Podcasts about Angelman syndrome

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!! .

Today I had a wonderful conversation with Kristen Brewster. Kristen is an Reiki Practitioner and Animal Communicator. AND before we begin ... PLEASE LIKE - SHARE and SUBSCRIBE! This is our best way to get our content noticed by others so they can explore these ideas and learn through these beautiful, expanding, heart-centered teachers during this challenging time on our planet. On todays episode, Kristen and I discuss how she came to be an animal communicator. She talks about how she communicates with animals, plants and trees, what they say and even how some animals come to her in her dreams for healing energy. Kristen also talks about her non-verbal son with Angolan Syndrome and how that has shifted her consciousness. If you would like more information about the services that Kristen offers you can find her on Facebook at https://www.facebook.com/WildflowerRe... If you enjoy this content, please consider a donation to https://www.paypal.me/lindachristine11 to assist in off setting our costs so we can continue to provide everyone with free content. Again, PLEASE like, share and SUBSCRIBE to help spread the word about these amazing humans and their beautiful stories. Deep soul love, Linda Christine    Open and closing music channeled by Ernestine Day https://soulfulguitarist.comr the soul

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.

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 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

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

Madaan M, Mendez MD. Angelman Syndrome. [Updated 2022 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560870 --- Send in a voice message: https://anchor.fm/las-poderosas-celulas-nk/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.

Common genetic problems including Angelman Syndrome and Huntington's Disease, and intro to pharmacology including history of pharmacology and the conventional naming of medications.

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.

Our guest this week is Leonard Boston of Kalamazoo, MI, a retired U.S. Navy Chief Petty Officer, real estate agent, board member of Parent To Parent (P2P) USA, and father of four, including a daughter with Angelman Syndrome. Lenn and his wife, LaTrieva, have been married for 13 years and are the proud parents of four children: Kenyana (31), Ashante (28), Maleek (26) and Chloe(11), who was diagnosed with Angelman Syndrome, a genetic disorder that mainly effects the nervous system. After serving 20 years in the Navy, Lenn became a real estate agent and also serves on the board of Parent To Parent (P2P) USA, a national non-profit that empowers and supports parents raising children with special needs. Lenn is also active on a local level with The Family Center For Children And Youth With Special Health Care Needs, a statewide parent-directed center within Children's Special Health Care Services and the Michigan Department of Health and Human Services.It's an uplifting and inspiring story about a blended family whose young daughter with special needs has inspired them to advocate for greater parental involvement on a local and national basis. We hear the Boston family story including how they strive to push Chloe to walk and be as strong as she can. That's all on this Special Fathers Network Dad to Dad Podcast. Show Links:FAST (Foundation For Angelman Syndrome Therapeutics) - https://cureangelman.orgAngelman Syndrome Foundation – https://www.angelman.org Parent To Parent (P2P) USA – https://www.p2pusa.orgFamily Center for Children - https://www.michigan.gov/mdhhs/0,5885,7-339-71547_35698-56603--,00.html Woods Edge Learning Center https://www.kresa.org/woodsedgeSpecial 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/about-the-special-fathers-network/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 Please support the SFN. Click here to donate: https://21stcenturydads.org/donate/

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!

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. The post Paused Angelman syndrome trial to restart appeared first on Spectrum | Autism Research News.

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

WOW Dr. Bill Johncock is just incredible! Bill is a podiatrist in Hickory, North Carolina, and a father of three, including Logan, who is 23 and was born with Angelman Syndrome. Bill, who is 57 and a six-time Boston Marathoner, shares how he ran his first Boston Marathon at age 19 with his then 55 year-old father and then went on to run over 100 marathons. When Bill learned that his son, Logan, would not be able to reach the same milestones as his other kids, Bill decided to create new milestones for Logan and began racing with Logan by pushing him in a customized racing wheelchair. After meeting Dick and Rick Hoyt at the race expo at the 2005 Boston Marathon, Bill was inspired to qualify for Boston with Logan as a duo team. Bill shares his 16-year journey toward qualifying for Boston with Logan (yes even duo teams like Bill and Logan need to meet the Boston qualifying standards) and then experiencing the long awaited joy of finally reaching the start line as one of only thirteen duo team participants at the 2021 Boston Marathon. Listen with some tissues nearby. Notes: Bill shares how Ainsley's Angels (Ainsleysangels.org), which ensures inclusion in endurance events, helped him and Logan get to the start line. Bill and Logan's instagram: https://www.instagram.com/dynamicdu_o/ More about Bill: https://www.charlotteobserver.com/sports/other-sports/article254828477.html Thanks to our sponsor, RunMitts--use the code RFFR10 for 10 percent off any order--and Soupergirl--use the code RUN20 for 20 percent off. If you enjoy our tips, check out our coaching services. We provide individualized coaching for runners of all levels and have been doing so successfully for over 11 years. Head over to https://www.runfartherandfaster.com/programs/virtual-coaching/ to check out our services or send us an email at julieandlisa@runfartherandfaster.com. Don't forget to follow us on Instagram (www.instagram.com/runfartherandfaster) and Facebook (www.facebook.com/runfartherfaster). Check us out on Twitter at @Runfartherfast. Leave us a five star review on Apple Podcasts. Thanks for listening! --- Send in a voice message: https://anchor.fm/runfartherandfaster/message

Ursula Christel has 3 sons. In 1998 her middle son was diagnosed with Angelman Syndrome, a rare condition that affects 1:15,000 people. As life got busy, so did Ursula. She co-founded The Angelman Network, a NZ based registered charity that shares up-to-date information about Angelman Syndrome and offers support to families in New Zealand. She attended as many disability related workshops as she could to help support her family and to continue to grow her work with The Angelman Network.Just before her son turned 18, an opportunity presented itself for her to create a PATH plan for him, in preparation for transitioning from school. This process created a vision that she could focus on and base any major decisions on. It helped her decide where she should relocate to, in order to realise the vision. Now in 2021 her son has moved into a house with friends and is living independently from Ursula,  with support, to ensure he continues a good life.Programme Synopsis Jo talks to her guest Ursula about the Enabling Good Lives principle of beginning early. They talk about the process that Ursula undertook to create a vision for her son's future that would ultimately create a 7-year plan for her son that would result in him living independently in a house nearby, with friends. They discuss the fact that by planning early for her son's future meant that she was able to make decisions easily, as she had a clear goal that they were heading towards.LinksAngelman NetworkRodney Inclusive CommunitiesImagine Better - Developing a Vision for the futureJane Bawden former Parent to Parent CEO video on her journeyParent to Parent New Zealand IncEnabling Good Lives principlesAltogether AutismCare Matters or 0508 236 236 freephone service for carersMana Whaikaha – MidCentral only

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.

StoryJumpers! Welcome to another episode of your favorite storytelling podcast! Are you ready to hear a great story? Of course – that's why you're a Story Jumper!Imagine not being able to talk, but your smile and laughter just makes everything and everyone around you happy.Enjoy this journey with the special little girl who sees beauty in everything she does.Chris Lee is a small business owner who lives in Delaware. His daughter Aniyah was the inspiration for the book. She has a rare disorder called Angelman Syndrome which affects the nervous system.Characteristic features of this condition include developmental delay, intellectual disability, speech impairment, and problems with movement and balance – to name a few.You can get a copy of Adventurous Angel by Chris Lee at Amazon! Please share StoryJumpers with a friend if you enjoyed this episode. StoryJumpers is still growing, and your positive review and 5-star rating would help.The Bridge Podcast Network is made possible by generous support from The Boardwalk Plaza Hotel and Victoria's Restaurant on the boardwalk in Rehoboth Beach, Delaware - Open 7 days a week, year round - Learn more at https://boardwalkplaza.comFeedback, or Show Ideas? Send an email to podcast@887thebridge.comDownload The Bridge Mobile App to get the latest podcast episodes as soon as they are published!

Imagine not being able to talk, but your smile and laughter just make everything and everyone around you happy.Enjoy this journey with the special little girl who sees beauty in everything she does.Chris Lee is a small business owner who lives in Delaware. His daughter Aniyah was the inspiration for the book. She has a rare disorder called Angelman Syndrome which affects the nervous system.Characteristic features of this condition include developmental delay, intellectual disability, speech impairment, and problems with movement and balance – to name a few.You can get a copy of Adventurous Angel by Chris Lee at Amazon! Please share StoryJumpers with a friend if you enjoyed this episode. StoryJumpers is still growing, and your positive review and 5-star rating would help.The Bridge Podcast Network is made possible by generous support from The Boardwalk Plaza Hotel and Victoria's Restaurant on the boardwalk in Rehoboth Beach, Delaware - Open 7 days a week, year-round - Learn more at https://boardwalkplaza.comFeedback, or Show Ideas? Send an email to podcast@wearethebridge.orgDownload The Bridge Mobile App to get the latest podcast episodes as soon as they are published!

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.

Our third and final episode with Chelsea gives us a glimpse into the relationship Kenna has with her brother as well as discusses a couple of additional medical challenges Kenna has faced the past few months.   For those wishing to follow along in Kenna's journey, feel free to join her Facebook page: Kenna's Journey   Thank you Chelsea for sharing Kenna.  You brought awareness, education, conversation and support to many who needed to hear your words and thoughts surrounding Angelman Syndrome.   #AngelmanSyndrome #TonicClonicSeizure #HenochSchonleinPurpura #HSP #JuvenileArthritis 

Join us today as we continue our conversation with Chelsea.  She provides us with information about Angelman Syndrome from a parent perspective and shares with us some wonderful resources which have been extremely helpful to/and for her and her family.   We also hear from Chelsea about some unique to Kenna health concerns that have plagued her for several months.  Chelsea describes what it was like trying to be the advocate Kenna needed.   Resources Mentioned: FAST: Foundation for Angelman Syndrome Therapeutics:   (https://cureangelman.org/) Angelman Syndrome Foundation: (https://www.angelman.org/) ************ What is Angelman Syndrome? Angelman syndrome (AS) is a rare disorder caused by the loss of function of a single gene and affects approximately 500,000 people worldwide. Symptoms typically become noticeable around the age of 6-12 months and may include difficulty suckling and eating, gastrointestinal issues, delayed crawling and babbling, balance and motor impairment, and seizures. Some individuals never walk, and most do not speak. And while they require continuous care, they have a normal life expectancy and a distinctly happy demeanor, characterized by frequent laughing, smiling and excitability.   #AngelmanSyndrome #FAST #ASF #Genetics #RARE

Meet the Lawson family!!!   In Today's podcast you'll hear how Chelsea knew something wasn't "right" with her new daughter, Kenna, and simply wanted, needed, answers.  After multiple hospital admissions, discharges, readmissions, and a stay at Bethany Children's Rehabilitation Center they finally received a diagnosis.   Listen in today as Chelsea describes what the first four months of Kenna's life consisted of, as they tried to find ways to help their daughter and get the answers they needed to move forward.   #NICU #Polyhydramnios #FloppyAirway #Laryngomalacia  #TCC #BethanyChildrensRehabilitationCenter #AngelmanSyndrome  

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.

Join Dr. Holmes as she interviews Lisa Jamieson from Walk Right In Ministries…Lisa shares an opportunity mindset, encouraging parents and family caregivers in ways to thrive despite their limitations and complicated situations. She will provide insight into how every family member is uniquely designed with valued strengths as well as vulnerabilities that present opportunities to grow. The tips and strategies Lisa offers will help complex families learn to live cooperatively and care for each other well.Lisa Jamieson is an author, caregiver consultant, and pastoral counselor as well as co-founder of Walk Right In Ministries, a non-profit organization building faith and community with special needs families. Her popular books and studies include Finding Glory in the Thorns and a children’s book on prayer. Lisa facilitates a weekly online peer discussion group for caregivers and hosts monthly Real Talk Livestream conversations covering meaningful topics for families impacted by disability. She is passionate about connecting caregivers for practical, emotional, and spiritual encouragement. She and her husband, Larry, live in Minnesota with the youngest of their three grown daughters, Carly, who has Angelman Syndrome.You can find her and learn more about Walk Right In Ministries at www.WalkRightIn.org

In conjunction with World Rare Disease Day, which fell on 28th February, we will be spotlighting Angelman Syndrome, which is a rare genetic disorder. Joining us as always on her Brain Waves segment is neurogeneticist Dr Azlina Ahmad Annuar, and Pn Safiah bt Safian, whose son has Angelman Syndrome. Image Source: Shutterstock

"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

Join Anthony and Juliet as they look into Angelman Syndrome, a developmental disorder that is inherited in a rather uncommon way. Tune in to hear the biology, history and future medicines for this intriguing condition.

A gene-editing treatment shows long-lasting effects in a mouse model of Angelman syndrome, a genetic condition related to autism. The post Prenatal CRISPR therapy blocks Angelman syndrome traits in mice appeared first on Spectrum | Autism Research News.

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.

Hear from the experts in our conversations on a rare neuro-genetic disorder: Angelman Syndrome (AS). We cover AS diagnosis, new treatment options, and how to connect with the AS community. Experts in this episode include: * Lynne Bird, M.D. - Clinical geneticist and professor at UCSD School of Medicine. * Regina Uribe - Parent advocate of Angelman Syndrome. Her daughter, Natalia (4.5 years old), was diagnosed with Angelman Syndrome when she was 3. * Paula Evans - Parent advocate and Chairperson of FAST (Foundation for Angelman Syndrome Therapeutics). More resources and information for you: raredisease.com/angelman-syndrome

A gene-editing treatment shows long-lasting effects in a mouse model of Angelman syndrome, a genetic condition related to autism.

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!  

Emily Ray, a mother, and a French language teacher has proficiency in photography and considers it her passion. She was of English origin. During her childhood, she moved between several countries in Africa, Europe, and Asia. She has lived in Dubai since 2006, with her family.Emily shared her story with us today, which talks about her son Sam, who suffers from Angelman syndrome.Angelman syndrome is an inherited disorder. They cause growth retardation, problems with speech and balance, intellectual disability, and sometimes seizures.Angelman syndrome was named after the British pediatrician Harry Angelman, who described it for the first time in 1965What people with this syndrome were called "angels", a name derived from the name of the syndrome (as the word Angel means angel in English), and this confirms what It appears to them of meekness and happiness apparent.To contact Emilyhttp://www.erephotography.com/https://www.youtube.com/watch?t=166s&v=Utq656TqZOQ&app=desktopTo contact SahTime Show podcast@thesahtime.com

In this special episode of Parenting Impossible, Host Annette Hines welcomes back some of her early podcast guests, Hillary Dunn Stanisz, Cheryl Ryan Chan, and Dave Greenwood, to celebrate the podcast’s first anniversary and open the door to the future of conversations about special needs. This episode is also significant because Annette lights a candle for her daughter, Elizabeth, in honor of Mitochondrial Disease Awareness Week.  Annette launched Parenting Impossible - The Special Needs Survival Podcast out of the desire to connect with the special needs community and create a one-stop-shop for conversations, information, and resources that she could not find when her children were small and she needed it most. To further her goal of helping the special needs community, Annette also founded Special Needs Companies. Not everyone has access to an attorney, some people gather information in different ways, and others are not sure what they are looking for. Regardless, this podcast provides an opportunity to hear advice and stories from experts while you relax and enjoy your coffee.  Cheryl, featured as a guest on Episode 2 and 29 of Parenting Impossible, is a professional facilitator, focused on person-centered planning for people with special needs and their families and caregivers. She is also a mom to her 27-year-old son, Nicky, who is severely impacted by autism. For Cheryl, this podcast encourages resiliency and sustainability, and people are drawn to it because Annette brings her expertise and heart to every episode.  Hillary, a lawyer at the Disability Law Center in Boston, joined the podcast previously in Episodes 3 and 4. Her brother, Chris, is now 42 years old and has Angelman Syndrome. He may be nonverbal, but his killer smile and big heart influenced Hillary’s career path and every part of her life. She is grateful for this podcast because it is the only place that addresses the roles of siblings in the special needs community.  Dave produced many episodes of Parenting Impossible, taught Annette how to use a microphone, and was previously featured in Episode 14. He helps busy professionals create content, including podcasts. He is the author of the book, Overcoming Distractions: Thriving with Adult Attention Deficit Disorder, and speaks about the positive aspects of ADHD in his book and his podcast. Dave says that people in the special needs community are tired and confused, but Parenting Impossible is a place for them to get relevant information that will help them in their everyday lives.  For future podcasts, Cheryl and Hillary suggest discussing community and federal laws concerning the special needs community, abuse and neglect from caregivers, stories from families, and sharing resources that are hidden gems.  Dream podcast guests for the future include actor John C. McGinley, who is an advocate for people with down syndrome; Tim Shriver, a film producer and disability rights activist; national media correspondents; and other guests with disabilities.  Annette and Parenting Impossible have come a long way from her early episodes, when, for example, she had a case of nerves and mispronounced her own name! Over the past year, the podcast has featured experts from a wide variety of fields, shared invaluable resources, and featured families in the special needs community. In every episode, you’ll find genuine conversations designed to help you face any challenge you’ll encounter in the world of special needs. Stay tuned for an exciting new chapter of Parenting Impossible!

إميلي راي، أم ومدرسة لغة فرنسية، تمتهن التصوير وتعتبره شغفها، إنكليزية الأصل، تنقلت في طفولتها ما بين عدة بلدان في أفريقيا وأوروبا وآسيا. تعيش في دبي منذ العام ٢٠٠٦، مع عائلتها.شاركتنا إميلي قصتها في حلقتنا اليوم والتي تتكلم عن ابنها سام الذي يعاني من متلازمة انجلمان.متلازمة أنجلمان هي عبارة عن اضطراب وراثي. وهي تتسبب في تأخر النمو، ومشكلات في الكلام والاتزان، والإعاقة الذهنية، والنوبات الـمَرَضية أحيانًا.سميت متلازمة أنجلمان بهذا الاسم نسبة إلى طبيب الأطفال البريطاني هاري أنجلمان والذي قام بوصفها لأول مرة في عام 1965ما تم تسمية المصابين بهذه المتلازمة بال "ملائكة" وهو اسم مشتق من اسم المتلازمة (حيث أن كلمة أنجل تعني ملاك باللغة الإنجليزية)، ويؤكد ذلك ما يظهر عليهم من وداعة وسعادة ظاهرتين.ممكن التواصل مع اميليhttp://www.erephotography.com/https://www.youtube.com/watch?t=166s&v=Utq656TqZOQ&app=desktopوللتواصل مع صح تايم شوpodcast@thesahtime.com

On this Special Fathers Network Dad to Dad Podcast, we hear from Nathan Woerner, a missionary with SEND international and a father of two children including Ada. (2), who has Angelman Syndrome. Nathan tells of his family's travels to Japan and the differences between American and Japanese healthcare. That's all on this Special Fathers Network Dad to Dad PodcastShow Links: SEND International – https://send.org/ Angelman's Syndrome - https://www.angelman.orgFAST (Foundation for Angelman Syndrome Therapeutics - https://cureangelman.orgFind out about the Special Fathers Network at: https://21stcenturydads.org/about-the-special-fathers-network/Sponsored by Rubin Law www.rubinlaw.com

Miller is “joy personified”, very social, and loving. But that isn’t to say there aren’t major challenges that come along with having a child with Angelman Syndrome. Their number one challenge is Miller’s non-verbalism. He also sleeps 2-3 hours per 24-hour period and can even go days without sleep, largely because of his hyperactivity, and he also is prone to having seizures. In this conversation, Candace and Shawn share these challenges and solutions they’ve discovered in the course of his 8 years of life. Candace shares her journey in finding Miller’s diagnosis at almost 2 years old whilst going through a divorce from his bio-dad, and Shawn’s experience in entering their lives and being totally and completely accepting of Miller and his differences. We also talk about the prospect of curing Angelman syndrome, their choice to call Miller “disabled” instead of “special needs”, and the isolation that comes with having a child that has differences and challenges that few understand. ---- Mini-doc about Miller and family: https://www.youtube.com/watch?v=9iQLAHobfAU Donate to FAST, and help fund a cure here: https://cureangelman.org/ Learn more about resources for children with Angelman here: https://www.angelman.org/ --- For images, comments, the full transcript and more, visit the website: https://therarelifepodcast.com/ TRANSCRIPT: Shawn 0:00 "And then as soon as you say chromosomes, they're like Oh, so like Down syndrome. And I'm like No." Madeline Cheney 0:08 Hi, you're listening to The Rare Life. I'm your host Madeline Cheney. Now that we are into September, we have a new question of the month. This question of the month is a little more complex. It is: What is your favorite toy/tool/supply for (fill in the blank). This could be for dwarfism, hearing loss, vision loss, autism, low muscle tone, trachs, etc, etc, etc. So when you go to fill out the question, there will be a field that you can fill in to tell us what category your favorite tool, toy, or supply is for. And so I think it'll be really great for us to be able to share what we have learned as far as things that have been helpful. And this will be also a great thing for us to go to, I think, for birthday ideas and Christmas ideas, I'm really excited to see what you guys say. So head over to the website, therarelifepodcast.com both to answer September's question of the month and to look through the answers from last month. This is Episode 14: The story of Miller. This is our first ever episode with both parents in the interview, and I really loved it. It was great to have both perspectives and I'm hoping to be able to have that be more of the norm now so that this truly can be a podcast for both parents of children with rare conditions. Today we have Candace and Shawn talking about their son Miller. They talk about the challenges that come with having an eight year old with Angelman syndrome, like navigating non-verbalism, sleep issues, and seizures. They also talk about the prospect of a cure for Angelman syndrome, and what that would mean for them and Miller. Candace also shares about receiving Miller's diagnosis when he was almost two years old and while she was going through a divorce. Candace and Shawn have five children between them, Miller being the youngest. Shawn teaches English as a second language and he also has a background in film....

My friend Pam Lyman, active LDS and married mother of 4 boys, talks about raising a family with a son with Angelman Syndrome (https://www.angelman.org/) Pam and Matt's son Conrad who is 18 was diagnosed at 15 months with this family changing illness. Pam, who has been on this road for 16+ years, has wonderful insights for other families raising a child with a life-changing illness and what we can do better to support and sustain families walking this road. Thank you for being on the podcast Pam. You and your family are awesome and I deeply admire and respect you all. Your story will help so many. Note: Angelman Syndrome was discovered in 1965, not in 1985 as is mentioned in the podcast.

In episode 4, Kendall and Kylie talk about how amazing Moms are, the members of the Smitten Fan Club (aka their moms), and how Kendall can't help but analyze every Love Fact. Things get tearful as Kylie tells the story of Safe Haven Baby Boxes - bring the tissues because Kendall forgot and instantly regretted it. Kylie's ends on a more hopeful note with an adoption story. Kendall shares the story of Terry Jo Bischell and her son Louie. Terry Jo is determined to get involved in the research revolving around her son's condition, Angelman Syndrome. Listen in to witness the first tears of Smitten - you won't want to miss it!♡ Click here to see photos for this episode!♡ Click here for links to our sources for this episode!♡ Please help us out by rating and reviewing here!♡ Submit your own love story!♡ Submit a theme suggestion!♡ Follow Smitten on Instagram , Twitter , and TikTok!♡ Follow Kendall on Instagram and Twitter

I was so blessed and excited to share Dr. Bill Johncock’s powerful, inspiring story! Many have been fortunate to witness and bask in the joy that Bill and his beautiful son Logan deliver running as a duo team for Ainsley's Angels. This is a generational father-son love story, bound and shared together through running, filled with adventures, amazing stories, and so much love. Bill ran his first marathon at 15 and his dad, Jerry, at 52. They shared a one-of-a-kind experience running their first Boston’s together at 19 and 55. I was captivated by the stories. Jerry: 116 Marathons—starting after the age of 50—and holder of many National and World Age Group Records. Bill: 104 marathons, 6 Boston’s, with a lifetime PR of 2:34. Logan has Angelman Syndrome, an appropriate name since he may well be an angel on Earth. If you're lucky enough to meet this rock star, you'll know exactly what I mean. When they found out their opportunity to run their first Boston Marathon together had been postponed, they took action and created Team Logan's Marathon of Hope! For any families out there that have a special needs child, this episode will hit home. Bill is an amazing human and such a pillar in his community. This chat may be a long one, but it's filled with love and inspiration. If you enjoy the conversation, it would mean the world to me if you would rate the podcast or write a review and share feedback wherever you get your podcast groove on. Connect With Bill: Facebook: https://www.facebook.com/bill.johncock Connect With Ron: Personal Instagram: @ronrunsnyc Podcast Instagram: @runchats_with_ronrunsnyc Facebook: https://fb.me/runchats Website: https://ronrunsnyc.com ---- Produced by: David Margittai | In Post Media Website: https://www.inpostmedia.com Email: david@inpostmedia.com Social: @_margittai © 2020 Ron Romano

Karen is the owner of Green Apple Photography, where she focuses on photographing children and the people who love them.  She also collaborates with small businesses to create photographs that connect with their customers. She is both a fundraiser and volunteer for Kate's Kause - a charitable organization committed to Angelman Syndrome awareness and inclusive community projects. She is the proud aunt of Kate, who inspires me with her strength, voice, and her focus on enjoying life -something we all could use more of. In her free time she enjoys cycling, reading, and meeting & collaborating with new people.  She love spending time with my husband and three children.  Together with her family, she enjoy getting muddy on outdoor adventures, riding their bikes in the beautiful, rural communities of Woolwich and Wellesley, and watching movies together while cuddling in their pajamas.  To learn more about Karen, her businesses and roles and how to get in contact with her, visit www.elmirafc.com/005

This episode is for the mom of a special needs child as well as her friends who wish to support her. As with every difficulty we face in life, there are lies that crop up which hinder you from overcoming the challenge with grace and peace. Listen in while Hannah Black and I discuss several lies that moms of special needs children may be believing.Show NotesI’m undeserving of difficulty (i.e. God isn’t just)Comparing my child to typical/other Angelman Syndrome kids (i.e my life would be better if…)God does not have my child’s best interest at heart (i.e. God is not good)My child’s disorder is my fault (i.e. God is not in control)Music: "Our Great Savior" copyright by Galkin Evangelistic Team. Arrangement copyright by Reba Snyder. Used with permission.

You’ve got a friend or neighbor who has a child with special needs, but honestly, you just have no idea how to interact with her or her kid. What do you say? What do you do? What is her life like each day? In this episode I chat with my friend Hannah Black about her son Benjamin who has Angelman Syndrome. She shares her heart about some of the challenges that she, Benjamin, and her family face each day, and she shares some tips on just how you can be supportive of someone with a different needs child.Show NotesDefinition of Angelman SyndromeWhat Benjamin’s life is likeWhat life is like as a caregiverHow to relate to a caregiver and child with special needs ResourcesTo learn more about genetic therapies, cureangelman.orgFor for general info on AS, angelman.orgParenting or connecting with special needs: Heather Avis’ The Lucky Few,” “Scoot Over and Make Some Room” Andrew and Rachel Wilson’s The Life We Never Expected, Advocate like a Mother podcastMusic: "Our Great Savior" copyright by Galkin Evangelistic Team. Arrangement copyright by Reba Snyder. Used with permission.

A personal transformation from veterinarian to rare disease advocate.

Growing up, Emily Krichbaum’s younger sister Michelle was diagnosed with Angelman Syndrome - a rare genetic disorder that causes severe developmental disabilities and neurological problems. Throughout her life, Emily found connecting with her sister - who is nonverbal - very challenging.

In this episode, Amanda Moore, CEO of Angelman Syndrome Foundation speaks with Steve Smith, WCG’s President of Patient Advocacy. As a mom whose son has been diagnosed with Angelman Syndrome - a rare neuro-genetic disorder that affects 1 in 15,000 children - Amanda walks through the time from receiving initial diagnosis to the odyssey of her son’s patient journey in therapy and clinical trials.

To be a triathlete you have to be willing to work hard, put in your time, and get used to being uncomfortable, To be an off-road triathlete you have to be willing to face some obstacles along the way.  But to be a Professional Xterra triathlete you have to have something special, something extra.  And for Deanna McCurdy, having a child with a rare genetic disorder is that something.  Although she was always blessed with the ability to run, This opportunity has given her an inner strength, an ace up her sleeve that has propelled her to the top of the sport.  This multiple time pan am champion has decided to attack this disease the same way she attacks the racecourse.  And she wouldn’t have it any other way.  Deanna has united with Miles for Smiles to not just solicit support but is actually looking to implement a cure for Angelman Syndrome.  Determined to Eliminate this disease.  And see how she uses this as inspiration on the racecourse.  So lace up your trail shoes or grab your mountain bike and good luck keeping up with Deanna McCurdy.  

In this podcast, Chris Oliver & Effie Pearson discuss their paper 'Communication in Angelman syndrome: a scoping review'. Read their paper here: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.14257 ___ DMCN Journal: Developmental Medicine & Child Neurology (DMCN) has defined the field of paediatric neurology and childhood-onset neurodisability for over 60 years. DMCN disseminates the latest clinical research results globally to enhance the care and improve the lives of disabled children and their families.   DMCN Journal - https://onlinelibrary.wiley.com/journal/14698749 ___ Watch DMCN videos on our YouTube channel: https://bit.ly/2ONCYiC   Find us on Twitter! @mackeithpress - https://twitter.com/mackeithpress

Today’s podcast we connect with a warrior mama... well I should just say warrior FAMILY, that is just walking through the beginning of their sons diagnosis with Angelman Syndrome. A little over a month in to their journey & she takes us through just that. Stay tuned for a special guest speaker in this episode as well.. won’t want to miss! --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app

On this week’s Tech Nation, Moira speaks with the committed people who lead the biotech industry. Physician-entrepreneur Dr. Jeremy Levin chairs BIO, the Biotechnology Innovation Organization, and also works on the rare disease Angelman Syndrome at Ovid Therapeutics. Jim Greenwood, the CEO of BIO, asks “What’s the right thing to do?” about the price of drugs and everyday people. While BIO Vice Chair, Paul Hastings, is also the CEO of Nkarta Therapeutics. With Senior Vice President, Nadir Mahmood, they’re working with Natural Killer cells to fight cancer.

On this week’s Tech Nation, Moira speaks with the committed people who lead the biotech industry. Physician-entrepreneur Dr. Jeremy Levin chairs BIO, the Biotechnology Innovation Organization, and also works on the rare disease Angelman Syndrome at Ovid Therapeutics. Jim Greenwood, the CEO of BIO, asks “What’s the right thing to do?” about the price of drugs and everyday people. While BIO Vice Chair, Paul Hastings, is also the CEO of Nkarta Therapeutics. With Senior Vice President, Nadir Mahmood, they’re working with Natural Killer cells to fight cancer.

On this week’s Tech Nation, Moira speaks with the committed people who lead the biotech industry. Physician-entrepreneur Dr. Jeremy Levin chairs BIO, the Biotechnology Innovation Organization, and also works on the rare disease Angelman Syndrome at Ovid Therapeutics. Jim Greenwood, the CEO of BIO, asks “What’s the right thing to do?” about the price of drugs and everyday people. While BIO Vice Chair, Paul Hastings, is also the CEO of Nkarta Therapeutics. With Senior Vice President, Nadir Mahmood, they’re working with Natural Killer cells to fight cancer.

Amanda Moore joins us to talk about her new role as CEO of the Angelman Syndrome Foundation and her leadership within the rare disease community. Amanda and her family live in Indianapolis, Indiana. In 2015 Amanda and her husband, Adam, adopted twin boys, Jackson and Braden. Jackson was diagnosed with Angelman Syndrome in January of 2017 and since then Amanda has made it her mission to be an advocate for all people with Angelman Syndrome.

In this "in-between-isode" of Anamnesis, MedPage reporter Elizabeth Hlavinka shares highlights presented at AAN 2019, the annual meeting of The American Academy of Neurology. PHILADELPHIA -- Learn why AAN 2019, was 'The Year of NMO', neuromyelitis optica spectrum disorder. Episode produced by Elizabeth Hlavinka Hosted and sound engineering by Greg Laub Music by Jason Asistores, MD aka flatfives.

Friday, July 19 is the annual Fighting Angels Foundation Golf Tournament of Angels at Whitney Farms Golf Course in Monroe. Tournament organizer Sean Rabinowitz stopped by to talk with Allan about how the Fighting Angels Foundation got started, and the work that they do to battle the rare disease Angelman Syndrome. Learn more at http://fightingangelsfoundation.com/.

Don't miss this one – especially if you have any interest whatsoever in the dietary treatment of difficult conditions. Sybille Kraft-Bellamy's son has “Angelman Syndrome” – a severe genetic condition which can be greatly mitigated via the use of a correctly formulated ketogenic diet. So too can many other challenging conditions. Sybille is getting huge support from the authorities in France – a lesson for those in other countries…! VIDEO PODCAST: https://youtu.be/lcXLW0ov70k TRANSCRIPT: https://thefatemperor.com/wp-content/uploads/2019/05/Keto-Diet-Miraculous-Relief-for-Angelmans-Syndrome-and-Much-More-.pdf Please visit and share https://www.ihda.ie/ for heart attack prevention!

Christina Spaeth is a Speech-Language Pathologist who works with the birth-to-three population in Racine County, Wisconsin. She regularly encounters parents as they are just beginning their disability journey with their child. Her 27 year old sister also has Angelman Syndrome, a rare genetic syndrome that causes many problems, chiefly a severe cognitive disability. Christina has experienced the good and the bad when it comes to the church and disability. Listen as she gives some enlightening advice to the church on becoming disability inclusive. Below are some links provided by Christina. https://themighty.com/2014/11/when-i-realized-my-older-sister-is-different/ https://themighty.com/2016/02/i-rode-the-short-bus/ https://www.keyministry.org/church4everychild/2018/10/2/be-a-church-that-requires-no-pre-apology Support us on Patreon! | www.patreon.com/nypp Twitter | @NYPastors #NYPPulpit Facebook | @NotYourPastor Instagram | @NYPP Email: notyourpastorspodcast@gmail.com Music: Intro: Bringing Down Broadway Break: “Something Elated” by Broke For Free Outro: “Enthusiast” by Tours --- Send in a voice message: https://anchor.fm/notyourpastors/message

Do you know a child with special needs? 2.8 million children in the United States are classified as special needs. Special Needs is related to any child or adolescent that needs special accommodations for their learning difficulties, physical disabilities and/or emotional or mental difficulties. This can range from conditions such as severe anxiety, cerebral palsy, Down's syndrome, Autism, ADD, ADHD, dyslexia, processing disorders, osteo imperfecta and so much more. Dr. Pratt has a passion to see EACH child as a unique human being and empower families with tools to allow their children to THRIVE in the world. Learn about her approach and how special needs children can excel in all aspects of their life. Connect with Dr. Shelese Pratt and get more resources at www.theprattclinics.com   Dr. Pratt focuses on neurology and complex medical conditions relating to metabolic disease. She uses functional medicine and her expertise in biochemistry (methylation) and physiology to help her patients get to the root cause of their symptoms through a strategic approach. The modalities (tools of her practice) she uses are nutrition (diet and nutritional supplements), botanicals, environmental medicine, classical homeopathy and hydrotherapy. Dr. Pratt specializes in caring for many special needs children some of the complex cases she has treated for over 14 years have been Traumatic Brain Injury (TBI), Cerebral Palsy, PVL, Global Development Delay, Angelman Syndrome, learning difficulties (ADD, ADHD, and dyslexia), sensory processing disorders, autistic spectrum disorders, digestive system disorders/disease, endocrine disorders, autoimmune disease, and mood disorders. Dr. Pratt sees patients from all over the world via telemedicine or in person at her clinics in Colorado and Connecticut.

This week, the TWT team interviews Erin Sheldon, literacy and language development specialist for AssistiveWare and school inclusion consultant! Erin shares from her experiences working with visually-impaired AAC users, both professionally and as the parent of a teenager diagnosed with autism and Angelman Syndrome.   Before the interview, Rachel and Chris discuss some of their experiences with visual impairments and AAC, including teaching a student with CVI to communicate with visual & auditory scanning, using high-contrast images on AAC, teaching literacy using braille stickers, and the importance of AAC modeling with visually-impaired students!   Next, Erin shares about her daughter’s CVI, an impairment of the brain’s ability to process visual information. She discusses how they have taught her daughter to use a modified PODD system, and why it has been important that they have always presumed competence.  Erin also shares about:   1. Why we “can’t hold a student’s language hostage to their vision” when implementing AAC. 2. Why moving to AAC more quickly can be very beneficial to language development, because children with CVI may understand symbols better than photographs. 3. What partner assisted scanning is, why it is so important for some users, and how it can help build a language foundation faster than when communication is only verbal. 4. What verbal referencing is, and why verbalizing what you understood from a person’s behavior can help improve language development. 5. Why making grids with too few icons OR too many icons can cause students with CVI to plateau. 6. Why we need to look what someone with can access, not just what he or she can see. 7. How to take advantage of colors that are easier to visually identify for some people with CVI, and how mentioning coloring during modeling can help the child connect the color and the icon. 8. How visually-distinct, high-contrast symbols can be effective for students with CVI. 9. Why maintaining the motor plan and icon location is so important for AAC users with CVI.   We want to know what you think! You can connect with us at our Facebook group Talking with Tech, on Twitter, and Instagram (@talkingwithtech)! Also, please subscribe and post a review for us on iTunes- it helps others to find us!   For more links, information, and resources from this episode, visit our podcast page at bit.ly/twtpodcast

Becky Burdine impacts the rare disease community, the Angelman syndrome community and the scientific community in every way possible. Her approach is science driven and starts with the families in her community. Dr. Burdine is parent to a child with Angelman Syndrome, and was a founding member and Chief Scientific Officer for the Foundation for Angelman Syndrome Therapeutics from 2008 until 2016. She also served on the Scientific Advisory Board for the Angelman Syndrome Foundation. Dr. Burdine is Associate Professor of Molecular Biology at Princeton University and currently serves as Chief Scientific Officer for the Pitt-Hopkins Research Foundation. Also, in this episode we introduce BOLD MOVE, a new part of the program where Amit answers questions from the rare disease community.    

Amit is joined by Sam and Alexis Maydew, parents of a child with Angelman Syndrome. The Maydew's talk about their journey as parents, advocates and leaders in the Angelman Syndrome community.  

February 28th, 2018 was Rare Disease Day! Rare Disease Day is an opportunity to raise awareness for 7,000+ rare diseases and the 30 million Americans who are affected by a rare disease(s). There were events held worldwide to raise awareness. The theme for this year's Rare Disease Day is "Research" and the important role that patients play in gaining an understanding of rare diseases and developing innovative treatments or cures. This year's slogan is "Patients are not only subjects but also proactive actors in research."This episode features a couple interviews with presenters, who I caught up with at the end of the Rare Disease Day event in Hartford, CT in the Legislative Office Building. This specific event is one I have attended for a few years and provides an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases, and what it’s like to live with or care for someone with a rare disease in the state. A main focus of the event was newborn screening, including the addition of Pompe Disease and Mucopolysaccharidosis Type 1 (MPS1) for Connecticut. Connecticut covers over 60 diseases, while most other states only cover ~40 diseases.  A young man named Hunter Pageau spoke about his extremely rare disease, SMARD, Spinal Muscular Atrophy with Respiratory Distress. SMARD is an aggressive respiratory/neuromuscular disease causing paralysis and inability for patients to breathe on their own. And 1 of only 12 people in the United States, and of 80 worldwide, with SMARD. Being the trailblazer he is, he started YES, the young empowerment society for kids. He is a true inspiration and leader! Going with the theme of this year’s Rare Disease Day, researchers shared how vital funding is to their research and the cascade effect initial funding can have. Stormy Chamberlain, PhD, a researcher at UCONN who focuses on Angelman Syndrome, explained how the Connecticut Stem Cell Research Fund led to NIH funding and partnerships with pharmaceutical companies such as Alexion. Presenting alongside her was Jim Kubicza, a father of a child who has Angelman Syndrome. As a fierce patient advocate, he joined the Angelman Syndrome Foundation to help raise some of this research money. He also shared some aspects of being the father of a child with a rare disease, including the burden of expensive seizure medication, full-time supervision of his son, and fighting for basic needs for his son at school. He shared more in our interview in this episode.  There was also a family with a daughter who has Dravet Syndrome. Beth Fox shared about her daughter's 250 unconscious seizures, despite trying multiple different medications, and their battles with her insurance company for coverage. In a cute moment, her daughter joined her at the podium, excited to introduce herself. Jean Kelley also spoke as a patient advocate. Her son Brian has a rare neurological disease called Adrenoleukodystrophy (ALD) for which she started an organization, Brian’s Hope. She shares more during her interview in this episode. Senators and Representatives also spoke about their support for rare diseases including the Connecticut Rare Disease Task Force. This bipartisan group focuses on newborn screening, insurance issues, support services in school systems among other topics. It takes 2.5 billion dollars and 12 years to develop a drug, so we need to give tax credits to companies so they have incentive to come to Connecticut for their research, which then helps the state. It’s fantastic that an event like this can bring legislators into the conversation so we can take action to help families with rare diseases. For more information about Rare Disease please visit NORD’s rarediseases.org and check out the other episodes about rare diseases including previous Rare Disease Days.

Over the weekend, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new genetic editing technology that has taken over labs and stolen headlines, CRISPR. UCONN hosted "The Impact of CRISPR on Imprinting Disorders" featuring presentations from Christopher Stoddard, Dr. Marc Lalande, Dr. Stormy Chamberlain, Dr. Michael O'Neill among others. Chris Stoddard, who operates the human genome editing core at UCONN Health, join me on the show to explain CRISPR's origin, how we adapted CRISPR to use it in the lab, and two different CRISPR methods (editing the genome and the epigenome). I highlight other research with CRISPR including to research autism spectrum disorder, Angelman Syndrome and Prader-Willi Syndrome.

We talk to the mother of a boy with Angelman Syndrome, and then pay tribute to Rose Petit who died a few weeks ago.

It took almost three years to get an official diagnosis for their son, Smith.  Beth and Bryce shared their journey to getting a diagnosis of Angelman syndrome and how it has impacted their family. Making Your Heart Grow Long journey towards a diagnosis Unlike several disorders that are noticeable at birth, Beth and Bryce thought their son, Smith, was typical.  Beth recalled that she noticed he wasn’t looking at her. She said, “At around four to six weeks, he still wasn’t looking at me.  We thought maybe it was his eyes, so we got his eyes checked out, and they were fine.” As time went on, Smith started missing developmental milestones.  He wasn’t crawling, using his hands, talking, and still wasn’t looking at things.  This started Beth and Bryce on a series of appointments with several specialists to try and determine why Smith was falling behind.   Relief from receiving a diagnosis After two and a half years, they finally received the diagnosis of Angelman syndrome.  Bryce said, “We were so elated..finally a microarray analysis of his blood was able to determine what he had..When we found out it was Angelman, we were really excited.” One of the specialists they saw in their journey for a diagnosis suspected that Smith had muscular dystrophy.  A condition that can greatly affect how long a person lives. They were relieved that Smith had Angelman syndrome.  It meant that he would be able to live a longer life, something his parents were extremely grateful for. What is Angelman syndrome? Angelman syndrome is a genetic disorder that mainly affects the nervous system.  The most common features of the condition are: developmental delay, intellectual disability, severe speech impairment, and problems with movement and balance.   True to the name of the disorder, people with Angelman syndrome are happy and have an excitable demeanor who often smile, and laugh.  Smith is unable to walk, talk, or feed himself. He can roll around, and he can sit up independently. Losing the child you thought you were going to have Both Bryce and Beth mourned the loss of the life of the child they thought they were going to have.  Beth said, “The hardest thing was kind of just this loss of a dream of having this child who’s going to be walking and talking..it was hard for me to go to playgroups with other moms when they all had these kids who were whining to them and wanting things..I kind of felt a little left out of the normal mom raising.” Growing up, Bryce described memories he made with his dad.  “I’m a big athlete, and my dad taught me to throw a baseball, and I played all of these sports, and we’d go hiking, fishing, whatever.  Then the realization hits that this is going to be your whole life..and you don’t get the interaction, you don’t even get the ‘I love you dad.’ that for me, was the hardest.” Joy comes in different ways Changing the way they thought about their life helped Beth and Bryce find joy in raising Smith.  Beth at first would hear people who have children with disabilities say, “I wouldn’t change him for anything.”  She found herself feeling selfish and would think, “I would! If I had the power or ability to change him, I would.”   Now, years later, she has realized as she has gotten to know Smith on a different level, she wouldn’t change who he is.  She said, “..there’s a different relationship you have with someone that can’t talk..what he’s brought to us, and the understanding and enlightenment I’ve had from having a special needs child, is a way bigger education that I could have hope for or dreamed of.  I’m so grateful for it..There’s kind of an honor in taking care of someone who can’t take care of themselves.” Bryce changed his thinking about his interactions with Smith.  While he used to dream about teaching him sports and how to read or write he said, “Then it turned into well, if he eats the food today and if we can actually get him to go to the bathroom, that is exciting.  When he has a good bowel movement,

The BjjBrick Podcast is in iTunes, Stitcher radio, and RSS link for Andriod PJ Waicus joins us this week for an interview.  He has been training BJJ for about 5 years.  He trains at South Jersey Brazilian Jiu Jitsu Academy.  PJ has two children that have Angelman Syndrome.  This interview we talk a lot about BJJ, learn about Angelman Syndrome and we face off the mat challenges that life presents. We talk about: Starting BJJ at the age of 39 Size differences on the mat How Angelman Syndrome is passed on The effects of Angelman Syndrome The Angelman community Bipolar Disorder and BJJ Training with a busy schedule How BJJ is like a church to him Training BJJ for the long term Advice for parents that have kids with Angelman Syndrome Links: Voices for Angels/ devoted to Angelman Syndrome awareness for our children South Jersey Brazilian Jiu Jitsu Academy Angelman.org Contact PJ on his Facebook page here Quote of the week: Presented by: A double quote! Presented by Mark Mullen. "It is not who is good, it is who is left. It's hours on the mat, if you put in the time natural athlete or not, practice the art you will be a black belt. "Chris Haueter "I don’t have talent, I have tenacity. I have discipline, I have focus. And I know without any illusion, where I come from and where I can go back to"  Henry Rollins Article of the week: "When Jiu Jitsu is Like Brushing Your Teeth"  From A Skirt on the Mat Catch us next week for another episode of The BjjBrick Podcast

Zac, Luke and Clara are three children living in Ireland. In America, another little girl they don't know - Molly Brockie - is undergoing clinical trials that could change all of these childrens lives. All have Angelman Syndrome - a rare genetic disorder.

[Show Notes Link]Direct Download Link | | Direct download link The 2006 Winter Olympics kicked off in Italy today. I share a little bit about what I saw during the live broadcast the CBC provided this afternoon and discuss these olympics in relation to the upcoming 2010 games in Vancouver. And while prepping today’s episode, my nephew came online with iChat. I took the opportunity to perform yet another experiment and record a conversation with him and his mother, Wendy. And by the way, Happy Birthday, Wendy!!! We also cover some listener feedback. Links and name drops: – Torino 2006 Winter Olympic Games – Vancouver 2010 Winter Olympic Games – The Winnipeg Sun: “VANOC asks for extra $110 million” – National Post: “B.C. Games $110M over budget” – Wikipedia: 2006 Olympics, 2010 Olympics, Angelman Syndrome – Angelman Syndrome Foundation – Choogle On with Uncle Weed Music artists for this episode: – The Red Thread – ship in the attic – Folk Implosion – kingdom of lies (Lou Barlow) – The Diamond Mines – dad’s old radio – Longwave – wake me when it’s over Please send an email or audio comment to radiozoom [at] gmail [dot] com. Also, send your mp3’s of music you’d like to see played on my podcast to the same address. 43:56 minutesSubscribe: RSS Podcast Feed Subscribe on iTunes © Copyright Creative Commons: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0), RadioZoom (John Bollwitt)