Podcasts about Angelman syndrome

Balancing caregiving and career, Elizabeth Jalazo, M.D. traces how her daughter Evelyn's early feeding challenges and later diagnosis of Angelman syndrome reshape her priorities and professional path. Jalazo describes barriers many families face in rare-disease diagnosis, including a “wait and see” approach, specialist access, and insurance denials, and she emphasizes the value of answers for community, care planning, and research access. At UNC Chapel Hill, Jalazo works as a pediatric geneticist and clinical trialist studying interventional therapies for neurodevelopmental and lysosomal storage disorders, and she serves as chief medical officer of the Angelman Syndrome Foundation. She also leads work on Early Check, an opt-in newborn sequencing program in North Carolina, and shares practical lessons about protecting sleep, building support, and saying no while holding space for hope and joy Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Show ID: 41173]

Balancing caregiving and career, Elizabeth Jalazo, M.D. traces how her daughter Evelyn's early feeding challenges and later diagnosis of Angelman syndrome reshape her priorities and professional path. Jalazo describes barriers many families face in rare-disease diagnosis, including a “wait and see” approach, specialist access, and insurance denials, and she emphasizes the value of answers for community, care planning, and research access. At UNC Chapel Hill, Jalazo works as a pediatric geneticist and clinical trialist studying interventional therapies for neurodevelopmental and lysosomal storage disorders, and she serves as chief medical officer of the Angelman Syndrome Foundation. She also leads work on Early Check, an opt-in newborn sequencing program in North Carolina, and shares practical lessons about protecting sleep, building support, and saying no while holding space for hope and joy Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Show ID: 41173]

Balancing caregiving and career, Elizabeth Jalazo, M.D. traces how her daughter Evelyn's early feeding challenges and later diagnosis of Angelman syndrome reshape her priorities and professional path. Jalazo describes barriers many families face in rare-disease diagnosis, including a “wait and see” approach, specialist access, and insurance denials, and she emphasizes the value of answers for community, care planning, and research access. At UNC Chapel Hill, Jalazo works as a pediatric geneticist and clinical trialist studying interventional therapies for neurodevelopmental and lysosomal storage disorders, and she serves as chief medical officer of the Angelman Syndrome Foundation. She also leads work on Early Check, an opt-in newborn sequencing program in North Carolina, and shares practical lessons about protecting sleep, building support, and saying no while holding space for hope and joy Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Show ID: 41173]

Our guest this week is Christian Pache of Thousand Oaks, CA who is a seasoned financial service IT manager, Angelman Syndrome Foundation board member and father of two including one with Angelman Syndrome & Autism.Christian and his wife, Anna, have been married for 24 years and are the proud parents of twenty-year old twins: Chloe and Aidan, who has Angelman Syndrome and Autism.Born, raised and educated in Germany, Christian immigrated to the U.S. for work in NYC.  A number of years later he met Anna, married and they started their family.  Work opportuinteis took them across the country. Informed about Angelman Syndrome as the result of Aidan's diagnosis and with a deep passion for helping others and wanting to give back, the couple has been active within the Angelman Syndrome Foundation, where Christian now serves as a board member.  It's an uplifting story about family and service to others, all on this episode of the SFN Dad To Dad Podcast. Show LinksPhone – (917) 882-0562Email – cpache@gmail.comLinkedIn –  https://www.linkedin.com/in/christian-pache/Angelman Syndrome Foundation - https://angelman.org/  Foundation for Angelman Syndrome Therapeutics -  https://cureangelman.org/Special Fathers Network –SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 800+ SFN Mentor Fathers, who are raising kids with special needs, have said: “I wish there was something like this when we first received our child's diagnosis. I felt so isolated.  There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through.”SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA/videosPlease support the SFN. Click here to donate: https://21stcenturydads.org/donate/Special Fathers Network: https://21stcenturydads.org/  SFN Mastermind Group - https://21stcenturydads.org/sfn-mastermind-group/Special thanks to SFN Mentor Father, SFN Mastermind Group dad and 21CD board member Shane Madden for creating the SFN jingle on the front and back end of the podcast..

This episode covers Angelman syndrome.Written notes can be found at https://zerotofinals.com/paediatrics/genetics/angelman/Questions can be found at https://members.zerotofinals.com/Books can be found at https://zerotofinals.com/books/The audio in the episode was expertly edited by Harry Watchman.

Mark Reinfeld, Islands of Peace Mark Reinfeld is an award-winning author, chef, and parent advocate with over 25 years in wellness and education. Founder of Vegan Fusion and co-creator of the Islands of Peace framework, Mark blends compassion, creativity, and lived experience in his work He and his wide Ashley are parents to a child with Angelman Syndrome and are dedicated to supporting families navigating the complex, beautiful, and often overwhelming world of special needs parenting. More at https://www.ohanavitality.org/islands-of-peace.

Our guest this week is Mark Reinfeld of Boulder, CO who is an award-winning chef, best-selling author and authority on plant-based cuisine. He is also the father of two young boys, including one with Angelman SyndromeMark and his wife, Ashley Boudet, have been married for 10 years and are the proud parents of two boys: River (7) and Sage (9) who has Angelman Syndrome. With more than two decades of experience, Chef Mark has written several acclaimed cookbooks, including The 30-Minute Vegan series, and has been recognized as a leader in the vegan and conscious cooking space.  Mark is also founder of the Vegan Fusion Culinary Academy, where he trains the next generation of plant-based chefs.  His work emphasizes flavor, nutrition, and compassion, making him a sought-after speaker, consultant, and culinary instructor around the world.Mark also leads or co-leads two dads groups of fathers raising children with special needs and is the author of the forthcoming book entitled: Islands Of Peace: Navigating The World Of Special Needs Parenting.We'll hear Mark's story on this episode of the SFN Dad to Dad Podcast.Show Notes - Phone – 808-652-5904 Email – info@chefmarkreinfeld.com LinkedIn –  https://www.linkedin.com/in/mark-reinfeld-6921344/ Website - https://www.chefmarkreinfeld.com/ Website – https://www.ohanavitality.org/ Books – Healing The Vegan Way - https://tinyurl.com/vnauxsw7The Ultimate Age Defying Plan - https://tinyurl.com/h9b3u7u5Islands Of Peace: Navigating The World Of Special Needs ParentingSpecial Fathers Network -SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 800+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated.  There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA/videosPlease support the SFN. Click here to donate: https://21stcenturydads.org/donate/Special Fathers Network: https://21stcenturydads.org/  SFN Mastermind Group - https://21stcenturydads.org/sfn-mastermind-group/

Coordinator Ashley Weinberg discusses the ASF San Diego Walk.

Welcome to The Autism Dad Podcast! In this episode, I sit down with Jonathon Smith, a dedicated special needs dad, to discuss his parenting journey with a son diagnosed with Angelman Syndrome. Jonathon shares his family's story, their struggles, and the challenges they faced navigating life with a complex genetic disorder. Most inspiringly, he explains how these challenges led to the creation of Safe Place Bedding, a company dedicated to providing safe, comfortable sleeping solutions for special needs individuals. What You'll Learn in This Episode: - What is Angelman Syndrome?  Jonathon gives an overview of this rare genetic disorder, including symptoms like motor challenges, communication difficulties, and the prevalence of seizures. - Parenting a Child with Special Needs:  Insights into Jonathon's journey, from the long process of diagnosis to the emotional challenges of acceptance and caregiving for life. - Creating Safe Place Bedding:  How a family trip and a sleepless night led to the invention of Safe Place Bedding, a line of secure, portable, and at-home sleeping solutions for individuals with special needs. - Making Travel and Home Life Easier:  Discover the features of the travel bed and home bed solutions that provide safety and comfort, helping families enjoy peace of mind wherever they are. - Insurance Coverage and Accessibility:  Jonathon breaks down how families can work with Medicaid and private insurance to obtain these innovative beds, with support provided every step of the way. Why This Episode Matters: This heartfelt conversation highlights the power of resilience and creativity in the special needs community. Jonathon's journey emphasizes the importance of problem-solving and the impact of creating resources that help families facing similar challenges. Links & Resources: - Safe Place Bedding: Learn more about their travel and home bed solutions and how to apply for insurance coverage. Visit SafePlaceBedding.com - Contact Rob Gorski: Connect with me at theautismdad.com for more information about the podcast and resources for parents. Help Spread the Word! If you enjoyed this episode, please consider leaving a review on Apple Podcasts, Spotify, or wherever you listen. Your feedback helps other families find this valuable resource. Don't forget to share this episode with anyone who might benefit from Jonathon's story and Safe Place Bedding. Thank you for your continued support, and I'll see you in the next episode! This Week's Sponsors: Circle Care Services Circle Care Services offers personalized ABA therapy for children with autism in New Jersey and Georgia, providing support at home, in daycares, or clinics. Their skilled team partners with parents to build confidence and unlock each child's potential. Visit circlecareservices.com or call (877) 460-1104. Grokkoli Hey parents! Is your child struggling with math? Meet Grokkoli, an AI tutor that helps kids progress multiple grade levels in months. Grokkoli identifies where your child struggles, meets them at their level, and is effective even for kids with learning disabilities, ensuring they get the support they need. Currently supporting K-5 math, Grokkoli is expanding to grow with your child, making it a great alternative to human tutors at a lower cost. Try Grokkoli free for 7 days! Visit grokkoli.com and use code “theautismdad” for 50% off your first month.

Short and to the point this week: Disabled adults are adults. Full stop.Support the showJoin the Mailing List: Subscribe NowApply to be a guest: Guest ApplicationBad Attitudes Shop: badattitudesshop.etsy.comBecome a Member: ko-fi.com/badattitudespod Email badattitudespod@gmail.comFollow @badattitudespod on Instagram, Facebook, and TwitterAll available platforms hereWatch my TEDx talkBe sure to leave a rating or review wherever you listen!FairyNerdy: https://linktr.ee/fairynerdy

Remi Matheson is a beautiful 8-year-old Owasso girl with a rare genetic mutation called Angelman Syndrome. Remi's parents, Chrysti and Derek Matheson host an annual golf tournament, called the Remi Cup to help raise money for Angelman Syndrome research. The Mathesons talk about the characteristics and early signs of the disorder and tell us all about their little firecracker, Remi. To donate to Angelman Syndrome research and to learn more, visit Remicup.com

This is part of a special series of interviews within the SFN Dad To Dad Podcasts known as the SFN Mastermind Group Monday Podcasts.  Each Monday host David Hirsch interviews one of the SFN Mastermind Group dads on the impact the mastermind group has had on him and the wellbeing of his family.  This Monday's guest is Nathan Woerner of Littleton, CO who is a former missionary in Japan with SEND International and father of two girls including one with Angelman Syndrome. Nathan and his wife, Maryah, have been married for 17 years and are the proud parents of two girls: Naomi (8) and Ada (6), who has Angelman Syndrome.Nathan has been involved with the Special Fathers Network for more than four years.  His SFN Dad To Dad Podcast, episode #114, aired in September 2020.   He was one of the first members of the Tuesday night SFN Mastermind Group and he has attended the last few Mastermind Group weekend retreats.  It's an uplifting conversation about perseverance, overcoming life's challenges and advocacy, all on this episode of the SFN Dad to Dad Podcast.Show Notes - Phone – (615) 521-0600Email – nwoerner@gmail.comLinkedIn - https://www.linkedin.com/in/nathan-woerner-0244b6b/SFN Dad To Dad Podcast #114 - https://21stcenturydads.org/114-send-international-missionary-nathan-woerner-and-his-daughter-with-angelman-syndrome/Favorite Mastermind Group Books – Thinking In Pictures, By Temple Grandin - https://tinyurl.com/y9j5ej6mAbout the SFN Mastermind Group –WHAT- SFN Mastermind Group dads meet weekly by Zoom for 75 minutes. Each meeting:◦            starts with a round of wins from the past week,◦            includes a discussion of the current book (6 per year) being reviewed,◦            has two Dad-In-The-Middle sessions for dads to share a challenge, and◦            ends with a recap and look at the week ahead. WHO - SFN Mastermind Group Dads are those:◦            seeking meaningful friendships with like-minded dads,◦            willing to invest their time and make a financial commitment,◦            looking for a safe place to be open and authentic, and◦            who realize seeking advice is a strength, not a weakness.  WHY - SFN Mastermind Group Dads benefit by:◦            realizing they are NOT alone◦            having better relationships with their spouse,◦            developing improved understandings of their child(ren),◦            tapping into the experience and wisdom of others,◦            getting weekly encouragement from like-minded dads, and◦            creating a pathway to become the best version of themselves21st Century Dads Foundation is looking to provide 100 special needs fathers with the opportunity to be part of the class of 2024 Mastermind Group.   

This week, Chris interviews Caroline Woeber! Caroline is an SLP specializing in AAC at Children's Hospital Colorado, including working at their Angelman/Chromosome 15 Disorder clinic. Caroline shares all about supporting communication and AAC in the hospital environment, training parents and caregivers about AAC, identifying next steps when teaching people with Angelman syndrome to use AAC, and more!   Before the interview, Chris and Rachel answer a fascinating listener question about a complex communicator at their school whose parents want the student to use sign language instead of AAC. However, the school is pushing for AAC only. Chris and Rachel unpack this question, noting that it is often best for complex communicators to have multiple familiar communication modalities available.   Key Ideas this Episode:  

While living in a society that can sometimes seem overwhelmingly critical and exclusive, creating an atmosphere of inclusivity and acceptance is vital, especially for individuals with disabilities. For a parent to a child with special needs, balancing feelings of guilt, the challenges of self-care, and the importance of fostering acceptance can be difficult.    In this episode, host Annette Hines talks with Debi Arsenault about her experiences raising her son Carson, who has a clinical diagnosis of Angelman Syndrome. Debi opens up about the hurdles she's faced with state services, the advocacy work she's done for Carson, and how it's all impacted her family. She talks passionately about the need for inclusivity, understanding non-verbal communication, and the importance of educating others about disabilities. Debi's children's book, "The Magic of the Man with the Sunglasses," is a heartfelt story promoting kindness and acceptance, reminding us that everyone has their own unique "magic" to share with the world.   In this episode, you will hear: Ways to advocate for those with disabilities to get a proper diagnosis and find the right care and services What it means to recognize the unique value and "magic" in everyone How understanding and interpreting non-verbal communication is significant Learn the crucial role of support systems for parents and caregivers of children with disabilities Discover the emotional realities of parenting a child with disabilities Resources from this Episode: LinkedIn:  Deborah Arsenault Book: The Magic of the Man with the Sunglasses   Engage with us: Join our community: Circle of Care Visit:  https://annettehines.com Read Butterflies and Second Chances LinkedIn: @annette-hines-snc  Instagram: @parentingimpossible Facebook: @SpecialNeedsCompanies Twitter: @SpecialNeedsCo   Follow and Review: We'd love for you to follow us if you haven't yet. Click that purple '+' in the top right corner of your Apple Podcasts app. We'd love it even more if you could drop a review or 5-star rating over on Apple Podcasts. Simply select “Ratings and Reviews” and “Write a Review” then a quick line with your favorite part of the episode. It only takes a second and it helps spread the word about the podcast.

Hey Advocates! Welcome to another episode of the Commercial Claim Show! I'm thrilled to share this action-packed episode where we tackle storm damage in Katy, Texas, and Houston. We're hitting the ground running with a packed schedule of networking events, door-knocking, and meetings. In this episode, you'll see:

Rivky sits down with Menucha Cooper, Mendy's Mom. Mendy has Angelman Syndrome. Menucha shares what they noticed in their Mendy early on that led to a diagnosis, the decision to celebrate the child God has given them, why representation is important, and what to do when you're not sure what to say in front of a special needs child. Menucha Cooper is a proud mum of 5 incredible kids. Her 4th child Mendy has Angelman Syndrome a rare genetic condition. Together with her husband Reuvi, they are the youth directors at Chabad Malvern in Melbourne Australia. Menucha is extremely passionate about educating and spreading awareness on disability and inclusion and making sure the programs she runs are accessible for all. Menucha facilitates workshops for children and adults about inclusion, acceptance and how we can make a difference. Menucha runs Mum Le Mum a support group for fellow warrior mums who have children with disabilities. Menucha shares her journey through her social media platforms @magicalmendy in the hope to spread awareness, educate others about disabilities and most importantly for other parents to feel less isolated and alone. Click here to see the Impact Fashion collection of dresses. Click here to get an Impact Fashion Gift Card Click here to get the Am Yisrael Chai crewneck. Click here to join the Impact Fashion Whatsapp Status Click here to take a short survey about this podcast and get a 10% off coupon code as my thanks

One in 17 New Zealanders have what's termed as a rare disorder. March is the month to highlight their lives and struggles.

Mandy and Kate chat to Rachael, pea mum to a beautiful 5-year-old Robbie, and the Tasmanian representative for Angelman Syndrome Association Australia.Rachael shares the story of her pregnancy, moving to Hobart in preparation for Robbie's birth, time in the NICU, Robbie's surgery at only 9 days of age, and his diagnosis of the rare genetic disorder Angelman Syndrome. Rachael talks about adjusting to Robbie's medical complexities, feeling like the whole world had changed around her, experiencing the hard days of isolation, loneliness and comparison, but receiving some wonderful support from some amazing and insightful friends. Rachael connected online with other Angelman Syndrome parents and developed new and supportive friendships, leading to her role in the association. The Association provides support, information, education, networking, research promotion and advocacy for people and families affected by the syndrome. We also learn that Robbie is a gentle and beautiful boy, he loves holding hands and touching faces, he's patient and works incredibly hard at his therapies, he's a good big brother and and loves music! Thanks for sharing your story with us Rachael! For more information about the Angelman Syndrome Association Australia, visit their website or find them on Facebook and Instagram. You can also follow Robbie's story on Instagram too. Plus: Listen to our Spotify playlist –Too Peas: Songs Our Guest Peas LoveJoin our Facebook HangoutFind us on YouTubeBuy our book The Invisible Life Of Us!Leave us a speakpipe Help spread the love for Too Peas by rating and reviewing us!Melbourne forecast for Thursday February 29(!) - Cloudy, 25 degrees Hosted on Acast. See acast.com/privacy for more information.

Get your seatbelt on. Jenna is a vibrant mama to Josh. She is a badass with very little filter, especially when she talks about her life's #1 passion: fighting for her son's rights and well-being. Jenna has been through so much with her son's disorder, a rare neuro-genetic disorder that occurs in one in 15,000 live births. According to the Angelman Syndrome Foundation, “symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis occurs often.” Another common symptom, which we talk about in-depth, are seizures. They suck, they're scary, and they are a part of Jenna's reality as Josh's mama. We discuss an alternative form of medication that has changed everything for Josh and his seizures: CBD, a chemical found in marijuana. There's lots to unpack in this episode. Josh is an angel and so is his mom for sharing their story. FOLLOW JENNA https://www.instagram.com/jennuh_leann/ FOLLOW US https://www.instagram.com/realmotherfuckerspodcast/ https://www.youtube.com/@RealMoFosPodcast https://patreon.com/RealMotherFuckersPodcast DISCLAIMER This podcast has mature language and content. Moms ears only — don't have this one on with your kids in the room. These are our opinions and experiences as moms, take what you like, or leave it. Don't be thinking we're telling you what to do. Seek professionals, do your research, and call the experts for help. --- Support this podcast: https://podcasters.spotify.com/pod/show/realmotherfuckers/support

Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities. The Chairperson for The Angelman Network Ursula Christel's adult son has the syndrome. Ursula joins us...

Our guest this week is Adam Birchmeier of Muskegon, MI who is a Business Sales Representative with Access Health and the father of daughter with Angelman Syndrome, who very sadly passed away in August, after a brief illness.Adam and his wife, Nicole, have been married for 4 years and are the proud parents of Maddie who was born in June 2020, was diagnosed with Angelman Syndrome at 18 months and who, very sadly, passed away in August, shortly after her third birthday. We also learn about Maddie's Joy, the blog and podcast Adam created to reflect on the family's Angelman Syndrome journey. Most touchingly, on the Spetember 15, 2023 podcast, Adam read the eulogy he gave Maddie at her funeral. While Maddie's passing is very sad, Adam and Nicole find some solice in knowing that Maddie had (and countinues to have) a positive impact in the lives of others, depsite her short presence on this earth. We'll hear all about Maddie, her smile and how her infectious spirit lives on. That's all on this Special Fathers Network Dad to Dad Podcast.Show Links: Email – maddiesjoy2020@gmail.comWebsite - https://www.maddiesjoy.com/LinkedIn – https://www.linkedin.com/in/adam-birchmeier-48b5ab191/Podcast – September 15, 2023 – Maddie's Eulogy – https://podcasts.apple.com/us/podcast/episode-20-maddies-eulogy/id1650857579?i=1000627978534Blog – Day 366 - https://www.maddiesjoy.com/blog/day-366Blog – More Than A Diagnosis - https://www.maddiesjoy.com/blog/more-than-a-diagnosisUSA Today Story September 14, 2021 - https://news.yahoo.com/uncharted-territory-090314817.html?fr=sycsrp_catchall&guce_referrer=aHR0cHM6Ly93d3cubWFkZGllc2pveS5jb20v&guce_referrer_sig=AQAAAHxlXYTOqDCx68BHEdP-YBakgam3xEClnzek3IrQ97lKNsaIEbN93SfGkWizjZxzheruyy4XcxLVFzW0NyZf6hqOWRXIl4-9dRsk9HVWrkrh1c0vP8SPJMWdPw8Ko7IjvJ0pd7rju5VVMBVywOhxT_qXK6AeBPld6NHtKOIID-Sj&guccounter=2Angelman Syndrome Foundation – https://www.angelman.org/FAST - https://cureangelman.org/Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channe... Please support the SFN. Click here to donate: https://21stcenturydads.org/do...Special Fathers Network: https://21stcenturydads.org/SFN Dads Mastermind Group - https://21stcenturydads.org/sfn-mastermind-group/Discover more about the Dads Honor Ride 2023 - https://21stcenturydads.org/2023-dads-honor-ride/Find out about Horizon Therapeutics – Science and Compassion Working Together To Transform Lives. https://www.horizontherapeutics.com/4 days ago #dad, #daughter, #divorce, #down-syndrome, #father, #marriage, #non-verbal, #oak-harbor, #son, #teen-parent, #wa, #whidbey-island

In this episode, we review the high-yield topic of ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Angelman-Syndrome⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠from the Pediatrics section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets Linkedin: https://www.linkedin.com/company/medbullets

You all remember Episode 27 when I hosted Angie Kim for her Edgar Award winning debut, Miracle Creek. Well what a thrill to host Angie once again for her best-selling, GMA book of the month club choice, Happiness Falls! For this episode we go in depth to talk about Angelman Syndrome, non-verbal communication, flipping the … Continue reading E132: Interview with Angie Kim, author of Happiness Falls →

Shout out to my fingers... . I can count on all of them!! . Last Dad joke!! . This phenomenal human Issabele Popescu focuses on helping micro-businesses and single entrepreneurs achieve financial independence, freedom from working hard, gain recognition as an industry leader, and manage and grow your firm. . Issabele is an entrepreneur with degrees in both accounting and business management. She will assist you in formulating a mission statement and strategy to realise your company's potential. . This is going to be FIIIIIIIIRRRRRRRRRREEEEEEEEE . ******************************************* Contact Details: ISSABELE POPESCU ******************************************* ➡️ FB: https://www.facebook.com/issabele.popescu . ➡️ WEBSITE: https://www.ccanlp.com/ . ************************************************************* Thank you to everyone who has tuned in over the last 3 years and every single guest! Plus, everyone who took part in the 107 Podcasts in October 2021. A Huge Thank you to everyone involved in the 97 Mini-Masterclasses (July 2022) with 97 Coaches from around the world collaborating to raise money for Rett Syndrome and Angelman Syndrome. . A Special Thank you to Lawrence Lotze - Mate none of this would have been possible without you! . It's been fun, it's been insightful and I'm deeply grateful!! .

Hello and welcome to another episode of Rad Mom Radio!This week my guest is Anastascia, a local wife, mom, and college counselor. Anastascia has two sons, her youngest, Caleb, is a senior in high school and is diagnosed with Angelman Syndrome. In this episode we talked all about Angelman Syndrome, Anastascia's experience as Caleb's parent advocate in the school system, and what an inclusive classroom should be.Thank you so much for listening!

The effects of Angelman Syndrome (AS) on young children are debilitating. From an early age, they face an uphill battle with this neurogenetic disease's unrelenting symptoms, including seizures, cognitive impairments, and loss of motor function. It can also be tough on caretakers – just ask Dr. Allyson Berent and Jennifer Panagoulias. They both have personal connections to this disease, which in Dr. Berent's case led to her creating the Foundation for Angelman Syndrome Therapeutics (FAST) in 2008. Today, Panagoulias, whose niece has AS, serves as their head of Regulatory and Policy, tasked with the responsibility to find a path that will develop treatments to improve the quality of life for both patients and caregivers.  Join Jennifer as we discuss the origins of FAST, the science behind Angelman Syndrome, the crucial role outside partnerships have played in research, and what's in the pipeline for potential therapeutics.Show Notes  Foundation for Angelman Syndrome Therapeutics  ASOs Rescue Brain Rhythms, Sleep Patterns in Angelman Mouse Model  A Big Year for Angelman Syndrome  Antisense Therapies and Angelman's Syndrome  Unsilencing Quincy  The Quest to Cure Quincy  Development of Potential Outcome Measures for AS Clinical Trials – Angelman Syndrome Foundation   

The result raises hopes for an ongoing clinical trial in people — and offers fresh insight into the biology of imprinting and the UBE3A antisense transcript.

The result raises hopes for an ongoing clinical trial in people — and offers fresh insight into the biology of imprinting and the UBE3A antisense transcript.

Mandy and Kate chat with Emma Price, CEO and Founder of Source Kids, Australia's largest media and events organisation supporting parents, carers and professionals of children and young people living with a disability, and Source Mama, a community that supports mums raising children with special needs (AKA Peas). With a career in marketing management roles, Emma's direction changed when her daughter Charlotte was diagnosed with the rare condition Angelman Syndrome. Emma founded Source Kids as a resource to help others find relevant, reliable and up-to-date information in a positive and vibrant format. Source Kids currently delivers a printed and digital magazine four times each year, eMagazines, online and social media content and five expo events in Adelaide, Sydney, Melbourne, Brisbane and Perth, collectively reaching over 400,000 people every month. Emma also founded Source Mama to help celebrate mums and provide a support network and a safe space. Emma also shares tender stories of the life and passing of her daughter Charlotte, and the powerful impact and change she's made in the world by inspiring the founding of Source Kids and Source Mama. Thank you so much for sharing this precious story with us Emma. Find out more about Source Kids: Visit their website Find them on Facebook and Instagram Come along to their upcoming Source Kids Expos in Sydney, Melbourne, Brisbane and Perth and say hi to Emma! Find all the details via their website Discover Source Mama:Visit their websiteFind them on Facebook and Instagram Plus Listen to our Spotify playlist –Too Peas: Songs Our Guest Peas LoveMelbourne forecast for Thursday March 2 - Cloudy, 21 degrees Join our Facebook HangoutFind us on YouTubeHelp spread the love for Too Peas by rating and reviewing us!Leave us a speakpipe Thank you for supporting Too Peas In A Podcast! We love to hear from you, please contact us here: Website: www.toopeasinapodcast.com.auEmail: toopeaspodcast@gmail.com Hosted on Acast. See acast.com/privacy for more information.

Our guest this week is Christopher Brewster of Waverly NY. Chris and his wife, Kristen, have been married for six years and are the proud parents of three children: son Bowie (15) who has Angelman Syndrome, daughter Ada (17), and son Seth (26) who has Scleroderma, Short leg syndrome, Autism and more recently is undergoing gender transition.From a professional perspective, Chris is a Community Engagement Manager for the Food Bank of the Southern Tier (Elmira & Corning area). He also works part-time as the Fatherhood Coordinator for Parent to Parent of New York State, connecting fathers of children with special needs to information and to reach other dads. Chiris is also a writer and a public relations/marketing professional with extensive experience in writing, advertising and graphic design, including being a staff writer for Southern Tier Life, a digital lifestyle magazineWell hear Chris' story on this episode of the Special Fathers Network Dad to Dad Podcast.Show Links - Email – cbrewster@parenttoparentnys.orgLinkedIn – https://www.linkedin.com/in/chrisjbrewster/Parent 2 Parent - https://www.p2pusa.org/ASF - Angelman Syndrome Foundation https://www.angelman.org/FAST (Foundation for Angelman Syndrome Therapeutics) - https://cureangelman.org/Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations. Special Fathers Network: https://21stcenturydads.org/ab...Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channe... Please support the SFN. Click here to donate: https://21stcenturydads.org/do...

Megan Sharp left her 9-5 job to fulfill her passion for working with people living with Intellectual and physical disabilities. Her older sister Jessie, who is living with Angelman Syndrome helped guide her in living in the now. Follow Megan and This Ability Recreation below: Website Instagram

In December 2020, Ovid Therapeutics' experimental therapy OV101 for the rare, neurodevelopmental condition Angelman Syndrome failed to meet its primary endpoint in a phase 3 clinical trial and the company chose to discontinue development. But rather than let the data from the study languish on the shelf, Ovid made the decision to contribute it to the Angelman Syndrome Foundation's LADDER database. We spoke to Ovid CEO Jeremy Levin and Angelman Syndrome Foundation CEO Amanda Moore, about the LADDER database, Ovid's decision to contribute its data to it, and why the two believe other drug developers should take similar steps to share their data with patients and researchers to advance the understanding of rare diseases.

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap  Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present  PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/  SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA” NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path  8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler 11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:00-12:30 LUNCH 12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377  JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner  GENETIC THERAPY UPDATES #S10e80 https://youtu.be/xeo94GViXiw  :-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html :-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/“we are working to develop an ASO against PRNP as a therapy for prion disease… Overall, it's hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it. I don't believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.” SMA: THREE DRUGS!  BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/  Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist= Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt= CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball  This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - November 10, 2022  #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA” NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler 11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:00-12:30 LUNCH 12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner GENETIC THERAPY UPDATES #S10e80 https://youtu.be/xeo94GViXiw :-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html :-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/ “we are working to develop an ASO against PRNP as a therapy for prion disease… Overall, it's hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it. I don't believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.” SMA: THREE DRUGS! BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/ Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist= Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt= CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

This episode, we have two really interesting and very different interviews. Physician's Weekly speaks with our regular contributor, a registered physician and medical malpractice attorney, who goes by the alias Dr. MedLaw. We explore when and how it is appropriate for physicians to apologize… or not. But first, Princeton University Professor Rebecca Burdine, PhD, speaks about the value of modelling rare diseases. Dr. Burdine uses small zebrafish for her studies, and you would be amazed at how well these small fish can model diseases, and even be used in diagnostics. Dr. Burdine is also a caregiver to her daughter, who has the rare disease Angelman Syndrome, which Dr. Burdine just happens to study. She provides excellent insights into the value of studying rare diseases. Enjoy listening!Additional reading Willgoss T, Cassater D, Connor S, Krishnan ML, Miller MT, Dias-Barbosa C, Phillips D, McCormack J, Bird LM, Burdine RD, Claridge S, Bichell TJ. Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model. Child Psychiatry Hum Dev. 2021 Aug;52(4):654-668. Cheng KC, Burdine RD, Dickinson ME, Ekker SC, Lin AY, Lloyd KCK, Lutz CM, MacRae CA, Morrison JH, O'Connor DH, Postlethwait JH, Rogers CD, Sanchez S, Simpson JH, Talbot WS, Wallace DC, Weimer JM, Bellen HJ. Promoting validation and cross-phylogenetic integration in model organism research. Dis Model Mech. 2022 Sep 1;15(9):dmm049600.Bird LM, Ochoa-Lubinoff C, Tan WH, Heimer G, Melmed RD, Rakhit A, Visootsak J, During MJ, Holcroft C, Burdine RD, Kolevzon A, Thibert RL. The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome. Neurology. 2021 Feb 16;96(7):e1024-e1035. Patterson VL, Burdine RD. Swimming toward solutions: Using fish and frogs as models for understanding RASopathies. Birth Defects Res. 2020 Jun;112(10):749-765.

In this three part episode, we hear from parents of multiply disabled kids on their experiences of inclusion in the schools, collaborating with therapists, and AAC. This episode takes us back in time into the history of the disability rights movement in the US and then to the present day, with practical advice that should guide how we support multiply disabled Autistic clients. Our guests include Taina Moretti, whose son has Angelman Syndrome; Evie Jesperson, whose daughter is Autistic and has CP; and an anonymous caller.

This week, Carol and Jen revive an old segment, "Confession Corner" and one of Carol's monstrous belches reveals a "Cranberry" surprise. Are there some unintended benefits from the new Roe? Why are fish jumping down people's throats? Does Jen really have Angelman Syndrome? Be sure to check out our show notes and links at momswipesleft.com.

In this very special episode Sinead is joined by a mother of 2 Danielle Cullinan to talk about Angelman Syndrome - a very rare genetic disorder that her eldest daughter Clara was born with. In this episode she takes us on an extraordinary journey to a diagnosis, connecting with other families who have a child with Angelman Syndrome, how she had her husband both found different coping strategies and their decision to have another baby. We also talk about the realities of a severely disablied child in a society that isn't build to support them. From being told that Clara could no longer attend creche to the chance that there will not be a school place for her either - this episode shines a light on how a young family are trying to work, parent, love and seem to have to fight for what Clara needs at every turn.everymum the podcast is supported by WaterWipes, the world's purest baby wipes, made with only two ingredients, 99.9% purified water and a drop of fruit extract. WaterWipes is one of the most essential products for every mum from that first nappy change to those messy weaning months. Winners of seven National Parenting Product Awards 2021 including Best Baby Wipes, WaterWipes 100% biodegradable**, plastic free and compostable wipes and are proven to be purer than cotton wool and water making them ideal to protect and gently cleanse sensitive, newborn and even premature skin. As the number one wipe in Ireland* together we are committed to providing more support for parents with trusted products and this podcast.*No 1 Wipe in Ireland = *Based on value sales for the 52 weeks ending 10th October 2021. Source: A.C. Nielsen ROI Scantrack sales*Biodegradable - **Within 4 weeks in an industrial setting/plant in accordance with EN13432. Wipe material. See acast.com/privacy for privacy and opt-out information.

Jessica Rolph is joined by Dr. Kate Barret and Dr. Terry Jo Bichell to bring listeners the story behind “Uncle Rob's Pizza Party,” a Lovevery book about a toddler's relationship with a man with Angelman Syndrome.   Lovevery's Senior Advisor of Equity and Inclusion, Nicole Stamp, guides the conversation. This episode challenges some of the norms around how we discuss neurodiversity, particularly with our children.   Key Takeaways: [2:15] Jessica explains why Uncle Rob's Pizza Party has a special place in her heart. [3:05] Jessica and Kate share how this book came to fruition. [5:36] The sisters look back at their childhood growing up together with Rob and share interactions with other children around Rob's condition, and why a book like this would have been helpful. [7:13] Jessica and Kate talk about the process of actually creating the book. [9:19] Jessica talks about the photoshoot for the book, which became her favorite day ever at work.  [10:47] Terry Jo shares her experience with Angelman syndrome. [12:03] Terry Jo talks about the relationship between her son Lou, diagnosed with Angelman, and his nephew, Elio. [15:52] Terry Jo shares what is important for a family to know If a child is showing any traits that could be markers of Angelman syndrome or any other cognitive diagnoses. [17:51] Kate, from her background in occupational therapy, shares her advice for families who think that maybe their child is exhibiting behaviors that might be associated with some kind of diagnosis.   Mentioned in this episode: Brought to you by Lovevery.com Angelman.org Cure Angelman Combined Brain Receive weekly emails about your child's development, and stay in the know about new play essentials, promos, and more by signing up at Lovevery.com Follow Lovevery and Jessica Rolph on Instagram. 

God has not promised that we will have an easy life, but He has promised that He will never leave us and will always provide, and care for us. Today, Kim describes the challenges that she faces caring for her daughter with Angelman Syndrome and the DAILY decision to cast all her burdens on the Lord who has, is, and always will sustain her.

Raising awareness for rare diseases, such as Angelman Syndrome, should not be something parents, patients, and advocates have to do alone. Today's episode of Few & Far Between features Dr. Terry Jo Bichell, Founder and Director of COMBINEDBrain. Biroasi CEO, Chirs O'Brien, is your host for this discussion on biomarkers, treatment, and the rise in community collaboration across rare diseases.

We got the opportunity to catch up with Bryce and hear where he is in his career and updated us on their four children. We got to dive in and talk about his oldest son, Cooper who has Angelman Syndrome and talk about his sweet personality traits that makes him so special and fun. Bryce also gave our “young” alumni men some great life advice for moving forward into their career. You won't want to miss this awesome episode!

November is National Family Caregiver month. Did you know that One in five Wisconsinites (or 1.18M people) is estimated to be an unpaid caregiver?  Wisconsin family caregivers provide more than 490 million unpaid hours of care annually to individuals with disabilities and older adults. 80 percent of all care is provided by families who help loved ones daily with meals, bathing and dressing, medications, doctor appointments and more. Today's guest is first and foremost Mom to Kelsey, who has Angelman Syndrome. Lisa has over 30 years' experience advocating for persons with disabilities and navigating the complicated support system, including for her own daughter.  She is also Executive Director of the Respite Care Association of Wisconsin.Respite Care Association of Wisconsin: https://respitecarewi.org/RCAW respite care provider registry: https://respitecarewi.org/registry/ Family Caregiver Month activities and resources: https://www.caregiver.org/news/celebrating-our-communities-caregivers/Wisconsin Family and Caregiver Support Alliance (WFACSA): https://wisconsincaregiver.org/alliance2021 Wisconsin Family Caregiver Month proclamation: https://arcwi.org/content/uploads/sites/17/2021/09/110121_Proclamation_Family-Caregiver-Month.pdfThank you CUNA Mutual Group Foundation The CUNA Mutual Group Foundation: Supporting the sustainable development of our communities.Support the show

After imposing a pause in November 2020, the U.S. Food and Drug Administration has cleared the way for a clinical trial of a gene therapy for Angelman syndrome.

Trent Henderson -- son of the late, great former A's outfielder Dave Henderson -- joins host Alex Espinoza on the G.O.A.P. We discuss the Always Having Fun Foundation, which Trent started with his wife to help promote awareness and find a cure for Angelman Syndrome. The genetic disorder affects 1 in 20,000 people, including Trent's brother, Chase. We look back on Always Having Fun Foundation's recent charity golf tournament, the life and career of Trent's beloved father, Hendu, the family's special connection with A's fans and more.

Kendra Garding is a mom to 3 boys! Her oldest son, Ben Garding, has Angelman Syndrome. Kendra talks about her journey to find a diagnosis for Ben and what life has been like since then. Kendra gives advice on how to support a parent or friend who is parenting a child with a disability. She also gives insights on her experiences with public education for her son who has Angelman Syndrome. It is my hope that sharing different parent's experiences and perspectives lets you know you aren't alone in this parenting journey. Find out more about Angelman Syndrome and donate to their charity here: https://www.angelman.org/make-an-impact/ways-to-donate/ Shop Baby Burp Shop USE CODE TWIN15 for 15% off total order https://www.etsy.com/shop/BabyBurpShop?ref=shop_sugg&fbclid=IwAR03QhOHiUT_ol5hlUi0Dj9VwvzvHjHCU5e1YGk2dXAqCorahO3fKNWOZeE To be a guest on the show head to NeighborhoodTwinMom.Com and fill out the "Be our Guest" form Follow Amber on Instagram @NeighborhoodTwinMom Inquires for Neighborhood Twin Mom, email Contact@neighborhoodtwinmom.com

Actor Colin Farrell recently filed for conservatorship of his teenage son with Angelman Syndrome. We connect with Dr. Michelle Sirak to talk about what Angelman Syndrome is and if a conservatorship is the right move for this family.

"You matter just as much as your child." Jess chats with Annie, aka “blessedforthismess” a mom to two kids, Ava & Brody. Her daughter Ava was diagnosed with Angelman syndrome in 2014 which led to Annie's belief that we need to teach our kids that they are undefined by their circumstances. Annie is also passionate about advocating for the advocators & sharing the depths of her heart through her own journey as a mother to a child with a disability. Her motto is that “you are more than the circumstances that surround you.” To learn more, find Annie at www.blessedforthismess.com. To purchase my book Sunlight Burning at Midnight https://amzn.to/37oRyop To stay connected with Jess head to www.jessplusthemess.com. I'd love to hear what you think, so please rate and review! If you are interested in being a guest please contact me at jess@thelucasproject.org --- Support this podcast: https://anchor.fm/jess-ronne/support

This episode covers Angelman syndrome.Written notes can be found at https://zerotofinals.com/paediatrics/genetics/angelman/ or in the genetics section in the Zero to Finals paediatrics book.The audio in the episode was expertly edited by Harry Watchman.

In this week's episode, Dr. Pratt, ND talks about her passion for treating pediatric neurological conditions. We talk about the in-depth lab testing she uses to manage symptoms in children with Autism Spectrum Disorders, Angelman Syndrome and Osteogenesis Imperfecta. We get into why it's important to clear toxic burdens, heal the microbiome, and support the liver with these diagnoses. Dr. Pratt also uses Crossinology Brain Integration Technique to optimize brain function in the pediatric population.    - If you liked this episode of the Naturopathic Times Podcast, share it with someone you know!  Comment, rate, review, and subscribe to the show on iTunes, Spotify, or Podbean. Interested in learning more about us? Visit www.naturopathictimes.wordpress.com to sign up for our newsletter. Follow us on Instagram @Naturopathic.Times, like us on Facebook. You can also email us at naturopathictimes@gmail.com with your questions, comments, or feedback we would love to hear from you!