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45 episodes with asmd
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Text Us!In this episode, we talk to Jillian about raising her kids, Roman and Stella who are battling a rare genetic condition called ASMD.Follow Jillian on social media @confessionsofararediseasemama and subscribe to her podcast HERE.Get a copy of her book "Soaring Together" inspired by her disabled children HERE.Please subscribe, leave a review, and follow us on social media to know about upcoming episodes and to participate in this podcast.Instagram - @raisingdisabledpodcastFacebook - Raising Disabled Podcast
Send us a textIn this solo stream-of-consciousness episode, I'm catching you up on everything happening in our world lately—from the latest updates on Roman and Stella's treatment journey, to exciting news about my book Soaring Together, to some personal reflections on life, advocacy, and motherhood.You'll hear about where we are with the investigational brain medication, some hopeful signs we've been seeing, our upcoming family trips, and a big (and bittersweet) decision we're considering for next year: sending the kids to an in-person school for children with disabilities. I'm sharing all the emotions that come with these changes—hope, nervousness, gratitude—and what it means to show up for life, even when it's complicated.If you've been following our story or are just tuning in, this is a cozy, honest, and real-life update from our little corner of the rare disease world.In This Episode:Updates on the kids' investigational drug protocolThe next step in their ASMD treatment journeyStella's FIRST dance recital Soaring Together now available at the Cincinnati Zoo Gift Shop!Why we're considering in person school for Roman and Stella next yearUpcoming travel plans (and why these trips are extra meaningful)The power of making memories—big and small*Special shout out to @abbeybenj for inspiring me to get Stella into a dance class!Thank you for being here and for walking this road with us.
Send us a textFinding financial support and resources as a rare disease parent can feel overwhelming—but what if there was a platform designed to make it easier? In this episode of Confessions of a Rare Disease Mama, I sit down with Abby Zachritz, also known as Advocacy Abby, to talk about the incredible tool she's created in partnership with SupportNow to connect families with grants and resources tailored to their child's diagnosis and location.Abby shares how her own experiences as a mother and caregiver to her disabled son led her to build this platform, the impact it's having on families, and practical advice for caregivers looking for financial support. If you've ever struggled to navigate the world of grants and assistance programs, this episode is for you!In This Episode, We Discuss:✨ How Abby became "Advocacy Abby" and what inspired her platform✨ The challenges families face in accessing financial assistance✨ How her platform works to match families with available grants✨ Tips for advocating for financial support and navigating the system✨ Why caregivers need more access to resources—and how to find themConnect with Abby & Explore Her Platform:
Send us a textIn this episode of Confessions of a Rare Disease Mama, I'm joined by Hilarie Geurink, a registered dietitian with a passion for empowering families to explore real food blended diets for their loved ones. Hilarie specializes in creating personalized nutrition plans that incorporate whole foods, providing an alternative to traditional formula-based tube feeding.We discuss the benefits of blended diets, practical and easy tips for getting started, and how they can positively impact the health and quality of life for children and adults with feeding tubes. Hilarie shares her wealth of knowledge and practical advice, along with some inspiring success stories from the families sheâs worked with.Whether youâre already using a blended diet or are curious about making the switch, this episode is packed with valuable insights and encouragement for caregivers navigating this journey.Key Topics Covered:What is a real food blended diet?The health benefits and challenges of switching to whole foods for tube feeding.Strategies for preparing and balancing a nutritious blended diet at home.Resources and tools to support families interested in blended diets.Tune in for an enlightening and encouraging conversation that sheds light on the power of real food!Connect with Hilarie:Instagram: @blendedtubefeedingGet 25% off monthly membership to her online community and resource group, Blended Tube Feeding Made Simple: HEREAdditional Resources:Article on blenders and discount programs: https://blendedtubefeeding.com/the-best-blenders-for-tube-feeding-with-discounts/Article on commercial real food formulas: https://blendedtubefeeding.com/real-food-tube-feeding-formulas-a-dietitians-review/Join the Conversation:Follow Confessions of a Rare Disease Mama on Instagram, TikTok, and Facebook. Share your thoughts on this episode and connect with our community. Be sure to follow us on social media and subscribe on our website for more episodes that bring you stories and insights from those who truly understand the rare disease journey.Purchase my new inclusive children's book Soaring Together now available on Amazon and at Barnes and Noble Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt & other merch!Learn more about my children's fight with ASMD and donate to our cause 10% OFF 8Sheep Organics Junior Bedtime Lotionor use code CONFESSIONS at checkout...
Send us a textIn this moving episode of Confessions of a Rare Disease Mama, I sit down with Lauren Williams, a rare disease advocate and one of the driving forces behind the CureGRIN Foundation. Lauren shares her journey as a mother to a son who bravely fought against GRIN1, a rare genetic condition, and the heartbreak she has and continues to endure from his passing just over a year ago.Lauren opens up about how she made the decision to continue to advocate after her son's passing, dedicating her life to supporting other families navigating GRIN1 diagnoses. We discuss the importance of community, the challenges of advocating for rare diseases, and the legacy of love and resilience that her son has inspired.Trigger Warning: Child lossConnect with the CUREGRIN Foundation:Website: https://curegrin.org/Social Media: @curegrin_foundationConnect with Lauren:On facebook: https://www.facebook.com/laurenrochellewilliams/Through email: Lauren@curegrin.orgJoin her virtual support group (Unbreakable Bonds) for bereaved parents of medically complex children: https://www.facebook.com/share/g/15XzQPCNTz/Thank you for listening and holding space for this important discussion.Join the Conversation:Follow Confessions of a Rare Disease Mama on Instagram, TikTok, and Facebook. Share your thoughts on this episode and connect with our community. Be sure to follow us on social media and subscribe on our website for more episodes that bring you stories and insights from those who truly understand the rare disease journey.Purchase my new inclusive children's book Soaring Together now available on Amazon and at Barnes and Noble Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt & other merch!Learn more about my children's fight with ASMD and donate to our cause 10% OFF 8Sheep Organics Junior Bedtime Lotionor use code CONFESSIONS at checkout...
Send us a textAs the new year begins, I'm sharing some personal changes I hope to put into practice in 2025. From doing more gratitude journaling to developing better sleep habits & less doom-scrolling before bed, I'm diving into the shifts in routine I want to cultivate this year.I'm also opening up about how the winter months affect me (especially once the holidays are over) and the intentional ways I'm working to combat the seasonal blues. If you're someone who feels the weight of the colder, darker days, this one's for you. Together, let's continue to find ways to nurture hope and light as we move forward into a new year.10% OFF 8Sheep Organics Junior Bedtime Lotionor use code CONFESSIONS at checkoutJoin the Conversation:Follow Confessions of a Rare Disease Mama on Instagram, TikTok, and Facebook. Share your thoughts on this episode and connect with our community. Be sure to follow us on social media and subscribe on our website for more episodes that bring you stories and insights from those who truly understand the rare disease journey.Purchase my new inclusive children's book Soaring Together now available on Amazon and at Barnes and Noble Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt & other merch!Learn more about my children's fight with ASMD and donate to our cause 10% OFF 8Sheep Organics Junior Bedtime Lotionor use code CONFESSIONS at checkout...
Send us a textIn this solo stream of consciousness episode, I reflect on the unique challenges and joys that the holiday season brings for families navigating rare diseases and medical complexities. I share practical tips for managing expectations, creating meaningful traditions, and finding joy in the small moments. I'm here to offer encouragement for parents feeling the weight of the season, reminding them that connection and presence matter far more than perfection. Whether you're scaling back traditions or adapting them entirely, this episode is a gentle reminder that the holidays can still hold magic, even when they look different. Join the Conversation:Have thoughts about today's episode? Share your holiday tips, reflections, or just drop a note to connect! Send me a message or tag me on social media with your thoughts. Let's navigate this season together, one moment at a time.Don't Forget:If you enjoyed this episode, please take a moment to subscribe, leave a review, and share it with another parent who might need a little holiday encouragement. Your support means the world and helps us reach more families who need it most.Listen to the TOP 3 episodes of 2024:1. My Inner Debate on a Third Child and What I Have Come to Realize2. Mini Ep: My EXCITING, BIG Announcement!3. Talking About All the Things with The Rare Life's Madeline Cheney Looking forward to seeing you all back here in 2025!Join the Conversation:Follow Confessions of a Rare Disease Mama on Instagram, TikTok, and Facebook. Share your thoughts on this episode and connect with our community. Be sure to follow us on social media and subscribe on our website for more episodes that bring you stories and insights from those who truly understand the rare disease journey.Purchase my new inclusive children's book Soaring Together now available on Amazon and at Barnes and Noble Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt & other merch!Learn more about my children's fight with ASMD and donate to our cause
Send us a textIn this deeply personal episode of Confessions of a Rare Disease Mama, I sit down with Ashley Haywood, a devoted mother and passionate advocate for her 8-year-old daughter, Sadie, who is living with Sanfilippo syndrome. Often referred to as "childhood Alzheimer's," Sanfilippo syndrome is a rare and progressive genetic condition that profoundly impacts children and their families.Together, Ashley and I explore how our children's life-changing diagnoses reshaped our lives in ways we never expected. We reflect on our shared experience of initially retreating from our communities after receiving devastating news, a natural but isolating response to overwhelming grief. We also discuss the transformative journey that followed as we found purpose, strength, and connection in advocacy and community support.Ashley shares her family's path from diagnosis to their current reality, highlighting the challenges and triumphs of raising a child with a rare and terminal disease. From navigating clinical trials to building awareness for Sanfilippo research, and then navigating divorce in the midst of it. Ashley's story is a testament to the resilience and unwavering love of rare disease families. Follow Sadie's journey on instagram Learn more about Sanfilippo syndrome hereShop Sadie Rae merch here (Proceeds to to Cure Sanfilippo Foundation)Be sure to follow us on social media and subscribe for more episodes that bring you stories and insights from those who truly understand the rare disease journey. Purchase my new children's book Soaring Together now available on Amazon and at Barnes and Noble https://www.confessionsofararediseasemama.com/Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt & other merch!Learn more about my children's fight with ASMD and donate to our causeFollow us on instagram!
Send us a textIn this episode of Confessions of a Rare Disease Mama, we dive into the complexities of family transitions with Mary Ann Hughes, a certified Special Needs Divorce Coach. Mary Ann took her own experience of navigating divorce after 21 years of marriage, and raising two children on the autism spectrum, into a mission to help others. Mary Ann shares her invaluable insights and compassionate guidance on navigating divorce and separation when a child has profound medical and/or behavioral needs. We discuss the unique challenges these families face, from planning for financial security to co-parenting with empathy, and how to approach these transitions with strength and clarity. Join us for this heartfelt conversation that sheds light on support systems and resources designed to help families move forward with resilience. Learn more about Special Family TransitionsFollow Mary Ann on instagram: @specialfamilytransitionsSpecial Family Transitions YouTube ChannelLow Priced Mini Course Mastermind *MARK YOUR CALENDARS*My first children's book, Soaring Together: A Butterfly Family's Story of Discovery, Love, and Resilience, will be available for purchase on 11/11/24!Be sure to follow us on social media and subscribe for more episodes that bring you stories and insights from those who truly understand the rare disease journey. https://www.confessionsofararediseasemama.com/Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt & other merch!Learn more about my children's fight with ASMD and donate to our causeFollow us on instagram!
Send us a textTune in to this mini episode to learn what my exciting, big announcement is! It's a very special project I've been quietly working on for years & cannot wait to share it with you all!Donate to Hurricane Helene recovery efforts in NC hereDonate to Hurricane Helene recovery efforts in FL hereBe sure to follow us on social media and subscribe for more episodes that bring you stories and insights from those who truly understand the rare disease journey. https://www.confessionsofararediseasemama.com/Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt & other merch!Learn more about my children's fight with ASMD and donate to our causeFollow us on instagram!
Send us a textIn this episode I welcome back (for a repeat appearance!) Director of Community Engagement of Global Genes, Mr. Daniel DeFabio. During our conversation, we dive deep into the many facets of advocacy that we, as rare parents and caregivers deal with. Daniel shares his vast knowledge and experience in the rare disease community and together we break down the eight different types of advocacy that every rare disease parent/caregiver or patient can engage in.From policy advocacy to school support, Daniel explains how each form of advocacy plays a vital role in making an impact, whether you're new to advocacy or a seasoned advocate looking to expand your influence. We explore how these various types empower families, patients, and communities to drive change at both a personal and systemic level.Tune in to gain valuable insights on how you can take actionable steps in your advocacy journey, no matter where you are in your path, and learn more about the incredible work of Global Genes in uniting the global rare disease community.Daniel's 8 Stages of Advocacy ArticleLearn more about Daniel DeFabioRegister for Global Genes Patient Advocacy SummitLearn how to tell your storyBeginners guide to rare diseaseBe sure to follow us on social media and subscribe for more episodes that bring you stories and insights from those who truly understand the rare disease journey.https://www.confessionsofararediseasemama.com/Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt!Learn more about my children's fight with ASMD and donate to our causeFollow us on instagram!
Send us a textEnjoy this solo catch-up episode! Some things I bring up during this episode:-Our kid's starting school (homebound vs. in person)-Roman's upcoming SIXTH birthday & fundraiser-Dealing with ignorant comments online-What quality of life means to me and my children-Upcoming weekend trip I have planned (without the hubby and kids)!-How it felt turning 36 this summer and officially entering my SELF LOVE eraListen to my episode on the Rarely Normal PodcastListen to my story episode on the Rare Life Get your FREE Positive Affirmations for the Medical Parent PDF here!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Before we have children, most of us never envision what it would be like to raise a disabled child...and certainly not two of them with the same degenerative disease (Acid Sphingomyelinase Deficiency, ASMD for short, also sometimes called Niemann Pick Disease Type A/B). But this is the exact situation Jillian Arnold found herself in after the birth of her daughter, Stella. In this tender, raw episode, Jillian describes what it was like navigating a surprise pregnancy in the midst of receiving her son Roman's diagnosis, the gut-wrenching news that her daughter had the same disease, and how the disease has impacted each child in unique ways. Jillian also shares the way her own mindset has changed, including the way she cherishes every moment she does get to spend with her children. Also, huge thank you to our sponsor Functional Formularies! They make incredible, nutritious food for our tube-fed kids that's easy to access and use. Honestly, if our kids are eating Functional Formularies formula, they're probably eating better than us! Links: Join The Rare Life newsletter and never miss an update! Fill out the application for our final board seat! Visit the Functional Formularies website and get easy, nutritious, tube-friendly meals for your child! Listen to Ep 157: Friendships with People Who Don't Have Disabled Children with Jillian Arnold. Listen to Madeline's episode on Confessions of a Rare Disease Mama. Follow Jillian on Instagram @confessionsofararediseasemama! Follow us on Instagram @the_rare_life! Donate to the podcast or Contact me about sponsoring an episode. Fill out our contact form to get a reminder about upcoming discussion meetings and the Skype link to join! Follow the Facebook page. Join the Facebook group Parents of Children with Rare Conditions. Access the transcript on the website here. And if you love this podcast, please leave us a rating or review in your favorite podcast app!
Send us a Text Message.I am back this week with a lovely conversation with the wonderful Jessica Patay, Founder & Executive Director of the non profit We Are Brave Together. In this episode we talk about the importance of respite as a caregiver, her experience as a mother and caregiver to her son, Ryan, who is living with Prader-Willi syndrome, how her non profit came to be, as well as the new anthology they recently released called "Becoming Brave Together," along with so much more. Happy listening, friends!Buy Becoming Brave Together on amazonLearn more about We Are Brave TogetherFollow them on instagramGet your FREE Positive Affirmations for the Medical Parent PDF here!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Send us a Text Message.For our very belated Father's Day episode I have my favorite baby daddy & life partner on, Donald to recap our incredible week at Disney for Stella's Make-A-Wish trip. We talk about some of our favorite things we did there and share some tips to other medical parents who are considering a MAGICAL trip to Disney. Happy Listening, friends!Feeling overwhelmed by the challenges of raising a medically complex child? Join me at the upcoming Powerful Medical Parenting Summit! We will explore strategies, resources, and support to help you tackle isolation, uncertainty, and exhaustion. The best part? Registration is FREE! Sign up today!Get your FREE Positive Affirmations for the Medical Parent PDF here!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Send us a Text Message.With the passing of Memorial Day weekend, we get to another anniversary of our D-Day. 5 years since our entire lives were flipped upside down. Join me during this mini solo episode as I share some things I wish I could go back and tell myself at the time of Roman's diagnosis, knowing what I know five years in.https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Send us a Text Message.Welcome to the podcast, Megan Craft! Megan is a Speech Language Pathologist, wife and mother of two, who saw an unmet need in the community when she kept hearing from parents of her patients that their children were not represented in books. She felt called to do something about it, so she started her children's disability inclusive book series called Mission: Inclusion. Through her series she is working towards expanding diversity of book characters to include children with varying types of disabilities. She draws inspiration for her characters from all the children/adults who she has previously worked with during her SLP career. The theme behind the character stories is to show young children that we are all different and that is what makes us important. It helps readers learn to accept and find commonality with peers to raise awareness and increase the inclusion of their peers in various environments. Get a started in the Mission: Inclusion series HEREFollow Mission:Inclusion on instagram @mission._.inclusion1622Purchase Margo & You on amazonhttps://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
In honor of Roman being home for one whole year from our terrifying 2 month PICU stay, I decided to compile a list of all my must-haves while I am inpatient with my child. I also share other tips for holding onto your sanity while you are in the midst of a long and unexpected hospital stay with your child. Happy listening, yall! Shop all my inpatient must-haves below:https://www.amazon.com/shop/confessionsofararediseasemama/list/35OEIGSFEA1H4?ref_=aipsflist_aipsfconfessionsofararediseasemamahttps://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Friendship, especially with those who don’t have disabled children, gets more complicated once you’ve had your own child with disabilities. It’s not necessarily fair, but it doesn’t change the fact that we often end up interacting differently with friends we had before our children were born.In this episode of The Rare Life, I’m joined by Jillian Arnold, host of her own disability parent podcast and mom to Roman and Stella, who both have ASMD (a.k.a. Niemann Pick Disease Type A/B). We dig into all the aspects of befriending and maintaining friendships with parents who don’t have disabled children. We cover the logistical difficulties, the triggers that come up for us, the beautiful parts, and how to stay empathetic to those who are experiencing the world so differently from us. This is a gem of an episode, and it was made possible by our generous sponsor Moog Medical. They are so dedicated to our children with medical complexity that they've created an entire Feeding Pump Guide to share with anyone who cares for your child to help operate and troubleshoot your Infinity pump. Links: Visit MOOG’s website to learn about all the resources they’ve created to support your tube-fed child (and you!) Listen to Ep 151: Befriending Other Disability Parents. Listen to Ep 95: Parable of the Pain Scale. Listen to Jillian’s podcast Confessions of a Rare Disease Mama. Visit Jillian’s website to raise funds to cure her children’s rare disease ASMD (a.k.a. Niemann Pick Disease Type A/B). Follow Jillian on Instagram @confessionsofararediseasemama! Follow us on Instagram @the_rare_life! Donate to the podcast or Contact me about sponsoring an episode. Follow the Facebook page. Join the Facebook group Parents of Children with Rare Conditions. Access the transcript on the website here. And if you love this podcast, please leave us a rating or review in your favorite podcast app!
I hope ya'll have a pen and paper to write down ALL the amazing travel tips this week's guest shares with us! Kristy Cook is a mother of four (one who is diagnosed with a rare form of Epilepsy) & the founder of Accessible Adventures. She believes that nature is meant for EVERYONE and is very passionate about accessible travel. This week she shares more about her family, how they got started in all their accessible adventures, and shares so many travel tips for families of medically complex children. Happy listening, friends! Learn more about Kristy and her family's travel adventures: https://accessibleadventures.net/index.html#/Follow them on instagram: @accessible.adventuresBlog post for most accessible east coast beaches in US:https://wonderswithinreach.com/2023/05/most-accessible-beaches/$7 Track Chair Google Map: https://accessibleadventures.net/product.html#/Universal Changing Table map:https://www.changingspacescampaign.com/https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
There are SO many complex emotions that come along with the question of potentially having more kids- ESPECIALLY if you have one (or in my case, two) that have severe medical needs. There are many pros and cons to weigh and it's something that has been weighing heavy on my heart lately as my husband and I (and our kids) get older. Join me for a good old fashioned solo episode this week as I share my internal struggle with this and what I have come to realize lately. https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
This week I sit down with founder and host of The Rare Life, Madeline Cheney. She started her podcast in 2020, but the seed was planted 3 years prior—when doctors found troubling results at her 20-week ultrasound that pointed to a rare syndrome during her pregnancy with her second child. She and her husband Juston have two beautiful children, their 7-year-old daughter Wendy, and their now 5-year-old son Kimball. I have been a long time fan of the Rare Life, so I was so excited to talk with Madeline and learn more about her and her family's unique journey. We talk about ALL the things including what is was like during her pregnancy knowing her son had a rare condition, our not so great first encounters with Palliative Care, the family dynamics between a disabled and non disabled siblings, family planning/IVF, and so much more. We also touch on a few of my favorite episodes of The Rare Life which are linked below for you all to check out! Happy listening, ya'll!https://therarelife.org/https://www.instagram.com/the_rare_life/?hl=enhttps://www.facebook.com/p/The-Rare-Life-Podcast-100039719031110/ Episode 130: Fearful of Child Loss/Anticipatory GriefEp. 95: The Parable of the Pain ScaleEp. 99: Family Planning When You Have a Medically-Complex Child w/ Amanda Griffith-AtkinsEp. 19: The Story of Clairehttps://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Bienvenue sur RARE à l'écoute, la chaîne de podcast dédiée aux maladies rares. Pour ce cinquième épisode dédié au déficit en sphingomyélinase acide ou ASMD, nous recevons Mme Marie-Christine Gazzola, maman d'un patient de 25 ans, touché par un déficit en sphingomyélinase acide. Nous abordons aujourd'hui le diagnostic du déficit en sphingomyélinase acide, les symptômes qui peuvent orienter les médecins ainsi que la prise en charge de cette maladie rare. Nous évoquerons également l'association Vaincre les Maladies Lysosomales, ou VML, et ce qu'elle apporte aux patients. L'orateur n'a reçu aucune rémunération pour la réalisation de cet épisode. Invitée : Mme Marie-Christine Gazzola, maman d'un patient de 25 ans, touché par un déficit en sphingomyélinase acide. L'équipe : Virginie Druenne - Programmation Cyril Cassard - Animation Hervé Guillot - Production Crédits : Sonacom
Bienvenue sur RARE à l'écoute, la chaîne de podcast dédiée aux maladies rares. Pour ce quatrième épisode dédié au déficit en sphingomyélinase acide ou ASMD, nous recevons le Dr Wladimir Mauhin, médecin interniste au sein du service de médecine interne du groupe hospitalier Diaconesses Croix Saint-Simon à Paris et membre du CETL, le Comité d'Évaluation du Traitement des maladies Lysosomale. Nous abordons aujourd'hui les enjeux de la prise en charge des patients atteints d'ASMD, la mise en place de cette prise en charge ainsi que le suivi proposé aux patients. Nous évoquerons également les médecins impliqués dans cette prise en charge et la coordination des soins, notamment avec les pneumologues. L'orateur n'a reçu aucune rémunération pour la réalisation de cet épisode. Invité : Dr Wladimir Mauhin, médecin interniste au sein du service de médecine interne du groupe hospitalier Diaconesses Croix Saint-Simon à Paris et membre du CETL, le Comité d'Évaluation du Traitement des maladies Lysosomale https://hopital-dcss.org/ https://www.cetl.net/ L'équipe : Virginie Druenne - Programmation Cyril Cassard - Animation Hervé Guillot - Production Crédits : Sonacom
Bienvenue sur RARE à l'écoute, la chaîne de Podcast dédiée aux maladies rares. Pour ce troisième épisode sur le déficit en sphingomyélinase acide ou ASMD, nous recevons le Dr Anaïs Brassier, pédiatre au sein du service des maladies métaboliques de l'hôpital Necker-Enfants Malades à Paris, clinicienne du centre de références des maladies héréditaires du métabolisme de l'enfant et de l'adulte de l'hôpital Necker, et présidente du Comité d'Evaluation du Traitement des maladies Lysosomales. Nous abordons aujourd'hui le déficit en sphingomyélinase acide chez l'enfant, ses spécificités chez ces jeunes patients, les formes frontières, le diagnostic de la maladie, les diagnostics différentiels à écarter, la prise en charge recommandée chez les enfants et le suivi proposé. Pour aller plus loin dans la connaissance de cette pathologie, nous vous donnons rendez-vous sur notre site internet www.rarealecoute.com. L'orateur n'a reçu aucune rémunération pour la réalisation de cet épisode. Invitée : Dr Anaïs Brassier – Hôpital Necker Enfants Malades – APHP Paris https://hopital-necker.aphp.fr/metabolisme-pediatrique L'équipe : Virginie Druenne - Programmation Cyril Cassard - Animation Hervé Guillot - Production Crédits : Sonacom
Bienvenue sur RARE à l'écoute, la chaîne de podcast dédiée aux maladies rares. Pour ce deuxième épisode dédié au déficit en sphingomyélinase acide ou ASMD, nous recevons le Dr Karine Mention, pédiatre au sein du Pôle Enfant de l'Unité Métabolisme du CHU de Lille et praticien du Centre de Référence des Maladies Héréditaires du Métabolisme de la filière G2M. Nous abordons aujourd'hui les signes d'alerte qui doivent évoquer un déficit en sphingomyélinase acide ainsi que la mise en place du diagnostic de cette maladie rare. Nous verrons également quels diagnostics différentiels écarter et à qui adresser les patients touchés par l'ASMD. L'orateur n'a reçu aucune rémunération pour la réalisation de cet épisode. Invitée : Dr Karine Mention, pédiatre au sein du Pôle Enfant de l'Unité Métabolisme du CHU de Lille et praticien du Centre de Référence des Maladies Héréditaires du Métabolisme de la filière G2M https://www.chu-lille.fr/services/centre-de-reference-des-maladies-hereditaires-du-metabolisme L'équipe : Virginie Druenne - Programmation Cyril Cassard - Animation Hervé Guillot - Production Crédits : Sonacom
Bienvenue sur RARE à l'écoute, la chaîne de podcast dédiée aux maladies rares. Pour ce premier épisode dédié au déficit en sphingomyélinase acide ou ASMD, nous recevons Le Professeur Lavigne, médecin interniste, chef du service de médecine interne Immunologie clinique du CHU de Angers et coordonnateur adjoint du Centre de compétences maladies héréditaires du métabolisme de la filière G2M. Nous abordons aujourd'hui ce qu'est un déficit en sphingomyélinase acide, la fréquence de cette maladie, ses principaux symptômes, son évolution et vers qui adresser ces patients. L'orateur n'a reçu aucune rémunération pour la réalisation de cet épisode. Invité : Professeur Lavigne, médecin interniste, chef du service de médecine interne Immunologie clinique du CHU de Angers et coordonnateur adjoint du Centre de compétences maladies héréditaires du métabolisme de la filière G2M https://www.chu-angers.fr/offre-de-soins/medecine-interne-immunologie-clinique-52959.kjsp?RH=1435581521421 L'équipe : Virginie Druenne - Programmation Cyril Cassard - Animation Hervé Guillot - Production Crédits : Sonacom
This week I sit down with the beautiful, wise and talented, Alena Kupchella Gourley. Alena is a Licensed Social Worker, Clinical Hypnotherapist, psychic, medium and spiritual guide, who specializes in hypnotic healing and past life regression. Alena works with her clients to heal current or past relationship issues, physical, mental or emotional traumas or pain, such as phobias, anxieties, addictions, depression and anxiety, improving sports performance, stress management, weight loss and a positive body and food relationship. Self-Love, Self-Acceptance and Self-Forgiveness is the driving force behind her work. After Roman's diagnosis, I dove into all sorts of different therapies- anything to help me get past all the depression and anxiety I was feeling. My sessions with Alena have been so healing and transformative for me, so I'm so excited to share our conversation with you all. The way Alena has uses the grief and trauma she has experienced in her life as a way to grow and evolve spiritually and continue to help others heal is so inspiring to me. *Trigger warning for this episode: child loss, stillbirthLearn more about Alena and the services offered at http://www.celebrateeverystep.comFind her podcast at https://celebrateeverystep.com/blog/You can find more content and community interaction at http://www.facebook.com/celebrateeverystep And on http://www.instagram.com/celebrateeverystep Free guided meditation and hypnosis sessions at http://www.youtube.com/user/alenakg Schedule a free consult call and Find upcoming sessions, classes and courses athttps://celebrateeverystepscheduling.as.me/https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
It's been a whirlwind month, so I'm catching you all up on what's been going on with us lately during this episode. I also touch on some of the inevitable feelings of jealousy I felt over the holiday and how I was able to move past them. Happy Listening, friends! https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
This week I have my friend, Brittany Markham, on the podcast to chat all things fundraising! Guys, I am in awe of all that Brittany has been able to accomplish since her son Damian's ASMD diagnosis. She has raised over a million dollars toward research for treatments for ASMD. Over. One. Million. Dollars. As I'm sure you all know, the pressure us rare parents feel to raise money for our children's diagnosis' on top of ALL the other stresses that come along with raising a child living with a rare disease is no joke. This episode we talk about (rare disease) mom guilt, what it's like to witness our kid's regression, how Brittany manages it all, fundraising expectations, and her journey with her son Damian's diagnosis. Happy listening, friends! Follow along Damian's journey:https://www.savedamian.com/YoutubeInstagramFacebookTikTokGoFundMeListen to our other episode with fellow ASMD mama, Taylor Sabky: https://podcasts.apple.com/us/podcast/family-planning-after-a-diagnosis-with-special/id1621317686?i=1000589245647https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
I'm officially a workin' woman again, guys. Okay, well let me clarify- a PAID working woman :)Join me in this episode as I give some life updates on what we've been up to and the feelings and emotions I have had as I made the decision to go back to work (super part time). Happy listening, friends!If you feel called to donate to help the innocent children who are being affected in the Gaza and Israel Emergency you can do so HERE.Donate to the International Red Cross HERE.https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Have you experienced FOMO as a special needs parent? Of course you have. We all have. In fact, for us, it's a daily struggle. There are SO many more things for us to consider when asked to do something: is it handicap accessible? Will it be too much stimulation and trigger more seizures? How many people will be there? Will they be exposed to too many germs? What if they get sick again and end up back in the hospital? Will there be somewhere where we can change them? This week I reflect on a couple significant FOMO experiences I have had lately with my kids, how I handled them, and how I refocused that grief into gratitude. Happy listening, friends! Pre-order your CAREGIVER COMPASS here!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Has this thought ever crossed your mind as a parent with a life limiting illness or condition? You are not alone. I recently had a listener reach out to me and suggested this as an episode topic (thanks Sara!). She said she has struggled with the thought that somehow her son's terminal diagnosis was her "karmic wake up call" to be a better person and couldn't shake the feeling that maybe some poor choices she made in her 20's led her to this. Am I a believer in karma? Absolutely. HOWEVER, I definitely do NOT think that our children's diagnosis' are just bad karma coming for us. I cannot lie though; the thought did cross my mind at the beginning of our journey. This episode I dive deep into this idea and all my thoughts surrounding it. Enjoy! Do you have thought's on this topic? Or maybe you have another topic you would love to hear me cover on a future episode? Contact me HERE. I'd love to hear from you!If you are loving the show, please take a moment to drop a rating and review below! Learn more about May We Help HERE.Listen to Jillian's speech about the impact they have had on her family HERE.Learn more about Visionaries + Voices HERE.https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Whew! The past few months have been BUSY. I'm going to catch you guys all up on this episode. As always, thanks for joining me on this wild ride. Happy listening, friends!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
There was a time, back at the beginning of our children's diagnosis, where we thought traveling was just no longer an option for us. We just didn't see how it was doable to ever go on a vacation with not just one, but two children in wheelchairs (and A LOT of medical equipment). Just the thought of it alone was incredibly overwhelming. As we gear up for our third family road trip with our kids next week, I wanted to share some of my top travel tips with you on ways to decrease your pre-trip anxiety and ensure the smoothest trip possible with your kiddos. Traveling with medically complex kids may take a little more planning for us and strategic packing, but it's definitely doable! https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Welcome back! Join me this week as I fill you all in on what's been happening in our life over the past couple months (and why my stress and anxiety has been through the roof lately), the importance of taking care of your mental health as a caregiver parent, and why I decided it was time to start taking my anti-depressants again. https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Happy (almost) Father's Day to all you incredible Dad-vocates out there. This week I spoke with one exceptional Father, Daniel DeFabio, that saw the injustice of the rare disease world after his son Lucas, was diagnosed with Menkes Disease and decided to take action. Daniel has made a career out of spreading awareness and honoring his son's memory as a rare disease advocate. He co-founded Disorder, the rare disease film festival, as well as the Disorder Channel, is a writer and blogger in residence for Courageous Parents Network, and is the Director of Community Engagement at Global Genes. I truly appreciated how open, honest, and real he was during our conversation. We talk about everything from diagnosis, stages of grief, his career transition to advocacy, how he's making an impact on the rare disease world, what role hope plays in his life, and so much more. Happy listening, friends! Daniel's social links: https://www.facebook.com/rarediseasefilmfestival https://www.instagram.com/disorderrarediseasefilms/https://www.linkedin.com/company/disorder-the-rare-disease-film-festival/https://twitter.com/DisorderRareRead Daniel's thoughts on hope here.Learn more about the Disorder Channel here.Learn more about Global Genes here.https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
It's hard to believe that this past weekend has marked FOUR whole years of being on this rare journey. I have been reflecting a lot the past week on how much my life has changed over the past four years and everything I have learned since becoming a rare parent. Join me during on episode as I discuss some of my top take aways of navigating this crazy beautiful life. Listen to Jillian chat with the ladies of the Nari Nest podcast here: https://podcasts.apple.com/us/podcast/ep-4-self-care-perspective-of-a-rare-disease-mama/id1687855913?i=1000614641791https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
This conversation with Richard Phu is a breath of fresh air for people who love hearing about innovative ideas, thoughts, and outcomes. Richard demonstrated to me how one can embody innovation and bring it to life very easily, whilst achieving freedom and joy along the way.He's gone from one career path to another, changed countries, and put on a global summit for men. Today he continues to empower others through example and helps businesses become MORE through his services.I have pleasure in introducing to you, Richard Phu.Here's a summary of our conversation:08:20 - resolving the misunderstanding with the VA15:13 - building solid relationships from vulnerability20:10 - Like, Did, More (it's a practice)28:00 - creating the Mens Virtual Summit40:45 - tuning the machine of businessand much more…Enjoy!Here's some information about our guest, Richard:Richard Phu, MD of Outsourcing AngelRichard Phu, Australia's Business Freedom Designer, coaches business owners todesign scalable businesses with automation, systematisation & virtual assistants. AsMD of Outsourcing Angel, he's transformed the VA agency, allowing the CEO to be free while maintaining double-digit growth.Something Interesting About YouI used to be a semi pro-gamer (Computer games)What Are You Famous For?Designing business processes with automations and virtual teams, so that the business can run without youThe YouTube Episode:https://youtu.be/ZFaf-fQoGPoThe purpose of the 6 Star Business is to help businesses find more meaning, purpose and profits in their endeavours. We seek to 'do it differently' and encourage everyone to rise above the status quo to do what it takes to be different: with meaning, purpose and intention. With those key ingredients, you'll be on your way to 6 Stars faster than you realise! If you'd like to get in touch please contact us at contact@6star.business
Are you wondering how you could best support the parent in your life who's child may have just been diagnosed with something life altering or is dealing with a lot of complex medical issues? You are not alone! This episode I share all the great responses I got from listeners after taking to social media to pose this question as well as sprinkle in some of our own personal experience and what we found to be most helpful when we were stuck in serious survival mode with our kids after receiving their diagnosis'. Feel free to share this episode with any friends or family in your life who want to be there for you, but just don't know what kind of support you need. Happy listening, friends!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
I am back from my unexpected break and I am here to catch you all up on what has been happening in our family the past two months. For those of you who are unaware, our son, Roman, just got back home after a 55 day stay at our children's hospital (49 of which were spent in the PICU). He was intubated two times during his hospitalization (yes, two) for a total of 19 days while battling viruses that turned into a viral pneumonia and then developed a bacterial pneumonia which led to a very scary episode of septic shock. This was a pretty emotional episode for me to record, as this whole situation is still pretty fresh so I do want to put a *content warning* in for those who are triggered by hospitals, ICU, or just have medical trauma in general. Although this experience was the toughest and scariest that our little family has had to endure, it serves as a good reminder that even during our darkest times, there is always light to be seen if you look close enough. We are overjoyed that Roman is back home now and doing well. It is nothing short of miraculous! Thank you all for bearing with me as we contiunue to settle back in to "normal" life after having everything on pause during Roman's recovery!Watch our reel of the day we got to bring Roman home!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Welcome back (and happy Valentine's Day)! This week I dive deep into the importance of surrounding yourself (and your child) with the right team of medical professionals. I truly believe that parents and doctors are a collaborative team (especially when it comes to caring for our rare disease/medically complex kiddos) which is why it is VITAL that you are able to work well together. Our children's lives (quite literally) depend on it. Let's get into it! https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
This week I sat down with Angel Aid Operations Manager and fellow rare mama, Megan Loden. Megan talks all about her experience as a Mom with identical twin girls both living with Familial Cerebral Cavernous Malformations and everything that comes along with it. We discuss career transitions after a diagnosis, the important role social media plays for a rare disease parent, how a rare diagnosis can affect your relationship with your spouse, and finding the humor amongst the heaviness. Megan is also currently working on the HODA Board of Directors in Operations in her “free” time. Learn more about ANGEL AID here.Follow Megan on Facebook, or Instagram and check out her websitehttps://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Welcome back! This was a BIG week for us... Our baby turned three! Hear all about Stella's birthday recap + my word(s) for 2023: LETTING GO. I want to go into this next year feeling MUCH lighter and this episode I tell you ALL the ways I plan on doing that. Happy listening, friends!PS. My apologies for all the background/fumbling around noises during this episode. At times it sounds like I am quite literally wrestling with the mic, so I will be much more conscious of this when I record the next one :) https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
As 2022 winded down, I compiled a list of our top moments of the year that I share with you in this episode. Looking back on the past year, I realized that we have accomplished a hella-lot as a family and I am taking this moment to reflect on it all. I have high hopes that 2023 will have even more good things in store for us and our babies!I'd love to hear some of your amazing moments or big accomplishments from the past year! DM me on Instagram @confessionsofararediseasemama or through the contact page on my website to submit some of your most special moments of 2022 and I will read them during the next episode!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
My apologies for the late upload! Life has been crazy the past week, as I'm sure it's been for all of you as well- all that holiday madness, right?! This episode I discuss how I handled some triggering feelings of grief and sadness that came over me recently after I found out about the passing of a little girl in the rare disease community. https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Welcome back! This week I catch you guys up on what's been going on in our lives over the past seven days (SPOILER ALERT: Roman FINALLY started his experimental med!) December can be a stressful and VERY busy month for everyone (but most especially us, special needs parents), so I also discuss how our family is making it a priority this month to do plan AND execute some fun and festive activities. Learn more about A Kid Again: https://akidagain.org/https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
My apologies for this episode being a little late- I'm getting over my third (yes, third) illness of the month (when will it end?!) This week I sat down with a dear friend of mine, Taylor Sabky, to talk all things IVF and family planning after a diagnosis. Taylor is a teacher and fellow ASMD mama whose brave warrior, Purnell, gained his wings back in 2019. Taylor is someone I have looked up to as a rare mother and sought out guidance from in the early days of Roman & Stella's diagnosis journey. What her and her family has been able to accomplish in regards to treatment advancement for ASMD and fundraising (they raised $750,000 in ONE month-yes, you read that right- ONE MONTH) has been nothing short of incredible. She continues to honor her son's memory by staying very active in the rare disease community and through her advocacy work by sitting on the board of the National Niemann Pick Disease Foundation. Taylor tells us about the decision her and her husband made to continue to grow their family via IVF after receiving Nell's diagnosis and what the process was like being pregnant while simultaneously taking care of her medically complex child and all the feels that went along with it. Learn more about the National Niemann Pick Disease Foundation and all the amazing work they do here.Learn more about Purnell's brave fight with ASMD (otherwise known as Niemann Pick Disease Type A) here.https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Adenovirus, COVID, RSV.... Will will it end?! Join me as I recap our crazy Thanksgiving week.It's #GIVINGTUESDAY! If you are in a giving mood, please check out some foundations that are very near and dear to my heart:Donate to Wylder Nation Foundation to help in the fight for my children's lives: https://wyldernation.org/join-the-fight/you can also donate through our Go Fund Me:https://www.gofundme.com/f/save-roman-and-stellaDonate to Parental Hope:https://parentalhope.org/donate-now/Donate to Building Blocks for Kids:https://bb4k.org/https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
I was planning on talking about something totally different this episode and then my husband tested positive for COVID and my plans changed :)We have successfully been keeping this dreaded virus out of our house for the past three years.... until now. The thought of our kids getting COVID has haunted us since this mess all began (much like every other parent of medically fragile children). This episode I talk all about how you can only control so much when it comes to your children's health and at a certain point you have to relinquish that control, remind yourself that you've done all you can do to protect your kids and accept that whatever will be, will be!#GIVINGTUESDAY is coming up next week and there are a couple foundations that are VERY near and dear to my heart:Donate to Wylder Nation Foundation to help in the fight for my children's lives:https://wyldernation.org/join-the-fight/donate.htmlyou can also donate through our Go Fund Me:https://www.gofundme.com/f/save-roman-and-stellaDonate to Parental Hope:https://parentalhope.org/donate-now/https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
I was so eager to sit down and chat with my special guest this week, the incredible Lauren Lowery. Lauren is a wife, mama to two (one of whom is diagnosed with the ultra rare disease, Aicardi-Goutieres syndrome), ICF certified and trauma-informed life coach for special needs moms, and podcast host of Overcome the Overwhelm. What I love most about Lauren (besides her soothing and cheerful "disney princess-esque" voice) is her ability to get to the root issues of WHY some of us are stuck living in survival mode. Through her 12 week coaching program, she helps other moms get out of survival mode and into a life that is easier, peaceful, and balanced. I also share some SUPER exciting news that we received last week!Happy listening! Learn more about Lauren's 12 week course here.Follow Lauren on insgram: @lauren_nia_loweryListen to Overcome the Overwhelm for Special Needs Momshttps://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Fall is hands down my favorite season- I love the changing leaves, cooler weather & crisp fall air, pumpkin flavored everything and the anticipation of the upcoming holiday season. But you know what I don't love about fall? That's right- the dreaded cold and flu season. Snotty noses and coughing EVERYWHERE. This year seems to be worse than previous ones and our house has finally succumbed to whatever has been making its way around. This week I tell you all about our unexpected trip to the ER and the importance of speaking up and advocating for your child, should you end up in the hospital with your little one this season too. https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
This week I finally get to share the big news that we have with you all!Learn more about Parental Hope and donate to their foundation:https://parentalhope.org/https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
This week I had a wonderful conversation with the fabulous Sabrina Nicole Talerico Miller. Sabrina is a NSCA certified Personal Trainer, a Certified PN1 Nutrition Coach, Wife, Mom, and entrepreneur who specializes in vegan and vegetarian coaching. As a busy mom herself, she sheds some light and shares some tips on how we, as caregivers, can all incorporate small (and very realistic) changes into our daily lives to be the healthiest and happiest versions of ourselves. (And guess what? It doesn't involve spending hours at the gym because let's be real- ain't nobody got time for that- especially us, special needs mamas). Happy listening!Sabrina's links:http://www.bodiesbybrina.com/Follow her on instagram: https://www.instagram.com/bodies.by.brina/https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram:https://www.instagram.com/confessionsofararediseasemama/https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/
Join me as I recap Roman's big FOURTH birthday celebration! I also look back on how amazing and difficult the past four years of being a mother have been. We have come a long way from where we started and I can say without a doubt that the person who is sitting here typing this is not the same person she was four years ago (in all the best possible ways)! Check out the birthday reel I posted in honor of my sweet boy turning four: https://www.instagram.com/p/CixJmzSLQkl/If you feel compelled, please donate $4 for Roman's 4th birthday to help fast track treatments for our babies (and all other babies fighting ASMD): https://www.gofundme.com/f/save-roman-and-stellaAs always, thanks for tuning in this week!
In this episode, Ayesha discussed the FDA approval of Sanofi's enzyme replacement therapy Xenpozyme for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD), a rare genetic lysosomal storage disease, in adults and pediatric patients. The drug is administered intravenously every two weeks and in clinical trials, demonstrated significant improvements in lung function as well as reductions in spleen and liver sizes. Hear more about the rare, fatal disease and the new drug approval for it.Ayesha also talked about Medtronic's new partnership with former Disney star Jennifer Stone on a new ad campaign for its diabetes tech, including the smart insulin injector InPen. Hear about Jennifer's story as a type 1 diabetes patient and how the InPen helps patients like her simplify their diabetes management. Through the ad campaign, Medtronic is hoping to increase awareness about advanced diabetes tech like the InPen. The company is also working on new connected tech to integrate its different diabetes device offerings.Read the full articles here:Sanofi's Enzyme Replacement Therapy Xenpozyme Wins FDA Approval for Rare Disease ASMDMedtronic's InPen Gets Backing from Disney Star Jennifer Stone in Diabetes Tech CampaignFor more life science and medical device content, visit the Xtalks Vitals homepage.Follow Us on Social MediaTwitter: @Xtalks Instagram: @Xtalks Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured
This episode I'm catching you up on what's been happening in our week and discussing the importance of learning to let grief and joy co-exist. As summer comes to a close, it's time for kid's to go back to school and cue: all the back to school photos that are smeared all over my instagram & facebook walls. Last year at this time, seeing these photos was a painful reminder that my children WEREN'T going to school. Yet another huge milestone/experience that we were missing out on. Listen in on how I overcame that hump and learned that it's okay to grieve those "normal" milestones we are missing out on with our children, but at the same time have so much joy and gratitude for the experiences we DO get with our kids on this special journey. Also... BIG NEWS! We found out this week that the FDA has APPROVED the first and only treatment for (the non-nuerological symptoms) ASMD! Read all about it here: https://www.globenewswire.com/news-release/2022/08/31/2507978/0/en/Press-Release-XenpozymeTM-olipudase-alfa-rpcp-approved-by-FDA-as-first-disease-specific-treatment-for-ASMD-non-CNS-manifestations.html
Here are the links for everything discussed in Episode 79. Times are also below so feel free to skip around and get to the updates that interest you. (1:12) FDA authorizes updated booster doses for COVID19 (5:29) FDA approves Xenpozyme for ASMD PAXLOVID Patient Eligibility Screening Checklist Tool for PrescribersCDC website for COVID information - get boosted!FDA monkeypox response websiteConnect with The Rx Daily Dose:Twitter Instagram YouTube Linkedin WebsiteEmail: therxdailydose@gmail.comConnect with Ian Parnigoni PharmD. on social media:Twitter Instagram Linkedin ★ Support this podcast on Patreon ★
Thanks for tuning in to our 10th episode- we finally made it to the double digits! Confessions of a Rare Disease Mama will be taking a "summer break" for a few weeks and returning in August with some bad ass guests! Stay tuned.If you are loving this podcast and feel called to do so, please scroll down and rate/review us! https://www.confessionsofararediseasemama.com/Have an idea for an episode or a guest in mind that you think I would love to talk to? Contact me here.DM me on instagram @confessionsofararediseasemamaLearn more about our children's fight with ASMD: https://www.saveromanandstella.com/
This episode I talk about three of the 5 minute journaling techniques I do to help "declutter my brain" when I'm feeling overwhelmed and stressed. I challenge you all to try one and let me know how you feel afterwards!1. Brain Dump2. Gratitude Rampage3. Fear Burn Thanks for listening! Please share this episode with any friends and family that you think may benefit from listening and don't forget to subscribe, rate, and review if you are enjoying this podcast!Visit my website: https://www.confessionsofararediseasemama.com/Follow me on instagram: @confessionsofararediseasemamaDonate to help put an end to ASMD
I always tend to get into a weird funk/depression immediately following any major holidays or celebrations. Easter was no exception this year. The older my kids get, the more I am reminded that our holidays will look much different than we had always imagined them. This episode I share the tactic I have used to help combat those feelings and not let them get in the way of enjoying these special moments with my children and making happy memories each holiday. Please don't forget to leave a review if you are enjoying the episodes! Or even if you're not- constructive criticism is always welcome :) Have an episode idea? A guest in mind? Just want to connect? Visit the contact page through my website and drop me a line! http://www.confessionsofararediseasemama.comLearn more about our children's battle with ASMD: http://www.saveromanandstella.com
Welcome back for the second episode of Confessions of a Rare Disease Mama!This week I wanted to dive a little deeper into our treatment journey for our kids, the importance of following our "parental instincts," and how all of us mom's have a secret power deep within to GET. SHIT. DONE. Even when the odd's are stacked against us. Links for today's episode:Learn more about our children's journey with ASMD and fundraising efforts: https://www.saveromanandstella.com/Learn more about Wylder Nation Foundation: https://wyldernation.org/Donate to our cause: https://gofund.me/58005e69
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
PeerView Kidney & Genitourinary Diseases CME/CNE/CPE Audio Podcast
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
PeerView Kidney & Genitourinary Diseases CME/CNE/CPE Video Podcast
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
Go online to PeerView.com/NPH860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Chronic visceral acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease type B, is a rare and progressive autosomal recessive lysosomal storage disorder that causes progressive accumulation of sphingomyelin and other lipids in tissues throughout the body and is associated with significant morbidity and reduced life expectancy. The diagnosis of chronic visceral ASMD is often delayed by months or years, because its complex signs and symptoms overlap with other diseases. In this activity, leading experts review current consensus recommendations for the diagnosis of ASMD in pediatric and adult patients. The faculty also review the latest safety, efficacy, and tolerability data on emerging therapies and explore patient cases to offer practical strategies on how to optimally manage patients with chronic visceral ASMD. Upon completion of this activity, participants should be better able to: Diagnose individuals with ASMD through the application of recent consensus recommendations, Cite available efficacy, safety, and tolerability data on emerging therapeutic modalities for the treatment of patients with ASMD, Examine the potential impact that ongoing clinical trials of emerging therapeutic approaches may have on the future treatment of patients with ASMD.
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