A Long Diagnostic Odyssey to Ehlers-Danlos Syndrome

When Ushta was pregnant with her third child, she found herself being told which tests she would be having done—rather than being offered options and having them explained to her. As a genetic counselor working in reproductive genetics, she had also started fielding many questions from individuals looking for more insight and direction in a time of expanding prenatal testing options. These experiences led her to leave her role in industry and start her own company: FiND Genetics, an independent telemedicine genetics consulting practice. Ushta shares the path that led her to FiND Genetics, her perspective on recent changes within the field of genetic counseling, and how genetic counseling can empower patients to make informed decisions. Links and Resources FiND Genetics Genotypecast Interview with Katie Stoll: Prenatal Screening, False Positives, and NYT's Coverage Connect with Ushta on Social Media Ushta and FiND Genetics on Instagram: @findgenetics Ushta on LinkedIn --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message

Eleanor first interviewed Heather in 2018. At that time, Heather was several years out from completing a prophylactic mastectomy and oophorectomy related to her BRCA1 mutation and was living in Singapore. Her children were ages 10, 12, and 13. Heather shared her story of losing her mother to BRCA1-related breast cancer when she was only 13 and her determination to learn her risks and take all the steps she could to be there for her children. Today, Heather is living in Spain and her children are 15, 17, and 19. When I reached out to Heather about a follow-up Next Chapter interview, they had all just mailed their DNA to 23andMe for testing. Resources Listen to Heather’s 2018 interview with Patient Stories My BRCA Story (Heather’s blog) 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 Connect with Heather on Social Media Heather on IG: @expattravelmom @my_brca_story @learnwithheatherb 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

As a teenager, Devin experienced what she now describes as mito crashes and thought it was just a normal part of being a teenager. Her older brother led the way to a shared diagnosis of an autosomal recessive mitochondrial disease: mitochondrial DNA depletion syndrome. Devin’s diagnosis came as she was beginning to develop an identity as an adult. In college, she found community, support and activism among other disabled students and started identifying as Disabled. Today, as a genetic counselor, she brings her perspective and activism to the subjects of eugenics, disability, and inclusion: “If you’re not uncomfortable, you’re not growing.” Related Resources Mitochondrial Medicine Society: resources  Mitochondrial Disease Care Network United Mitochondrial Disease Foundation: Teen and Young Adult Virtual Meet-Up Ages 16-35 (weekly) Stella Young Ted Talk “'I’m not your inspiration, thank you very much” Devin on Mito Genetics 101 Devin on Mito Genetics 102 Devin’s Ted-Ed talk (No, she didn’t choose the title. And it doesn’t make sense!)  Connect with Devin Devin on Twitter: @DevinShuman Request an appointment with Devin through the Genetics Support Foundation Wish you could chat with Devin about mitochondrial disease? Every 4th Wednesday of the month, she hosts an hour-long session through Mito Action. 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

Eleanor first interviewed Melanie in 2018. She was 29 years old at the time and had received a diagnosis of Lynch syndrome just before turning 25. Melanie shared her experience with receiving a diagnosis, recommended screenings and related challenges with health insurance coverage, and how Lynch impacted her experience with dating and thinking about having her own family one day. Today, Melanie is 35, recently married, and 28 weeks pregnant! In Next Chapter interviews, we check back in with previous guests on Patient Stories to see how their stories have continued to unfold.  Related Resources FORCE (Facing Our Risk Empowered) AliveAndKickin Connect with Melanie on Social Media Melanie on Twitter: @melaniebkursun Melanie on Instagram: @melaniebkursun 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

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

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. Related 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