Podcasts about disease hd

In this episode of It Happened To Me, hosts Cathy and Beth are joined by Tanita Allen, a resilient advocate for Huntington's Disease (HD) and the author of the touching memoir, We Exist. Tanita shares her personal journey with HD, from her initial symptoms and challenging diagnostic process to her current role as a self-advocate and member of The HD Community Advisory Board.   Tanita discusses the complexities of living with HD, a condition often described as a combination of Parkinson's, ALS, and Alzheimer's. She offers insight into the importance of genetic testing, the impact of environmental factors on her early onset, and the emotional journey of being the first in her family to be diagnosed with this rare genetic condition. Additionally, Tanita shares her five key strategies for maintaining a hopeful disposition in the face of medical challenges.   Tanita Allen is a dedicated advocate for Huntington's Disease and the author of *We Exist*, a memoir documenting her journey with HD. She holds a Bachelor of Arts in Public Affairs and is a certified paralegal. Tanita's advocacy work is enriched by her extensive experience in customer service and sales. She is a member of The HD Community Advisory Board and has been featured in Forbes, where she discussed the significance of self-advocacy and collaboration.   Key Discussion Points:   Understanding Huntington's Disease (HD): Tanita describes HD as a trifecta of Parkinson's, ALS, and Alzheimer's. She shares her experiences with the hallmark symptoms and discusses the prevalence of HD in the population. Diagnostic Journey: Tanita opens up about the challenges she faced in receiving a diagnosis, particularly the added complexity of being a Black woman. She details her experience with genetic testing, including the significance of CAG repeats in the HTT gene and how her results correlated with her early onset of symptoms. Emotional Impact and Family Dynamics: Tanita reflects on how she processed her diagnosis and the emotional toll it took, especially as the first person in her family to be diagnosed with HD. She also shares the story of another family member who was later diagnosed. Five Strategies for Hope: Tanita outlines the five key strategies she discusses in her book for maintaining a hopeful outlook:Embracing Change and Adapting Learning from Difficult Moments The Power of Community Celebrating Milestones Making Self-Care a Priority Advice for Others: Tanita offers parting advice for those facing medical challenges, emphasizing the importance of self-care, community support, and staying hopeful. Please check out Tanita's book, “We Exist”. You can order a copy directly from her website, tanitaallen.com. Also check out her Forbes article, “Why Self-Advocacy Can Help You Become An Invaluable Collaborator”.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

Check out our free downloads at nascentmc.com: Implementing AMA Style – 8 Things to Get Right in Your Next Project Needs Assessments – 7 Essentials for Getting Funded Working With Your Medical Writer – 8 Ways to Get the Most out of Them See the full write ups for today's episodes at nascentmc.com/podcast ·      Elrexfio (elranatamab-bcmm) has received accelerated approval for the treatment of adult patients with relapsed or refractory multiple myeloma who have undergone multiple prior therapies. Elrexfio is a subcutaneously delivered bispecific antibody (BsAb) immunotherapy activating T-cells to kill myeloma cells. Approval is contingent upon verification of clinical benefit in further trials. The approval was granted to Pfizer. Elrexfio joins other bispecific antibody therapies from Janssen for the same condition. ·      The FDA has approved the Hepzato Kit for delivering melphalan to the liver as a treatment for metastatic uveal melanoma (mUM) with unresectable hepatic metastases. This is the only liver-directed therapy approved for this purpose. Approval was based on the FOCUS Study (NCT02678572). The manufacturer, Delcath Systems, intends to explore broader applications beyond uveal melanoma due to the therapy's potential for other tumor types. ·      A higher-dose version of Eylea (aflibercept) injection has been FDA-approved for treating wet age-related macular degeneration (wAMD), diabetic macular edema (DME), and diabetic retinopathy (DR). This approval is based on PULSAR and PHOTON pivotal trials demonstrating non-inferior vision gains at longer dosing intervals compared to the standard dose. Eylea is a VEGF inhibitor, approved for wet AMD in 2011. The approval was granted to Regeneron Pharmaceuticals. ·      Ingrezza (valbenazine) capsules have gained FDA approval for treating chorea associated with Huntington's Disease (HD). The approval is supported by clinical studies and was granted to Neurocrine Biosciences. Ingrezza was previously approved for tardive dyskinesia. ·      The FDA has approved Sohonos (palovarotene) to treat fibrodysplasia ossificans progressive (FOP), a rare bone disease causing heterotopic ossification. The approval is based on Phase 3 MOVE trial results, showing effective reduction in bone growth. Sohonos is selective for a subtype of retinoic-acid receptors. It received Orphan Drug and Breakthrough Therapy Designations and is manufactured by Ipsen. ·      Veopoz (pozelimab-bbfg) has gained FDA approval as the first treatment for CD55-deficient protein-losing enteropathy (CHAPLE disease). CHAPLE disease is a rare inherited immune disorder causing complement hyperactivation. Veopoz is a complement inhibitor indicated for patients aged 1 year and older. It received multiple designations and was granted approval to Regeneron Pharmaceuticals. Intro and outro music Garden Of Love by Pk jazz Collective Let us know if we can help with any medical writing!  

This week the fellas sit down with their pal Erin Paterson. Erin is an author and speaker and at age 32 she tested gene positive for Huntington's Disease (HD). Shortly after she started suffering from depression, then received more crushing news: she was infertile. Despite those diagnoses, she was determined to have a family and live a joyful life. She is on a mission to positively impact other people's lives by writing and speaking about genetic disease, depression, and infertility. She shows that it is possible to live a meaningful life even when faced with unexpected obstacles. She is the author of All Good Things: A Memoir About Genetic Testing, Infertility and One Woman's Relentless Search for Happiness. Join the post-episode conversation over on Discord! https://discord.gg/expeUDN

This week the fellas sit down with their pal Erin Paterson. Erin is an author and speaker and at age 32 she tested gene positive for Huntington's Disease (HD). Shortly after she started suffering from depression, then received more crushing news: she was infertile. Despite those diagnoses, she was determined to have a family and live a joyful life. She is on a mission to positively impact other people's lives by writing and speaking about genetic disease, depression, and infertility. She shows that it is possible to live a meaningful life even when faced with unexpected obstacles. She is the author of All Good Things: A Memoir About Genetic Testing, Infertility and One Woman's Relentless Search for Happiness. Join the post-episode conversation over on Discord! https://discord.gg/expeUDN

Seth Rotberg is a patient advocate, community connector, and motivational speaker. His passion is driven by his mother's 17-year battle with the rare, genetic disease known as Huntington's Disease (HD). Through his 13 years of experience navigating the healthcare system, he's worked with different healthcare stakeholders including: patient advocacy organizations, patient influencers, pharma/biotech, genetic counselors, and healthcare recruitment companies. Seth has a master's in nonprofit management from DePaul and currently resides in Chicago. Watch his TEDx here: https://www.youtube.com/watch?v=5_O5TfMVqD8 and follow him on Instagram here: https://www.instagram.com/srotberg15/

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.09.19.508617v1?rss=1 Authors: Yang, S. J., Del Bonis-O'Donnell, J. T., Giordani, F. A., Wang, J. W.-T., Lui, A., Piekarski, D., Irrinki, A., Schaffer, D., Landry, M. P. Abstract: Dopamine neuromodulation is a critical process that facilitates learning, motivation, and motor control. Disruption of these processes has been implicated in several neurological and psychiatric disorders including Huntington's Disease (HD). While several treatments for physical and psychiatric HD symptoms target dopaminergic neuromodulation, the mechanism by which dopaminergic dysfunction occurs during HD is unknown. This is partly due to limited capability to visualize dopamine dynamics at the spatiotemporal resolution of both neuromodulator release (ms) and dopaminergic boutons (m). Here we employ near-infrared fluorescent catecholamine nanosensors (nIRCats) to image dopamine release within the brain striatum of R6/2 Huntington's Disease Model (R6/2) mice. We find that stimulated dorsal striatal dopamine release decreases with progressive motor degeneration and that these decreases are primarily driven by a decrease in the number of dopamine hotspots combined with decreased release intensity and decreased release fidelity. Using nIRCat's high spatial resolution, we show that dopamine hotspots in late HD show increased ability to add new dopamine hotspots at high extracellular calcium concentrations and track individual dopamine hotspots over repeated stimulations and pharmacological wash to measure dopamine hotspots release fidelity. Compellingly, we demonstrate that antagonism of D2-autoreceptors using Sulpiride and direct blocking of Kv1.2 channels using 4-Aminopyradine (4-AP) increases the fidelity of dopamine hotspot activity in WT striatum but not in late HD striatum, indicating that D2-autoreceptor regulation of dopamine release through Kv1.2 channels is compromised in late HD. These findings, enabled by nIRCats, provide a more detailed look into how dopamine release is disrupted and dysregulated during Huntington's Disease to alter the coverage of dopamine modulation across the dorsal striatum. Copy rights belong to original authors. Visit the link for more info Podcast created by PaperPlayer

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.09.19.508617v1?rss=1 Authors: Yang, S. J., Del Bonis-O'Donnell, J. T., Giordani, F. A., Wang, J. W.-T., Lui, A., Piekarski, D., Irrinki, A., Schaffer, D., Landry, M. P. Abstract: Dopamine neuromodulation is a critical process that facilitates learning, motivation, and motor control. Disruption of these processes has been implicated in several neurological and psychiatric disorders including Huntington's Disease (HD). While several treatments for physical and psychiatric HD symptoms target dopaminergic neuromodulation, the mechanism by which dopaminergic dysfunction occurs during HD is unknown. This is partly due to limited capability to visualize dopamine dynamics at the spatiotemporal resolution of both neuromodulator release (ms) and dopaminergic boutons (m). Here we employ near-infrared fluorescent catecholamine nanosensors (nIRCats) to image dopamine release within the brain striatum of R6/2 Huntington's Disease Model (R6/2) mice. We find that stimulated dorsal striatal dopamine release decreases with progressive motor degeneration and that these decreases are primarily driven by a decrease in the number of dopamine hotspots combined with decreased release intensity and decreased release fidelity. Using nIRCat's high spatial resolution, we show that dopamine hotspots in late HD show increased ability to add new dopamine hotspots at high extracellular calcium concentrations and track individual dopamine hotspots over repeated stimulations and pharmacological wash to measure dopamine hotspots release fidelity. Compellingly, we demonstrate that antagonism of D2-autoreceptors using Sulpiride and direct blocking of Kv1.2 channels using 4-Aminopyradine (4-AP) increases the fidelity of dopamine hotspot activity in WT striatum but not in late HD striatum, indicating that D2-autoreceptor regulation of dopamine release through Kv1.2 channels is compromised in late HD. These findings, enabled by nIRCats, provide a more detailed look into how dopamine release is disrupted and dysregulated during Huntington's Disease to alter the coverage of dopamine modulation across the dorsal striatum. Copy rights belong to original authors. Visit the link for more info Podcast created by PaperPlayer

If you grew up in the United States, you are most likely familiar with the song “This Land is Your Land”, one of the most famous American folk songs. Though it has been rerecorded and performed by many famous artists, you may not know the original writer and performer, Woody Guthrie. Woody Guthrie was born in 1912 and was, and still is, one of the most influential figures American folk music. He traveled across the U.S. for much of his life, lived through the Great Depression, the Dust Bowl, and World War II, and settled down in New York in the early 1950s. During this time, his health began to deteriorate, and he was hospitalized many times and was misdiagnosed with things from alcoholism to schizophrenia. In 1954, upon his admission to psychiatric hospital, he finally received the correct diagnosis: Huntington's Disease (HD). Sadly, Guthrie passed from complications of HD in 1967, but following his death, his ex-wife Marjorie Mazia founded the Huntington's Disease Society of America, and helped bring Huntington's Disease and the importance of research on the disease to the public eye. This publicity was well needed, as HD was not well known at the time and commonly misdiagnosed (such as the case of Guthrie's mother, who was institutionalized when he was 14, but posthumously diagnosed) (Woody Guthrie Official Website, n.d.). Though today there is a lot more information on the disease, there is still a long way to go to curing this fatal disease. Recent research has been looking towards the field of epigenetics to learn more about HD and possible treatments. But first, it is important to fully understand Huntington's disease and what causes it.

This week we chat with Kelly, a millennial obsessed dog mom.  She started an Instagram for her rescue dog, Finley, during the pandemic. Her husband, Jared and she both just turned 29 and reside in Wisconsin.  Their favorite activities include hiking, camping, volunteering for HDSA, their dog treat biz Bark River Pets, and visiting Hawaii.Her Instagram started as a platform for spunky videos and pictures of their pup, but she found a way to spread awareness and even further raise some money for Huntington's Disease (HD). HD is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. I lost my mother to this disease in 2015, and much of my childhood/early teens years were spent watching her decline - HD is a disease described as having ALS, Parkinson's and Alzheimer's diseases- simultaneously.  Symptoms include personality changes, mood swings, depression, forgetfulness, impared judgement, unsteady gait, involuntary movements, slurred speech, difficulty swallowing and significant weight loss.  Because the disease is genetic, there is a 50% chance I will inherit this same fate. There is testing available to see if I carry the gene, but for my own mental health, I've made the decision to not get tested, live the best life I can, and if we were to have a family  down the road, I will go through with testing at this time.  Her least favorite question is when people ask "when are you having kids?!?" because it's not that simple..Kelly connected with really wonderful accounts, including Sam's and found a way to speak about my mental health. She remembers thinking, WOW we're allowed to TALK about this!?!? She had never told anyone her story, except Jared! I truly didn't think you could talk about mental health... Therapy was never an option, because I would have never considered it. I grew up to believe therapy was a sign of weakness, and my last name was literally Strong! Now Kelly has been in therapy for over a year now and loves it.   She is learning so much about herself through therapy.Once she connected with people sharing their own experience with mental health, Kelly was ready to talk and share her story.   I remember my mom in her final stages of HD telling me she wanted to end her life, she wanted everything to be over because she was in so much pain. She saw her mom decline physically, but couldn't grasp the concept of her mental health declining until the very end. Persons with HD are at a higher risk for suicide and she is ready to start the conversation about this now. She is able to talk so openly now about mental health, but it took her many years to get there.Kelly says, "I don't have all the answers, but I have the best partner, friends, and family support group, always willing to join us at the next fundraiser!"Article Kelly Mentions during the episode: https://wisconsin.hdsa.org/news/-letstalkabouthd-with-kelly-strong?fbclid=IwAR0fk_K6gH-3TRjBSlaEWSTZolhp4mISPyxS6qvRU_X80JU5-ZOqaTVRNcU

May Is HD Awareness month, and our guests for this episode were Drs. Elton and Laquita Higgs. The couple adopted a little girl many years ago - who developed Huntington's Disease (HD). One of the most horrific diseases on the planet, HD eventually cost their daughter her life - but not before she had a daughter who also developed the genetic (and terminal) illness. Listen to their inspiring and insightful story - from their book, SHATTERED DREAMS - BUT HOPE: Encouragement for Caregivers of Huntington's Disease and Other Progressive Illnesses   For more information on HD, please visit HDSA.org (The Huntington's Disease Society of America)

Today we are speaking with Author and Public Speaker, Erin Paterson.  Erin is a Canadian author and public speaker who tested gene positive for Huntington's Disease (HD). Shortly after she started suffering from depression, then received more crushing news, she was infertile. Despite those diagnoses she was determined to have a family and live a joyful life. She is on a mission to positively impact other people's lives by writing and speaking about genetic disease, depression, and infertility. She shows that it is possible to live a meaningful life even when faced with unexpected obstacles.  She is the author of All Good Things: A Memoir About Genetic Testing, Infertility and One Woman's Relentless Search for Happiness. Erin is also the founder of Lemonade Press, a local publisher focused on empowering patient communities by helping people write and share their own journey's in specialized medical anthologies.In this episode we discussed: 1) The journey that Erin had to go through during her HD testing, infertility experience, as well as her work to move through a deep depression.  Erin shares how at the time it was survival and stacking one small thing on top of each other to build herself to where she is today.  2) The concept of vulnerability hangover and how it is a process of checking in every single day with what you need or what decision you need to make to move you one step closer to where you want to be. Sharing our stories can be an incredibly taxing and vulnerable process, yet it leads us to a beautiful space of seeing the gifts in our adversities. 3) Learning to share her story of testing positive for HD and infertility, allowed Erin to control the narrative, unpack her story, and allow her to support others in seeing that they are not alone in their stories of struggle. Connect with Erin: Website: https://www.erinpaterson.comPublishing Company Website: http://lemonadecommunity.comInstagram: https://www.instagram.com/erinpaterson_allgoodthings Facebook: https://www.facebook.com/ErinPatersonAllGoodThings LinkedIn: https://www.linkedin.com/in/erin-paterson Email: erinpaterson@outlook.com Erin's book is available on Amazon:https://www.amazon.ca/All-Good-Things-Infertility-Relentless/dp/1777917913/ref=sr_1_1?keywords=erin+paterson&qid=1639275611&s=books&sr=1-1 Marsha Vanwynsberghe — Author, Speaker, and Life Coach Marsha is the 6-time Bestselling Author of “When She Stopped Asking Why”.  She shares her lessons as a parent who dealt with teen substance abuse far past the level of normal experimentation. Through her programs, coaching, and live events for women, Marsha is on a mission to teach you how to “Own Your Choices” in your own life.  She teaches women how to own their stories, lead themselves and pay it forward to others by creating businesses that serve, support, and impact others.

Toronto author and public speaker, Erin Paterson, tested gene positive for Huntington's Disease (HD) in 2007. Shortly after she started suffering from depression, then received more crushing news, she was infertile. Despite those diagnoses she was determined to have a family and live a joyful life. She is a proud mom who loves to run and bike in her spare time. She is on a mission to positively impact other people's lives by writing and speaking about genetic disease, depression, and infertility. She shows it is possible to live a meaningful life even when faced with unexpected obstacles. She is the author of, All Good Things: A Memoir About Genetic Testing, Infertility and One Woman's Relentless Search for Happiness (view on Amazon.com) Erin Paterson is also the founder of Lemonade Press, a local publisher focused on empowering patient communities by helping people write and share their own journeys in specialized medical anthologies. To learn more about Erin, visit her website www.erinpaterson.com.

Toronto author and public speaker, Erin Paterson, tested gene positive for Huntington's Disease (HD) in 2006. Shortly after she started suffering from depression, then received more crushing news, she was infertile.  Despite those diagnoses she was determined to have a family and live a joyful life. Her stories have appeared on over a dozen sites including KevinMD, TheMighty and HuntingtonsDiseaseNews.com. She is the author of, All Good Things:  A Story About Genetic Testing, Infertility and One Woman's Relentless Search for Happiness You can visit Erin's website at: https://www.erinpaterson.com/ You can get the book on Amazon here.

Chad Briscoe and Jim McNally talk with Emmy-winning journalist and producer Charles Sabine on this episode of Molecular Moments. Their discussion centers around rare diseases, gene therapy and Huntington's Disease (HD). Charles, a carrier of the HD gene who has lost several immediate family members to the disease, is an ardent advocate for patients and families suffering from rare degenerative diseases. From covering war zones to becoming a gene therapy patient, they discuss Charles’ career with MSNBC, his subsequent coverage of the Bosnian War, and his Emmy-winning coverage of the Romanian revolution. He also shared about his family’s medical issues, including his discovery that his father, uncle, and brother were all HD gene carriers. His father was one of the first people to be tested genetically for the disease in 1993. Jim, Chad, and Charles discuss the possibility of gene therapies halting further disease development rather than doctors prescribing drugs for a lifetime. Additionally, the trio discuss the boom in gene therapies, the pros and cons of genetic testing, and how rare disease patients are generally underserved in the biotech industry. See omnystudio.com/listener for privacy information.

Seth Rotberg joined the HD Insights Podcast for this episode. Seth is a patient advocate, community connector, and motivational speaker who is passionate about bringing his personal experience to support the health community. His passion is driven by his mother's 17-year battle with the rare, genetic disease known as Huntington's Disease (HD). Five years after learning about his mother's diagnosis, Seth went through genetic testing and found out he tested positive for HD and may end up like his mom one day.  In 2019, Seth co-founded the nonprofit, Our Odyssey, to provide year-round social and emotional support to young adults impacted by a rare or chronic condition. He has a master's in nonprofit management from DePaul and currently resides in Cambridge, MA. Professionally, he works as the Patient Leader Recruitment Manager at WEGO Health. To learn more about Seth, visit https://www.sethrotberg.com. For more information about Our Odyssey, go to https://ourodyssey.org. 

In this episode, I talk with my friend Tina about her motherhood journey from her diagnosis with Huntington's Disease (HD), IVF, genetic testing, gestational diabetes, and her delivery!HD causes deterioration in a person's physical, mental, and emotional abilities, usually during their prime working years. It's said HD is like having Parkinson's, ALS, and Alzheimer's at the same time. Huntington's Disease still has no cure. To learn more about Huntington's Disease or make a donation to help in finding a cure, visit hdsa.orgGuest's Recommendations:Secrets of the Baby Whisperer: https://www.amazon.com/Secrets-Baby-Whisperer-Connect-Communicate/dp/0345479092Total Prenatal + DHA : https://www.amazon.com/Pink-Stork-Recommended-Nutrition-Vegetarian/dp/B07G4C85XXIf you're interested or know someone who might be interested in coming on the podcast to talk about babies, parenthood, and everything in between — email the podcast at babymakingpod@gmail.com Don't forget to subscribe, follow us on Instagram @thebabymakingpodcast and on Facebook at The Baby Making Podcast!____________________________________________________________________________________________Music : Roa - FreedomWatch : youtu.be/OS7r703elnsStream / Download : fanlink.to/Roa_FreedomLicense : roamusic.wixsite.com/roamusicEpisode is LivePublished: Feb. 16, 2021 @ 1AM EditUnpublishAdd a TranscriptGet episode better indexed by search engines.Add Chapter MarkersListeners can tap through & see what's coming up.Visual Soundbite AvailableSquare Soundbite - 0:30Great for Facebook, Twitter and Instagram.Download SoundbiteDelete this Soundbite and create a new one.Share Episode OnFacebookTwitterLinkedInMore OptionsEmail Link to Episode CopyDirect Link to MP3 Copy Support the show (https://www.buymeacoffee.com/babymakingpod)

This week, Kip walks with Seth Rotberg along the Charles River in Cambridge. Seth talks about discovering his mother’s Huntington’s Disease (HD) diagnosis at 15 years old and subsequently learning that he too, carries the gene that will lead to him developing HD at some point in his future. Seth explains how this experience, which at times is very isolating, led him to seek out support and connection in the HD and broader rare disease communities. As a result, Seth went on to found a non-profit organization dedicated to serving those struggling with rare and chronic conditions to provide emotional and social support. Kip and Seth also share their thoughts around vulnerability, judgement, fear, and embracing the present moment. Seth Rotberg is Co-Founder of Our Odyssey, a non-profit established in 2019 to improve the quality of life for young adults with rare or chronic diseases. For more information about Seth and Our Odyssey, you can visit: https://ourodyssey.org/

ONCE UPON A GENE - EPISODE 064 Seth Rotberg Founder of Our Odyssey and His Mental Health Surrounding a Huntington’s Disease Diagnosis  Our Odyssey is an organization that supports young adults living with rare disease and chronic illness. The founder of Our Odyssey, Seth Rotberg, is passionately driven by his mother's battle with a rare genetic disease called Huntington's Disease (HD). At the age of 20, he also tested positive for the disease. He dedicates his life to helping others on their rare disease journey and chronic illness. EPISODE HIGHLIGHTS What is your connection to the rare disease world? My story started at age 15 when my mom was diagnosed with Huntington's Disease (HD), a rare neurological disease that slowly deteriorates a person's physical and cognitive abilities for which there's no cure. I was fortunate to have a good support system at the time, but no one understood what it meant to be a young adult with a family member impacted by a rare disease. I didn't realize initially that I could also be a carrier of the disease and later found out in college that I was at risk. It impacted me mentally wondering if I had it and I finally got tested so I could plan for my future. I went through genetic testing and tested positive for Huntington's Disease which means I'm not technically diagnosed or currently living with the disease, I'm a gene carrier. Knowing what Huntington's Disease did to my mom, I'm preparing for that happening one day. How fast did your mom's disease progress and were you at all involved in her daily care? For years my mom was treated for depression and mood swings, but the other aspects of wobbly movements, poor balance, slurred speech and other cognitive and behavioral effects of the disease. We had a family intervention with my mom and suggested she be checked into a mental health facility. After some testing and further evaluations, it was discovered Huntington's Disease. My dad was her caregiver for 17 years and I helped out, taking on additional responsibility at home. I had to grow up a lot faster than my friends and I went through a lot as a young adult. When you got your test results back that you were in fact a carrier for Huntington's Disease, what were your next steps? I thought a lot about what it meant for me and my future and who to tell. I didn't tell my parents for three years because I didn't want my mom to feel guilt when she was already suffering. I was fortunate to have a friend from the HD community with me when I got my results. She was also a young adult who understood and she was there for me. I tried to carry on like the results were not a big deal, but realized over time that it was a part of me and was part of my story. Did you feel freedom when you shared your test results with friends and family? Telling people lifted a large amount of weight off my shoulders. I told most people by way of a local newspaper article. What shifted my mindset to tell people was two major life experiences of a good friend passing away unexpectedly in an accident and another friend passing from an ultra rare form of juvenile Huntington's Disease. I realized from this that they lived in the moment and shared their stories and that there was an opportunity to share and help others. How did you arrive to the point of starting Our Odyssey? It was because there was an unmet need. I never thought I'd start a nonprofit, but I realized there was a need for young adults living with rare disease. We wanted to help young adults throughout the year, aside from annual events to stay connected and network with others who get it. I was at a rare disease week, talking to young adults about it and there was a lot of interest in putting it together.  What's your most profound accomplishment? The first is doing a TEDx talk in my hometown, speaking to people afterwards and realizing the power of storytelling and the impact on the community. The other accomplishment was being awarded by the Boston Celtics as the Hero Among Us, which they award at every home game to someone doing work in the community. LINKS AND RESOURCES MENTIONED EPISODE 048 - What is Chronically Surviving with Marcelle Longlade https://effieparks.com/podcast/episode-48-chronically-surviving EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome Our Odyssey https://ourodyssey.org/ TEDx Navigating Genetic Disease Testing: A Personal Story https://www.ted.com/talks/seth_rotberg_navigating_genetic_disease_testing_a_personal_story TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.10.29.359380v1?rss=1 Authors: Yu, D., Zarate, N., Cuccu, F., Yue, J. S., Brown, T. G., Tsai, W., Mansky, R., Jiang, K., Kim, H., Nanclares, C., Nichols-Meade, T., Larson, S. N., Gundry, K., Zhang, Y., Benneyworth, M., Öz, G., Cvetanovic, M., Araque, A., Gomez-Pastor, R. Abstract: Huntington's Disease (HD) is a neurodegenerative disorder caused a polyglutamine expansion in the HTT protein. This mutation causes HTT misfolding and aggregation, preferentially affecting neurons of the basal ganglia. Other aggregation-prone proteins like alpha-synuclein (-syn), mostly associated with Parkinson's disease (PD), has recently been involved in motor deficits in HD, but its mechanism of action is unknown. Here we showed that -syn serine 129 phosphorylation (-syn-pS129), a posttranslational modification linked to -synucleinopathy, is highly phosphorylated in the brain of symptomatic zQ175 HD mice. We demonstrated that such phosphorylation is mediated by Protein Kinase CK2 alpha prime (CK2'), which is preferentially induced in striatal neurons in HD. Knocking out one allele of CK2' in zQ175 mice decreased -syn-pS129 in the striatum and ameliorated several HD-like symptoms including neuroinflammation, transcriptional alterations, excitatory synaptic transmission dysfunction and motor deficits. Our data suggests CK2'-mediated synucleinopathy as a key molecular mechanism for striatal neurons degeneration in HD. Copy rights belong to original authors. Visit the link for more info

EPISODE SEVEN of Change Makers with our special Guest being Seth Rotberg to talk of his work inspiring people to embrace the moment and live in the moment.Please Join us a 6:00pm ET on Wednesday, October 28th.This show will be Hosted by Anthony Russo, but we will allow for this amazing guest to do the bulk of the talking and tell their amazing story. This is going to be a bit of a cathartic episode as both Anthony and Seth have experience dealing with disability and Huntington's Disease.Seth is a patient advocate and motivational speaker who is passionate about bringing his personal experience to better support the health community. His passion is driven by his mother’s 17-year battle with the rare, genetic disease known as Huntington’s Disease (HD). Throughout his lifelong odyssey of overcoming this adversity, he came to understand something profound about the meaning of life. Now he dedicates his life to helping others along their odyssey of facing adversity or roadblocks in life.We will be having a 45 minute (ish) show with Seth to talk about how he has made it his life mission to create change.#BeTheChange #StreetlightsUnityMovement***Make sure if you miss this and want to just listen via podcast go to https://www.hashtagbethechange.com/podcast to find all the #BetheChange Podcasts. Please remember to subscribe on your chosen platform!Learn more about Seth Rotberg and about Our Odyssey: https://sethrotberg.com/https://ourodyssey.org/Subscribe to the official #BeTheChange pages:https://www.facebook.com/BeTheChangeUSAhttps://www.youtube.com/c/bethechangeusahttps://twitter.com/BETHECHANGE_USAhttps://www.instagram.com/bethechange_usa/Learn more about Anthony Russo and how you can be a part of the Movement:https://www.hashtagbethechange.com/Support the #BeTheChange Podcasts through the Patreon page below:https://www.patreon.com/BeTheChangeUSA?utm_medium=social&utm_source=facebook&utm_campaign=creatorshare&fbclid=IwAR3N4knxOVpVLrQ59StRi3Tos1FxitHlgKeC3EC2EWKQer1jljfXEYsdzwU

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

Phil’s Kids was set up in memory of Dr Phil, who sadly passed away from Huntington’s Disease (HD) in 2014. Whenever Dr Phil lost a patient he would immediately go and look at the new-born babies. He did this, he said, because it reminded him of the circle of life, of life continuing, of new hope and who knew what amazing feats these new humans might achieve. It was because of his belief in future generations, the possibilities of medical science and his great love of children that we decided to start Phil’s Kids. Stopping the passing of the gene is the only way to reduce the numbers of those with HD. Phil’s Kids aims to assist people to do just that. By offering financial support, information, advice and peer support for PGD-IVF we hope to be able to help the HD community to stop this horrendous disease in its tracks. The charity wants this generation within a family to be the last generation in that family to have HD, ever. 

Seth found out as a 15-year-old that his mom had a rare, neurological, genetic disease known as Huntington’s Disease (HD). HD is like having symptoms of ALS, Alzheimer’s, and Parkinson’s all at once, and there currently is no cure. Five years later, Seth tested positive for HD and used the results as motivation to give back to the community through fundraising, advocacy, and volunteer efforts. His hope is to be a mentor for young people who face adversity by sharing how taking control of his HD journey has given him opportunity, fulfillment, and hope. 

Phil’s Kids was set up in memory of Dr Phil, who sadly passed away from Huntington’s Disease (HD) in 2014. Whenever Dr Phil lost a patient he would immediately go and look at the new-born babies. He did this, he said, because it reminded him of the circle of life, of life continuing, of new hope and who knew what amazing feats these new humans might achieve. It was because of his belief in future generations, the possibilities of medical science and his great love of children that we decided to start Phil’s Kids. Stopping the passing of the gene is the only way to reduce the numbers of those with HD. Phil’s Kids aims to assist people to do just that. By offering financial support, information, advice and peer support for PGD-IVF we hope to be able to help the HD community to stop this horrendous disease in its tracks. The charity wants this generation within a family to be the last generation in that family to have HD, ever. 

This episode features Western Washington University professor Dr. Jeff Carroll.  In this show we talk about Huntington’s Disease (HD) and is the third in our neuroscience series (one each season). We tackle a very serious illness with a combination of reverence and humor.  Dr. Carroll takes us through the history of disease, his personal journey with the illness and his research on HD at WWU. For more information check out HDBuzz   Image Courtesy of YourGenome

Nationwide, an estimated 30,000 people are battling Huntington’s Disease (HD) and one of those people fighting is Lee Smith. Smith was diagnosed with HD in 2012. “It’s a genetic neurological disorder. It attacks the cells in the brain so it affects the individual both mentally and physically,” said Mike Smith, Lee’s husband. The Smiths’ son, Joe Smith, former Wright State baseball player and current Anaheim Angels pitcher, along with his wife, created helpcurehd.com after his mom’s diagnosis. The website gives information about HD and also a link to help researchers at the Cleveland Clinic find a cure. The Smiths’ goal is to raise $2 million to support a study of deep-brain stimulation that could be useful for people battling HD. On May 13, Wright State raised $5,600 for the study from ticket sales and blue hats sold at a double header at Nischwitz Stadium.

Monday, August 1, 2011 – Our incredible special guest tonight is Dr. Diana Rosas, MD, Director, Center for Neuro-Imaging of Aging and Neurodegenerative Disease. Dr. Rosas and her team have focused primarily on the development of biomarkers for use in the study of neurodegenerative diseases, to better characterize progression, to better understand genotype/phenotype correlations and to apply novel neuroimaging approaches in clinical trials with the overall aim of making them more efficient. Dr. Rosas' lab has begun to develop models that may explain clinically heterogeneous phenotypes and variability in disease progression. The current models for both disease prediction and prediction of disease progression are insensitive and inaccurate. Dr. Rosas is planning to expand her efforts to include multi-modal and multi-spectral imaging approaches that promise both more precise measurements and may provide novel and important information on the neural underpinnings of HD and their clinical consequences. Dr. Rosas is Co-Principal Investigator for the CREST-E Study. CREST-E stands for Creatine Safety, Tolerability, & Efficacy in Huntington's Disease. The Huntingtons Study Group (HSG), in a partnership between Massachusetts General Hospital (MGH) and the University of Rochester, is conducting a global, multi-center, randomized, double-blind, placebo-controlled clinical trial in individuals 18 years of and older with Huntington's Disease (HD). Tonight is the third and final episode in the CREST-E Series. Tune in for another amazing episode about CREST-E.

Our special guest tonight is Dr. LaVonne Goodman, a “mostly retired” internist and patient advocate who decided to help a Seattle clinic recruit patients with Huntington's Disease (HD) and was wildly successfully at it. Her secret, she says, is having a personal relationship with many, many patients. Her husband died of HD at age 36. Since then she has seen HD patients and led support groups, building relationships as a friend to families dealing with HD. She has kept a close watch on the clinical studies field, but all studies were observational in nature and not designed to alter the course of their disease or symptoms. Then in 2010, she heard that the first compound designed for motor improvement in HD patients was entering phase II trials. After realizing the Seattle area was not involved, she pressed the Huntington's Study Group who connected her with a Colorado physician who had just joined Evergreen Neuroscience Institute in Seattle. The two decided to work together on the trial with Goodman handling recruiting. Because of her long standing relationships with HD families, they were literally waiting at the door. Evergreen emerged as the third best recruiter for the trial, among very established centers. She emphasizes, the personal angle is key. Clinical research literacy is low because people don't know much about clinical trials, they are afraid of them. She stresses that the conversation about clinical trials should come from someone they trust in their community, not a lecture from a stranger. Goodman is staying active in recruiting for studies and is currently working on amassing a cohort to be used for a registry for biomarker studies. She says it is her passion to try to speed that along because there was nothing for the last generation, but for this generation, it could be different. Her website is http://hddrugworks.org