn't thinking about whether she would still feel like a woman. She was thinking about lowering her risk so she could stay alive for her six-month-old son. The question of femininity came later, handed to her by strangers on social media. Marisa had already done this work once. She was diagnosed with alopecia at nine, and years of trying to hold on to her hair took such a toll on her mental health that she came close to not wanting to be alive. Letting go of her hair taught her that she is a woman because she says she is. Today she feels more feminine and grounded in her womanhood than she ever has, without the two features society treats as proof. In this second conversation, Sara and Marisa go deeper into what that freedom costs and what it makes possible. Marisa talks about choosing not to delete hostile comments, because people considering the same choices deserve to know that choosing yourself isn't all good. She describes raising a son who answers questions about his long hair with total certainty, and her plan to let him decide if and when to learn his own genetic risk. She shares the moment her father, also a BRCA carrier, asked her to put a shirt on, and what came out when she asked why: guilt. Sara reflects on the parallel between Marisa's longing to protect her son and her father's grief over what he passed down, and on why this podcast exists to complicate the tidy story of risk, surgery, and safety. We cover Being diagnosed with a BRCA1 mutation at 26, six months postpartum and still breastfeeding The options Marisa was given, from surveillance to mastectomy with reconstruction to going flat, and why she chose aesthetic flat closure How the idea that going flat would make her less of a woman came from other people, not from her Living with alopecia since age nine, the toll of trying to keep her hair, and how letting go reshaped her identity Hair, breasts, and the cultural markers used to define womanhood Gender, bodily autonomy, and why a body like hers provokes such strong reactions Online harassment, including messages saying she shouldn't be a mother, and why she doesn't delete comments Why choosing yourself isn't all good, and learning not to need anyone else's approval Breast cancer on her father's side of the family, often diagnosed in women's late thirties and forties Watching the women before her make sacrifices, then facing her own choice as a new mother Raising a son who knows he doesn't owe anyone an explanation, and rehearsing hard conversations with him in the car BRCA in men, and why Marisa will leave the choice about genetic testing to her son Her father's guilt, his request that she cover her scars, and why his feelings are not hers to carry The parallel between a parent's longing to protect a child and the grief of having passed something down Choosing to have her tubes removed and have only one child, and why decisions about her body remain hers Complicating the story of hereditary cancer beyond risk, surgery, and "safe forever" Highlights & takeaways "I'm a woman because I say that I am." After a lifetime with alopecia and a choice to go flat, Marisa defines her womanhood from the inside out. "I actually didn't even have that thought in my head once before. It was given to me by other people." Fears about femininity after mastectomy can be absorbed from others rather than coming from within. "It's not all good, choosing yourself." Claiming your body can bring judgment and conflict. Marisa leaves hostile comments up so others can see the full picture before making similar choices. When her father asked her to cover her scars, the reason turned out to be guilt. A parent's grief about passing down a mutation is real, and it doesn't have to become the child's to carry. Sara names a parallel process: Marisa's longing to protect her son echoes her father's wish that he could have protected her. "The more that I talk, say the hard things out loud, the softer they feel." Speaking about what's hard makes it easier to carry. Content note This episode includes discussion of a BRCA1 diagnosis, prophylactic mastectomy and going flat, hair loss and alopecia, body image and identity, a past period of not wanting to be alive, online harassment including messages encouraging self-harm, breast cancer across generations, parental guilt, removal of the fallopian tubes, and choices about future pregnancy. Resources mentioned Marisa Kimmel on Instagram: Follow Marisa for her writing and posts on going flat, alopecia, and living with hereditary cancer risk Marisa's first Walking the Genetic Line episode: Listen to the earlier conversation for her full story Connect If this conversation spoke to you, follow Walking the Genetic Line, rate and review the show, and share this episode with someone who is weighing their own choices about their body. Connect with Sara Champie, LCSW at sarachampielcsw.com and on Instagram @SaraChampieLCSW. Let's walk this line, together. Additional support Therapy with Sara Champie, LCSW: Psychotherapy for people navigating hereditary cancer risk, preventive surgery, body and identity changes, and family dynamics. sarachampielcsw.com National Alopecia Areata Foundation: Support, education, and community for people living with alopecia areata. naaf.org 988 Suicide & Crisis Lifeline: If you are having thoughts of not wanting to be alive, call or text 988 in the U.S. for immediate support  

Episode summary Many people walk into a genetic counseling appointment expecting a blood draw. Rachel Collier wants them to know there is far more available: education, informed consent, and real space to talk through what this information could mean for their lives. Because genetic results are information you can't unlearn, she treats testing as a true choice, including the choice not to test. Rachel describes how hereditary cancer risk tends to become real in two phases, first in the initial appointment, when memories of relatives' cancer treatment can resurface, and again when results arrive. She talks about staying quiet through the shock, refusing to label a result as good or bad news before she knows what it means to the person in front of her, and why some families feel relief at a positive result after years of unanswered questions. From there, Sara and Rachel follow genetic information as it moves through families. They explore the weight placed on the first person to test, relatives who learn their carrier status without ever wanting to know, and the hard conversation with parents who want their young children tested for adult-onset cancer risk. Sara brings a trauma-informed lens to the people who decline testing, describing that choice as protective rather than wrong, and naming a truth that rarely gets said: agency can carry a burden, especially for people whose survival strategy is self-criticism. Sara also shares her own experience of an OB-GYN whose repeated "shoulds" led her to leave that provider. The conversation closes on a question at the center of Sara's work: can something be hard without meaning we did something wrong? We cover Common misconceptions about genetic counseling, including that it's only a blood draw, that the counselor is a physician, and that a referral means you have to test Pre-test counseling, informed consent, and why genetic testing is always optional Why some people reschedule and cancel repeatedly before they ever make it in the door How short medical visits train patients to rush their questions, and what changes when there is time to talk The two moments hereditary cancer risk becomes real: the first appointment and the results Shock, silence, and the first questions people ask, which are often about their children Why a result feels different when the expected chance of a mutation was 50% versus 1% Non-directive counseling and why a positive result isn't automatically "bad news" The first person in a family to test, often called the proband, becoming the messenger to relatives Obligate carriers and the tension between one relative's right to know and another's right not to Why people decline testing, the belief that "if I don't test, it isn't real," and declining as a protective decision The window of tolerance and how already stressful circumstances shape what a person can take in Agency as a burden, especially for people whose survival strategy is self-criticism or self-punishment How Rachel answers "What would you do?" by describing scenarios people can recognize themselves in Sara's experience with an OB-GYN whose repeated "shoulds" pushed her away Why testing young children for adult-onset cancer genes such as BRCA is generally not recommended, and the exceptions How a parent's knowledge of a child's result can subtly shape how that child is treated Returning to genetic counseling years after testing, when you're ready for more information The peaks of intensity across a carrier's life, and the pull toward black-and-white thinking and self-blame Grief after preventive surgery, including not being able to breastfeed after a prophylactic double mastectomy Highlights & takeaways "We don't want people to have testing ordered and they learn information that they can't unlearn." Pre-test counseling exists so people know what they're choosing before they choose it. A positive result isn't automatically bad news. For a family that has searched for years to understand multiple cancers at young ages, an answer can bring relief. "Agency in and of itself is not always a conversation of empowerment." For people who manage hard emotions through self-criticism, more choices can mean more chances to feel they got it wrong. Declining genetic testing can be a protective decision, not a wrong one. As Sara puts it, "Only you get to know what is best for you to interact with and when." "We're making the best decision that we can using the resources and information that's available to us today." Future you has to honor the choice present you made with what you knew. "Can this just be hard?" When something feels hard, many of us immediately search for what we did wrong. Taking the moral label off difficulty creates room for grief without self-attack. Content note This episode includes discussion of hereditary cancer risk, cancer diagnoses in the family, traumatic memories of relatives' cancer treatment, receiving genetic test results, family conflict over disclosing carrier status, genetic testing of children and teens, IVF and preimplantation genetic diagnosis, prophylactic double mastectomy, grief over not being able to breastfeed, and self-blame. Resources mentioned Hoag Memorial Hospital Presbyterian: Private hospital in Newport Beach, California, where Rachel provides genetic counseling for adult patients Genetic counseling follow-up: Rachel and Sara note you can return to a genetic counselor years after testing when you're ready for more information or to think through preventive options Connect If this conversation helped you think differently about genetic testing, follow Walking the Genetic Line, rate and review the show, and share this episode with someone who has been told they should consider testing and isn't sure yet. Connect with Sara Champie, LCSW at sarachampielcsw.com and on Instagram @SaraChampieLCSW. Let's walk this line, together. Additional support Therapy with Sara Champie, LCSW: Psychotherapy for people navigating hereditary cancer risk, cancer diagnosis, preventive surgery, and medical decision-making. sarachampielcsw.com Find a genetic counselor: The National Society of Genetic Counselors directory at findageneticcounselor.nsgc.org 988 Suicide & Crisis Lifeline: Call or text 988 in the U.S. for immediate support  

Episode summary Randi Eichenbaum was 19 when her mother died of ovarian cancer. Somewhere in those years she absorbed a quiet belief: this is going to happen to me too. Years later, a new OB-GYN recommended genetic testing based on her family history. The BRCA2 result came by phone from a third-party lab while she was at work, followed by an emailed PDF that no one walked her through. She put it in a drawer, literally and figuratively, and went back to work. What followed was a series of turning points. She became a mother and experienced acute postpartum anxiety. She had a prophylactic hysterectomy and oophorectomy three to four months after an emergency C-section. Then, while her preventive mastectomy was delayed, a routine MRI found stage 1 breast cancer. At almost every turn, someone in Randi's personal life opened a door. Her mother's best friend, a longtime UCSF nurse, urged her to see a genetic counselor. Her sister-in-law, a breast cancer survivor, insisted she see Dr. Anne Peled. Randi and Sara explore the tension Randi names directly: feeling deeply lucky, and also a little bit pissed that this kind of care is the exception rather than the norm. That tension became MOTA, a digital companion for people with hereditary cancer risk, starting with BRCA1 and BRCA2 carriers. Together they talk about why a provider's experience and steadiness matter emotionally as well as medically, why surgical menopause carries so much fear, and why there is no real "other side" of carrying a genetic mutation. We cover Growing up with a parent's ovarian cancer diagnosis and the internalized belief that "this is going to happen to me" Dissociating and building a career as a way of moving forward after loss Receiving a BRCA2 result by phone from a third-party lab with no one to walk her through it Emotional compartmentalization: putting a result "in a drawer" until life makes it impossible to ignore How approaching 40, the age her mother was diagnosed, and becoming a mother brought the urgency back Postpartum anxiety, grief for her mother, and choosing a hysterectomy and oophorectomy months after giving birth The relief of partnering with a genetic counselor and having an actual plan A stage 1 breast cancer diagnosis found on a routine MRI while preventive surgery was delayed The surgeon whose first words were "I'm sorry this is happening to you, but it's going to be okay" How access to excellent care often travels through informal networks, luck, and privilege Why a provider's familiarity with hereditary cancer risk affects how safe a patient feels, and which options get pushed Fear and misinformation around HRT and surgical menopause How MOTA works: a personalized roadmap based on NCCN guidelines, planning tools, a directory of providers experienced in hereditary cancer care, reminders, and mental health referrals The wounded healer: turning one of the hardest chapters of life into something for the community Why carrying a genetic mutation is lifelong, and what it means to trade one mental load for another Highlights & takeaways "I'm sorry this is happening to you, but it's going to be okay." Randi recalls the first words her breast surgeon said to her, and the moment that became the foundation of MOTA. "There is this tension of feeling very lucky, but also a little bit pissed." Gratitude for good care and anger that it isn't the norm can live side by side. Getting a result is not the same as being supported to understand it. Randi had a phone call and a PDF. What she needed was a person to help her build a plan. A provider's comfort with hereditary cancer risk shapes the patient's experience. When carriers are an outlier on a caseload, fear can enter the room and push people toward the most cautious options without room for the rest of their lives. "We never want to explain ourselves." Working with a doctor or therapist who doesn't understand this position can feel isolating, even after years of therapy. "I've traded in one mental load for another." Finishing a surgery doesn't mean you are done. Carrying hereditary risk is a lifelong experience with new chapters. Content note This episode includes discussion of a parent's death from ovarian cancer during adolescence, a breast cancer diagnosis, postpartum anxiety, an emergency C-section, prophylactic hysterectomy and oophorectomy in the postpartum period, surgical menopause, fear of dying, and gaps in medical care. Resources mentioned MOTA: A free digital companion for people with hereditary cancer risk, starting with women who carry a BRCA1 or BRCA2 mutation. Offers a personalized roadmap based on NCCN guidelines, planning tools, a provider directory, and mental health referrals. mota.care | Instagram @mota.care Randi Eichenbaum: Share a provider you recommend or feedback on what you wish you'd had: [email protected] Dr. Anne Peled: Breast surgeon in San Francisco, mentioned by Randi and by a previous Walking the Genetic Line guest, Violet Page Rachel Frankenthal, PA: Menopause specialist at UCLA Health and member of MOTA's advisory team UCSF genetic counseling: Where Randi met with a genetic counselor to build her plan NCCN Guidelines: The clinical guidelines MOTA's roadmaps are based on The Breasties: Online community and app for people affected by breast and reproductive cancers Connect If this conversation resonated, follow Walking the Genetic Line, rate and review the show, and share this episode with someone who is holding a result they haven't known what to do with. Connect with Sara Champie, LCSW at sarachampielcsw.com and on Instagram @SaraChampieLCSW. Let's walk this line, together.   Sara Champie

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