Podcasts about Epidermolysis bullosa

Adam Cox hosts a special episode of 'Under the Skin', and he is joined by Chirs Griffiths OBE. This episode looks at highlighting the effects of people living with Epidermolysis Bullosa, the condition, treatments, drug breakthroughs as well as discussing other skin conditions. https://www.debra.org.uk/ 

In episode fourteen, PeDRA Pub Club host Hannah Chang, and guest panelists, Kalyani Marathe, MD, Cristy Garza-Mayers, MD, PhD, and Allison Miller, MD discuss a recent PeDRA publication, Transition of Care in Adolescents with Epidermolysis Bullosa: The Provider Perspective published in Pediatric Dermatology in 2024. Whether you're a longtime pediatric dermatologist, currently in training, or a patient or advocate who wants to learn more about the latest research in pediatric dermatology, this podcast is for you. Through a structured roundtable discussion, listeners will gain valuable insight into publications relating to pediatric dermatology and understand what this research means for both patients and providers.

Karen Thackray from DEBRA UK and Lisa Irvine joined us to discuss the rare skin condition epidermolysis bullosa (EB), sometimes known as butterfly skin.Lisa and her daughter live with EB and offer first-hand insights into the genetic skin condition that causes painful blisters. Karen breaks down the four main types of EB and their varying impacts. Through our conversation, we aim to raise awareness and foster a deeper understanding of EB as a dynamic disability that causes severe pain, as well as the emotional toll of constant adaptation to manage and care for the skin and judgement of strangers.If you are experiencing any issues discussed in this podcast, please contact your healthcare practitioner. For support:DEBRA UK DEBRA Ireland DEBRA International  Hosted by Chantal Boyle, Hidden Disabilities Sunflower.  If you enjoyed this podcast, please leave a rating and review.Follow us on socials: https://www.facebook.com/hiddendisabilitiessunflower/https://www.instagram.com/sunflowerlanyardscheme/?hl=enhttps://www.youtube.com/@hiddendisabilitiessunflower https://www.linkedin.com/company/hidden-disabilities  Find out more about the Sunflower by visiting the website hdsunflower.com Music by "The Emerald Ruby" Emerald Ruby Bandcamp and Emerald Ruby website 

On this edition of TMWS, I have Sylvia Corradin sharing her personal experience with her son, Nicky, and the EB community. Listen & share.

As an artist, you'll eventually face donation requests to have your art auctioned off for a good cause. And while it is an absolute honor, how do you decide which requests to accept — and which to politely decline?  In this episode, I'm sharing the art of setting boundaries and making thoughtful decisions when it comes to donating your work. Because yes, donating your art can be incredibly rewarding — but only if you approach it with intention and clarity.  Make sure to subscribe to this podcast so you don't miss a thing! And don't forget to come hang with me on Instagram @jodie_king_. Interested in being a guest on a future episode of Honest Art? Email me at amy@jodieking.com! Resources mentioned: Applications are now open for Studio Elite: https://www.jodiekingart.com/studioelite Epidermolysis Bullosa: https://www.ebresearch.org/ Yellowstone Academy: https://yellowstoneschools.org/     Susan G Koman: https://www.komen.org/support-resources/tools/komen-education-materials/ National Breast Cancer Foundation: https://www.nationalbreastcancer.org/   Subscribe to my Patreon for as little as $1 a month and get access to additional art career resources: patreon.com/honestartpodcast  How are you liking the Honest Art Podcast? Leave us a review on your favorite podcast platform and let us know!     Watch this full episode on my YouTube channel: https://www.youtube.com/channel/UC64Vn6NF5BfiwLNTSb_VnDA  For a full list of show notes and links, check out my blog: www.jodieking.com/podcast    

This is the second episode of a two-part educational series to raise awareness of epidermolysis bullosa (EB) and the latest FDA-approved treatment options for this disease. Our host, Dr. Michael Lavery, a Pediatric Dermatologist and Clinical Assistant Professor at the University of Florida in Gainesville, FL, is joined by Dr. Joyce Teng, MD, PhD, Professor of Dermatology and Pediatrics at Stanford University School of Medicine in Stanford, CA, as they discuss the following topics: Setting the stage for treating a patient with EB Assessing EB severity and subtype to inform treatment Expert review of the current FDA-approved treatments and Strategies to close care gaps for EB patients

This is the first episode of a two-part educational series to raise awareness of epidermolysis bullosa (EB) and the latest FDA-approved treatment options for this disease. Our host, Dr. Joyce Teng, MD, PhD, Professor of Dermatology and Pediatrics at Stanford University School of Medicine in Stanford, CA, is joined by Dr. Michael Lavery, a Pediatric Dermatologist and Clinical Assistant Professor at the University of Florida in Gainesville, FL, as they discuss the following topics: Epidemiology and prevalence of EB Burden of disease and impact on patients' quality of life Gaps and challenges for patients with EB Assessing the current knowledge of clinicians and gaps in care recommendations

Join Little Ed as he interviews two very special guests, Robbie Twible and JJ Lawlor.  Robbie joins us to tell us his story with EB and the every day struggles that come along with it.  JJ, Robbie's cousin-in-law, will be running in the NYC Marathon on 11/3/24 on the EB Research Team to raise money on Robbie's behalf.  Please join us in donating any amount you can or share it on your socials:https://give.ebresearch.org/fundraiser/5761641Or you can find the link on our Socials#EBResearch ‪@EBResearch on InstagramFollow Us:Instagram: @rangers_ed.podhttps://www.instagram.com/rangers_ed.pod/Youtube: Rangers Ed. Podcasthttps://www.youtube.com/@rangersed.podcastX: @rangers_edpod https://twitter.com/rangers_edpodX: @RangersEd150 (Mikey150's around the league) https://twitter.com/RangersEd150X: @CoachEd77 (Coach Ed's thoughts and texts from the group chat) https://twitter.com/CoachEd77Facebook: Rangers Ed Podcast

Our guest for season 4 of "Everything I know About Me" is one of the most formidable and successful footballer players Scotland has ever produced - Graeme Souness. Graeme was interviewed over 2 days in December 2023 where he opened up about his childhood in the pre-fabs of Edinburgh all the way through to the present day via all of his achievements but also the tragedies and controversies he has endured. In today's episode, Graeme takes to the sofa as a football pundit and we find out how even sat down in a studio, there's never a dull moment when Graeme is concerned. He talks about commentating on a game in the aftermath of the horrific Heysel Stadium disaster, we hear about what he really thinks of co-pundits such as Gary Neville and Jamie Carragher and he bluntly tells us what he thinks about almost being cancelled for saying “It's a man's game all of a sudden again”. Finally we hear about how a little girl with Epidermolysis Bullosa has stolen his heart and how he now dedicates his time to raising millions of pounds for DEBRA, a charity that supports individuals and families dealing with this horrific skin blistering condition. Learn more about your ad choices. Visit podcastchoices.com/adchoices

Novelette is 38 year old woman, living with a life limiting illness, called Epidermolysis Bullosa. I have the Recessive Dystrophic form of Epidermolysis Bullosa, RDEB. I live in Canada. I have a specialist in philosophy from the University of Toronto. Since 2018, I have been a trained hospice and peer bereavement Volunteer. I co-facilitate a lot of peer bereavement groups. I do a lot of mindfulness for grieving loss groups. I also help with training new hospice and peer bereavement volunteers. I've also volunteered as a hospice care companion to others, living with a life limiting illness.  I enjoy writing poetry and painting. Talking walks in nature. And I enjoy spending time with my nieces and nephew and caring for my cat.

Imagine giving birth to a baby girl and noticing pieces of skin missing from her body almost immediately.  For Sharmila Nikapota, this was the case with her firstborn, Sohana. Genetic testing revealed that she was one of the over 500,000 people globally suffering from Epidermolysis Bullosa (EB), a “constantly painful and debilitating” skin condition where minimal contact can lead to blisters, wounds, tissue damage, eating difficulties, and eye injuries, among other symptoms. After seeking answers for her daughter's prognosis and not getting any, Sharmila started Cure EB to educate people and eventually discover ways to manage this painful condition. With the UK approving a first-of-its-kind topical treatment for EB, she hopes it's the first of many that can give patients like her daughter a better quality of life.Join Sharmila as she discusses how Sohana's experience with EB has shaped her personality, the origin and mission of Cure EB, the challenges of managing Sohana's condition, and what you can do to further Cure EB's ultimate goals.Show Notes Cure EB - Accelerating Research to End Painful SkinBirch Bark Extract: A Review in Epidermis BullosaCharles River | Cell and Gene TherapyCharles River | Rare DiseaseEureka Blog | Living RareKrystal Biotech Touts Topical Gene Therapy Uptake

Vie Portland is a Confidence Coach, an author, a speaker, a trainer and a human empowerer who helps people find their fabulous... A huge thank you to Vie for her time. Full show notes further down... This is Ep36 of

In episode two, PeDRA Pub Club host, Donglin Zhang and guest panelists, Christina Boull, MD, Diana Reusch, MD, and Cristina Foschi, MD, discuss a recent PeDRA publication, Assessing Pain Catastrophizing and Functional Disability in Pediatric Epidermolysis Bullosa Patients. This study was originally published in May 2023 in Pediatric Dermatology. Whether you're a longtime pediatric dermatologist, currently in training, or a patient or advocate who wants to learn more about the latest research in pediatric dermatology, this podcast is for you. In an approachable roundtable discussion, listeners will gain insight into publications relating to pediatric dermatology and learn what the research means for patients and providers.

In today's episode we get LOUD with Lily as she discusses what having EB is like and how her love for makeup and beauty helped her build confidence and break down beauty standards. Let's get LOUD!Watch this episode on YouTube: https://youtu.be/twQL9P_50IUFollow Lily on TikTok: https://www.tiktok.com/@grwmwithlily8?lang=en

How can novel therapies improve the lives of your patients with epidermolysis bullosa (EB)? Credit available for this activity expires: 3/28/25 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/1000534?ecd=bdc_podcast_libsyn_mscpedu

In this week's Talking Life, Rory talks to Lucy Beall, someone who suffers from a rare disease called Epidermolysis Bullosa, or EB, which effects just 5000 people in the UK.

Alopecia Areata Incognita, Epidermolysis Bullosa Simplex & Pili Torti Lottie lives in West Yorkshire. She has a rare skin condition called epidermolysis bullosa simplex, which she has had since childhood, which had a big impact on her life. Then just as that started to improve, at the age of 14 she developed alopecia areata incognita. She also has pili torti. She began working in the hair loss industry when she was asked to take over Verve hair loss salon in 2020, where she used to be a client. The owner wanted to choose someone to hand the business over to who had experience of hair loss and also an interest in business. She now runs the salon with her mum.Lottie is also now studying with the institute of Trichology, where she is enjoying learning more about her conditions within her course.We discuss her conditions, what they are and how they impact her day to day life, how she has dealt with her alopecia and the strategies she has employed such as psychotherapy.She also shares her decision to change from a fitted hair system to wearing wigs, to give her more choice and freedom, and how her Instagram account has helped her come to terms with being hair free.Connect with Lottie:InstagramVerve hair lossInstagram Hair & Scalp Salon Specialist course Support the showConnect with Hair therapy: Facebook Instagram Twitter Clubhouse- @Hair.Therapy Donate towards the podcast Start your own podcastHair & Scalp Salon Specialist Course ~ Book now to become an expert!

For the AMA Style cheat sheet learnamastyle.com See the full write ups for today's episode at nascentmc.com/podcast Here are the highlights:  Test for Risk of Opioid Addiction:The FDA has approved AvertD by SOLVD Health, a test for assessing opioid addiction risk in individuals over 18, using genetic variants to evaluate addiction risk before prescribing oral opioids for acute pain; however, it's met with skepticism and not intended for chronic pain patients. https://www.cnn.com/2023/12/20/health/opioid-use-disorder-test-avertd/index.html https://avertdtest.com/  Filsuvez for Junctional Epidermolysis Bullosa:Filsuvez, a birch triterpenes topical gel, received FDA approval for treating Junctional and Dystrophic Epidermolysis Bullosa (JEB/DEB) in individuals aged 6 months and older, marking the first FDA-approved therapy for JEB's partial thickness wounds and a significant advancement in managing this debilitating skin disorder.https://resources.chiesiusa.com/Filsuvez/FILSUVEZ_PI.pdf Budesonide for IgA Nephropathy:Budesonide (Tarpeyo) received full FDA approval for reducing kidney function loss in adults with IgA nephropathy (IgAN), targeting specific antibodies implicated in IgAN based on phase 3 NefIgArd clinical trial data, marking the first FDA approval for IgAN treatment based on kidney function measures. https://www.tarpeyo.com/prescribinginformation.pdf Eplontersen for hATTR Polyneuropathy:Eplontersen (Wainua) was approved by the FDA for treating polyneuropathy in adults with hereditary transthyretin-mediated amyloidosis (hATTR-PN), based on the NEURO-TTRansform Phase III trial, and is the only hATTR-PN treatment that can be self-administered via an auto-injector. https://pubmed.ncbi.nlm.nih.gov/37768671/ https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217388s000lbl.pdf NRX-101 for Complicated UTI:The FDA cleared an Investigational New Drug application for NRX-101, a D-cycloserine and lurasidone blend developed by NRx Pharmaceuticals for treating complicated urinary tract infections, with a pending request for Qualified Infectious Disease Product designation. https://www.prnewswire.com/news-releases/nrx-pharmaceuticals-announces-fda-clearance-of-its-investigational-new-drug-ind-application-for-nrx-101-in-the-treatment-of-complicated-urinary-tract-infections-302017523.html?utm_source=pocket_saves Gefapixant for Chronic Cough:Merck's gefapixant, a selective antagonist of P2X3 receptors for treating chronic cough, was rejected by the FDA for the second time due to insufficient evidence of effectiveness in treating refractory or unexplained chronic cough in adults. https://www.businesswire.com/news/home/20231220302305/en/Merck-Provides-U.S.-Regulatory-Update-on-Gefapixant V116 for Invasive Pneumococcal Disease:Merck's V116, a 21-valent pneumococcal conjugate vaccine, was accepted by the FDA for priority review to prevent invasive pneumococcal disease in adults, based on STRIDE-3 Phase 3 trial data, with a target action date set for June 17, 2024. https://www.merck.com/news/fda-grants-priority-review-to-mercks-new-biologics-license-application-for-v116-an-investigational-21-valent-pneumococcal-conjugate-vaccine-specifically-designed-to-protect-adults Sotorasib in NSCLC:Lumakras (sotorasib), already under accelerated approval for KRASG12C-mutated non-small cell lung cancer (NSCLC), faces uncertainty for full FDA approval after an advisory committee voted against it, though it will remain available for clinical use.https://www.onclive.com/view/codebreak-200-sotorasib-in-second-line-kras-g12c-mutated-nsclc nascentmc.comlearnAMAstyle.com

In Barbours Cut, novelist Nancy E. Potter has combined family lore, documented facts, and her imagination to create this largely factual, story of her ancestors. Potter's great-grandfather, Clyde A. Barbour, a determined young man with boundless ambition, lived and worked on his family's flatboat on the Mississippi River before becoming a steamboat captain. A self-educated man of culture with a passion for architecture, design, and the arts, Clyde grew into a successful businessman and pioneer of American industry and development. With his beloved wife,Jennie, by his side, he built a life for his growing family that provided them with opportunities and life experiences even beyond what even he had imagined. In his colorful life Barbour dealt with significant life challenges among them family alcoholism, infidelity, jealousy and many other dangers, such as dealing with Mexican revolutionaries. He enhanced the lives of many of those around him, as well as many he had never met.Nancy E. Potter was born in New Orleans, Louisiana. At the age of nine, she moved with her family to Europe. While spending five wonderful years abroad, Potter gained an appreciation for people from very different cultures. After graduating from college, Potter moved to Washington, D.C., to work on Capitol Hill and at the White House in the Office of Communications. Her entrepreneurial mindset led her into the garment industry, where she designed fashionable maternity clothes. One of Potter's sons was born with a rare genetic skin disease called Epidermolysis Bullosa (often referred to as E.B.). Out of her son's many years of pain, she learned to marvel at the little thing he could accomplishand gained great compassion for those with special needs and their caregivers. Her son is now 30 and doing well. To raise awareness and funds for much-needed research, she put on the first-ever major fundraisers for E.B. in the1990s, and continues to work to bring awareness to the disease. Please consider donating to this organization by visiting www.debra.org.

Guests Toni Roberts | who has lived with Epidermolysis Bullosa all her life.  Dr. Antoinette Chateau | A paediatric dermatologist working in the public sector.  See omnystudio.com/listener for privacy information.

I detta avsnittet har vi med oss Mike som lever med Epidermolysis Bullosa Dystrofisk, även kallat "Fjärilsbarn", en sjukdom som innebär en frånvaro av ämnet kollagen-7 i kroppen. Mike har trotsat vården hela livet och bevisat dom fel gång på gång, han tog studenten som 17 åring, han jobbar, gör musik, skapar content på TikTok, en riktig käär som bjuder på sig själv! Trevlig lyssning. - Mikes låt: https://artist.sptfy.com/OYmx

First oral antiviral approved for COVID-19; First topical treatment approved for epidermolysis bullosa; Xacduro gets green like for bacterial pneumonia; New nasal spray for opioid overdoses; Child cough suppressant recalled.

Dean Clifford has defied the odds and overcome numerous challenges to become one of the world's best weightlifters. Dean was born with epidermolysis bullosa, a rare genetic condition that causes his skin to blister and tear at the slightest touch. Despite this, Dean has managed to double his life expectancy and has become an inspiration to many and a wonder to the medical community. He talks about the challenges he has faced growing up with skin difference, including being unable to play many sports due to the fragility of his skin. Dean's story is one of resilience, determination, and the power of the human spirit to overcome adversity. He talks about his journey and how he has managed to achieve so much despite his condition. Dean socials: https://www.instagram.com/itsdeanclifford/?hl=en https://www.linkedin.com/in/dean-clifford-4820ab32?originalSubdomain=au Check out this video on YouTube fully captioned: https://youtu.be/jHbxfLarcAU Join the 10,000+ legends on Instagram: @ListenABLE_ Podcast https://www.instagram.com/listenable_podcast/ Grab our first merch release at our website From Your Pocket https://fromyourpocket.com.au/work/listenable/merchSee omnystudio.com/listener for privacy information.

Das ausführliche Interview zum Thema "Epidermolysis Bullosa". Mit Prof. Dr. med. Cristina Has und Prof. Dr. Tobias Hirsch, geführt von Antje Thiel. Epidermolysis bullosa bezeichnet eine seltene Erkrankung der Haut, die genetisch bedingt ist und oft von Geburt an auftritt. In Deutschland leben geschätzt etwa 4.700 Betroffene. Epidermolysis bullosa oder kurz EB kommt aus dem Lateinischen und steht für eine blasenförmige Ablösung und Erosionen an Haut oder Schleimhäuten nach (geringer) mechanischer Belastung. Rund eines von 20.000 neugeborenen Babys wird mit EB geboren. Kinder mit EB werden auch als „Schmetterlingskinder“ bezeichnet, weil „ihre Haut so verletzlich ist wie die Flügel eines Schmetterlings.“ In diesem Podcast berichten Frau Prof. Dr. med. Cristina Has und Herr Prof. Dr. Tobias Hirsch eindrucksvoll von ihren Erfahrungen aus ihrer täglichen Praxis. Diese Erkrankung kann in ganz verschiedenen Formen und Schweregraden auftreten und muss entsprechend individuell diagnostiziert und therapiert werden. Erfahren Sie mehr über dieses Krankheitsbild, die konservative Therapie sowie einen wissenschaftlichen gentherapeutischen Ansatz anhand eines Fallbeispieles. Erhalten Sie praktische Tipps zur Wundversorgung, zu Studiendaten oder auch zur Interessengemeinschaft EB und klinische Zentren, an die sich Betroffene wenden können.

Epidermolysis bullosa bezeichnet eine seltene Erkrankung der Haut, die genetisch bedingt ist und oft von Geburt an auftritt. In Deutschland leben geschätzt etwa 4.700 Betroffene. Epidermolysis bullosa oder kurz EB kommt aus dem Lateinischen und steht für eine blasenförmige Ablösung und Erosionen an Haut oder Schleimhäuten nach (geringer) mechanischer Belastung. Rund eines von 20.000 neugeborenen Babys wird mit EB geboren. Kinder mit EB werden auch als „Schmetterlingskinder“ bezeichnet, weil „ihre Haut so verletzlich ist wie die Flügel eines Schmetterlings.“ In diesem Podcast berichten Frau Prof. Dr. med. Cristina Has und Herr Prof. Dr. Tobias Hirsch eindrucksvoll von ihren Erfahrungen aus ihrer täglichen Praxis. Diese Erkrankung kann in ganz verschiedenen Formen und Schweregraden auftreten und muss entsprechend individuell diagnostiziert und therapiert werden. Erfahren Sie mehr über dieses Krankheitsbild, die konservative Therapie sowie einen wissenschaftlichen gentherapeutischen Ansatz anhand eines Fallbeispieles. Erhalten Sie praktische Tipps zur Wundversorgung, zu Studiendaten oder auch zur Interessengemeinschaft EB und klinische Zentren, an die sich Betroffene wenden können. Das gesamte Gespräch, geführt von Antje Thiel, finden sie als Bonusfolge im Podcast-Feed.

Heather Fullmer will never forget seeing her nursing license for the first time and realizing the date of issuance was the same as her son Michael's birthday.  She had spent the week since delivering him in the NICU as Michael's struggle with the rare, life-limiting skin disorder Epidermolysis Bullosa began. “It was a surreal moment. I became a nurse professionally, and in my personal life on the exact same day,” she tells host Shiv Gaglani.  EB is a pernicious disease which causes skin to tear at the slightest touch, with resulting wounds that don't heal. “If I had to sum up Michael's day,” says her husband, Ryan Fullmer, “it's probably fear and pain. We still haven't been desensitized to his screams, or the disappointment on his face from not being able to enjoy the day-to-day things that he sees his friends do.” In this inspiring episode of Raise the Line, you'll learn how the Fullmers rose above their all-consuming struggles to care for Michael to forge a new approach to rare disease research with the support of Pearl Jam singer Eddie Vedder and his wife, Jill. The resulting EB Research Partnership raises millions of dollars a year to fuel promising efforts to find a cure for EB and, ultimately, other rare diseases. Tune in to learn how the “venture philanthropy” model they use differs from typical investing, and hear about important fundraising events for EB including Venture Into Cures hosted by Spiderman actor Tom Holland. And be sure to stay tuned to hear their advice to medical providers on the importance of building rapport with patient families, and taking an interdisciplinary approach to treating rare disorders. Mentioned in this episode:https://www.ebresearch.org/founders.htmlhttps://www.ebresearch.org/our-mission.htmlhttps://www.ebresearch.org/venture-into-cures.htmlMikey's World video

Imagine 60% of your skin having open wounds every day. That's the grim reality of those with Epidermolysis Bullosa, or EB, a rare genetic connective tissue disorder which results in blisters and tears to the skin being created from even minor contact or friction. The range of complications this causes for almost every normal activity – from eating to bathing to sleeping – is daunting, leading our guest today, Brett Kopelan, to call EB “the worst disease you've never heard of.”  He should know. Brett and his wife have the equivalent of fulltime jobs just managing daily care for their daughter Rafi, who suffers from a severe form of EB.  Advocating for Rafi led to Brett becoming Executive Director of debra of America, the only national not-for-profit providing all-inclusive support for patients battling the disease.  In this revealing discussion with host Shiv Gaglani, Brett opens up about his frustrations with the health insurance system, the challenges of raising money for rare diseases, and why he feels there is a need for more doctors to specialize in rare disorders for patients over twenty-three.  Brett shares some positive news as well about several promising gene therapies on the horizon. “I can say that the past two years has really been the first time that I've felt I'm working for my child's life, not for beyond her. So that's an exciting thing.”Mentioned in this episode: https://www.debra.org

On this edition of TMWS, I am talking with Sylvia Corradin about her son, Nicky, and his valent battle with EB. Sylvia shares her personal experiences as she watched her son struggle with this rare disease. Listen and share.

On this MADM, Sylvia Corradin is sharing about her son Nicky's battle with epidermolysis bullosa and her struggle to find relief for him. I hope you will listen and share this segment with others and help them have a better understanding of this rare disease. Sponsor: Athens Bible School AthensBible.com

Today's episode is a very tender story about loss, and while it might tug at your heartstrings, it's also an incredibly inspiring story about finding joy and hope within grief. Only three short days after taking her very first child home, Heather Earl noticed a devastating rash on her little newborn, Shealyn. After rushing to the doctor, getting redirected to the children's ER, and having to wait two agonizing weeks for a diagnosis, her worst nightmare came true. Shealyn was diagnosed with a rare condition called Epidermolysis Bullosa, which causes fragile, blistering skin and can be fatal. Babies with this condition have skin “as fragile as butterfly wings,” and a simple dressing change can take hours. Only 5 short months later, Shealyn sadly passed away on Thanksgiving day. After Shealyn's passing, Heather gave birth to three more babies; her third child, Shelby, was tragically born with the same condition and passed at 6 months old. Through so much heartbreak and grief, Heather's story has turned into an inspiring tale of the power of faith, hope, and acts of service. I'm so delighted to have Heather on the show as she shares empowering advice on navigating grief, processing emotional triggers, and adapting to a “new normal.” By giving back through acts of kindness, community service, and starting Pajama Pages-a nonprofit for children in hospitals-Heather found an incredibly healthy channel for her grief which has become a source of joy for everyone whose life she has touched. I hope you'll get a lot of value out of this episode and discover the power of being present, choosing joy, finding abundance, and living in a state of empathy and understanding, even in times of hardship. Key Takeaways with Heather Earl The importance of having a support system, whether that is a spouse, parent, or friend. Leaning on faith to stay hopeful and strong in order to advocate for your children. How to adapt to the “new normal” of everyday life with a sick child. Processing emotional triggers and learning to navigate them. Parenting through times of grief and emotional distress. Healing through acts of kindness/service to others. Living with an empathy state of mind (choosing joy over anger) Show Notes: Get Full Access to the Show Notes by visiting: MatteasJoy.org/33. Rate & Review If you enjoyed today's episode of The Joy In The Journey, hit the subscribe button on Apple Podcasts, Spotify, Stitcher, or wherever you listen, so future episodes are automatically downloaded directly to your device. You can also help by providing an honest rating & review over on Apple Podcasts. Reviews go a long way in helping us build awareness so that we can impact even more people. THANK YOU!

ONCE UPON A GENE - EPISODE 141 A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa Laura Dellicker is a hardworking mom who adopted a little boy named Salim four years ago. Salim has a rare disease called Epidermolysis Bullosa (EB). Laura shares her story of rare disease adoption and what inspired her decision. EPISODE HIGHLIGHTS Can you tell us about Salim? My son Salim is 7 years old and he has two unrelated genetic conditions. I adopted Salim from India four years ago and I was aware of his primary diagnosis of Epidermolysis Bullosa, which means his skin doesn't adhere to his body.  What was your motivation to adopt Salim despite his rare disease? I knew I wanted to adopt a child with EB after being involved in the ED world for 10 years prior after my friend's son was born with EB. Moreso, I knew Salim was my son and he just happened to be born on the other side of the world and I just did what I had to do to bring him home.  Where have you found support and community? There is a wonderful adoptive community and I have a lot of friends who have adopted kids from India. We've managed to even stay in touch with some of Salim's friends from India. I do sometimes feel a little out of place because there's no one in the adoptive community with either of Salim's genetic conditions, and I've not found another parent who has adopted as a single parent in the rare disease community.  What wisdom do you have for others considering adopting a child with medical complexities? Kids can look terrifying on paper, but they're so worth it. They mostly need love and family. It's worth it in the joy they have in experiencing the world. This isn't an easy road, but it's worth it and will force you to re-evaluate things and not take things for granted. LINKS & RESOURCES MENTIONED Effisode 050 - Global Genes RARE Disease Patient Advocacy Summit https://effieparks.com/podcast/effisode-050-global-genes-rare-disease-patient-advocacy-summit Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ @teamsupersalim on Instagram https://www.instagram.com/teamsupersalim/ 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/ Once Upon a Gene TV https://www.thedisordercollection.com/

Juan Roman, Vice President at Krystal Biotech, gives an overview of dystrophic epidermolysis bullosa (DEB).As Mr. Roman explains, DEB is one of the major forms of epidermolysis bullosa, a group of genetic skin diseases that cause the skin to blister and erode very easily. The signs and symptoms of DEB vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by mutations in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease. Currently, there are no approved targeted treatments for DEB, but Krystal Biotech announced positive topline results in November 2021 from the phase 3 GEM-3 study using redosable gene therapy, beremagene geperpavec (Vyjuvek), in DEB patients.

Episode 97 is one to remember. As we enter Masters week, the boys on the PuckPod are extremely proud to welcome James Duthie to the show. James joins the show to talk about Tiger's chances at Augusta, covering the Masters tournament for a decade, witnessing Tiger's incredible 2019 win, who's the best and worst golfer at TSN, and what it's like to play Augusta National with Top Flights from Walmart. James also gets an opportunity to remember a dear friend, Jonathan Pitre who passed away four years ago today, after a lengthy battle with Epidermolysis Bullosa. James sheds some light on the powerful TSN feature The Butterfly Child and spoke about the impact that Jonathan had on his personal life. We learn that James and his family have done some amazing sponsorship work with Children Believe, a charity where he serves as an ambassador. Some really great stuff. Before we let him go, James offers his thoughts on the Leafs, if he thinks they can win a round or not, and promises Coley a spot in the electric foursome. Thanks again James, until next time!

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Brady is a five-year-old who is living with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin condition. His mother, Eileen, describes what it was like to discover that Brady has RDEB and tells us how she is both the mother of a brave, happy little boy and the nurse who causes him pain during his daily wound care. RDEB has changed their lives. Sanuj Ravindran, M.D., executive chairman of BridgeBio's Phoenix Tissue Repair, joins the conversation to talk about the condition and explain how EB affects the body internally and externally.

In this PeDRA webinar, sponsored by Amryt Pharma, Dr. John Browning and Dr. Lara Wine-Lee present new information on epidermolysis bullosa research, as well as answer audience questions. To watch this webinar, please https://youtu.be/pGM9hXQ6c9g (click here). For more educational programming please visit: www.pedraresearch.org/education

Claudia Scanlon shares her story of living with epidermolysis bullosa and the support from charity DEBRA Ireland, ahead of the awareness week for the skin condition.

Leisha chats with her friend Alison who has the rare disease EB about what it is like to live with the worst disease you have never heard of.  Find out more at: debra.org.au  #debraaustralia #ebawareness #ebawarenessweek #disease #rarediseases #australia #epidermolysisbullosa #eb    See omnystudio.com/listener for privacy information.

Ep 145 – Butterfly Disease: “I Have a Client Who . . .” Pathology Conversations with Ruth Werner Epidermolysis bullosa (EB): this genetic skin condition is sometimes called butterfly disease, because the skin of affected people is so delicate. So when a client with EB, plus fibromyalgia, plus blood thinner use asks for “very deep work”, what do we do?   Sponsors:     Anatomy Trains: www.anatomytrains.com      Books of Discovery: www.booksofdiscovery.com       Host Bio:                    Ruth Werner is a former massage therapist, a writer, and an NCBTMB-approved continuing education provider. She wrote A Massage Therapist's Guide to Pathology, now in its seventh edition, which is used in massage schools worldwide. Werner is also a long-time Massage & Bodywork columnist, most notably of the Pathology Perspectives column. Werner is also ABMP's partner on Pocket Pathology, a web-based app and quick reference program that puts key information for nearly 200 common pathologies at your fingertips. Werner's books are available at www.booksofdiscovery.com. And more information about her is available at www.ruthwerner.com.                                     Recent Articles by Ruth:                   “Pharmacology Basics for Massage Therapists,” Massage & Bodywork magazine, July/August 2021, page 32, www.massageandbodyworkdigital.com/i/1384577-july-august-2021/34.       “Critical Thinking,” Massage & Bodywork magazine, May/June 2021, page 54, www.massageandbodyworkdigital.com/i/1358392-may-june-2021/56.         Check out ABMP's Pocket Pathology: www.abmp.com/abmp-pocket-pathology-app               Resources:   About EB | debra of America (no date). Available at: https://www.debra.org/about-eb?gclid=Cj0KCQjwvO2IBhCzARIsALw3ASozFxUG40gTcg2rI5rwJWdlzUkB7_OO0-9TUcTwReIb5DI22S3TBcQaAkNIEALw_wcB   ‘Epidermolysis Bullosa' (no date) NORD (National Organization for Rare Disorders). Available at: https://rarediseases.org/rare-diseases/epidermolysis-bullosa/   ‘Epidermolysis Bullosa: Background, Pathophysiology, Etiology' (2021a). Available at: https://emedicine.medscape.com/article/1062939-overview   What is EB? (no date) EB Research Partnership. Available at: https://www.ebresearch.org/what-is-eb.html   About our sponsors:   Anatomy Trains is a global leader in online anatomy education and also provides in-classroom certification programs for structural integration in the US, Canada, Australia, Europe, Japan, and China, as well as fresh-tissue cadaver dissection labs and weekend courses. The work of Anatomy Trains originated with founder Tom Myers, who mapped the human body into 13 myofascial meridians in his original book, currently in its fourth edition and translated into 12 languages. The principles of Anatomy Trains are used by osteopaths, physical therapists, bodyworkers, massage therapists, personal trainers, yoga, Pilates, Gyrotonics, and other body-minded manual therapists and movement professionals. Anatomy Trains inspires these practitioners to work with holistic anatomy in treating system-wide patterns to provide improved client outcomes in terms of structure and function.      Website: anatomytrains.com       Email: info@anatomytrains.com          Facebook: facebook.com/AnatomyTrains     Instagram: instagram.com/anatomytrainsofficial        YouTube: www.youtube.com/channel/UC2g6TOEFrX4b-CigknssKHA          

Please welcome to the show, Vani from DotUrMinds. Vani is a special needs mom, raising her daughter with Epidermolysis Bullosa, or EB, is a rare genetic connective tissue disorder that affects 1 out of every 20,000 births (in the United States - approximately 200 children a year are born with EB). Her daughter is now 19 years old, thriving, now in college at UCLA and was able to give her graduation speech at her High School graduation. Vani is also the founder of DotUrMinds and is here to tell us all about her journey, words of advice for parents and about her DotUrMinds sessions, bringing mindfulness and art together! In this episode, we cover so much ground:What is EB and when was your daughter diagnosed?  We talk about her journey with her daughter, when she was diagnosed with EB just a few days out of the womb.Her biggest challenges as a parent of a daughter with special needs. How Vani handled her emotions and mental health through her journey.We talk about self-care, when she realized it was important in order to care for her daughter. How she discovered dot art and how she came to become the founder of DotUrMinds. It's not just another art class - this is a mindful activity - retraining your brain, where you're focusing your time and where you focus your thoughts. You can only access your joy if you are intentionalSlow yourself down to observe and createRelaxes your brainHer biggest advice to parents is all around fear.  Don't let your own fear can get in the way of the progress of our own children. Give them the lane to move in - give them the room to make decisions and help them feel like they have control. Instill the fearlessness in her - it's a bargain and decisions to make - to experience life.  Mindfulness, being in the present and pushing through our own fears is why Vani is so special, an incredible mother, woman, entrepreneur who is impacting others in a very positive way. I'm so grateful I have been able to meet Vani and showcase her strength, compassion and innovation in mindfulness on my podcast.  Connect with Vani:Instagram: https://www.instagram.com/dot_ur_minds/Website: www.doturminds.comWatch this space for upcoming 6 week Mindfulness for Busy Special Needs Parents Workshop: www.flowcode.com/page/doturmindsConnect with her daughter Mahi Shiroor:Check out Mahi's youtube: https://www.youtube.com/playlist?list=UUauNofQo8aSr14Sf44GVIGQSupport the show (https://www.buymeacoffee.com/susanfink.rise)

My guest this week is Liz Trinnear, a TV host known to millions across Canada.  She is gorgeous, confident and talented and yet she has been suffering from a rare skin codition called Epidermolysis bullosa (EB).  Liz talks about growing up with the condition, the diagnosis and finding a cure.   We discuss bullying, oversharing and how she has found confidence through telling her story.   

When Corey's daughter Tilly Wilkes was born with Epidermolysis Bullosa (EB) in 2011, it turned his world upside down. The Wilkes family had never heard of the words 'Epidermolysis Bullosa' and to learn of the painful and cruel life their daughter was about to face was devastating. Once they adjusted to taking care of Tilly and learning to bathe and bandage their newborn's open wounds, they accepted the fact that Tilly's condition wasn't curable, and they were inspired to create awareness amongst their wide network. Corey made a promise to his little girl ,that he will one day find a cure for her. The Wilkes family established the Cotton Ball, a large biennial Gala event to raise funds for EB. The events were so successful it fuelled their determination to cure their daughter and all EB sufferers. In 2016, the family with some close friends, established their own not-for-profit to raise significant funds to invest into science and medical research that will lead to a cure for Epidermolysis Bullosa. The EB Research Foundation was born and last week announced they have united with EB Research Partnership USA to become the largest global organization focused on funding research to discover treatments and cures for Epidermolysis Bullosa (EB), a group of devastating and life-threatening genetic disorders that affect individuals from birth. Our shared mission to find treatments and cures for EB will be better served by uniting our organizations and driving research further to cure EB as quickly and efficiently as possible and making Corey's promise to his little girl a reality.