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 ⁠podcast@greygenetics.com⁠ ⁠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

Dave and one of his younger sisters were both born with heart defects that required surgery. When Dave was 60, he was diagnosed with an aortic aneurysm. By this time, he had a daughter, Dawn Laney, who was a genetic counselor and professor at the Emory School of Medicine. With Dawn’s help, Dave finally arrived at a diagnosis of Cutis Laxa for both himself and his sister. Motivated to help patients receive a diagnosis faster, Dave leveraged his decades long career working with technology in healthcare and Dawn’s expertise in genetic counseling to co-found ThinkGenetic, Inc. and the ThinkGenetic Foundation.  Related Resources ThinkGenetic.com ThinkGenetic Foundation --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message

Eleanor first interviewed Abigail in 2019 when she was still a second year genetic counseling student. Abigail shared the story of her diagnosis of Wilson Disease and how it led her to a career in genetic counseling. She has now been a genetic counselor for over four years. Second year genetic counseling student Kelsey Crocker interviewed Abigail for the first of the Patient Stories Next Chapter interviews, where we check back in with previous guests on Patient Stories to hear how their stories have continued to unfold. Links and Resources Listen to Abigail’s original interview for Patient Stories: “Wilson Disease: When Early Diagnosis Makes All the Difference!” Wilson Disease Association Connect with the Wilson Disease Association on Social Media: Wilson Disease Association on Twitter: @wilsondisease Wilson Disease Association on Facebook Send Abigail an email! 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

Alexandra Parker is a senior student at Sarah Lawrence College. Alex describes her journey to a diagnosis of Hypermobile Ehlers-Danlos Syndrome and the skepticism that she faced from medical professionals. She had to adjust emotionally and physically following her diagnosis with respect to sports. Self-advocacy has become an important part of Alex’s day to day. She discusses the importance of “being believed” in a medical setting and encourages others to seek out different medical professional expertise when needed. Alex was interviewed by guest host Kelsey Crocker, a second year genetic counseling student. Links and Resources The Ehlers-Danlos Society 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

After losing her first son Alex at only 10 months of age to a rare genetic condition, Jill and her husband went on to have four more children. Jill’s youngest daughter, Katie, was always small from birth. By the time she was 15 months old, it was obvious that Katie’s growth was significantly delayed. By age 2, she had started on human growth hormone. At the time that we recorded this interview in 2021, Katie was 5 years old and had a suspected diagnosis of Russell Silver syndrome. Katie has since had genetic testing done and has been diagnosed with 22q Deletion syndrome. Jill shares how her experience with Alex meant that with each of her children, she felt like she was waiting for the other shoe to drop. She also discusses how her experience with Alex prepared her to be an excellent advocate for Katie. Links and Resources The Magic Foundation  To hear part one of Jill's story about her first child, Alex, listen to the last episode: Breaking Taboos & Leaving Room for Grief 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

At 20 weeks of pregnancy, Jill learned that her son Alex had a diaphragmatic hernia. And a ventricular septal defect. An amniocentesis revealed a rare diagnosis of Mosaic Trisomy 5: some of her son’s cells had a typical number of chromosomes (46,XY) and some had an extra copy of chromosome #5. Jill shares a detailed account of her prenatal and neonatal journey, including the diagnosis of additional birth defects and complications and the lack of available information or anticipatory guidance for parents who know they will have a child in the NICU. Alex died when he was 10 months old.  Jill explores the taboo around acknowledging parental exhaustion and burnout as well as the taboos surrounding talking about children who have died—which has the effect of isolating a grieving parent. She shares the importance of leaving room for grief and allowing people to talk about loved ones they have lost. 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

When Marleah was 8 years old, her mother was diagnosed with breast cancer. When Marleah was in college, her mother had genetic testing done and learned that she carried a mutation in the BRCA2 gene. This finding explained the breast cancer in Marleah’s family and inspired Marleah’s career as a university professor, focused on communication and decision making surrounding hereditary cancer risk. Marleah met with a genetic counselor when she was in her PhD program but chose to wait until she was 25 before she had genetic testing done and learned that she also carried a BRCA2 mutation. Marleah shares her own journey as a previvor and discusses her ongoing work in the field. Links and Resources Cancer Communication Research  Marleah’s Tedx Talk: How to Make Decisions Based on Uncertain Information Marleah as part of the CDC’s Bring Your Brave Campaign Marleah’s campaign video for the CDC Dean M,  et al. “Shared Decision-Making Experiences of Couples with Inherited Cancer Risk Regarding Family Building.” J Health Commun. 2023 May 4;28(5):292-301.  https://www.facingourrisk.org/BOAST/ Facing Our Risk of Cancer Empowered Connect with Marleah on Social Media Marleah on Twitter @marleahdeank Marleah on LinkedIn  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

Molly sensed that something was different with her son Joshua starting shortly after birth: he was a very fussy baby; his growth was off the charts. By 10-12 months, Molly had the full attention of her pediatrician; Josh was clearly not meeting milestones. She then spent over five years focused on finding a diagnosis. Their diagnostic odyssey included meeting with five geneticists before they finally traveled out of state for a full clinical trial just after the Covid-19 Pandemic hit. Just before his 6th birthday, Josh was diagnosed with Bardet-Biedl syndrome (BBS). Molly shares how she had to learn to respond to people’s comments about Joshua’s obesity as well as generic recommendations from uninformed healthcare providers about diet and exercise. For them, the pandemic offered a temporary refuge from the judgements of society and the stigma associated with obesity. She also shares how Josh's diagnosis has influenced his medical care and given her a new and powerful tool to respond to comments related to obesity. Links and Resources  https://msha.ke/mollyedangelo/ Bardet Biedl Syndrome Foundation   Lead For Rare Obesity Connect with Molly on Social Media: Molly on Instagram Molly on Facebook Molly on Twitter 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

Patient Stories is finally coming back with a new season. Do you want to share your story? Email us at podcast@greygenetics.com. You will be interviewed by Eleanor, a genetic counseling student, or..... you could also be interviewed by a loved one and send us the audio to publish in our feed. We can share some resources to help you with this! (Interview guides, amateur recording tips, etc.) Just email us to let us know you're interested! This new option we're piloting was inspired by NPR's StoryCorps. Are you an aspiring genetic counselor? Consider ⁠joining the Patient Stories Club⁠⁠. ⁠Check out past Patient Stories podcast episodes.⁠ Read Patient Stories on the ⁠Grey Genetics Patient Stories Page⁠ 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. Subscribe to the Grey Genetics mailing list⁠ --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message

Patient Stories is taking a hiatus. We plan to be back in the fall with a third season. We would love to better understand our audience. If you could take 1 minute to fill out this survey, we would appreciate it! Check out past Patient Stories podcast episodes. Read Patient Stories on the Grey Genetics Patient Stories Page 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. --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message