Podcasts about phelan mcdermid syndrome

Wall Street started the new trading week in the green as investors welcomed the latest tariff exemption from Trump in the form of smartphones and computers in addition to other devices and components like semiconductors. The Dow Jones rose 0.78% on Monday, the S&P500 gained 0.79% and the tech-heavy Nasdaq ended the day up 0.64%. While the tariff exemption is welcome right now, Trump teased on Sunday that the exemptions are not permanent, i.e. the Trump tariff rollercoaster continues.In Europe on Monday, markets closed higher as Trump exemptions boosted investor sentiment, temporarily. The STOXX 600 rose 2.7%, Germany's DAX gained 2.6%, the French CAC added 2.4% and, in the UK, the FTSE100 ended the day up 2.4%.Across Asia to start the week, markets in the region rallied as investor appetite for growth and tech stocks rose on Trump's latest exemption announcement. Hong Kong's Hang Seng rose 2.4%, China's CSI index added 0.23%, Japan's Nikkei rose 1.18%, and South Korea's Kospi Index ended the day up 0.95%.Locally on Monday, the ASX200 started the new trading week with a significant rise of 1.3% as investors hold high hopes tariff relief after President Trump began scaling back some tariffs in recent days. Mining stocks regained momentum yesterday with the materials sector rising %, while 10 of the 11 sectors ended the day in the green.Neuren Pharmaceuticals soared 21% yesterday after the drug maker announced the US FDA has approved the outcomes of a key trial of the company's second drug candidate for the treatment of Phelan-McDermid Syndrome in Children, which paves the way for the company's final US FDA approval of the drug before it hits the market.Gold miners are again drawing investor attention as the price of the precious commodity rallied to yet another fresh record high on Monday and UBS lifted its gold price forecast for the second time in a week, this time to an average of US$3500/ounce in 2026.On the commodities front this morning, oil is trading 0.18% higher at US$61.61/barrel, gold is down 0.74% at US$3212.46/ounce and iron ore is up just 0.06% at US$99.95/tonne.What to watch today:The Aussie dollar has further strengthened against the greenback overnight to buy 63.24 US cents, 90.50 Japanese Yen, 48.11 British Pence and 1 New Zealand dollar and 8 cents.Ahead of Tuesday's trading session here in Australia, the SPI Futures are anticipating the local market will open the day up 0.23% tracking global market gains overnight.Trading Ideas:Bell Potter has raised the 12-month price target on De Grey Mining (ASX:DEG) from $1.97 to $2.58 and maintain a hold rating on the gold exploration and development company after Gold Road Resources announced its intention to vote in favour of the proposed all-scrip acquisition of DEG by Northern Star, as Gold Road Resources has an approximate 17.3% stake in DEG.Trading Central has identified a bullish signal on SRG Global (ASX:SRG) following the formation of a pattern over a period of 21-days which is roughly the same amount of time the share price may rise from the close of $1.25 to the range of $1.38 to $1.42 according to standard principles of technical analysis.

We are back with "The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope"! We continue our mini-series featuring the 2023 PMSF Grant Winners! In this episode, Lauren is talking to Dr. Bridgette Moffitt from Clemson University. Dr. Moffitt received the 2023 PMSF Innovation Award for her project titled, “Functional Assessment of Candidate Treatments for Phelan-McDermid Syndrome”. Tune in to hear about her research, which is setting the stage for precision, individualized medicine by testing candidate drugs on cell lines from actual individuals with Phelan-McDermid syndrome! And don't forget to follow us to never miss an episode!

Our podcast is back! And with a new name chosen by you! "The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope". In this episode, Dr. Lauren Schmitt, the Chief Science Officer of the Phelan-McDermid Syndrome Foundation (PMSF), restarts the podcast with the first of three interviews with our 2023 Grant Awardees. Lauren is joined by Dr. Julia Dallman, an Associate Professor at Miami University, whose project titled, “Validation of a Novel, Inexpensive, Home-Based Gastrointestinal Transit Test among People with Phelan-McDermid Syndrome” won the 2023 PMSF Translational Research Award. They discuss how Dr. Dallman got into the Phelan-McDermid syndrome field, how basic scientists can use zebra fish to study motility issues, and the latest on Julia's project! Plus, you'll have to tune in to know why they are talking about blue poop!To find out more about Julia Dallman's lab and research: https://dallmanlab.weebly.com/To hear more about the latest in GI research, check out Dr. Bennet, Still, and Dallman present at the 2024 PMSF Family Conference: https://youtu.be/IP4eaimpKM0?feature=sharedHave ideas for a future podcast? Email your recommendations to info@pmsf.org!

Kate chats with Dr. Katy Phelan, Scientific Advisor to the Foundation, namesake for the syndrome, and co-Founder of the Phelan-McDermid Syndrome Foundation (PMSF). They discuss her work identifying the first case of Phelan-McDermid syndrome, and the story behind her efforts to gather families. With the help of Co-founders Sue Lomas, Curtis Rogers and Nick Assendelft, this led to the establishment of a community, and ultimately the Foundation. Katy reflects on her favorite memories, her role now, and describes the evolution of genetic understanding of Phelan-McDermid syndrome over the years. 2022 Founders presentation: https://www.youtube.com/watch?v=BpECSEFxuSc Genetic testing guide in Phelan-McDermid syndrome: https://pmsf.org/diagnosis/

Kate engages Dr. Luigi Boccuto, Associate Professor at Clemson University, about his work studying genes other than SHANK3 and their impact in Phelan-McDermid syndrome. They highlight a recent publication authored by Dr. Boccuto, Dr. Andy Mitz, and Dr. Audrey Thurm, linked below. Dr. Boccuto describes how multiple genes in the 22q13 region, when altered, can have overlapping impacts on neurodevelopment. Understanding the importance of each of these genes can help improve the management and treatment of Phelan-McDermid syndrome long-term as clinical care moves more towards personalized medicine.  Publication link: https://onlinelibrary.wiley.com/doi/10.1111/cge.14503

This month we feature three representatives from Neuren Pharmaceuticals to answer frequently asked questions about the recent Phase 2 clinical trial, and plans for a Phase 3. Larry Glass, Neuren's Chief Science Officer provides an insightful breakdown of NNZ-2591, the drug that was being tested. Additionally, Liza Squires, Chief Medical Officer, and Nancy Jones, VP of Clinical Development, offer an overview of the safety, tolerability, and efficacy results. Important links: Phase 2 top line results: https://pmsf.org/document/neuren-phase-2-trial-investor-presentation/?fbclid=IwAR2ytXd7HXVfjJ9hFxwUVlVgJvI_KkczBTpGJCNUOMLTzgUAI6lPy1ZZO9g Phase 2 inclusion and exclusion criteria https://clinicaltrials.gov/study/NCT05025241?cond=Phelan-mcdermid%20syndrome&term=NNZ-2591&rank=1#participation-criteria

Kate chats with Dr. Tony Persico, an Italian clinician and researcher who recently ran a clinical trial testing metabolic support therapy for Phelan-McDermid syndrome. This therapy is an antioxidant/vitamin combination consisting of Coenzyme Q10, Vitamin E, and Polyvitamin B. They discuss the rationale, the study design, positive results, potential side effects, access for families, and next steps.  Learn more about the study here: https://www.oaepublish.com/articles/rdodj.2023.08 Dr. Tony Persico is an active member of the Italian Association for Phelan-McDermid syndrome and the Neuropsychiatric Consult Group.

Kate interviews Carla D'Imperio, fellow PMSF staff member and Family Support Specialist, on a program she leads to support mental health for Phelan-McDermid syndrome caregivers. This program, called Caregiver Support Groups, was started last year with funding from Global Genes and is continuing into 2024. Carla explains the decision to start this program and the positive impact it has made in the community. She delves into the importance of having licensed professionals lead these sessions. And she describes which groupings are offered, how to sign up, and how the program is changing over time. International families are welcome to join and the program is free to families. For more information or to sign up, see: https://pmsf.org/caregiver-support-groups/.

Kate engages Dr. Thomas Bourgeron, genetics expert, PMSF Scientific Advisory Committee member, and longstanding researcher in Phelan-McDermid syndrome. They discuss the importance of studying genetics to better understand disorders like Phelan-McDermid and autism. Dr. Bourgeron explains that in the early 2000's, his lab and others identified a link between the SHANK3 gene and the occurrence of autism. He then explains the scientific journey - from identifying a gene of interest, to testing therapeutics in lab models, and describes a current clinical trial for lithium ongoing in France. He also summarizes his top goals for future research in Phelan-McDermid syndrome. A PMSF blog post on SHANK3 genetics: https://pmsf.org/shank3-in-phelan-mcdermid-syndrome/ A PMSF blog post on Phelan-McDermid syndrome versus autism: https://pmsf.org/phelan-mcdermid-syndrome-and-autism/

Kate highlights Dr. Sid Srivastava, a clinician at Boston Children's Hospital studying Phelan-McDermid syndrome in the Natural History Study. She asks - how did he become interested in rare diseases like Phelan-McDermid syndrome? What does a typical Natural History Study visit look like for families? What research projects is he working on? What are the biggest findings he's seen in studying the syndrome? For enrollment information on the Natural History Study, see: https://pmsf.org/enrollment-is-currently-open-for-phase-ii-of-the-phelan-mcdermid-syndrome-pms-natural-history-study/

Dr. Conny van Ravenswaaij runs an expert Phelan-McDermid syndrome clinic in the Netherlands, and was a leading force behind the European Phelan-McDermid syndrome clinical consensus guidelines. She and Kate discuss the clinical recommendations and how to share them with your clinicians. Conny also covers a clinical trial that she ran on intranasal insulin, and current work studying Ring 22 in Phelan-McDermid syndrome.  Important links: Clinical synopsis of european guidelines: https://ern-ithaca.eu/wp-content/uploads/2023/05/Clinical-synopsis-PMS-1.pdf PMSF conference session on genetics (including Ring 22): https://www.youtube.com/watch?v=EOmPYpim3_8

Kate chats with Jaguar Gene Therapy about the progress the company has made in testing a gene therapy for Phelan-McDermid syndrome over the past couple of years. She asks what steps are still needed to take this therapy to clinical trials (if it proves safe and effective). Also covered: how gene therapy works, the target as SHANK3, ongoing animal testing, and timelines.

Recently, the Phelan-McDermid Syndrome Foundation was successful in applying for and receiving a specific ICD code (International Classification of Diseases code) for Phelan-McDermid syndrome from the Centers for Disease Control (CDC). Kate sits down with Annie Kennedy of the EveryLife Foundation, who has longstanding expertise in what a specific code can mean for progress for rare diseases. Kate asks - what exactly is an ICD code? What does this mean for progress in Phelan-McDermid syndrome research? Why didn't we have one already? Can it be used internationally? What was the process in getting one? What are some examples of progress after getting a code? What is the code not helpful for? Annie Kennedy is the Chief of Policy, Advocacy, and Patient Engagement at the EveryLife Foundation. She also previously served within the Parent Project Muscular Dystrophy and the Muscular Dystrophy Association. Her work includes building strong partnerships with policy makers, federal agencies, industry partners, and alliances to advance research and access in rare disease. She has developed an ICD code roadmap with the EveryLife Foundation, has conducted economic burden studies in rare disease, led efforts for newborn screening, led access efforts after the first therapies were approved by the FDA for Duchenne muscular dystrophy, and much more.

Dr. Kohlenberg and Dr. Rahman are both clinicians with expertise in neuropsychiatric illness in Phelan-McDermid syndrome. They discuss the first signs and symptoms, where to find treatment guidelines, how to connect your clinician with experts, and the difference between neuropsychiatric illness and regression. They discuss top research questions and progress. Kate points out where families can find key resources along the way. Dr. Kohlenberg is a pediatrician with decades of experience in child psychiatry. She is also mom to an adult daughter with PMS who was diagnosed as a result of neuropsychiatric illness, and Tesi has done a lot of work to understand how to best manage this for her daughter and many other people with PMS. She played a leadership role in starting the Neuropsych Consult Group, and is on PMSF's Medical Advisory Committee. Dr. Asif Rahman is a psychiatrist and is currently a fellow in Child and Adolescent Psychiatry on the Research Track at Mount Sinai. He is being funded by PMSF to do more research into neuropsychiatric illness in partnership with the Natural History Study and is being mentored by Dr. Alex Kolevzon.

PYC Therapeutics is a pharmaceutical company developing an RNA therapeutic for Phelan-McDermid syndrome. Dr. Sue Fletcher (Chief Scientific Officer) and Rebecca Simmons (current Group Lead) describe these efforts. Kate asks what exactly are RNA therapeutics? What is this drug targeting and how does it work? What are the timelines and plans going forward? What will be measured to see if the drug is working? What types of challenges are associated with the approach? What can the foundation and families do to support drug development?

In this podcast, Yumi Dille discusses her paper 'Neurodevelopmental profile and stages of regression in Phelan–McDermid syndrome' The paper is available to read here: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.15482 Subscribe to our channel for more:   https://bit.ly/2ONCYiC    ___  Listen to all our episodes:  https://bit.ly/2yPFgTC   __  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 

Dr. Kolevzon has been leading a team of clinicians to develop clinical guidelines for the management and monitoring of PMS. Kate asks - what are clinical consensus guidelines exactly? Which categories of medical care will be included? When will the guidelines be released? How can families best use this information? How are guidelines developed? How have the guidelines changed since the first iteration in 2014? What areas of research have seen the most growth? How can families bring forward patterns they notice to help shape the guidelines as they continue to evolve? Dr. Alex Kolevzon is a psychiatrist and professor at the Icahn School of Medicine at Mount Sinai. He is a long-standing expert in Phelan-McDermid syndrome research as a leader of the PMS Neuropsychiatric Consult Group, the PMS Natural History Study, the PMSF medical advisory committee, and he sees many people with PMS in the clinic.

Why is asking for help so hard? As kids, it was a norm to ask for help, but as adults, we see asking for help as a sign of weakness. Why is that? On today's podcast, my friend Ashley Somers is here to help us learn to get vulnerable, lean on our community, and ask for help. She also wisely shares that so often we miss being present in the present because we are so busy hustling and trying to force our hopes into reality. She helps us learn to live open-handed, ready to ditch our expectations for what God has for us in the here and now. Ashley is a friend of mine from college who has had a very successful career in the corporate world. She has worked for three large global companies — Walmart, Campbell Soup, and she currently works for Unilever. She is married to her husband, Chad, who has a doctorate of musical arts and is a professional opera singer and professor of applied voice. Together they have two children. Their son was born with a rare genetic disorder called Phelan McDermid Syndrome and has a co-diagnosis of Autism. Ashley says, “He has opened our eyes to an entire world of beautiful people with disabilities and the caregivers that help them thrive. We will spend our whole lives seeing, loving and caring for Bear and this special community of people.” To connect with Ashley, feel free to reach out to her @ashleyannesomers on Instagram. As always, feel free to reach out to me -- Carly -- on Instagram as well at @carlycommunicates and for more information on my speaking, writing, and worship leading, check out my website carlycommunicates.com.

Alycia Halladay, PhD, is Chief Science Officer of Autism Science Foundation and has years of experience working to promote and fund autism research. NCSA President Jill Escher talks with her about progress -- and lack thereof -- in autism research over the past 30 years. Highlights: • 30 years ago scientists assumed they could find singular causes and treatments for autism, but the reality turned out to be far more complicated. Autism is many different disorders with different underlying causes and biology. • Though many areas of autism research have seen slow progress, we've seen improvements in early identification, early intervention, and genetics. • To improve research it's very important to create meaningful subgroups of autism where there is sufficient homogeneity to assess etiologies (causes), biological phenomena and treatment response. • The recent Lancet Commission report emphasized practical needs of individuals and families, over basic biology, and introduced "profound autism" as a way to carve out a subgroup of patients needing near-continuous care. • There is no question that autism prevalence is growing, and it's not just about better recognition. • Gene-environment interaction is a key question for autism research. • For families with children with a mutation, such as that in Phelan McDermid Syndrome, genetic findings can be life-changing. • We need to invest in tools that enable the detection of environmental influences on autism risk. • We have not made progress when it comes to treatment of core symptoms of autism; some progress for co-morbid conditions such as anxiety and sleeplessness. • To enable more research on cannabis products we need to move cannabis from DEA Schedule 1 to Schedule 2. Links: Autism Science Foundation http://autismsciencefoundation.org Autism Science Foundation Podcast https://asfpodcast.org Recent paper: Volk HE, Ames JL, Chen A, Fallin MD, Hertz-Picciotto I, Halladay A, Hirtz D, Lavin A, Ritz B, Zoeller T, Swanson M. Considering Toxic Chemicals in the Etiology of Autism. Pediatrics. 2022 Jan 1;149(1). About Autism Confidential (AutismConfidential.org) is a production of the National Council on Severe Autism. NCSAutism.org. All views expressed on Autism Confidential are those of the individual speakers, and do not necessarily reflect the views of NCSA or its board of directors. The podcast is for informational purposes only and does not offer any medical or legal advice. Producing donated by Lee Syatt Consulting - www.leesyattconsulting.com

RARE MAMAS RISING- EPISODE 009  Nutrition Coaching for Rare Mamas with Dietitian Nutritionist and Rare Mom Chardell Buchanan Chardell Buchanan is a Registered Dietitian Nutritionist who offers nutrition coaching to moms of children with disabilities. At the age of two and a half, Chardell's son, Ben, was diagnosed with a rare genetic disorder called Phelan-McDermid Syndrome. After Ben's diagnosis, her life was busy, and survival was the goal. Soon she realized not prioritizing her own health was affecting how she showed up for her entire family. She started using her professional skills as a dietitian nutritionist to plan and make healthy meals and snacks. As a parent of a disabled child, she understands firsthand that taking good care of yourself and eating healthy can feel overwhelming. She implements easy-to-use tools that make healthy eating effortless. In this episode, she's teaching us how to do the same. With ideas and strategies to make meals simple and nourishing, she's helping mamas like us discover healthy eating so we can take good care of our own health! EPISODE HIGHLIGHTS In this episode, Chardell & Nikki discuss: The path to Ben's Phelan-McDermid Syndrome diagnosis  Chardell's background as a Registered Dietitian Nutritionist  Chardell's personal experience being in survival mode juggling the demands of motherhood, having a child with a rare disease, and all of the other aspects of daily life How Chardell's experience with her son led her to start helping other mothers of children with disabilities  How rare moms can amplify nutrition by starting small and building on it until eating is the least overwhelming aspect of our day  Sustainable tips and tools to make meals simple and nourishing  Getting away from a diet culture that focuses on weight and gives short term results Eating healthy as a way to feel better and build strength which allows us to take care of our children and ourselves LINKS & RESOURCES MENTIONED Chardell Buchanan https://chardellbuchanannutrition.square.site/ https://www.instagram.com/stronger_for_ben/ https://www.facebook.com/ChardellBuchananNutrition Phelan-McDermid Syndrome Foundation https://pmsf.org/ CONNECT WITH NIKKI Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com  

“My son has Phelan-McDermid Syndrome,” (PMS) I declared as the nurse asked if my son had any pre-existing conditions. “What was that?” she asked as many have before her and many after her will as well. “It's a genetic deletion,” I began as I always do, “it might be easier just to write down 22q13.33 deletion syndrome,” has become my default as many in the medical field may understand chromosomes better. However, they still have no idea what those numbers

Welcome back for another episode of Because We are Strong. Today we are sitting down with Chardell, a registered dietician and mother of 3. One of Chardell’s children has Phelan-McDermid Syndrome (22q13 deletion). Currently, she is helping special needs parents take better care of their families with healthy eating. Meet Chardell:Chardell Buchanan is a Registered Dietitian and mom to three children, one of whom has Phelan-McDermid Syndrome or 22q13 Deletion. Currently, she is helping special needs parents take better care of their families with healthy eating. www.chardellbuchanan.comInstagram @stronger_for_benFacebook @ChardellBuchananNutritionhttps://m.youtube.com/watch?v=95EOIpJNUTMwww.pmsf.orgRARE.WE ARE A BRAND WITH A PURPOSE.Behind every RARE. product is a mission to spread awareness around rare diseases and advocate for those struggling silently with them everyday. We want to make the invisible – visible. And that’s why we created RARE. To Learn More head over to www.findyourrare.com Support the show (https://www.patron.com/findyourrare)

Community Submission by: Avis Avis is the mother of three boys: the older two are typically-developed, and her youngest, Bennett, has Phelan-McDermid Syndrome with autism. She is also a wife and a dentist. On June 16th, 2020, my 6-year-old son Bennett ran out of the house and jumped the fence. By the time we realized he wasn’t hiding or avoiding us, we could NOT find him. We live on a corner and we weren’t sure which direction he ran. We

When we got the diagnosis of Phelan-McDermid Syndrome for my son, we were shocked. Our hearts sank, the mourning period began, and we realized that every expectation we had for our son was gone. As if overnight, all I could see was a never-ending list of therapies, doctors’ appointments, paperwork, and realizing it would never end. It felt defeating as a horrible battle between my brain and my heart began. So overcome with grief, I could not see clearly at

In this episode of House Call, Dr Brock meets with Ada Mae, an 11-year old girl living with Phelan-McDermid Syndrome. If you'd like to help this family, go to https://www.gofundme.com/f/mermaidfund.

A series of three scientific articles explore the link between the onset of psychiatric symptoms in adolescence in people with Phelan McDermid Syndrome, or PMS.  PMS is caused by a mutation in the SHANK3 gene, leading to a wide range of medical, behavioral and intellectual challenges, as well as autism spectrum disorder.  Scientists used a […]

Thanks for tuning in to The Guitaring Show! This is the audio taken from our YouTube Show which you can watch here. Please subscribe to our channel! BOSS SY-1 First Look | Top 6 Sounds BOSS SY-1 First Look | Phelan-McDermid Syndrome Awareness Day | TGS Picks Arrive #bossSY1 OK. So I may have jumped the gun creating this episode's thumbnail. Perhaps not our Top 6 Sounds but definitely Zach's current favourite sounds. Mind you, this was only the third time he had played the SY-1. It was literally fresh out of the box! We will most likely revisit this pedal once we've spent a little more time using it! Did you know that October 22 is Phelan-McDermid Syndrome Awareness Day? #PMSAwarenessDay Phelan-McDermid Syndrome is a rare genetic condition caused by a deletion or structural change of the terminal end of chromosome 22 in the 22q13 region. It can also be caused by a mutation of the SHANK3 gene. PMS is sometimes called 22q13 Deletion Syndrome. It's estimated that 1 percent of all people with autism have Phelan-McDermid Syndrome. The symptoms of PMS vary and can cause a wide range of medical, intellectual, and behavioural challenges. The most common characteristics are intellectual disability, delayed or absent speech, low muscle tone, motor delays, and epilepsy. There is no cure or treatment specifically for PMS. For more information about PMS, go to www.pmsf.org or contact the PMS Foundation at info@pmsf.org. In Australia, you can visit www.pmsfaustralia.org.au Thanks for watching. Please like and subscribe. Our Patreon Page is now up and running! Visit Patreon! Cheers, Lyndon & Zach

On the seventh episode of the PMS Pathways Podcast, Jackie speaks with Sue Lomas. Sue's son Sam was one of the first to be diagnosed with Phelan McDermid Syndrome. She and Jackie speak about what it was like to get a diagnosis where only a handful of families had also received that diagnosis, and the early days of the Foundation. From setting up a non-profit organization, to forming a board, and introducing more and more families to the community. The PMSF has grown significantly since the early 2000's, and Sue shares some of these stories and more! If you have questions or suggestions for future episodes, please reach out to Jackie Jacobs, the Family Engagement Specialist, at jackie@pmsf.org. PMS Pathways Podcast is written, produced and edited by Jackie Jacobs and is a production of the Phelan McDermid Syndrome Foundation. For more information about the Foundation, our programs, and initiatives, please visit our website at www.pmsf.org. Simply click on the player below to listen. You may also select one of the subscribe options below the player to stay up to date with podcast episodes as they are posted.

Have you met Ada? You should meet Ada. If you've met Ada, either here or in person, just go ahead and listen. If you haven't, here's a bit about Ada from her Mom. Ada has Phelan-McDermid Syndrome: very rare genetic disorder caused by deletion/mutation of shank 3 gene.  Only 1700 known cases but believed to be highly under diagnosed.  There is no cure and life long symptoms include: little to no verbal abilities, hypotonia (low muscle tone), intellectual disabilities, PICA, seizures, autism symptoms, GI issues, sleep difficulties. (Note from Greg: Google is your friend.)  Ada is an angel baby magical  fairy mermaid who marches to the beat of her own drum and teaches many wise lessons along the way. She will never be defined by Phelan-McDermid rather she rises above her challenges through her love of authenticity, music, water, cuddles and awesome people.     World of Mae (WOM) was created in her honor...follow Ada’s journey on Facebook or Instagram: @fairystrong.   WOM is committed to always celebrate people of ALL abilities while spreading hope, understanding and awareness through Ada’s fairy beauty;)   Here are a few whimsical, musical interactions between me and Ada.   Also, there are two previous Ada podcasts if you feel so compelled.   Take care of yourself and others.   -G  

In this episode, I share a story from when our daughter was first diagnosed with Phelan-McDermid Syndrome and the potential I now see in rainy days. After you hear this short story, you’ll want to head over to Spotify to listen to our podcast playlist. This episode's ADD TO PLAYLIST: SONG: Seasons Change ARTIST: United Pursuit, Michael Ketterer ALBUM: Simple Gospel

If you missed the first WoM podcast, you should go back and do that. S2E21.  But if you don't feel like doing that, here's the original introduction: Today you'll meet Ada. I'll allow Ada's Mom to tell you a bit about Ada: Ada has Phelan-McDermid Syndrome: very rare genetic disorder caused by deletion/mutation of shank 3 gene.  Only 1700 known cases but believed to be highly under diagnosed.    No cure and life long symptoms include: little to no verbal abilities, hypotonia (low muscle tone), intellectual disabilities, PICA, seizures, autism symptoms, GI issues, sleep difficulties    Ada is our angel baby magical  fairy mermaid who marches to the beat of her own drum and teaches many wise lessons along the way. She will never be defined by pms rather she rises above her challenges through her love of authenticity, music, water, cuddles and awesome people.     World of Mae (WOM) was created in her honor...follow Ada’s journey on Facebook or Instagram: @fairystrong.   WOM is committed to always celebrate people of ALL abilities while spreading hope, understanding and awareness through Ada’s fairy beauty;)  

Today you'll meet Ada. I'll allow Ada's Mom to tell you a bit about Ada: Ada has Phelan-McDermid Syndrome: very rare genetic disorder caused by deletion/mutation of shank 3 gene.  Only 1700 known cases but believed to be highly under diagnosed.    No cure and life long symptoms include: little to no verbal abilities, hypotonia (low muscle tone), intellectual disabilities, PICA, seizures, autism symptoms, GI issues, sleep difficulties    Ada is our angel baby magical  fairy mermaid who marches to the beat of her own drum and teaches many wise lessons along the way. She will never be defined by pms rather she rises above her challenges through her love of authenticity, music, water, cuddles and awesome people.     World of Mae (WOM) was created in her honor...follow Ada’s journey on Facebook or Instagram: @fairystrong.   WOM is committed to always celebrate people of ALL abilities while spreading hope, understanding and awareness through Ada’s fairy beauty;)