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Patient Stories with Grey Genetics
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Patient Stories with Grey Genetics

Author: Grey Genetics

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Genetics isn’t always black and white. And the emotions and decisions surrounding genetic testing can be even more complex. Hosted by genetic counselor Eleanor Griffith, the show brings you the personal experiences of patients and genetic counselors.
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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 Grey Genetics is no longer active on social media.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
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
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
While Carlos was studying Biology in the U.S., his father was diagnosed with Philadelphia Chromosome positive Acute Lymphocytic Leukemia (Ph+ALL) in Mexico. The same condition which he’d just learned about in school and had captured his intellectual curiosity was also now very personal. Carlos shares how genetic testing opened up options for his father’s course of treatment but also introduced myriad decisions to be made about his father’s care, the burden of which fell almost entirely upon his mother. He discusses how he thinks a genetic counselor could have helped the family through these many decisions and also shares his perspective on the importance of end of life 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. 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 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
A Roll of the Dice

A Roll of the Dice

2021-03-1641:20

A couple gets engaged. They are both of Ashkenazi Jewish ancestry and read that carrier testing is recommended. They rightly assume that the most likely outcome is that they will not be carriers for the same condition. The results are a shock: Both are carriers for Mucolipidosis Type IV. They know they will use this information to inform their family planning decisions, but for years they vacillate between the expensive and involved option of IVF with preimplantation genetic diagnosis (PGD) or rolling the dice: trying to get pregnant naturally and pursuing prenatal testing, with the knowledge that a positive result for them would mean an abortion. Related Resources The Norton & Elaine Sarnoff Center for Jewish Genetics Mucolipidosis Type IV Foundation 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. 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. --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
When Layla was pregnant, she knew there was a 1 in 4 chance that her child would have Sickle Cell Disease. Routine newborn screening was done in London when Suki was 5 days old. She would be notified soon if her daughter Suki had Sickle Cell Disease, or even if she was a carrier and had Sickle Cell Trait. Like other parents, Layla was told that no news was good news. She was relieved. Then, when Suki was a month old, there was a knock at the door: Layla was told that Suki did have Sickle Cell Disease. She was handed pamphlets and told that Suki would have an appointment at the hospital when she was 3 months old. Layla shares how their world changed and what her experience with motherhood has been like. She also shares how racism has impacted Suki’s care, specifically during Covid-19, when Suki received care at a different hospital from where she is normally cared for by a dedicated team. Links and Resources Follow Suki on Instagram: @suki_lawson Follow Layla on Instagram: @layls.x Sickle Cell Society (UK) Sickle Cell Disease Association of America Addressing Health Disparities in Sickle Cell Disease. Interview with Barbara W. Harrison, MS, CGC. December 15, 2020. Genotypecast Podcast. Listen to another interview with a young woman who has sickle cell disease: Invisible and Unpredictable. Interview with Mary Adenturinmo. September 25, 2018.  Patient Stories Podcast. 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. 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 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
Far Away with Fabry

Far Away with Fabry

2021-02-1626:53

Munique had suffered from pain since she was 4 years old, but it wasn’t until she was 15 years old that she finally received a diagnosis that explained why: Fabry Disease. After seeing multiple doctors, she, her father, and multiple other family members were finally diagnosed with Fabry Disease at the same time. In Brazil, treatment for Fabry was difficult as having a preexisting condition prevented her from getting health insurance. Although Brazil also has public universal healthcare, Fabry Disease was not recognized as a disease, meaning that a court battle was necessary to obtain coverage for treatment and specifically for the Enzyme Replacement Therapy (ERT) required to treat Fabry. Munique and other family members did successfully work with a lawyer to receive ERT. But the medication would then be periodically cut-off, requiring repeated returns to the courts for each interruption in treatment. After 10 years of struggling to receive care and after losing her father to Fabry when he was only 46 years old, Munique moved to the U.S., where her husband has family connections and where she now receives consistent ERT as well as care from the multiple specialists needed to care for people with Fabry Disease. Munique shares the challenges of finding a diagnosis, how Enzyme Replacement Therapy has improved her life, and how the symptoms of Fabry Disease have made it that much harder to adjust to life in a new country and to make friends. Links and Resources National Fabry Disease Foundation Munique’s Facebook page: https://www.facebook.com/ladyfabry Follow Munique on Instagram: @unic42 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. 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 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
Silvia’s son Nicky was born with a devastating condition called Epidermolysis Bullosa (EB). On her websites and in her books, she describes his skin as fragile as a butterfly’s wing which can blister at the slightest touch, causing pain and scarring and leading to disfigurement and disability. Today Nicky is 24 years old. Silvia shares how her perspective on Nicky’s diagnosis was shaped by her previous experience of delivering a stillborn son at full term. She tells her story of caring for and advocating for a child with a rare disease, building a supportive community online in the early days of the internet, and recent efforts that give her more hope for the needed cure for EB. Links and Resources EB Info World Silvia’s blog Butterfly Talk: Silvia’s YouTube channel where she talks with other moms about coping and celebrating their kids with EB Books by Silvia Corradin: Butterfly Child: A Mother’s Journey: Silvia’s book about Nicky, his life with EB, and her journey as his mother Living With Epidermolysis Bullosa: A compilation of stories written by families touched by EB Losing Alex: The Night I Held An Angel: Silvia’s story of her experience with her first son Alex, who was stillborn at full term. Special Mommy Chronicles: A compilation of columns written by Silvia, offering insights, stories and struggles that go along with raising special kids. 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. 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. --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
As a junior in high school, Mikaela played varsity softball. When her performance started to decline and she wasn’t feeling well, she was initially told she likely had an ear infection. The second doctor she saw ordered a brain MRI to rule out a possible brain tumor. The third doctor she saw ordered a full body scan to rule out the possibility of additional tumors. Within a few weeks, she’d had multiple surgeries to remove tumors in her brain, neck, and spine and had a diagnosis of Von Hippel-Lindau syndrome. Mikaela shares how her diagnosis, multiple surgeries, and resulting chronic pain and nerve damage have impacted her life, first as a teenager and now as a young adult and how she is learning to balance living with a rare disease without letting it limit her. Links and Resources VHL Alliance Aware of Angels Miracle’s for Mickey (Mikaela's Blog) Follow Mikaela on Instagram: @MikaelaGage7 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. 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. Collect and share your family history through the FamGenix app. --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
At her 20 week ultrasound, Chelsea learned of a likely diagnosis of Trisomy 18. Her Non-Invasive Prenatal Screening (NIPS) results then also came back positive for Trisomy 18. Chelsea and her husband Doug felt tremendous pressure from the genetic counselor and many doctors involved in her care to pursue amniocentesis. Chelsea and her husband sought out more information about the diagnosis on their own (with the help of #Trisomy18) and eventually made the decision to move from their home in Louisville, KY in order to receive prenatal and postnatal care from a supportive care team in Cincinnati. Chelsea’s daughter Stella had a better prognosis than many children with Trisomy 18 yet still lived just 39 days. Chelsea and her family treasured their time with her and still love seeing The Stella Effect—how Stella has impacted so many lives. They have recently set up a nonprofit in this name. Links and Resources Follow The Stella Effect on Social Media Instagram: @TheStellaEffect Facebook: @TheStellaEffect SOFT - Support Organization For Trisomy 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. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page. Collect and share your family history through the FamGenix app. 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. --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
Brianne Kirkpatrick returns to the podcast to give us an update  on changes in direct-to-consumer (DTC) and ancestry genetic testing over the past two years. Some of the biggest changes: a greater awareness of privacy concerns and more resources and support for those affected by unexpected DNA discoveries. Brianne Kirkpatrick is a licensed and certified genetic counselor and the founder of Watershed DNA. She provides online group and 1 to 1 support for individuals affected by unexpected DNA discoveries. Brianne is a co-author of The DNA Guide for Adoptees and is currently working on her second book, one for individuals involved in surprise DNA family discoveries. Related Resources Listen to the Dec 2018 interview with Brianne: “To Gift or Not to Gift that At-Home DNA Testing Kit?” Find support through Watershed DNA The Watershed DNA Mighty Network Book an appointment with Brianne Brianne’s blog Watershed DNA Resources & DNA Surprise Stories Follow Brianne on Social Media Brianne on Twitter: @GCBrianne Brianne on Instagram: @GCBrianne  Brianne on LinkedIn Other NPE Support Resources  NPE Friends Right To Know npecounseling.org 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. --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
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Comments (2)

NPE Alicia

Love this Podcast! It is very professionally done and extremely informative.

Nov 14th
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