Patient Stories is taking a hiatus…. Second Season to come in July!

Patient Stories with Grey Genetics

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Understanding the Elegant Math Behind Modern Machine Learning 1:14:43

vor 11 Tagen1:14:43

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1:14:43

Artificial intelligence is evolving at an unprecedented pace—what does that mean for the future of technology, venture capital, business, and even our understanding of ourselves? Award-winning journalist and writer Anil Ananthaswamy joins us for our latest episode to discuss his latest book Why Machines Learn: The Elegant Math Behind Modern AI . Anil helps us explore the journey and many breakthroughs that have propelled machine learning from simple perceptrons to the sophisticated algorithms shaping today’s AI revolution, powering GPT and other models. The discussion aims to demystify some of the underlying mathematical concepts that power modern machine learning, to help everyone grasp this technology impacting our lives–even if your last math class was in high school. Anil walks us through the power of scaling laws, the shift from training to inference optimization, and the debate among AI’s pioneers about the road to AGI—should we be concerned, or are we still missing key pieces of the puzzle? The conversation also delves into AI’s philosophical implications—could understanding how machines learn help us better understand ourselves? And what challenges remain before AI systems can truly operate with agency? If you enjoy this episode, please subscribe and leave us a review on your favorite podcast platform. Sign up for our newsletter at techsurgepodcast.com for exclusive insights and updates on upcoming TechSurge Live Summits. Links: Read Why Machines Learn, Anil’s latest book on the math behind AI https://www.amazon.com/Why-Machines-Learn-Elegant-Behind/dp/0593185749 Learn more about Anil Ananthaswamy’s work and writing https://anilananthaswamy.com/ Watch Anil Ananthaswamy’s TED Talk on AI and intelligence https://www.ted.com/speakers/anil_ananthaswamy Discover the MIT Knight Science Journalism Fellowship that shaped Anil’s AI research https://ksj.mit.edu/ Understand the Perceptron, the foundation of neural networks https://en.wikipedia.org/wiki/Perceptron Read about the Perceptron Convergence Theorem and its significance https://www.nature.com/articles/323533a0…

vor 5 Jahren 1:21

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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.

94 Episoden

#Fitness #Medicine #Grey Genetics

Patient Stories is taking a hiatus…. Second Season to come in July!

Patient Stories with Grey Genetics

published vor 5 Jahren

MP3•Episode-Home

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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

94 Episoden

#Fitness #Medicine #Grey Genetics

Alle Folgen

1
GRIN2B: An Odyssey from Diagnosis to Evacuation 29:43

vor 41 weeks29:43

29:43

Nadia Billous is a mother of two young sons, including 9-year-old Andryusha who was diagnosed with GRIN2B-related neurodevelopmental disorder. Nadia and her family are Ukrainian and lived in Kyiv at the time of Andryusha’s birth. At first, he was a typical, healthy baby but began to have some alarming symptoms around 3 months of age which led to a 7 year odyssey to identify this rare diagnosis. Andryusha was receiving therapies and interventions to help him gain strength and prove his quality of life which were abruptly impacted by the war in Ukraine. In this episode, Nadia talks about her life as a parent of a child with GRIN2B, the remarkable support her family received from the GRIN2B Foundation and rare disease community. Nadia was interviewed by guest host Kristina Inman, a second year genetic counseling student. An interpreter assisted with this interview. Related Resources CureGRIN Grin2B Foundation Donate to help support Nadezheda & her family Read Nadia’s story here 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 .…

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Defying Cystic Fibrosis One Mountain at a Time [Rebroadcast] 36:15

vor 46 weeks36:15

36:15

This episode was originally published in August 2018. Last Sunday, Sophie ran the London Marathon—her first of 36 marathons she plans to run in 36 days, as she raises money for Cystic Fibrosis Trust . You can follow Sophie's progress on Instagram @sophiegraceholmes Sophie Grace Holmes was born with Classic 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. 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 . 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 .…

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Navigating Genetic Testing in Pregnancy & the Path to FiND Genetics 52:02

vor 48 weeks52:02

52:02

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 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 .…

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Next Chapter: Losing My Mother, Previving For My Children 55:58

vor 50 weeks55:58

55:58

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 .…

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Red Herrings, the Diagnostic Purgatory & Mitochondrial Disease 1:12:28

vor 52 weeks1:12:28

1:12:28

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 .…

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Next Chapter: Living with Lynch Syndrome 46:47

vor 1 year46:47

46:47

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 .…

1
A Later Abortion Story 1:31:26

vor 1 year1:31:26

1:31:26

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 .…

1
A Late Diagnosis of Cutis Laxa and the Creation of ThinkGenetics 38:07

vor 1 year38:07

38:07

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 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 .…

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Next Chapter: A Career in Genetic Counseling 20:20

vor 1 year20:20

20:20

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 .…

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Hypermobile Ehlers-Danlos Syndrome: An Invisible Condition 25:50

vor 1 year25:50

25:50

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 .…

1
A Waiting Game & Another Diagnosis 1:08:54

vor 1 year1:08:54

1:08:54

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 .…

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Breaking Taboos & Leaving Room for Grief 1:11:01

vor 1 year1:11:01

1:11:01

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 .…

1
Navigating the Uncertainty of a BRCA Mutation 38:39

vor 1 year38:39

38:39

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 .…

1
Bardet-Biedl Syndrome and the Value of a Diagnosis 42:37

vor 1 year42:37

42:37

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 .…

1
Coming Soon: Patient Stories, Season 3 2:18

vor 1 year2:18

2:18

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…

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Patient Stories with Grey Genetics « » Patient Stories is taking a hiatus…. Second Season to come in July!

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Patient Stories with Grey Genetics « »
Patient Stories is taking a hiatus…. Second Season to come in July!