Jaclyn Carnevale: From Cancer Diagnosis to Embryos Without the Mutation, A BRIP1 Previvor’s IVF Journey

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.

Sara Champie