This episode was originally published in February 2019. On June 24, 2024, ⁠Roe v. Wade was overturned⁠. A few related links have been updated. Erika and Garin were 30 weeks into a complicated pregnancy when they learned that their pregnancy was not viable. Erika was denied an abortion due to New York’s 24 week cut-off so the couple travelled to Colorado to terminate her pregnancy. Their experience with New York’s abortion law, and the realization about how others were affected by it, led them to share their story publicly and advocate for reform. They founded the RHAvote campaign, the grassroots home for the Reproductive Health Act (RHA), a bill that decriminalized abortion in New York and brought the state’s regulation of abortion in line with Roe vs Wade. They worked alongside a statewide coalition, and in January 2019, New York finally passed the RHA after being stalled for almost a decade. After seeing the power of patient narratives first hand, they began organizing later abortion patients across the country ⁠⁠(PatientForward.org⁠⁠). They are also parents to a 2½-year-old-daughter, Pepper. Have thoughts or a related story you’d like to share? ⁠⁠Leave us a short voice message here!⁠⁠ We may use your message on a future show. Related Links and Resources ⁠⁠PatientForward⁠⁠ ⁠⁠RHAvote.com⁠⁠ ⁠⁠Erika & Garin on Twitter: @RHAVote⁠⁠ Tolentino, Jia. “⁠⁠How Abortion Law in New York Will Change, and How It Won’t.⁠⁠” The New Yorker. January 19, 2019. ⁠⁠The New York Times Editorial Board: A Woman’s Right (Series). ⁠⁠The New York Times. December 28, 2018. Additional links for 2024 Tolentino, Jia. “⁠⁠⁠We're Not Going Back to the Time Before Roe. We're Going Somewhere Worse⁠.⁠⁠” The New Yorker. June 24, 2022. Hercher, Laura. "⁠Genetic Counselors Scramble Post-Roe to Provide Routine Pregnancy Services without Being Accused of a Crime⁠." Scientific American. August 23, 2022. Do you have a story to share related to abortion and genetics? Send. an email to ⁠[email protected]⁠ ⁠Check out other Patient Stories podcast episodes.⁠ Read other Patient Stories on the⁠ Grey Genetics Patient Stories Page⁠. Interested in digging deeper into the professional issues raised in the podcast? Consider joining ⁠the Patient Stories Club⁠! Do you want to support Patient Stories? You can ⁠make a donation online!⁠ Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. ⁠Book an appointment⁠ with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Looking for a place to collect your family history and share with relatives? Check out ⁠the FamGenix app⁠. Grey Genetics is no longer active on social media. To receive occasional email updates, ⁠sign up for our mailing list⁠.  --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message

Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast, Once Upon a Gene. Host Effie Parks previously shared her story on Patient Stories: "New in the Family: Ford and CTNNB1." Effie then went on to start her own podcast.  Once Upon a Gene is a podcast that explores the world of raising children with disabilities and rare genetic disorders. Effie shares her own personal story of raising a child with CTNNB1 syndrome, while trying to find the non-existent rule book of bringing up such a special kid. This podcast features interviews with fellow parents, therapists, doctors and anyone else who wants to share their story. Effie's interviews with parents are uplifting and help to build community and connection among families navigating unexpected challenges and also finding unexpected joys.  In this episode, "A Little Love," Effie interviews her friend Mckenzie Vander Hoek about her daughter Everly, who has a diagnosis of achondroplasia, the most common form of skeletal dysplasia (more commonly known as dwarfism).  Links and Resources Mentioned  This Changes Nothing Everly’s Story - Dear friends and family letter Little People of America Association Evie + Lolo on Instagram - @evieandlolo It was difficult to choose just one episode to share from Once Upon a Gene! You can find Once Upon a Gene on Twitter, Instagram, Facebook and on Apple Podcasts, Spotify, Stitcher, and Overcast. If you remember Effie's interview about her son Ford and want to hear more of Effie's story, listen to Effie's interview with her husband Casey: "The Dadurday Chronicles."

Bryana Rivers is a second year genetic counseling student in the University of Cincinnati Genetic Counseling Program. As an African American female in a field that is >90% White, Bryana has a passion for increasing diversity within the profession of genetic counseling. Bryana talks about possible reasons for the lack of diversity within the field, ways this might be addressed, and shares her own path to the field of genetic counseling. Story Reference Points: Bryana’s experience at her first NSGC annual conference @ 1:45 Bryana’s path to the field of genetic counseling and experience as a GC Assistant at Hopkins @ 3:23 Why does diversity matter? @ 6:53 Bryana’s own experiences as a patient who is an ethnic minority @ 8:26 How race came up in one of Bryana’s genetic counseling sessions @ 11:06 Less obvious impacts of race on genetic counseling sessions @ 15:59 Why is genetic counseling so White? How can we diversify? @ 17:40 Representation Matters-- and the experience of attending the Minority Genetics Professionals Meetup at NSGC @ 21:56 Gender diversity within genetic counseling… a topic for another podcast?! @ 24:32 The makeup of Bryana’s genetic counseling class & contrast with her undergrad experience @ 26:31 What White female genetic counselors should understand about diversity @ 28:49 Links and Resources Bryana’s blog post: ”This Is What I Know. Now What Can We Do? – Racial Diversity in Genetic Counseling” Articles cited by Bryana: Studying the Needles in the Haystack: A Qualitative Study of African-American and Latino Genetic Counselors. Amanda Kass and Larissa Veres. Human Genetics Theses and Capstones. The Joan H. Marks Graduate Program in Human Genetics. May 2016. Diversity in genetic counseling: past, present and future. Mittman Is. Downs K. Journal of Genetic Counseling. 2008 Aug;17(4):301-13. Connect with Bryana on Twitter@GcBry Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointme

Patient stories is taking a hiatus. We will be back in July with a second season and already have some interviews recorded that we are excited to share with you. We would also love to hear from our audience as we plan our second season! Why do you listen? What have you liked best? What would you like to hear more of? We’ve created a google form to collect your input! This is not a news podcast... Patient Stories do not expire! Check out all 50 Patient Stories podcast episodes to date here!  Read Patient Stories on the Grey Genetics Patient Stories Page. Help others find Patient Stories by leaving us a review on iTunes. Support Patient Stories by making a donation online! Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

As a newborn, Anne Fricke’s second daughter Freya had trouble nursing, slept really soundly, and had hypotonia (low muscle tone). At three and a half months of age, Freya was diagnosed with Prader-Willi syndrome. Anne shares her family’s experience with Freya’s initial diagnosis, how she found support within the Prader-Willi community, and what their challenges are now that Freya is 8 years old. Anne also shares how she has used writing and poetry to help process her feelings and how this led her to start her podcast, Walking With Freya. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources Anne Fricke’s website Walking With Freya podcast episodes Episode 4: “Diagnosis” Episode 53: Anne interviews Eleanor about Grey Genetics and genetic counseling Anne’s poem “Kintsugi” Purchase the writing journal Anne created: There Is Joy To Be Found Here; a writing journal for parents of children with special needs Prader-Willi California Foundation (PWCF) Prader-Willi Syndrome Association (USA) Follow Anne’s podcast Walking with Freya on Social Media: Walking with Freya on Instagram: @walkingwithFreya Walking with Freya on Facebook Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Tracy Milgram-Posner learned that she carried a BRCA2 mutation when she was just 21 years old. In the pre-Angelina Jolie era, feeling alone and isolated, she started a FacebookGroup, BRCAStrong, which has since grown into a 501(c)(3) non-profit whose mission is “To support, educate, inspire and empower Previvors and Survivors. To eliminate the feeling of isolation and help them feel whole again.”  Tracy shares how learning she had a BRCA2 mutation at such a young age impacted her life decisions;  how she feels she wasn’t given enough education related to the effects of having her ovaries removed at just 32 years old; how helpful telehealth genetic counseling was for her even years after her diagnosis—and how she wished she had received the benefit at the time of her diagnosis; and how she navigates talking to her young children about BRCA-related risks. (Spoiler: She gives a big shoutout to Proactive Genes!) Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources BRCAStrong Proactive Genes My Gene Counsel Connect with BRCAStrong on Social Media: BRCAStrong on Instagram: @brcastrong BRCAStrong on Facebook BRCAStrong on YouTube Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Embree Ray Alexander was born June 11, 2017 and was healthy and happy for the first part of her life. Around seven months of age, it started to become clear that something was wrong. An MRI of the brain suggested a type of leukodystrophy, initially thought to be Tay Sachs disease. At eleven months of age, she was diagnosed with Sandhoff disease, an autosomal recessive condition that presents the same as Tay Sachs but is more rare. Embree’s parents, Caitrin and Kyle, were told that Embree’s life expectancy would be about two, possibly three years. Her disease progressed quickly, and they lost their daughter at just 15 months of age. Caitrin and Kyle love remembering Embree and are passionate about raising awareness for Sandhoff and other allied diseases. Since we recorded this interview, Caitrin has become pregnant through PGD (Preimplantation Genetic Diagnosis) and IVF, with support from Baby Quest, and is expecting a baby who has already tested negative for Sandhoff disease in July 2020. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources Embree's page on NTSAD & The Embree Alexander Fund National Tay-Sachs & Allied Diseases Association (NTSAD) BabyQuest Foundation Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here

Erika and Garin were 30 weeks into a complicated pregnancy when they learned that their pregnancy was not viable. Erika was denied an abortion due to New York’s 24 week cut-off so the couple travelled to Colorado to terminate her pregnancy. Their experience with New York’s abortion law, and the realization about how others were affected by it, led them to share their story publicly and advocate for reform. They founded the RHAvote campaign, the grassroots home for the Reproductive Health Act (RHA), a bill that decriminalized abortion in New York and brought the state’s regulation of abortion in line with Roe vs Wade. They worked alongside a statewide coalition, and in January 2019, New York finally passed the RHA after being stalled for almost a decade. After seeing the power of patient narratives first hand, they began organizing later abortion patients across the country (PatientForward.org). They are also parents to a 2½-year-old-daughter, Pepper. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Related Links and Resources PatientForward RHAvote.com Erika & Garin on Twitter: @RHAVote Tolentino, Jia. “Interview With a Woman Who Recently Had an Abortion at 32 Weeks.” Jezebel. June 15, 20216. Tolentino, Jia. “How Abortion Law in New York Will Change, and How It Won’t.” The New Yorker. January 19, 2019. The New York Times Editorial Board: A Woman’s Right (Series). The New York Times. December 28, 2018. Tolentino, Jia. “Interview with Dr.” The Hairpin. September 20, 2013. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast that we think some of our listeners may enjoy: Walking with Freya, hosted by Anne Fricke. In this 53rd episode of Walking with Freya, Anne interviewed me about genetic counseling. We talked about the kind of work that genetic counselors do, some of the reasons people see a genetic counselor, and differences between an MD Geneticist and a Genetic Counselor. Walking with Freya is a podcast that Anne created to share her story of raising a daughter with Prader-Willi Syndrome, and to give space for other parents and caregivers of children with special needs to tell their stories. Check out her episodes to date here!  I also interviewed Anne about her experience with her daughter’s diagnosis of Prader-Willi syndrome. Watch for that episode to come out in March! Walking with Freya on Instagram: @walkingwithfreya

Julie McConnel was in her mid 40s and hoping for a little girl to complete her family. Instead…. She had twin boys with Down syndrome. Julie shares her grief over the diagnosis, her concerns about whether or not she and her husband could handle twins with Down syndrome and their hesitation to parent—and how she now couldn’t imagine her life without Charlie and Milo. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources Julie’s story on the NDSAN blog Julie’s guest blog post on Cedars Story: Changing Perceptions of Down Syndrome The National Down Syndrome Adoption Network National Down Syndrome Society Down Syndrome Diagnosis Network Kids’ Waivers: information on Katie Beckett and other similar programs Born This Way: a TV series that follows a group of seven young adults with Down syndrome “Genetic Testing and the Rush to Perfection,“ National Council on Disability, October 23, 2019. Follow Charlie and Milo on Social Media: Charlie and Milo on Instagram: @chucklesandmeatloaf Charlie and Milo on Facebook Related Grey Genetics News Corner blog posts: Mitigating Misinformation: Spreading Awareness for Down syndrome NIPS: More Than Just a Sex Reveal Adoption as an Option: The National Down Syndrome Adoption Network Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page. Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Stephanie Thompson still vividly remembers when her son Christopher, now 27 years old, received a diagnosis of Down syndrome. As a young woman and a first time mother, the diagnosis came as a shock. What she wishes her younger self knew? That it would be okay. Stephanie worked for eleven years in many different roles within the Down Syndrome Association of Greater Cincinnati and has deep insights into when, where and how a diagnosis of Down syndrome is given to parents and how this can be handled better. Today, Stephanie is the Director of the National Down Syndrome Network (NDSAN), whose mission is to ensure that every child born with Down syndrome has the opportunity to grow up in a loving family. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources National Down Syndrome Adoption Network Resources for Patients New & Expectant parent information   NDSAN video for new & expectant parents List of local Down syndrome parent groups  Babies with Down Syndrome: A New Parent’s Guide Resources for Medical Professionals Delivering a Down syndrome diagnosis Additional Resources for Medical Professionals Stephanie’s blog post on the Grey Genetics News Corner: Adoption as an Option: The National Down Syndrome Adoption Network Stephanie’s interview on The Lucky Few podcast: Adoption & Down Syndrome w/Stephanie Thompson from the NDSAN Connect with NDSAN on Social Media: NDSAN on Instagram: @ndsan321 NDSAN on Twitter: @dsadoption NDSAN on Facebook NDSAN on LinkedIn “National Council on Disability Recommends More Regulation of NIPT.” Genome Web, October 23, 2019.  Genetic Testing and the Rush to Perfection, National Council on Disability, October 23, 2019. Donate to Patient Stories Leave us a review on iTunes Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Patient Stories is taking a break this week for the holidays. We'll be back in 2020 with new episodes.  Check out all of our Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Georgia Hurst lost one brother to colon cancer when he was only 36 years old. When her second brother was diagnosed with colon cancer, he had genetic testing done and tested positive for MLH1-associated Lynch syndrome. Georgia went on to also test positive for Lynch syndrome. While she credits her Lynch syndrome diagnosis with ensuring regular and life-saving colonoscopies, her total hysterectomy had significant consequences for her health. Georgia shares insights on the repercussions of removing the ovaries as well as on the need for genetic testing to be approached thoughtfully, with an eye toward medical actionability for the individual. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources Blog posts by Georgia in Cure magazine NSGC’s tool: Find a Genetic Counselor  Schedule a genetic counseling appointment through Grey Genetics Georgia’s interview on the DNA Today podcast Georgia’s interview together with Ellen Matloff on the We Have Cancer podcast Connect with Georgia on Social Media: Georgia on Twitter: @_GeorgiaHurst Follow #GenCSM  Kamp, Bailey, “Unearthing The Past That Could Affect Your Future: How Family Health History Could Change Your Life.” Grey Genetics News Corner Blog post.  Read more about cancer genetics Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Ann Jeffers Brown has a total of fifteen years’ experience in both clinic and industry. In this episode, she shares a case from early in her career: a late diagnosis of Lynch syndrome. Her experience with a Lynch syndrome patient who missed out on the opportunity of potentially life-saving information, continues to motivate her to this day to spread awareness about the significance of cancer family history, the importance of recognizing patterns of hereditary cancer within a family, and the potential for diagnostic genetic testing to provide different and potentially life-saving medical care. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Tools for Collecting Family Health History FamHis Surgeon General: My Family Health Portrait NIH: Families SHARE Family HealthLink TapGenes Links and Resources Grey Genetics News Corner blog post: Why Have You Never Heard of Lynch Syndrome? NSGC’s tool: Find a Genetic Counselor  Schedule a genetic counseling appointment through Grey Genetics Order a family history review through Grey Genetics Connect with Ann on LinkedIn Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Like millions of other Americans, Alicia Valladao did a DNA ancestry test when there was a sale, eager to learn more about her roots. Through the testing, she was surprised to learn that her biological father was not who she had thought he was. Alicia discusses the identity crisis and disenfranchised grief that followed, where and how she found support, and how this information has impacted her family relationships. Alicia has become active in Not Parent Expected, or NPE Groups, and is also currently writing a memoir. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources Alicia’s story on the NPE Podcast Description without hyperlink: DNAngels Facebook Group DNA Surprise Support Facebook Group NPE Only After The Discovery Facebook Group Watershed DNA: Genetic counseling services focused on genealogy and ancestry. A DNA Guide for Adoptees: addresses topics relevant to anyone doing a family search Connect with Alicia on Social Media: Alicia on Facebook Alicia on Instagram: @notparentexpected Alicia on Twitter: @npealicia Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

At 19, Terri Wingham learned that she had inherited a BRCA1 mutation from her father. At 23, she started an enhanced breast screening protocol, and at age 30 she was diagnosed with triple negative breast cancer. While she expected cancer to be awful, she didn’t expect Surviving cancer to be so difficult. Her struggle with depression and to find meaning and connection in this new phase of her life led her to found A Fresh Chapter—a non-profit organization that facilitates volunteer and leadership experiences to empower people impacted by cancer to reframe adversity and discover possibility and purpose in their lives. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources  A Fresh Chapter Terri’s story on Grey Genetics' Patient Stories page Terri’s talk at Stanford Medicine X 2013 Man’s Search for Meaning on IndieBound. Connect with A Fresh Chapter on Social Media: On Twitter: @afreshchapter On Instagram: @afreshchapter On Facebook On LinkedIn Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page. If you'd like to share your story on this page, email us at [email protected].  Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Chelsea London Lloyd is an actress and comedian living in L.A. She holds a BA in theatre from USC. Growing up, her dad had ALS and her mom had breast cancer. Her mother’s breast cancer returned 17 years later at stage 4, which she has combated for the past three years. Chelsea interviews women with sick parents and features their stories on her blog, Daughters of Sick Parents. Next up is her podcast, DYING OF LAUGHTER, where she speaks with comedians who have a lost a parent. Email [email protected] to be the first to know when it’s released this fall! Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources Chelsea’s website Chelsea’s blog: Daughters of Sick Parents Follow Chelsea on Instagram: @_ChelsWhoElse_ Follow Daughters of Sick Parents on Instagram: @daughtersofsickparents Check out other Patient Stories podcast episodes Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

When Erika was 7 years old, her mother was diagnosed with breast cancer; her mother was only 28 years old. At age 42, Erika’s mother was diagnosed with breast cancer for a second time and she was finally offered BRCA testing. Erika later learned that she also carried the same BRCA2 mutation and opted for a prophylactic bilateral mastectomy with reconstruction. After her own experience with genetic testing and the hard decisions that followed, Erika became motivated to advocate for other women facing the same situation, specifically young black women who are underserved by genetic counseling and testing. She writes and speaks often about her experience and is also the founding co-chair of the Young Leadership Council for the Basser Center for BRCA. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources Erika’s website A selection of Erika’s related writings: “Genetic Counselors Of Color Tackle Racial, Ethnic Disparities In Health Care” “Phantom Pains: Life after a double mastectomy” “What No One Tells You About Your BRCA Mutation” “This Is How the American Healthcare System Is Failing Black Women” Connect with Erika on Social Media: Erika on Twitter: @quidditch424 Erika on Instagram: @quidditch424 Related Grey Genetics News Corner blog posts: ASBS recommends genetic testing for ALL women with breast cancer NCCN Expands Genetic Testing Criteria to Include More Women with Breast Cancer What Can 23andMe Results Tell You About Your Breast Cancer Risk? Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern.

Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast related to Genetics that we think some of our listeners may enjoy: DNA Today: A Genetics Podcast, hosted by genetic counseling student Kira Dineen. DNA Today informs you on what’s happening in the genetics world.  In this episode, Kira interviews Eleanor about Grey Genetics, a telehealth company and the sponsor of Patient Stories. If you want to hear more about what we’re up to at Grey Genetics, listen to this episode! If you want to hear Kira interview other guests about current issues in genetics, check out her other episodes here. You can find DNA Today on Twitter, Instagram, Facebook and iTunes.

Amy Byer Shainman, also known as the BRCA Responder, is a BRCA1 mutation carrier and previvor as well as a passionate patient advocate providing education and support for others with BRCA mutations and other hereditary cancer syndromes. Amy has appeared in numerous news articles and television segments sharing her story while stressing how important certified genetic counseling is in the genetic testing equation. She is the Executive Producer of the award winning BRCA documentary Pink & Blue: Colors of Hereditary Cancer, and an administrator of the Facebook Group BRCA Sisterhood, which has over 10,0000 members. She recently published a health and medical memoir, Resurrection Lily: The BRCA Gene, Hereditary Cancer, & Lifesaving Whispers from the Grandmother I Never Knew. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Links and Resources Amy’s website: BRCA Responder Buy Resurrection Lily through Indiebound Watch Pink and Blue: Colors of Hereditary Cancer through Google Play or iTunes. Lady Parts The Film Connect with Amy on Social Media: Amy on Twitter: @BRCAResponder BRCAResponder on Instagram: @brcaresponder Amy on Facebook  Amy on LinkedIn Buy Pretty is What Changes through Indiebound Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? Make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Shannon’s son James was a little slower than most babies to meet his developmental milestones, but it wasn’t until after he had his first seizures that he was finally diagnosed with Tay-Sachs, a rare, inherited, autosomal recessive condition that progressively destroys nerve cells in the brain and spinal cord. Shannon and her husband had a total of just 27 months with James. Shannon shares how after receiving the diagnosis, she learned to live in the moment and appreciate the time she had with him. Her experience has also made her an advocate for offering patients expanded carrier screening—ideally before pregnancy! Leave us a short voice message about your experience or thoughts on the episode here! We may use your message on a future show. Links and Resources National Tay Sachs and Allied Diseases Association Cure Tay-Sachs Foundation Connect with Shannon on Instagram: @shannonmiller9 Book recommendation: It’s OK that you’re not OK: Meeting Grief and Loss in a Culture That Doesn't Understand, by Megan Devine More from parents of children with Tay Sachs Carla Steckman’s Blog Interview with Carla on the Call Your Mother podcast: ”A Mother, Not a Hero” Three Short Years: Life Lessons in the Death of My Child, by Becky Benson The Still Point of the Turning World, by Emily Rapp Are you pregnant or planning a pregnancy and wanting to speak with a genetic counselor? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. You can browse our Network of genetic counselors or go straight to our scheduling page to book an appointment. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. More resources from Grey Genetics Grey Genetics News Corner blog post: Expanded Carrier Screening & Frequently Asked Questions Prenatal Genetics Resources Page Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Schedule a genetic counseling appointment with a genetic counselor specialized in your area of concern.

Like millions of other Americans, Dorothy Pomerantz took a 23andMe test on a whim. And like many other Americans, she received some results back that came as a surprise. Just a few weeks ago, she wrote an article in STAT News, sharing her experience of receiving BRCA positive results through 23andMe. Do you have a 23andMe Story to share? You can now leave us a short voice message about your experience or thoughts on the episode here. We may use your message on a future show. Related Links and Resources Pomerantz, Dorothy. ”23andMe had devastating news about my health. I wish a person had delivered it.” STAT News. August 8, 2019. Robbins, R., Garde, D. Feurstein, A. ”A writer shared her story about getting frightening genetic results online. The response was surprising.” August 19, 2019. Follow Dorothy on Twitter: @DorothyPWrites Information about the (lack of) regulation of genetic tests from the NIH National Human Genome Research Institute Riley J and Stoll, K. Blurred Lines: Comparing Direct-to-Consumer and Clinical Testing. Clinical Lab News, AACC. July 1, 2019. Kilbride, MK. Domchek, SM. Bradbury, Angela R. How Should Patients and Providers Interpret the US Food and Drug Administration’s Regulatory Language for Direct-to-Consumer Genetic Tests? Journal of Clinical Oncology. June 7, 2019. Levenson, Deborah. The Case for Population-Based BRCA1 and BRCA2 Testing . Clinical Lab News, AACC. May 1, 2016. King, MC, Evy-Lahad, E. Lahad, A. Population-Based Screening for BRCA1 and BRCA2. 2014 Lasker Award. JAMA. September 17, 2014. Related Grey Genetics News Corner blog posts: What Can 23andMe tell you about your breast cancer risk? NCCN Expands Genetic Testing Criteria to Include More Women with Breast Cancer Family history of breast cancer matters—even and especially when genetic test results are negative. Support Patient Stories! You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern.

Leah Moore’s oldest child, Jordan, was diagnosed with Cri du Chat syndrome when she was 18 months old. The diagnosis ushered their family into an unexpected world that meant radically different expectations for their daughter’s life. Thanks to Early Intervention, at age 8, Jordan has already surpassed initial expectations: she walks, she talks, and she loves her two younger twin brothers. Leah describes how her family is similar to and also very different from other families and provides a window into what it is like to be the mother of an 8-year-old daughter with special needs. For Leah, self-care involves writing, and her primary outlet has been her blog, Loving You Big. Leah is also finishing up a book by the same name. Links and Resources Leah’s Blog: Loving You Big Leah’s personal narrative piece that kicked off her blog: "The Irony of Language" Description without hyperlink: 12-minute documentary film (2012) about Cri du Chat, featuring Leah’s daughter Jordan “Welcome to Holland” Five P Minus Society Shane’s Inspiration Connect with Leah: Leah on Twitter: @LeahMooreWriter Leah on Instagram: @lhm629 Leah on Facebook Email Leah Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new review services here.

Five days after Allison’s son Isaac was born, she received a phone call from her physician’s office, telling her that her son had received positive test result on Newborn Screening (NBS). A long two days later, they were meeting with a geneticist at a hospital an hour and a half drive away, learning what a diagnosis of Glutaric Acidemia (GA-1), a rare metabolic disorder only part of NBS since the mid-2000s, meant for their son and their family. Allison is a passionate advocate for NBS and shares studies she has been involved with that point to ways to improve parents’ experience with receiving positive NBS results—and ideas for involving genetic counselors early in the process! Allison is also currently a second year genetic counseling student in the graduate program at Bay Path University. Links and Resources Baby’s First Test Organic Acidemia Association Medical Nutrition Equity Act Information on Katie Beckett and similar programs: Kids’ Waivers Genetic Alliance Rare New England (RNE) New England Regional Genetics Group (NERGG) Bay Path University Genetic Counseling Program Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here

When Missy Zolecki learned that she had a family history of Fragile X syndrome (FXS), she sought out carrier testing, thinking that she and her fiancé would not have children if she learned she was at risk for having a child with FXS. Fast forward 21 years later, Missy and her husband have been married 21 years and have three children, the oldest of whom is 18 years old and has Fragile X syndrome. Missy discusses how her religious faith influenced her decision making process around the option of IVF and Preimplantation Genetic Diagnosis (PGD), available only under a research protocol in 2000. She shares how she moved from anger at medical errors to appreciating the people and the opportunities that her son’s diagnosis of FXS has brought into her life. Missy explains how an accurate diagnosis of Fragile X—the leading genetic cause of autism—can be incredibly helpful in providing optimal care and education for children with Fragile X. She also shares her passion for women being offered preconceptual carrier testing for Fragile X for women, giving them choices and allowing them to make informed decisions. Links and Resources National Fragile X Foundation (NFXF) Connect with the National Fragile X Foundation on Social Media: NFXF on Twitter: @nfxfoundation NFXF on Instagram: @nfxfoundation NFXF on Facebook NFXF on YouTube Other Related Resources CDC recommendations and guidelines related to diagnosis and evaluation of ASD The CDC on Fragile X Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Looking for some guidance but not ready to book a genetic counseling appointment? You can also check out our new review services here.

When Abigail Patenaude was 16 years old, routine blood work showing elevated LFTs (liver function tests) led to a diagnosis of Wilson Disease, an autosomal recessive condition which is more often diagnosed much later in life (if at all) after hepatic or neurological symptoms caused by an accumulation of copper in the body. Abigail discusses why an early diagnosis of Wilson Disease was so lucky and how her experience with genetic counseling as a patient led her to pursue a career in genetic counseling. At the time that we recorded this interview, Abigail was nearing graduation from Sarah Lawrence College with a Masters in Human Genetics. What has surprised her the most in her training? That things are rarely straightforward in genetic counseling! Links and Resources Wilson Disease Association Connect with the Wilson Disease Association on Social Media: Wilson Disease Association on Twitter: @wilsondisease Wilson Disease Association on Facebook Do you also have Wilson Disease? Send Abigail an email! Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

When Vicki was diagnosed with breast cancer for the third time at age 47, she was finally offered genetic testing and learned she carried a mutation in the BRCA2 gene. When her brother Harvey learned there was a 50/50 chance he could be carrying the same mutation, he didn’t think too much about it. Two years later, he felt a lump in his breast and was diagnosed with breast cancer. 18 months later, he was diagnosed with prostate cancer. After experiencing how hard it was to find information and support related to breast cancer in men, Harvey and Vicki were driven to found HIS Breast Cancer. They are passionate about reframing breast cancer not as a woman’s disease but as a human disease that affects both men and women. Links and Resources HIS Breast Cancer Facing Our Risk of Cancer Empowered (FORCE) Harvey’s book on Amazon: Sir! You Have Breast Cancer Documentary Pink & Blue: Colors of Hereditary Cancer on iTunes and on Amazon. Connect with HIS Breast Cancer on Social Media: HIS Breast Cancer on Twitter: @hisbreastcancer HIS Breast Cancer on Instagram: @HISbreastcancer HIS Breast Cancer on Facebook Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Fran Emmolo Gamella is a young mother of two living with Familial Hypercholesterolemia. She was diagnosed with FH in her mid-20s but it wasn’t until she had a heart attack at age 31 that she became really serious about her medical care. Her six-year-old daughter has also been diagnosed with FH. Fran works as a Medical Assistant in a primary care practice setting and is passionate about raising awareness for FH. LDL of >190— definitely get it checked out! Story Reference Points: Fran’s diagnosis with FH in her mid-20s… and her 6yo daughter’s diagnosis @ 1:52 So…. what is FH? @ 7:49 23andme and FH testing @ 11:28 Misperceptions of what it “looks like” to have high cholesterol @ 13:55 Fran on being a non-compliant or “bad” patient @ 16:55 Fran’s heart attack… and her denial of the symptoms @ 18:30 Adjusting to what it takes to live a healthy life with FH @ 22:40 Challenges of insurance coverage @ 25:34 Links and Resources The FH Foundation Connect with the FH Foundation on Social Media: The FH Foundation on Twitter: @TheFHFoundation The FH Foundation on Instagram: @fhfoundation The FH Foundation on Facebook Grey Genetics News Corner blog post: Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients. National Lipid Association. 2011. Grey Genetics News Corner blog post: What can 23andMe results tell you about your cholesterol-related risks? Listen to a previous Patient Stories Podcast with Colleen McCready: Familial Hypercholesterolemia: The Symptomless Sickness Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. To see a list of genetic counselors who specialize in cardiovascular genetics, visit https://greygenetics.as.me/cardiovascular

We are re-sharing an interview that has been a favorite for many listeners. May is Cystic Fibrosis Awareness Month, and Sophie is embarking on another adventure and fitness challenge. This time, it’s Crossing For A Cure—80 miles on a paddle board from Florida to the Bahamas to raise money to find a cure for Cystic Fibrosis. Sophie Grace Holmes was born with Cystic Fibrosis (CF). When she was 19, a doctor told her she was going to die within a few years. She set out to prove him wrong, quitting her office job and organizing her life around health and fitness. Sophie is now 27 years old. She is a fitness model, a trainer, a massage therapist and a motivational speaker. She thrives on challenges, and her many accomplishments include completing a 100k and summiting Mt. Kilimanjaro and Mt. Blanc. Story Reference Points: What is Cystic Fibrosis? @ 1:49 Sophie's diagnosis with Cystic Fibrosis @ 3:15 Sophie's turning point at 19 @ 6:19 Sophie's recent climb of Mt. Blanc @ 14:36 Social Media and CF @ 19:35 Pioneering better treatment plans for CF with a focus on exercise and nutrition @ 22:54 Sophie's perspective on bringing a child with CF into the world @ 30:58 Sophie's perspective on life expectancy and plans for the future @ 33:35 Links and Resources Sophie on Instagram Crossing for a Cure on Instagram Piper’s Angels Sophie’s website Cystic Fibrosis Trust (U.K. org) The Cystic Fibrosis Foundation (U.S. org) Newborn Screening in the U.K. Newborn Screening in the U.S. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

After years of misdiagnoses, Seth Rotberg’s mother was finally diagnosed with Huntington’s Disease (HD) when he was 15 years old. At the age of 20, Seth had genetic testing and also tested positive for HD. Initially, Seth stayed in the “genetic disease closet,” telling only close friends about his positive test results and waiting 3 years to tell his father and sister. The loss of two close friends at a young age shifted Seth’s perspective, inspiring him to open up about his positive genetic testing results, to strive to live fully in the present while hoping and working toward a brighter future and a cure for HD. Story Reference Points: What is Huntington’s Disease (HD)? @ 1:45 Seth’s mother is diagnosed with Huntington’s Disease @ 4:07 Seth has genetic testing done for HD at age 20 @ 14:22 Why Seth wishes he’d had genetic counseling before HD testing @ 18:44 Seth seeks out genetic counseling 6 years after testing @ 23:25 Seth becomes involved with HD support organizations @ 25:04 Seth loses a close friend in an accident @ 27:25 HD and research @ 31:52 The genetic disease closet @ 35:00 HDYO, HDSA, and HD Buzz as resources @ 36:55 Misconceptions surrounding HD @ 39:49 Links and Resources Seth’s website Seth’s TEDx talk HD Resources: Huntington’s Disease Youth Organization Huntington’s Disease Society of America HD Buzz Connect with Seth on Social Media: Seth on Twitter: @Srotberg15 Seth on Instagram: @Rotberg15 Watch for Seth’s upcoming interview on the DNA Today Podcast Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Check out our new family history review services here

When Cherielee was 26 years old, she was found to carry a mutation in the CDH1 gene. Her genetic diagnosis led her down a path that included a prophylactic gastrectomy at the age of 30, followed by multiple complications. Today, Cherielee is 31 years old, still recovering but very glad of her decision to undergo prophylactic surgery and grateful for her aunt's cancer diagnosis and testing that allowed her to take steps to prevent cancer. Cherie is passionate about the need for doctors to focus on their patients’ cancer family history and either offer hereditary cancer testing or refer their patients on to a genetic counselor. She also recently started an Instagram account focused on Stomach Cancer Awareness: @previvor_perspective Story Reference Points: Cherie’s aunt is found to carry a CDH1 mutation @ 1:56 Cherie’s mother gets involved with No Stomach for Cancer and has genetic testing done through a genetic counselor @ 7:17 Medical management for someone with a mutation in CDH1 @ 10:30 Cherie and her younger brother and sister consider testing @ 15:26 Cherie receives her positive test results @ 17:57 From screenings to prophylactic gastrectomy @ 19:59 Multiple complications and a long recovery @ 24:04 Adjusting to life without a stomach @ 29:40 Breast screenings and a decision about prophylactic mastectomy @ 34:15 Cherielee’s story inspires her fiancé’s career @ 35:52 Cascade testing saves other relatives’ lives @ 39:40 Looking ahead to family planning @ 40:54 Inspiration to start the @previvor_perspective instagram account @ 43:32 Why are doctors missing patients who should be offered testing? @ 47:07 Links and Resources Cherie’s Instagram focused on Stomach Cancer Awareness: @previvor_perspective No Stomach for Cancer Facing Our Risk of Cancer Empowered (FORCE)/a> Cherie on Linkedin Cherie on Facebook Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in hereditary cancer or in or another area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Check out ou

Sarah Messali tested positive for a mutation in the BRCA2 gene when she was 18 years old. By her early 20s, she was getting regular breast screenings. Watching her mother go through a diagnosis of triple negative breast cancer solidified her decision to pursue a prophylactic mastectomy with reconstruction. Sarah has written extensively about how her surgeries and long recoveries have impacted her life and her young children. Her writing includes a deeply personal look at how she feels about her breasts and how this has impacted her self-esteem, her dating life, and her passion for weightlifting, health, and physical fitness. Story Reference Points: Sarah’s BRCA2 positive result at age 18 @ 1:42 Sarah’s decision to pursue a prophylactic mastectomy @ 5:46 Breast reconstruction outcomes @ 13:45 Breast reconstruction, fitness, and 2nd opinions @ 17:44 Sarah loses her aunt to breast cancer in 2nd grade @ 24:53 Dating in a new chapter of life @ 27:10 Sarah’s boudoir photo shoot @ 31:25 Connect with Sarah on Social Media: Sarah on Instagram: @SarahNMessali Sarah on Twitter: @SarahMessali Links and Resources “I Love my Body More, Since Having a Mastectomy.”Worthy.October 14, 2018. BRCA Fitness and Nutrition Facebook Group Check out other Patient Stories podcast episodes. Read one of Sarah’s blog posts as well as other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Use this link to book with one of our growing number of genetic counselors who specialize in cancer genetics!

Janine Mash is a certified genetic counselor and the founder of San Francisco Genetic Counseling, a private practice genetic counseling service. She specializes in reproductive and prenatal genetic counseling, which means that pregnancy loss and trisomies specifically have come up a lot in her career. Janine is passionate about Options Counseling as it relates to pregnancy—making sure that patients are aware of the available testing options and are able to make informed decisions about the many increasing number of testing options during pregnancy. Janine shares her own story of pregnancy loss as well as her perspective on Non-Invasive Prenatal Screening (NIPS) and Expanded Carrier Screening. Story Reference Points: Janine’s path to genetic counseling and her experience in genetic testing labs as well as clinical practice @ 1:56 Impact of trisomies and other aneuploidies on fertility and miscarriage @ 4:32 Aneuploidy in the context of IVF and PGS @ 10:04 Janine’s experience with her own miscarriage @ 12:20 Miscarriage… and recurrent miscarriage @ 15:12 Patient story related to genetic testing on products of conception (POC) @ 17:47 Changes in screening for trisomies during pregnancy—including Non-Invasive Prenatal Screening (NIPS) @ 19:55 Options Counseling! @ 30:15 Expanded Carrier Screening @ 33:00 Normalization of pregnancy loss—and taking an active role in your pregnancy planning and decisions @ 37:54 Links and Resources San Francisco Genetic Counseling Book a genetic counseling appointment with Janine! All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Connect with Janine on Social Media: SF Genetic Counseling on Instagram: @sfgeneticcounseling SF Genetic Counseling on Facebook Janine on LinkedIn Grey Genetics News Corner blog post: "Expanded Carrier Screening & Frequently Asked Questions" Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

At just 35 years of age, Stacey Wilson was diagnosed with Stage III Colorectal Cancer. Nine months later, with surgery and chemotherapy behind her, Stacey met with a genetic counselor, had hereditary cancer testing done, and received an explanation for why she was diagnosed with colorectal cancer at such a young age, and with no family history of colorectal cancer: She had a genetic diagnosis of MAP (MUTYH-Associated Polyposis), an autosomal recessive hereditary cancer syndrome caused by mutations in both copies of the MUTYH gene. Stacey is passionate about raising awareness for Colorectal Cancer, the possibility of preventing colorectal cancer in many cases through screening colonoscopies, and the benefits of genetic testing for those diagnosed at a young age or with a significant family history of colorectal cancer. She also shares why she has mixed feelings about 23andMe’s MUTYH testing and direct-to-consumer genetic testing in general. Story Reference Points: What is MAP? @ 2:05 Stacey’s diagnosis of colorectal cancer at age 35 @ 3:00 The wonders of Nurse Navigators and deciding on the right course of treatment @ 5:40 Referral to genetic counseling discussion of possible results @ 8:26 Disclosure of genetic testing results and Stacey’s follow-up with doctors @ 11:40 From MD Anderson and back to Indy: Stacey’s continued screenings--and incidental findings @ 13:25 Variable polyp burden with MAP and dealing with limited information @ 17:26 How common is MAP really? @ 22:00 Stacey’s response to individuals who hesitate to have a colonoscopy done @ 23:43 Implications of Stacey’s MAP diagnosis for her children and navigating testing for her husband @ 26:03 Stacey’s mixed feelings about 23andMe adding the two common MUTYH variants to their health report--and at-home genetic testing in general @ 29:37 Stacey’s change in perspective about family history and cancer risk @ 32:27 Stacey’s advice to someone diagnosed with colorectal cancer The importance of being your own advocate and seeking out second opinions @ 38:08 Colon Cancer Awareness! @ 41:50 Links and Resources Stacey’s blog post on the Colon Cancer Coalition Website: ”Life with MAP: Becoming My Own Advocate” Stacey featured on the Colon Cancer Coalition website: Faces of Blue: Stacey Wilson Grey Genetics News Corner blog post What Can 23andme tell you about your colorectal cancer risk? Colon Cancer Coalition Colorectal Cancer Alliance Fight Colorectal Cancer American Cancer Society Guideline for Colorectal Cancer Screening Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social

Danaé was 10 years old when her younger brother’s lens dislocation led to her own diagnosis of Homocystinuria (HCU). When Danaé was 24 years old, she developed a blood clot in her wrist that served as a wake-up call for her to focus on her health and to learn how to eat a low-protein diet. She became involved with the local PKU Organization of Illinois, connecting with others who had a different diagnosis but similar dietary restrictions. Today, Danaé is the co-founder and Executive Director of HCU Network America, whose mission is to help patients with HCU and related disorders manage their disease and find a cure. Story Reference Points: What is Homocystinuria (HCU)? @ 1:50 Danaé’s path to a diagnosis @ 3:30 Treatment for Homocystinuria @ 12:26 HCU: A Challenge for Newborn Screening @ 14:58 Danaé’s turning point: a blood clot in wrist @ 19:07 Connecting with a local PKU organization and tackling the challenges of a low-protein diet @ 25:11 The beginnings of HCU Network America @ 33:42 HCU Network America’s work and NBS challenges @ 40:32 HCU Network America’s challenges in reaching metabolic clinics @ 46:47 Importance of and lack of access to metabolic dietitians, particularly during pregnancy @ 52:39 Shout out to Kisha Johnson, Danaé’s metabolic genetic counselor @ 57:41 Links and Resources HCU Network America Read Danaé’s story along with other Patient Stories on the Grey Genetics Patient Stories Page Find a metabolic clinic that treats patients with homocystinuria Additional metabolic clinics More on Newborn Screening: Baby’s First Test Connect with HCU Network America on Social Media: HCU Network America on Twitter: @HCUAmerica HCU Network America on Instagram: @hcu_network_america HCU Network America on Facebook HCU Network America on YouTube Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Effie and her husband’s initial concerns about their son Ford were brushed aside. But by the time Ford was 3 months old, he was failing to thrive. Soon, Effie was initiated into the world of special needs and the diagnostic odyssey. When Ford was 16 months old, thanks to Whole Exome Sequencing, he was finally diagnosed with CTNNB1 Syndrome, a rare genetic condition caused by a de novo mutation in the CTNNB1 gene. Today, Ford is nearly 2 ½ years old. Ford’s diagnosis has allowed Effie to connect with other parents of children with CTNNB1 Syndrome. Together, they have also started an organization to raise awareness for CTNNB1 Syndrome and to support and connect with other affected families. Story Reference Points: What is CTNNB1 Syndrome? @ 1:32 Effie’s path to a diagnosis for her son Ford @ 4:54 Effie’s experience with Genetics WES (Whole Exome Sequencing) for Ford @ 11:54 A genetic diagnosis opens up a network of CTNNB1 parents @ 17:22 Being a parent of a child with special needs @ 21:20 A second pregnancy, self-advocacy, and a sibling for Ford @ 28:24 Social media and other helpful resources @ 32:12 The challenge of finding all the right resources @ 37:10 The many unknowns of rare disease @ 41:03 Effie’s advice to other parents in similar situations @ 44:42 Links and Resources Find Effie on Twitter: @ArareCollection CTNNB1 Syndrome Awareness Worldwide Unique Rare Disease Foundation Kindering Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Ellen Matloff spent the first part of her career in Genetic Counseling at the Yale School of Medicine, where she served as the Director of the Cancer Genetic Counseling Program for 18 years. She was also one of the plaintiffs in the lawsuit against Myriad Genetics, the 2013 BRCA patent case that reached the United States Supreme Court and resulted in several patents related to human genetic testing being overturned. Four years ago, inspired by the rapidly evolving realities of the genetic testing marketplace and the need to provide insights from genetic counseling to patients in digital, scalable, efficient ways, Ellen founded My Gene Counsel. Story Reference Points: Ellen’s path to genetic counseling @ 2:15 Margie: Ellen’s first patient (BRCA1) as a new grad in 1996 @ 3:53 Change in attitudes toward genetic counseling and testing over the past two decades @ 9:49 Nate: A belated genetic diagnosis (GREM1) makes Cascade Testing possible for family members @13:03 Keeping up with evolving testing options @ 20:20 Changing protocols for pre- and post-test genetic counseling @ 22:18 Ellen’s change in perspective on genetic testing and direct-to-consumer genetic testing @ 26:32 My Gene Counsel offers digital, scalable genetic counseling insights with push notifications as new data becomes available @ 28:46 How Ellen sees the role of the Genetic Counselor continuing to evolve @ 35:51 The challenge of informed decision making with direct-to-consumer genetic testing @ 38:48 Need for tools to help patients and healthcare providers to understand genetic testing results @ 39:43 Need to innovate and diversify within the field of genetic counseling @ 43:08 What consumers should know about order genetic testing online @ 48:25 Links and Resources My Gene Counsel Ellen Matloff on Forbes My Gene Counsel blog post on Nate’s story: "Beyond BRCA: GREM1" Guest post on My Gene Counsel by Brianne Kirkpatrick: "Oprah Thinks You Should Buy a Genetic Testing Kit for Christmas … But What Does the Genetic Counselor Say?" Grey Genetics Blog Post: "What Can 23andMe Results Tell You About Your Breast Cancer Risk?" Historic NIH-Funded Research Genetic Testing Program All of Us Connect with My Gene Counsel on Social Media! On Twitter: @MyGeneCounsel On Instagram: @mygenecounsel On LinkedIn On Facebook Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast <

Some of our listeners have asked how they can help support Patient Stories. You can now donate to Patient Stories online! Looking for another way to support the show? Leave us a review on iTunes or share our episodes on social media! Grey Genetics on Twitter: @GreyGeneticsPod Grey Genetics on Instagram: @PatientStoriesPodcast We’ve also redesigned the Patient Stories Podcast page on the Grey Genetics website. There is now an individual link for each episode, making it easier to share specific episodes with friends and on social media. Check out the Patient Stories companion project, where many of you have shared your stories in written form. Thanks for listening!

Over 20 million people are estimated to have done an at-home genetic test, most focused around ancestry testing, and the numbers jump each holiday season. Brianne Kirkpatrick is a certified genetic counselor and the founder of Watershed DNA, which includes a private practice genetic counseling service for individuals who are considering direct-to-consumer testing as well as individuals who have been surprised by the results of their direct-to-consumer testing. In this interview, Brianne shares some of the surprises and family secrets her clients have stumbled across after direct-to-consumer testing and gives some advice as to what to consider before gifting a kit or doing one yourself. Story Reference Points: Brianne’s own family mystery “Where did Grandpa Ted go?” @ 3:00 Brianne founds Watershed DNA @ 6:34 Increase in DTC testing means more family secrets are revealed @ 11:12 Facebook support groups for those dealing with DNA Surprises @ 17:19 Brianne’s co-authored book in progress The DNA Guide for Adoptees. @ 19:46 Is a DNA test kit a good gift? @ 22:06 Two things most people don’t understand about DTC testing @ 24:40 Individuals share their #DNASurprise stories on Brianne’s site @ 28:50 Links and Resources Brianne’s company: Watershed DNA Brianne’s blog post: “DNA Testing: Considerations Before You Test” Brianne’s blog Watershed DNA Resources & DNA Surprise Stories Book an appointment with Brianne Connect with Brianne and Watershed DNA on Social Media Watershed DNA on Facebook Brianne on Twitter: @GCBrianne Brianne on LinkedIn Brianne is also newly on Instagram: @GC Brianne Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Kevin Alexander is a professional videographer. He also has an inherited metabolic condition, PKU (phenylketonuria). Thanks to Newborn Screening, Kevin was diagnosed with PKU just 9 days after birth and immediately put on dietary treatment. With a carefully monitored diet, Kevin has been able to live an otherwise normal life. In the 1960s, PKU was the first condition to be tested for as part of Newborn Screening. Newborn screening now includes up to 60 disorders, depending on the state, and can provide a timely and life-saving diagnosis for many infants. Through multiple video projects, Kevin has worked to raise awareness of PKU and of Newborn Screening more broadly. He is now also starting a podcast related to PKU! Watch for the first episode on PKU Awareness Day (December 3) and regular episodes starting in January. Interview Reference Points: What is PKU? Why is it diagnosed through Newborn Screening (NBS) and how is it treated?@ 1:40 Kevin’s diagnosis with PKU and ongoing management by metabolic team at Tulane @ 6:34 Feeling the difference of PKU @ 11:03 Living with PKU as an adult and the benefit of newer medications @ 14:54 In 2011, Kevin releases a short documentary My PKU Life and becomes more involved in PKU and NBS advocacy @ 16:44 Social Media as a tool for connecting with other people with PKU @ 18:48 Life with untreated PKU and the life that NBS has made possible - @ 20:06 Parents’ Privacy Concerns and Newborn Screening (NBS) @ 23:00 PKU support system on Facebook @ 27:46 The Medical Nutrition Equity Act @ 31:20 Meeting Katy and her family: a late PKU diagnosis @ 35:41 Links and Resources Kevin’s Facebook page Kevin’s short documentary My PKU Life Kevin’s documentaryFor Katy Kevin’s short documentary Kevin's YouTube Channel Kevin featured in a recent CRM Studios blog post National PKU Alliance More on Newborn Screening: Baby’s First Test More on the Medical Nutrition Equity Act Kevin's new podcast! PKU Life Podcast with Kevin Alexander PKU Life Podcast Facebook page PKU Life Podcast on Twitter@PKULifePodcast PKU Life Podcast on Instagram @pkulifepodcast Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. <a href=htt

At 43 years old, Elise Roth Tedeschi was diagnosed with Stage IV pancreatic cancer. She subsequently learned that she carried the same mutation in the BRCA2 gene that her sister Cari, a breast cancer survivor, had previously been found to carry. Elise also learned that this same BRCA2 mutation that had made her more susceptible to developing pancreatic cancer in the first place also increased her odds of survival. Seven years later, Elise’s status is NED (no evidence of disease). Her mutation status, her faith, her family, and especially her sister Cari helped her get there. Elise is involved with the Pancreatic Cancer Action Network, supporting other patients through a pancreatic cancer diagnosis, and is working on a book related to her own journey. Story Reference Points: Elise’s slow journey to a diagnosis of pancreatic cancer @ 2:33 Cari’s BRCA2 testing five years after her breast cancer diagnosis @ 6:44 Elise’s work and family life goes on amidst treatment for pancreatic cancer @ 11:45 Cari’s take on Elise’s treatment and on being her advocate @ 20:58 Elise’s decision not to have BRCA testing done earlier in life and how she sees it now @ 23:54 Cari on screening for pancreatic cancer within research protocols @ 26:21 PanCAN as a resource for patients with pancreatic cancer @ 28:31 Elise and Cari’s advice to patients dealing with a pancreatic cancer diagnosis: seek out an NCI-Designated Center; get a second opinion; have an advocate @ 34:43 PARP inhibitors as a new treatment option @ 38:20 Cari’s experience with genetic testing and counseling; testing for other family members @ 39:31 Cari and Elise on genetic testing for their children @ 41:15 Elise and Cari on how cancer drew their family even closer @ 45:36 Elise on receiving an outpouring of support from friends and community @ 47:20 Elise on receiving an outpouring of support from friends as well as strangers @ 47:20 Links and Resources All patients with pancreatic cancer (or a first- or second-degree relative with pancreatic cancer) meet NCCN criteria for genetic testing! Pancreatic Cancer Action Network Donate to Elise’s PurpleStride (5K Walk/Run) Team in Atlanta PanCAN on Twitter: @PanCAN PanCAN on Instagram: @PanCAN PanCAN on Facebook PanCAN on YouTube Find a clinical trial on the FORCE site Find an NCI-Designated Cancer Center Moffitt Cancer Center Moffitt on Twitter: @MoffittNews Related Grey Genetics blog posts: ”Is Pancreatic Cancer Hereditary?” ”All patients with pancreatic cancer now meet guidelines for hereditary cancer testing.” Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or sh

Darlena Cunha is a 36-year-old freelance writer and journalism professor at the University of Florida. When Darlena was in her early 30s, her mother, in her 50s with no personal history of breast cancer but a significant family history of cancer, sought out genetic testing and learned that she carried a mutation in the BRCA1 gene. Darlena learned that she carried the same mutation and began the journey of appointments with multiple specialists, discovering that while all would present her with options, no one would actually tell her what she should do. Story Reference Points: BRCA1 mutations and Darlena’s family history of cancer @ 1:30 Darlena’s mother tests positive for a BRCA1 mutation @ 5:20 Darlena and her sister’s single site genetic testing @ 6:45 Darlena’s experience with genetic counseling @ 9:46 Darlena’s experience with enhanced breast screening @ 12:09 Preventative mastectomy, recovery, and dealing with it all in the workplace @ 14:20 Prophylactic BSO looming @ 20:47 Impact of BRCA1 mutation on family planning @ 23:00 Impact on Darlena’s daughters @ 24:35 Need for more personalized risk assessments and recommendations @ 28:20 Links and Resources Reactions to Washington Post article@ 38:04 Barriers to genetic testing for other women, cost-effectiveness and insurance @ 41:00 Darlena on Twitter Darlena on LinkedIn Information on GINA (Genetic Information Non-Discrimination Act) Related pieces by Darlena: “I have the scary cancer mutation. When should I have my breasts removed?” Washington Post. March 18, 2018 “Breast Cancer and the Mom-God Fantasy” Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

At just 34 years old, Karla felt a lump that turned out to be breast cancer, first diagnosed as stage 2 and then as stage 3. Like many young women with breast cancer, Karla’s genetic testing results were negative, leaving her without an explanation for why she was diagnosed with an aggressive breast cancer at such a young age. Karla is an ambassador for the Cancer Treatment Centers of America and for the Stanford Cancer Institute Community Partnership Program, which aims to reduce breast cancer disparities among African American women. Story Reference Points: Writing her book and dealing with recurrence @ 2:35 Karla’s first referral to genetic counseling @ 8:40 Breast cancer in African American women @ 15:35 Karla’s long, slow path to initial diagnosis @ 22:00 Karla’s family history of cancer @ 28:15 Karla’s second referral to genetic counseling and the leaps in genetic testing @ 30:32 Karla’s perspective on breast cancer awareness and survivorship lingo @ 37:18 Breast cancer as more than one disease - with a wide range of prognoses @ 44:42 Karla’s care at CTCA and work as an ambassador for CTCA and the SCI Community Partnership Program @ 51:32 How the Affordable Care Act affected Karla personally and how insurance concerns continue to impact her life now @ 56:46 More on Karla’s book - which you can buy online! @ 1:02:30 Links and Resources Karla’s website Karla’s blog on Living! Buy a signed copy of Karla’s book! Karla on Twitter: @karlaliving Karla on Facebook Cancer Treatment Centers of America (CTCA) on Twitter: @CancerCenter Stanford Cancer Institute Community Partnership Program Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Jenn Perry grew up surrounded by cancer. She lost her mother to breast cancer, and she and her younger sister later also developed breast cancer. At age 42, she received a genetic diagnosis that explained the pattern of cancer in her family: Li-Fraumeni syndrome. In 2010, shortly after her diagnosis, Jenn attended the first Li-Fraumeni conference, which brought together both Li-Fraumeni patients and researchers. Today, Jenn is President and Co-Founder of the Li-Fraumeni Syndrome Association, which provides support services for patients while also raising funds for research. Story Reference Points: What is Li-Fraumeni syndrome? @ 1:56 Jenn’s path to a diagnosis of LFS and her experience with genetic counseling @ 2:54 Medical management of LFS, body awareness, and parenting children with LFS @ 13:37 The first LFS conference in 2010 and the founding of the Li-Fraumeni Syndrome Association @ 18:40 LFSA activities, resources and recent launch of Youth Programs @ 21:45 Jenn’s advice to those contemplating hereditary cancer testing @ 42:22 The Li-Fraumeni Syndrome Association LFSA on Twitter: @LFSAssociation LFSA on Facebook LFSA on LinkedIn Reach out to LFSA for support Donate to LFSA LFS on NORD Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

At just 13, Heather lost her mother to breast cancer. Fifteen years later, a mother herself, Heather had genetic testing done and learned that she carried a mutation in a BRCA gene. Heather shares her experience as a previvor--from genetic counseling to finding the right doctors to her continued involvement in the BRCA community and the many changes she’s witnessed since she was tested in 2005. Story Reference Points: Heather learns that she carries a BRCA1 mutation @ 1:20 Making major medical decisions and finding the right doctors @ 7:54 Heather’s children’s books @ 19:59 Heather remembers her mother @ 22:19 Heather’s surveillance today and memories of scanxiety @ 27:24 The Breast Advocate app @ 29:14 Life after an oophorectomy @ 31:30 Heather’s children’s and their BRCA risks @ 36:07 BRCA resources: then and now and the shift toward shared decision making @ 41:00 Heather’s advice to individuals considering genetic testing @ 43:35 Heather’s advice to individuals looking for the right doctors @ 45:08 Links and Resources My BRCA Story (Heather’s blog) Heather on Twitter: @expattravelmom Heather on Facebook Beyond The Pink Moon Facebook Group The Breast Advocate app Breast Reconstruction Resources: Terri Coutee on Twitter: @6state The Diep C Foundation The Diep C Journey Facebook Group Heather’s books on Amazon: Why is Mommy Having Surgery? She Looks OK to Me: For families with BRCA risk and undergoing prophylactic surgery and implant reconstruction This Much I Know Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Are you looking for genetic counseling? Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Mary Adeturinmo is a 25-year-old University graduate who studied Architecture. She also has Sickle Cell Disease. Due to health challenges, she has spent a lot of time in recovery as well as promoting and raising awareness for Sickle Cell Disease. She is part of the B Positive Choir which raises awareness about the importance of blood donations as well as Sickle Cell Disease. The B Positive Choir was a finalist on Britain's Got Talent which helped spread their message to a wider audience. Mary also has a YouTube channel where she speaks on different issues she faces with this genetically inherited condition. Story Reference Points: Growing up with Sickle Cell Disease @ 6:48 Living with Sickle Cell Disease at University outside of London @ 12:14 Living with Sickle Cell Disease and chronic pain as a young adult @ 20:32 Joining the B Positive Choir and encouraging blood donations @ 29:34 New Standards for Clinical Care of Adults with Sickle Cell Disease in the UK @ 38:16 The value of collaborative, empathic care @ 43:53 Social challenges of living with an invisible condition @ 47:58 Sickle Cell and Social Media @ 54:06 Knowing your carrier status and dating with Sickle Cell Disease @ 1:04 Links and Resources The B Positive Choir on Britain’s Got Talent! Mary on Instagram: @professionalpatient25 Mary on Twitter: @profeshpatient Mary’s YouTube Channel Red Cells R Us Facebook Group UK Resources: Sickle Cell Society NHS Blood Donation US Resources: Sickle Cell Disease Association of America Find a place to donate blood near you in the U.S.! Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Tawny Rother is 34 years old, recently engaged and a mom to three children. Two years ago, she lost her mother to ovarian cancer. Her mother carried a mutation in a gene called RAD51D, which increases the risk for ovarian cancer. Tawny learned she carried the same RAD51D mutation as her mother. Both of her grandmothers had also died of ovarian cancer. Determined to break the cycle, Tawny recently had her ovaries and fallopian tubes removed at age 34. She shares what her journey has been like and memories of her mother. Story Reference Points: Tawny mother’s diagnosis and testing @ 1:50 Tawny’s experience with telehealth genetic counseling and testing @ 3:55 Life after a bilateral salpingo-oophorectomy @ 10:34 On deciding when to have a BSO @ 18:27 Ovarian cancer awareness: seek a second opinion and genetic testing @ 20:01 CA-125 screening for ovarian cancer and affordability of genetic testing @ 38:31 Links and Resources Tawny on Instagram: @the_tawnyscrawny_lion and @tawnys_journey Ovarian Cancer Canada Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

As a new mother and young college student, Jennifer McNary noticed that her first son, Austin, wasn’t meeting his developmental milestones, but it wasn’t until he was 3 years old that Austin was diagnosed with Duchenne Muscular Dystrophy. The same diagnosis would follow for his younger brother, Max. Today, Jenn is the mother of four children as well as an advocate, public speaker and consultant in the rare disease space. Story Reference Points: What is Duchenne Muscular Dystrophy? @ 1:05 Austin’s diagnosis with Duchenne @ 3:10 Raising sons with Duchenne @ 7:32 Spotlight on Duchenne advocacy organizations @ 13:57 Jenn’s work as a consultant in the rare disease space @ 25:53 Links and Resources Jenn on Twitter Jenn on LinkedIn Beauhawks Foundation Little Hercules Foundation Parent Project Muscular Dystrophy Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Sophie Grace Holmes was born with Cystic Fibrosis (CF). When she was 19, a doctor told her she was going to die within a few years. She set out to prove him wrong, quitting her office job and organizing her life around health and fitness. Sophie is now 27 years old. She is a fitness model, a trainer, a massage therapist and a motivational speaker. She thrives on challenges, and her many accomplishments include completing a 100k and summiting Mt. Kilimanjaro and Mt. Blanc. Story Reference Points: What is Cystic Fibrosis? @ 1:49 Sophie's diagnosis with Cystic Fibrosis @ 3:15 Sophie's turning point at 19 @ 6:19 Sophie's recent climb of Mt. Blanc @ 14:36 Social Media and CF @ 19:35 Pioneering better treatment plans for CF with a focus on exercise and nutrition @ 22:54 Sophie's perspective on bringing a child with CF into the world @ 30:58 Sophie's perspective on life expectancy and plans for the future @ 33:35 Links and Resources Sophie on Instagram Sophie’s website Cystic Fibrosis Trust (U.K. org) The Cystic Fibrosis Foundation (U.S. org) Newborn Screening in the U.K. Newborn Screening in the U.S. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Charlotte Peinhardt was born with a cleft lip and cleft palate in a small town in Alabama in the 1980s. Her parents’ surprise in the delivery room was later followed by her own realization in elementary school that she looked different from other children. Charlotte shares her story of growing up with this difference even as she underwent numerous corrective surgeries that ultimately ended with an ideal cosmetic outcome. Charlotte is now a pediatric genetic counselor who specializes in craniofacial disorders, working first at Weill Cornell Medical College in New York City and now at Emory in Atlanta, Georgia. Story Reference Points: Charlotte’s birth story @ 3:17 Folic acid and CLCP @ 17:00 Growing up with CLCP @ 18:45 Luca’s birth story @ 29:10 Surgical Saga @ 35:22 Charlotte’s impromptu genetic testing @ 47:53 Charlotte Peinhardt on LinkedIn Links and Resources Cleft Advocate Smile Train The Cleft Lip and Cleft Palate Association Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Patient Stories is on summer break this week, so we don' t have a new episode to share with you. But we do want to tell you about a related project we’re working on.We're also sharing a few clips from past interviews with you. Keep the emails coming! Find some of our past interviewees on social media: Melanie on Twitter @mbreaul1 and on Instagram Nori on LinkedIn Colleen on Twitter @cmccready73 Rachelle on Twitter @RachelleM_Dixon and on LinkedIn

Genetic Counselor Christina Kresge talks about her most memorable cases from providing pediatric and adult genetic counseling services to an underserved population in and around Newark, NJ over the past eight years. She also shares her own recent experience as a patient going through her first pregnancy, grappling with the implications of a positive carrier testing result. Story Reference Points: Patient story #1: Myotonic Dystrophy @ 4:34 Patient story #2: Sialidosis @ 9:15 Patient story #3: A rare recessive condition and an unexpected finding on microarray @ 14:49 Patient story #4: Newborn Screening and Homocystinuria @ 22:49 Patient story #5: Christina’s own story with prenatal carrier testing @ 25:41 Links and Resources Information on Myotonic Dystrophy from the Muscular Dystrophy Association Facebook group for Sialidosis Information and Resources related to High ROH (Regions of Homozygosity) Newborn Screening Resource National Organization for Rare Diseases (NORD) Rare Advocacy Movement (RAM) Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Caroline Lieber was on a pre-med track in college in 1973 when she first heard about the new field of genetic counseling. Her career plans changed that day. Forty-five years later, after 18 years of clinical experience, 15 years as the Director of the Human Genetics Program at Sarah Lawrence College, and 5+ years working as a consultant for commercial genetic testing labs and newly minted Genetic Counseling programs, Patient Advocacy remains her passion. She shares the stories of patients that have stuck with her, whose strength and resiliency continue to inspire her. Patient story reference points: Patient story #1 @ 9:20 Patient story #2 @ 17:55 Caroline's own story with genetic testing @ 33:28 Links and Resources "A WILD RIDE: A Genetic Counselor Undergoes Genetic Testing" (https://www.nsgc.org/p/bl/et/blogaid=349) - Caroline's blog post on her experience with undergoing BRCA testing. May 13, 2015. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Rachelle Dixon shares her story of growing up around "the family disease," eventually diagnosed as HSAN1E--a rare, hereditary, degenerative neurological condition that claimed the lives of her mother and two of her siblings. Rachelle is the President and Co-Founder of the HSAN1E Society, an advocate for rare diseases, and a frequent speaker on caregiving for individuals with rare diseases. Links and Resources The HSAN1E Society NORD (National Organization of Rare Diseases) Global Genes Rare Advocacy Movement (RAM) Rare Advocacy Movement (RAM) HSAN1E Society on Facebook [email protected] Find Rachelle on Twitter @RachelleM_Dixon and on LinkedIn. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Colleen McCready shares her lifelong struggle with Familial Hypercholesterolemia, a condition that affects ~1/250 individuals yet is undiagnosed in an estimated 90% of those affected. She discusses how she was diagnosed, how FH has impacted her life, issues surrounding genetic discrimination, and her role as an Advocate with the FH Foundation. Links and Resources The Familial Hypercholesterolemia Foundation The Genetic Information Nondiscrimination Act (GINA) of 2008 GinaHelp.org Find the FH Foundation and Colleen on Twitter: @TheFHFoundation @cmccready73 Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

The first genetic counselor to work within a Medical Examiner’s Office, Nori Williams, MS, CGC talks about how she works with families after the loss of a loved one from Sudden Unexplained Death that turns out to have an underlying cardiogenetic cause. She shares stories of grief, resiliency and hope from families she has worked with, helping them to understand what their loved one’s genetic testing results mean for other family members. Patient story reference points: Patient story #1 @ 10:10 Patient story #2 @ 14:55 Resources: [email protected] CredibleMeds - Up-to-date list of drugs to avoid for people with LQT Sudden Arrhythmia Death Syndromes Foundation (SADS) Book a genetic counseling appointment with Nori! Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Melanie Breault discusses the impact Lynch syndrome has on her life and how it affects her views on women's health, disparities in healthcare, and patient care. Links and Resources AliveAndKickn FORCE Find Melanie on Twitter and Instagram: @mbreaul1 Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

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