Podcasts about ctnnb1

En este episodio hacemos una review completa del Maratón de Barcelona 2025, desgranando todos sus detalles tras haberlo corrido juntos este pasado fin de semana. Compartimos nuestra experiencia en esta gran prueba, desde el recorrido hasta la organización, y cómo encaja dentro de nuestro reto solidario de 12 maratones en 12 meses a favor de la Fundación CTNNB1. ¡No te lo pierdas!

This episode features a heartfelt conversation with Rivki, a mother of six, including her youngest son, Eli, who was diagnosed with CTNNB1 syndrome, a rare genetic disorder. She shares her journey of recognizing early developmental concerns, overcoming medical dismissals, and advocating for a proper diagnosis. She discusses the impact of Eli's condition on the family, the challenges and joys of raising a child with a challenging rare disease, and the importance of allowing her other children to express their full range of emotions. As a therapist, she emphasizes inclusivity, the power of curiosity in seeking answers, and breaking societal stigmas around disabilities. Her story is one of resilience, growth, and fostering understanding in the face of adversity.Also In This Episode:Sean's positive TSA experience43 year old small talkThank you notes: Rocky the Rare At Sea travel agent, and a kind Trader Joe's employee

As caregivers, we give everything to our kids—but where does that leave us? Burnt out, exhausted, and running on fumes. If you've ever felt like you don't even know where to start when it comes to your own health, this episode is for you. I'm talking with Fraser Bridgeman, a fellow CTNNB1 mom and a functional integrative health practitioner, about the small but powerful changes we can make to support our own well-being. Fraser understands the unique challenges rare disease caregivers face—chronic stress, poor sleep, inflammation, and running on adrenaline for years at a time. She's sharing practical, realistic ways to prioritize your health so you can show up for your child without running yourself into the ground. In this episode, we discuss: ✨ The most common health issues caregivers face (and how stress affects the gut, sleep, and hormones) ✨ How to make small, sustainable changes—even when you're overwhelmed ✨ Easy food swaps to support energy, gut health, and stress resilience ✨ Practical ways to improve sleep and manage cortisol levels ✨ How movement, breathwork, and mindfulness can help regulate a taxed nervous system ✨ The mindset shift that will help you prioritize your own health without guilt Listen now and take the first step toward caring for yourself—because you matter, too. Follow Fraser on Instagram Fraser's Integrative Health Website

Behind every rare disease diagnosis lies a story of heartbreak, resilience, and unshakable love. Heather sits down with Effie Parks, award-winning host of Once Upon a Gene and mother to Ford, who lives with CTNNB1 syndrome. Together, they uncover the raw truths of parenting a child with special needs—from the moments of joy to the isolation no one talks about. Effie's journey is a testament to the power of advocacy, community, and finding light in the darkest days. This episode will leave you inspired and deeply moved by the resilience of families navigating the rare disease world. Find Effie Parks:

Ta teden bo Fundacija CTNNB1, ki razvija zdravilo za dečka Urbana Miroševiča, prejela en milijon evrov. Njegova mama, ustanoviteljica in predsednica upravnega odbora Fundacije CTNNB1, Špela Miroševič in minister za visoko šolstvo, znanost in inovacije Igor Papič sta namreč podpisala pogodbo o sofinanciranju predklinične in klinične študije genskega zdravila urbagen za sindrom CTNNB1. Osnova za financiranje je sicer novembra sprejeta novela zakona o znanstvenoraziskovalni in inovacijski dejavnosti. Prispevek Eve Lipovšek.

The prospect of a minimally toxic, chemotherapy-free cure for hepatoblastoma is held out by findings from a mouse model using the small-molecule drug WNTinib that inhibits the Wnt signaling pathway involved with cancer growth. Lead author Ugnė Balaševičiūtė, a pre-doctoral researcher in Translational Research of the Hepatic Oncology Group led by Josep M. Llovet, Professor at the Institut D'Investigacions Biomediques August Pi i Sunyer (IDIBAPS) in Barcelona, Spain, reported that the CTNNB1 (catenin beta-1 protein) gene targeted by WNTinib was expressed in 90 percent of all hepatoblastomas. Hopes were high that a safer alternative to chemotherapy in humans was on the way.

Lucy Mort, a mother of two (soon to be three next month), speaks to Bill Woods about her first born Teddy, who was diagnosed with CTNNB1 syndrome. CTNNB1 syndrome is a rare and non-inherited genetic neurological disorder that begins to manifest in early infancy as missed milestones and developmental delays. It can lead to severe impairments, affecting nearly every aspect of life, from the ability to speak and walk to eating and social engagement. This month, Lucy and her husband Peter, have kicked off their latest fundraiser to support the CTNNB1 gene therapy clinical trial planned for 2025. For more and to donate visit - https://www.gofundme.com/f/Teddy-CTNNB1 See omnystudio.com/listener for privacy information.

Send us a textReceiving a rare genetic disease diagnosis for yourself or a loved one is devastating news, especially when the diagnosed is a child.For families, navigating the challenges of these diagnoses requires more than just medical care, it takes a strong, compassionate support system.In this episode of CareTalk, David E. Williams and John Driscoll sit down with Effie Parks, advocate and host of the Once Upon a Gene podcast, to dive into the critical role of community during a rare disease diagnosis and the strong support system that has developed around parenting those afflicted.This episode is brought to you by BetterHelp. Give online therapy a try at https://betterhelp.com/caretalk and get on your way to being your best self.As a BetterHelp affiliate, we may receive compensation from BetterHelp if you purchase products or services through the links provided.TOPICS(0:36) Sponsorship(1:52) Welcome Effie Parks(2:31) Effie Parks' Journey into the Rare Disease Community(4:31) Why Effie Parks Started Once Upon a Gene(6:18) Advice to Families in the Rare Disease Community(7:12) Grappling with Grief and Guilt(10:45) Understanding Why We Experience Guilt(12:18) Examining Healthcare Policies That Impact Rare Diseases(14:43) How Healthcare Professionals Can Be More Sensitive to Families(16:27) Building a Supportive Rare Disease Community(18:19) Advice for Government Agencies When Approaching Rare Disease Policy(20:09) Engaging Patients and Families in Healthcare Policy(20:50) How the Entire Healthcare Ecosystem Can Become More Involved(22:46) Creating a Virtual Event for the Rare Disease Community(24:20) Areas of Hope in Rare Diseases

En este episodio especial, hemos invitado a Yeray para que nos cuente sobre su inspirador reto "12 Maratones por CTNNB1". A lo largo del año, Yeray se ha propuesto correr 12 maratones con un objetivo claro: recaudar fondos para la Fundación CTNNB1 y apoyar la investigación de esta enfermedad rara, que afecta a muchos niños y familias en todo el mundo. Durante la charla, Yeray nos explica cómo surgió la idea, los desafíos físicos y mentales que ha enfrentado al correr tantas maratones en un año, y el impacto positivo que espera generar con este proyecto solidario. También hablamos de la importancia de unir el deporte con causas sociales y cómo los corredores populares pueden marcar una diferencia en la vida de los demás. Únete a nosotros en YouTube y Spotify para conocer más sobre esta increíble iniciativa y descubrir cómo el running puede ir más allá de los kilómetros para generar esperanza y apoyo. ¡No te lo pierdas!

Thursday, September 26th, 2024Today, the Jack Smith 180 page immunity briefing is due today; every Teamsters union in Florida has endorsed Kamala Harris; a Wisconsin mayor is caught stealing a ballot drop box; Alabama Republicans are working to block Glock switches which are like bump stocks for handguns; Georgia Democrats are suing Brian Kemp to force an ethics investigation into the State Elections Board; the House passes a clean government funding bill and are now on break until after the election; Hurricane Helene will jump to a category 4 before landfall in Florida; a top Muslim organization has endorsed Kamala Harris; and the Supreme Court refuses to stay the execution of Marcellus Williams; and Allison delivers your Good News. For a limited time, HomeChef is offering you 18 Free Meals, plus Free Shipping on your first box, and Free Dessert for Life. At https://www.HomeChef.com/DAILYBEANS.Join AG At ‘Creatives for Harris' Virtual Rally 9.26.24 9PM ET, 6PM PT Registration LinkHarris Campaign Social Media Toolkit (kamalaharris.com)Give to the Kamala Harris Presidential CampaignKamala Harris — Donate via ActBlue (MSW Media's Donation Link)Come See AG Saturday, September 28th At The Sexy Liberal Save The World Comedy Tour!Phoenix, Arizona - Get Tickets at: https://sexyliberal.comGuests:Generation Data Co-Founders Nancy Stalnaker (Data Diva) and Matt Mawhinneygenerationdata.orgA Special Excel Training For Daily Beans Listeners!Saturday, October 12 · 10am - 1pm PDTgenerationdata.org/daily-beansStoriesWisconsin mayor carts away absentee ballot drop box, says he did nothing wrong (CNN)Democrats sue over Georgia rules they say could block election certifications (CBS News)GOP lawmakers now back Glock switch ban after mass shooting at Birmingham Hush lounge (AL.com)Every Teamsters union in Florida backs Kamala Harris for President (Florida Politics)Top Muslim-voter organization endorses Harris as Middle East conflict escalates (AP News)Missouri executes Marcellus Williams despite questions over evidence, after Supreme Court denies final bid for delay (CBS News) From The Good NewsWorkforce Innovation and Opportunity Act (dot.gov)The Veterans Access, Choice And Accountability Act Of 2014 (house.gov)The Charlatans - Weirdo HD (YouTube)Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome (embopress.org)Researchers Identify Possible Treatment for Rare Disorder (tufts.edu)She's Fly focuses on quality outdoor gear made for women, by women (shesfly.com)So What Else (Food Bank And More | DC Area | sowhatelse.org)If any DC area listeners can help, please email info@sowhatelse.orgCheck Your Voter Registration!vote.orgThere is a new “Harris For President” Patreon tier:https://www.patreon.com/muellershewrote/membership Check out other MSW Media podcastshttps://mswmedia.com/shows/Subscribe for free to MuellerSheWrote on Substackhttps://muellershewrote.substack.com Follow AG and Dana on Social MediaDr. Allison Gill https://muellershewrote.substack.comhttps://twitter.com/MuellerSheWrotehttps://www.threads.net/@muellershewrotehttps://www.tiktok.com/@muellershewrotehttps://instagram.com/muellershewroteDana Goldberghttps://twitter.com/DGComedyhttps://www.instagram.com/dgcomedyhttps://www.facebook.com/dgcomedyhttps://danagoldberg.comHave some good news; a confession; or a correction to share?Good News & Confessions - The Daily Beanshttps://www.dailybeanspod.com/confessional/ Listener Survey:http://survey.podtrac.com/start-survey.aspx?pubid=BffJOlI7qQcF&ver=shortFollow the Podcast on Apple:The Daily Beans on Apple PodcastsWant to support the show and get it ad-free and early?Supercasthttps://dailybeans.supercast.com/OrPatreon https://patreon.com/thedailybeansOr subscribe on Apple Podcasts with our affiliate linkThe Daily Beans on Apple Podcasts

Effie Parks is well known in the rare disease community as both a patient advocate and host of the Once Upon a Gene podcast. Like many advocates, she was thrust into the world of rare diseases following the diagnosis of her son Ford with an ultra-rare neurodevelopmental disorder known as CTNNB1 syndrome. Recently she published a map of the journey that a family undergoes when seeking a diagnosis a rare disease, a humorous answer to the orderly way organizations typically portray the experience. We spoke to Parks about her experience with the diagnostic odyssey for her son Ford, her version of the map to a genetic diagnosis, and what organizations usually get wrong. Click here to view the map.

El Ritual de lo VIRTUAL dirige su catalejo hacia un tema de vital importancia para un grupo de personas que aunque no es muy grande, sí grande es la necesidad de visualizar las características de su viaje en este mundo; me refiero a las niñas y niños, personas en general que viven con una alteración genética llamada síndrome CTNNB1. En cabina se encuentra la Brigada completa, Adriana Manjarrez, Marko y su servilleta Juan Estrada en la operación, producción, conducción y demás artimañas que habremos de ir desempacando en este muy sui generis unboxing de lo que ha sido esta etapa en el viaje de Marko y su lucha contra el CTNNB1 acompañado de su familia, por supuesto y demás personas que le han brindado su ayuda de muchas y muy distintas formas. Comenzamos esta emisión del Ritual de lo VIRTUAL Sedición #543 con la descripción de lo que es esta rara enfermedad llamada Síndrome CTNNB1 acá en El Ritual de lo VIRTUAL Sedición #543 Marko y su lucha contra el CTNNB1 por Política y Rock n roll Radio 106.7 FM desde Hermosillo Sonora hasta el Ajusco en Ciudad de México por Radio Comun 103.1FM

Der Familienalltag bringt viel Freude, aber auch immer wieder Herausforderungen mit sich. Wieviel mehr sind Eltern gefordert, die ein chronisch krankes Kind oder ein Kind mit Beeinträchtigung zuhause haben. Eine Herausforderung für Eltern, Geschwister und das Umfeld.

The Caregiver's Journal hosted by Lance A. Slatton and Denise M. Brown. The Caregiver's Journal is the show where we are sharing the caregiving experiences, stories, and wisdom of family caregivers. Chapter 2 - "The Path to Diagnosis": In this journal entry, we welcomed Jesus Loreto, Sharon Hall, and Effie Parks who shared their stories and experiences on "The Path to Diagnosis". Jesus Loreto: Jesus is a Certified Caregiving Facilitator and member of the Patient Advocacy Council Guthy Jackson Charitable Foundation Caregiver for his beautiful wife Maria Elena who was diagnosed with Neuromyelitis Optica NMOSD (NMO) for 16 years. Jesus had been running a caregiver's support group for almost a decade and found it very rewarding to help others to navigate their diagnosis and manage their disease day to day. Jesus believes that by telling your story you can save lives, you make people realize they are not alone. They have readjusted to their new normal, and love life. They live with NMO but NMO is not their life. Sharon Hall: During Sharon's 18 years of caregiving, she has navigated the medical community, the social service community, and the support community. Her husband was diagnosed with frontotemporal degeneration, so she has added experience in young onset dementia.She was a care partner speaker at the Research Summit on Dementia Care and Services at the NIH in 2017. She has also presented at the 2017, 2018 and 2019 National Caregiver Conferences. Sharon has been a speaker in many webinars on dementia. She facilitates a local support group and an online chat for care partners. She also has a podcast with a dementia expert to give families much needed information. Sharon also contributed to the “Fighting Alzheimer's” insert in USA Today. Sharon is active in social media within the dementia community.  Effie Parks: Effie Parks, originally from beautiful Montana, has become a guiding light in the rare disease community following her son Ford's diagnosis with CTNNB1 syndrome. Settling in Washington, she transformed her family's journey into a crusade for advocacy, support, and empowerment for families navigating similar challenges. As the host of the "Once Upon a Gene" podcast, Effie has been recognized for several awards including WEGO Health and Podcast Magazine for her impactful storytelling and resource-sharing in the realm of rare genetic disorders. Effie extends her advocacy through speaking engagements at medical and patient advocacy conferences, sharing her experiences and insights from her work to bridge the gap between all rare disease stakeholders. Her skill in community engagement, developed through her advocacy, empowers her efforts in building a supportive network and raising awareness. With a mission to leave the world better than she found it, Effie is dedicated to fostering a more informed and empathetic environment for those impacted by rare diseases. Her work embodies resilience and compassion, inspiring and uniting the rare disease community. Effie's journey is not just about sharing stories, it's about driving change and creating a lasting impact in the world of rare genetic conditions.    Visit The Caregiver's Journal Official Website:  https://thecaregiversjournalpodcast.com/ Connect with Lance A. Slatton: Official Website: https://www.lanceaslatton.com Official Website:  https://www.allhomecarematters.com Connect with Denise M. Brown: Official Website: https://join.caringourway.com/

Once Upon A Gene is a Podcast for families living with rare diseases. There are personal stories and resources shared to help connect us with our community. Although I only linked Apple podcast below, Once Upon A Gene is available on any player of your choice and has a YouTube channel. Effie Parks, originally from beautiful Montana, has become a guiding light in the rare disease community following her son Ford's diagnosis with CTNNB1 syndrome. Settling in Washington, she transformed her family's journey into a crusade for advocacy, support, and empowerment for families navigating similar challenges. As the host of the "Once Upon a Gene" podcast, Effie has been recognized for several awards including WEGO Health and Podcast Magazine for her impactful storytelling and resource-sharing in the realm of rare genetic disorders. Effie extends her advocacy through speaking engagements at medical and patient advocacy conferences, sharing her experiences and insights from her work to bridge the gap between all rare disease stakeholders. Her skill in community engagement, developed through her advocacy, empowers her efforts in building a supportive network and raising awareness. With a mission to leave the world better than she found it, Effie is dedicated to fostering a more informed and empathetic environment for those impacted by rare diseases. Her work embodies resilience and compassion, inspiring and uniting the rare disease community. Effie's journey is not just about sharing stories, it's about driving change and creating a lasting impact in the world of rare genetic conditions. Two Disabled Dudes: https://twodisableddudes.com/ "Chasing My Cure: A Doctor's Race to Turn Hope Into Action; A Memoir" - Dr. David Fajgenbaum: https://amzn.to/3OpBzLg "The Ataxian" documentary (Amazon Prime): https://amzn.to/4bg53oS Connect to Learn More: Website: https://effieparks.com/ Email: hello@onceuponagene.com FB: @OnceUponAGene IG: @onceuponagene.podcast Apple Podcast: https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Episode Transcript: https://docs.google.com/document/d/1Q6gNJc9HGU7HRMdEA8I2R3G-fHJI8qdT/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true As an Amazon Associate, I earn commissions from qualifying purchases. For more information about True North Disability Planning you can find us here: Web: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://truenorthdisabilityplanning.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Waypoints - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://waypoints.substack.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Facebook: @TrueNorthDisabilityPlanning X (Twitter): @NeedsNavigator --- Send in a voice message: https://podcasters.spotify.com/pod/show/abcs-disability-planning/message Support this podcast: https://podcasters.spotify.com/pod/show/abcs-disability-planning/support

29 February marks Rare Disease Day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. In this episode of the G Word, our host Julia Vitarello, Founder and CEO of Mila's Miracle Foundation, is joined by Rich Scott, Interim CEO for Genomics England, and Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England, as they discuss challenges for those living with a rare condition and the work being carried out across the genomics ecosystem to support them. Julia is the mother of Mila, a young girl who was diagnosed with a rare genetic condition called Batten Disease, and in this episode Julia takes us through Mila's story, and how she hopes to help many more families access treatments for their children.   "So when parents, children, are diagnosed whether it's a fatal or life-longing debilitating or difficult disease, if you know that what's being learned from your child both from just the genomics to the potential treatments that's helping the next child, that helps parents like me be able to continue living."   You can find out more about Mila's story in our previous podcast episode with Rich Scott, Julia Vitarello and Dr Tim Yu.   You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Rare-Disease-Day.docx  Julia: Welcome to the G Word So my life at that point seemed to just disappear in that moment, all the things that had mattered to me were gone; I knew there was something wrong with my daughter but I had absolutely no idea that a typical child who was outgoing and active and verbal and had friends could suddenly lose all of her abilities and die. My name is Julia Vitarello, and I'm your host for today's episode. Today joining me in conversation is Rich Scott, Interim CEO for Genomics England, and Ana Lisa Tavares, Clinical Lead for Rare Disease Research, also at Genomics England. Today we'll be discussing challenges for those living with a rare condition and the work being carried out across the genomics ecosystem to support them. If you enjoy today's episode, please like, share and rate the G Word on wherever you listen to your podcasts. The 29th of February marks rare disease day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. Before I get into speaking with Rich and Ana Lisa, I wanted to share my story and my daughter, Mila's, story. My life as a mother started really like anyone else's, my daughter was perfectly healthy, her name is Mila. For the first three or four years of her life she was like any other kid. I live in Colorado in the United States, my daughter was a skier, she was a hiker, she was rock climbing, she was incredibly active and singing songs and swimming and riding bikes. But around four years' old she started tripping and falling, she started pulling books and toys up closely to her face; she started being covered in bruises, getting stuck on words and repeating her sentences and I brought her to about 100 different doctors and therapists around the United States to try to figure out what was going on with her. Around four years' old I started speaking with orthopaedic surgeons, with ophthalmologists, with neurologists, with speech therapists and each one of them, you know, told me pretty much that I was a crazy mom and that my daughter was typical and normal and that she would grow out of these sort of strange symptoms that she was having.      By the time that she was six years' old, I had had enough and I was crying on a regular basis, no doctor could help me and I was tired of lugging my daughter, who was now covered in bruises and tripping and falling and stuttering, together with my newborn son at the time, kind of around the country only to be told that I was crazy. And at that point at six years' old I brought her into the emergency room in the Children's Hospital Colorado, near where I live. She was in there for about a week and underwent a battery of tests and at the end of that week I was told that my daughter had a rare genetic condition called Batten Disease and that she would lose all of her abilities and die in the next few years. So my life at that point, first four years of my life seemed to just disappear in that moment, all the things that had mattered to me were gone. I knew there was something wrong with my daughter but I had absolutely no idea that a typical child who was outgoing and active and verbal and had friends could suddenly lose all of her abilities and die. After crying on my closet floor pretty much most of the day for a few weeks I picked myself up. I started to read white papers, I started to go online and learn about other rare conditions. I started to speak with parents that had fought for their children with physicians, with researchers, and did everything I could to kind of figure out if there was even a glimmer of hope. And what I was told at the time at the end of 2016 was that there is almost nothing that could be done and very little was known about my daughter's form of Batten Disease. But that there was a tiny glimmer of hope that we could maybe stop genetic disease, and that's all I needed. I started Mila's Miracle Foundation, which is a non-profit organization. I started telling Mila's story and taking care of my kids by day and trying to fight and learn and raise money by night and I started a gene replacement therapy because it was the only option that I could take on as we didn't know much at all about the disease, and by replacing it, it was kind of the only thing that I could do, but it was going to take many years and millions and millions of dollars and I knew that it wouldn't be in time for my daughter. Along the way, there was something a little bit unusual which was that my daughter had an auto recessive disease which meant that she needed to have a mutation in the same Batten causing gene from her mom, myself, and her father, and they could only find one of these two. That led me to learn about whole genome sequencing, which was kind of the most extensive way of looking at Mila's genome to figure out where this missing mutation was. And in that search I crossed paths with a Dr Timothy Yu at Boston Children's Hospital, and he volunteered with his lab to help me find this missing mutation that no other lab could possibly find. And within a few months and a lot of work, a lot of late nights and weekends and staring at screens, through whole genome sequencing, the team was able to find Mila's missing mutation and finally diagnose her fully with this rare form of an already rare Batten disease. That is where Mila's story changed and turned direction. At that point, a recently approved drug for spinal muscular atrophy was on all neurologists' minds at that moment because it had just been approved in the US by the FDA and in other countries, and it was a game changer, these children were dying and on respirators and in wheelchairs you know at the age of two and with this new drug they were actually living, many of them were living long lives and were active and happy and healthy and going to school. And Mila looking her whole genome sequence was able to kind of fit that same criteria, and so the doctors, including Dr Yu said, “What if we did the same thing for these children? What if we made a drug like this for Mila?” This drug called Antisense Oligonucleotides, or ASO seemed to be a good fit for Mila's mutation. And so a drug was made for Mila and named after her called Milasen and it was a race against time for an entire a year with a team of honestly hundreds of people across academics and industry, I was fighting to try to raise the money and awareness and working with a scientific team. And one year after Mila was diagnosed when she turned seven years' old, we moved to Boston and Mila began receiving Milasen, which was named after her, and only in that moment in time did I realise not only what a big deal this was for me as her mother, but what a big deal this was for science. She was the first person in the world to receive a medicine that was tailored just to one person and it was named after her because there was no-one else in the world they could find that shared that same mutation. When Mila began this, you know, I didn't know what to expect but I knew that she was going to lose all her abilities and die if she didn't receive this. And so once she started receiving this within just a few months, her 30 seizures a day went down to nothing; she had occasional small tiny seizures that were barely visible but her quality of life was incredibly you know improved, not to mention our family's because she was no longer thrashing and smashing her arms and legs up against walls and tables. She had been slumped and could no longer sit up. She could no longer hold her body up and take steps with my support from behind and after Milasen she started being able to do that even walk up the stairs with alternating feet with me supporting her from behind. She also had received a G-tube and was receiving all of her nutrition through the G-tube and after Milasen she started eating by mouth, it wasn't perfect, but she was eating pureed foods, and being able to swallow better and probably most importantly she was able to smile and laugh at the funny parts in the books and the stories that I had been reading and singing to her and that she had kind of really not been responding to as much before Milasen and some of that came back. So, a year into this everyone was quite shocked that Mila had done so incredibly well in this first year despite how progressed she was, progressed her condition was. Unfortunately in the second year it was during COVID and it was unclear whether or not Mila's disease had kind of stopped or whether it was slowly progressing and in the third year Mila started having problems associated with her rare condition and I was faced as a mother with the most horrible decisions anyone should ever, never, never, never have to face to decide what Mila would want if she were able to talk and tell me whether or not this was a life that she felt like she would want to live. And after three years on Milasen, which was three years ago almost this week, Mila died and in many ways my life as I knew it was kind of over. I'm a very positive happy person and I have a son and I continue getting up every day and pushing through the day but I'm not sure how any parent makes it through days, weeks, months and their whole life without their child physically there with them. Ana Lisa: We can really hear the perseverance that you had to get a diagnosis through whole genome sequencing eventually for Mila. Can you tell us a little bit more about that process and what that diagnosis, what did it mean for Mila and for your family? Julia: When Mila was first diagnosed with Batten Disease, one of the missing mutations could not be found by any lab. I did research and found out that whole genome sequencing which at the time was very, very hard to find a lab that would do it or anyone that would do it in the United States, I did learn that that was really what was needed in order to try to really get down to find the underlying genetic cause of Mila's disease and give her a full diagnosis. So once we managed to have Dr Yu's lab at Boston Children's Hospital carry out the whole genome sequence, obviously we were able to then find exactly where the broken, underlying broken kind of genetic mutation was and why that was important was for two reasons: 1) was so that we could actually have a diagnosis and even though it was the worst diagnosis we could have ever asked for, at least there was an answer and for so many years I didn't have an answer and there is nothing worse than seeing your child, you know, having all of these different symptoms and problems and having you know tens, if not hundreds, of different doctors and therapists tell you that they don't know and maybe you're just a little bit over-worked and over-worried about things, and having no answer and no idea what's wrong is like living in this limbo that's just terrible. And so whole genome sequencing allowed for us to have a full diagnosis for Mila, and it also allowed us to use that data since it was truly the precise place where, you know, we could find the precise plan where her gene was broken. It allowed the researchers to then also think about what could be done about it as well, which is the second thing a parent thinks about after they have the kind of relief in some ways, which is a strange word to use but it's true, of knowing what is wrong and then thinking, “What could I do about it now?” And so for me I would say that's how, Ana Lisa, that's how I reacted to that, is there was enormous relief initially, which is just the weirdest word ever to use for that but at least I felt like I wasn't crazy and that there was an actual reason and that it allowed us, allowed me and others to think what kind of action can we take now. Rich: One of the things that often strikes me, I'm a clinical geneticist by background, just like Ana Lisa, is how often particularly several years ago when we were in a different situation, it depended on families and parents pushing and pushing and pushing and asking, that's something I think in the UK we're really lucky that there have been changes in terms of availability of testing. Julia, as you know, we were set up ten years ago initially to run a project, a research project in partnership with the NHS called ‘The 100,000 Genome Project' asking the question about whether whole genome sequencing could be used in a diagnostic setting. Whole genome sequencing had just emerged as a thing that could even be conceived of as affordable in a healthcare system back then, and we worked with the NHS and tens of thousands of families with rare conditions and people with cancer to ask that question and again, we're really proud of what that work and our partnership with the NHS has led to, which is now in the UK. There is the availability nationally of whole genome sequencing to test in certain settings including in rare conditions that are hard to solve in this sort of way and it's one of the things which has really changed the way we can go about this, but we also know that there's still, it's still hard often to identify who should be seen by a specialist who might do a test and so on. But it has really changed things and I think it's hearing from families like yours about how challenging it is and thinking about how we turn, looking across all of the story that you told us of everything you went through, how we can make that be something where we can make it be more systematically available and work for many more people, and I know your phrase from Mila to millions really strikes a chord with me, and I know with the NHS mind-set here in the UK where it's about equity of access and I think that mind-set that you bring is so important. Julia: Yes, Rich, I think it's a really good point you know, because a lot of parents like myself, we're talking about probably millions around the world and tens of thousands just in the UK alone, spend so much time going from one physician to another and to a therapist and it takes an enormous amount of energy and time in a family that's already dealing with pain and confusion and not understanding what's going on, not to mention usually that child, in my case, Mila, is having problems that it's not easy to leave the house and get in the car and go to all these appointments. And the more we can push towards whole genome sequencing as one of the first places to go, if not the first place to go, the more it's going to cut that sort of diagnostic odyssey down to the very bare minimal. And so of course a dream would be is that any child that has, I like to think of it as soon as you kind of have more than one symptom that shouldn't normally go together, that sort of has a little red flag that goes off and in most parts of the world right now no physician wants to scare a parent like me, it's happened a number of times to me where a physician has said, “Well, you know, there is this rare condition but I'm not going to bring that up because it's so rare that the likelihood that your daughter has that, I wouldn't want to scare you.” But the more we can move towards whole genome sequencing right away to help with that answer that could cut months and very often years from that odyssey, and that is where we need to be, we can't have the tapping on the knee and stacking up blocks and running down the hall for months and years just to figure out what's going on. Ana Lisa: And I think Rich also there said a power of having a national healthcare service where patients who are having whole genome sequencing can also decide whether they wish to consent to be part of research and combining that with a national genomic research library and then the ability to work so closely with the NHS and go back to patients if there is a new diagnosis that could benefit them is really powerful I think, and that's definitely one thing that we've also learnt from these big whole genome sequencing efforts is that our knowledge is continuing to develop and some people will get a diagnosis from that immediately and we've got amazing colleagues working on diagnostic discovery looking at whole cohorts of patients now who are having whole genome sequencing and that's also been really informative and allowed a lot of new diagnoses identified also through research and through these efforts to be found. Julia: Absolutely and I think that the UK is incredibly well suited to have such widespread sort of country-wide whole genome sequencing project like what Genomics England has done because you have one system where all of the clinical and genetic data can all come in and kind of be analysed both for like you said diagnostics but also it could be, if families and patients are interested, right, in contributing to the research which then comes full circle and helps the entire system benefit from better treatments you know and better understanding of diseases. Rich: And that point of sort of thinking about how to move things forward, so the NHS has a service based in Exeter which is addressing the question where children are on intensive care, where often intervention is needed really rapidly to make a difference, so that's one of the examples where sort of thinking about making sure that service is available early and rapidly is being set up and that's been really successful and identifying a cause where that really changes the care of that child on intensive care. The other area where we're working really closely with the NHS at the moment, as you know, Julia, and in fact I think this was probably one of the reasons we first came to talk to you was thinking about our newborn genomes programme where if you like, the big question there is saying we know that there are a few hundred conditions that are within that longer list of rare conditions where there is a treatment available routinely if the diagnosis is made, and saying could we use whole genome sequencing alongside existing newborn heel prick testing which in the UK currently looks for nine, shortly to be ten, conditions. So we're just about to launch that programme and that will sequence the genomes of 100,000 babies born at maternity hospitals, not selected for children where there's something, a concern, raised, but any baby at that hospital would be eligible for the family to choose to join that research programme and really to ask that question about whether this is something that we should offer to all babies developing the scientific evidence around it, learning about how you might implement it in practice, and also having conversations about how one might do that, what public attitudes are to it and so forth, developing evidence that can move us forward in that area too. And back to Ana Lisa's point about improving knowledge, we know that today there are a certain number of conditions that one might think are comparable to those nine that are currently looked for in the UK on the heel prick that we could use genetics as a way in. We also know that through the sort of innovation and the new knowledge that you mentioned that was relevant to Mila, that list might grow quite considerably in the coming years, so it's thinking about how we set ourselves up to make sure that we're able to take advantage of that to its full. Julia: Yeah, and I think it's a great, I'm glad you brought this up Rich because the UK really is leading the world in this, there is no-one else that is doing whole genome sequencing at birth, and ultimately, that's where we need to be. You know it's not going to happen overnight and like you said, the purpose of this is really to learn a lot about how and if to roll this out maybe in a larger scale way across the UK. But ultimately, you know, as Mila's mom, I think all the time about you know how incredible what I saw at a very progressed state for Mila with this treatment and the only way to actually really truly help Mila and other Milas is to get to these children early enough so that they're diagnosed before they have symptoms and they're treated before they have symptoms. And the way to move towards that is to at least have efforts like the project, you know, the newborn screening project so that we can get to children, find them before they have symptoms, treat them before that and from what I saw from Mila I feel pretty strongly that if Mila had received Milasen at birth she might never know the effects of Batten Disease, and we as a family might never know what it's like living with a rare condition, and this is a step in that direction to help. Effie Parks: Hi there, I'm Effie Parks, mom to Ford, who lives with a rare neurodevelopmental disorder called CTNNB1 and the host of the Once Upon a Gene podcast. Our show connects families facing rare diseases, offering stories from parents, insights from experts and discussions on everything from navigating grief to exploring genetic advances. It's a space for understanding, connection and empowerment. For support and inspiration on your rare disease journey, subscribe to the Once Upon a Gene podcast on your favourite podcast app and let's navigate this path together. Ana Lisa: Julia, I'm interested to hear what you think the development of individualised medicines like the N1 treatment Mila had what that means for the sort of collaboration that's required across the genomics ecosystem to achieve that. Julia: Yeah, that's a really good question. It's been seven years that I've been thinking about this kind of individualised medicine concept, you know, as Mila kind of became the pioneer in this field and I'm not a scientist, I'm not a physician, but I've learned a lot because I've been fortunate enough to be part of thousands and thousands of conversations, including with all of you and others, Genomics England, and around the world and I think what I learned and what I've learned so far is that when you have a genetic condition most genetic conditions are individually rare and unfortunately that doesn't make them very suited to have anyone go after a treatment for them because really the only way to connect a patient, a child like Mila, to a science or technology is if they're lucky enough, and I hate to use the word ‘lucky' but they're lucky enough to be part of a large kind of cohort of people, and that allows them to be, you know, commercially viable, so a company will be maybe develop if they're lucky, a treatment for that, for those people. The only other option is this sort of like Herculean effort of which myself and Dr Yu and others went through, we had to raise millions of dollars and get hundreds of people to get on board and develop a novel medicine for one person – now how scalable is that? How many times can we do that, right? And so the only people that really have access to medicines today with genetic conditions are those that are fortunate to be part of one of these two groups, but what about everyone else which is 95% of the people? And so I think what the field is learning is that we kind of have the patients and we're finding them, especially thanks to Genomics England and others, we're starting to find them more rapidly earlier, more of them, and we have these technologies to be able to not only find them but to also treat them but we just do not have the infrastructure and the processes to connect them, we have clinical trials and we have these sort of named patient route but we don't have anything else. And so I think the genomics community, especially in the UK because it's so well suited with all the efforts that we've just brought up, is really well suited to kind of try to work together to allow for access kind of no matter how many people could benefit, it's not only one, it could be six or 20, or 200 or 500. Right now there is no access for them. So I think that the UK is really well suited, starting with whole genome sequencing, that's where it begins, it begins by identifying patients early enough and getting the data that's needed in order to diagnose them and also to help with the treatment you know, and so this is how I think the UK is really leading the world right now, including in the recent announcement of the rare therapies launch pad, which Genomics England is part of, I am part of, others are part of, Oxford Harrington Rare Disease Centre, the MHRA, others are all part of really trying to be dedicated to building the infrastructure and resources and processes that are needed to connect the patients to these technologies that exist today. Rich: I've been really inspired by the conversations and the drive that you, Julia, personally have given to those conversations. And I think what's really interesting and I think it's relevant more broadly than just in rare therapies particularly, but I think that challenge of recognising the need for the system to change to be able to respond to evidence and make the response proportionate to the expectations of various people, the patients or the families who are receiving it, the system as a whole, these sorts of therapies and rare conditions as well, are just not the shape that works well with existing paradigms, but I think it's relevant you know, in other settings as well. I'm really interested in some of the conversations that I've had with you before about balancing risk and understanding how to get that right and the fact that that really needs an open discussion in public to also understand the journey and the situation that families find themselves in. I wonder if you could tell us a bit about your perspective on getting that risk balance right? Julia: Thanks for bringing that up, Rich. I think it's really, really important because to me the way we think of risk and benefit and the risk tolerance maybe is a better way to put it is the foundation of the house that we're building. So, you know, the regulatory process and everything behind that are built on top of how we think about risk. And one of the things that I regularly think about is children that have end stage cancer, and that we as a society have accepted an enormous amount of risk for a child at end-stage cancer that has no other options that's going to die no matter what, probably very rapidly and that if they don't respond to kind of some of the main line treatments then to turn to an experimental cancer treatment which carries a very high risk is considered very acceptable by our society and that everyone, the clinicians, the families, the regulators, everyone is willing to take that risk for that child because they're going to die otherwise. And they're willing to spend money and they're willing to take the risk and often perhaps to buy that child maybe three or six months of life. So then if you look at Mila and if I tell you that instead of having a rare condition that she has an end-stage genetic disease, and I use the words from cancer, from oncology, is now suddenly the discussion changes a little bit, so Mila's going to die no matter what, no child has ever lived with her form of Batten Disease and she's going to lose all of her ability, so we know the risk of not treating Mila. The risk of treating Mila in this case was an antisense oligonucleotide, which is a modality that's been around for 30+ years, tested in animals and more frequently in numerous humans across different sort of trials. And the labs that worked on Mila's medicine felt that it was safe enough and hopefully efficacious enough. And at that point why is the hurdle so exponentially higher than what it would be for a child with end-stage cancer? The way that we are thinking about these children with end-stage genetic disease and end-stage cancer, is drastically different, so we need to first, to your point Rich, we need to start realising we've already set that precedent, we don't need to be having this discussion again. We know the risk we're willing to take for a dying child when there's no other therapeutic, no other option and they're going to die no matter what. So the risk of treating Mila, versus the risk of not treating Mila is black and white and we need to do our best and then we need to not only treat Mila but we need to learn from the treatment of Mila. We need to collect those learnings, they must be iterative learnings so that the next child that's treated with an individualised different ASO or different medicine that they don't happen in silos, but that all of this knowledge comes together so that the second and the third and the fourth and the tenth and the twentieth, the process gets better and faster and eventually cheaper so that it's accessible. Rich: Yes, and that's very much back to Ana Lisa's point on the link and for diagnostics too on continuing to learn and creating a system that recognises that that's crucial to offering the best care today but also in the future and being able to make proactive decisions more confidently if you're a policymaker, knowing that you'll continue to learn, you don't have to pretend you know everything today. Julia: It's very meaningful for parents. So when parents, children, are diagnosed whether it's a fatal or life-longing debilitating or difficult disease, if you know that what's being learned from your child both from just the genomics to the potential treatments that that's helping the next child, that helps parents like me be able to continue living. And so you know, research is this kind of generic word, I wish there were a better word for it. Really what it is, is it's learnings and it's what can be learned from my child that can help the next child? Ana Lisa: And then that learning requires a lot of collaboration, which is the super important part I think of your story. Julia: Yes, it does, it requires a lot of people starting with those diagnosing the children with whole genome sequencing all the way through just to the clinicians who are in the NHS, not to mention the researchers who are then looking at the data and bettering their understanding. Ana Lisa: I think there are also, maybe one can extend some of those parallels as well, in that I think currently we sometimes think of an individualised therapy of NF1 as being something that takes a lot of time and benefits an individual, and actually if we can really collaborate we can really set up processes that work across the ecosystem and keep learning, then I'd love to dream that actually this could help many, many different patients, with many, many different types of rare conditions because actually we've learnt how to target a little bit more at source, perhaps a particular type of genetic variant, and so a bit like cancer, we're not thinking about breast cancer, we're thinking about what sub-type, what genetic causes there are and targeting those, and if we can apply that one day more broadly across rare conditions then it might be that actually once you've learnt a certain amount, that you could scale up and treat many, many different conditions, not dependent on their frequency in the population. Julia: Yeah, that's a great dream, I share that dream. Rich, what is your, you've been in this for many years, what's your dream for the next five, ten years? Rich: I guess I have, I think there's two aspects to it. I think there's two, I think there's a lot of distance left to run for us improving on the diagnostics and I think thinking back to your conceptualisation of it Julia, of sort of thinking about how we can bring that earlier, whether that is that for example we're able to sort of more proactively flag when children have you know, more than one visit to a particular type of doctor or something that makes that happen much earlier in the process. So the tooling that we now know works whether it's whole genome sequencing or something more targeted can be used earlier in the process, or whether for example in our newborn genomes programme we get that evidence that we can look for a broader range of conditions in a screening context right at the beginning of life. And I think in five to ten years we should be in a substantially different place, we'll know whether or not we think whole genome sequencing should be there but offered for every baby at birth, and we can be much more proactive also when symptoms arise. I would also hope that on the side of therapies and intervention, we're in a substantially different position and I think, I've been amazed the last five years how my level of hope has increased. I believe we should now be in a position in five to ten years where those with a therapy that is potentially there to benefit them, should at least be able to be aware of it and there will be a clear pathway by which either that is available if it's proven, or there's a pathway that we all understand about how that can be trialled. And I think we're at the beginning of that journey and I now feel it's a responsibility of ours to work through how we can bring the right pieces into place, we can't prejudge the science, but we can set up the system that makes us be able to respond to it. Julia: Yeah, I remember Rich when you and I were speaking a number of months ago and maybe you could share the story because you talked about your hope kind of changing over time as a clinician I thought that was really powerful to me. Rich: Yeah, I remember it's probably now maybe 15 years ago being asked by a family about what my advice would be to them on the likelihood of there being a treatment for their child's particular condition being available and in fact they asked me to do it in a way that I sort of provided a formal written report to them that I spent a lot of time thinking about and agonising over and was very honestly you know saying it was highly unlikely that something would become available. If I had to write that same report today it would be very different. Julia: That's so promising to hear that. I don't know, Ana Lisa, have you had any experiences like that in the past that you feel differently now of how you would approach a family like mine? Ana Lisa: I think it's a real balance between having that hope ourselves, sharing that hope with other people and not giving false hope and it's such a balance when right now more than 95% of rare diseases don't have a treatment and I think that's such a difficult position to be in right now. And everything we've been talking about gives me massive hope for the future and a lot of what we're pouring our energy and efforts into is both the diagnostics so that we're not trying to make a puzzle with missing pieces in the dark and that's mission-critical, and then the real hope that actually this will drive therapies, which is what we really want for everybody who needs a therapy to have a therapy that's effective, whether they've got a common condition, a rare condition and that's our driving ideal. So I think I'm full of hope and optimism and I hope that it will accelerate, that's what I really hope, the momentum will build and we'll get to a certain level of knowledge, we're learning the processes, we're learning the evidence, we're learning the collaborative models that are needed to really suddenly explode our ability to treat rare conditions. Julia: Yeah, you know when Mila was, I guess when I look at newborn screening in the United States and Batten CLN7, which is Mila's kind of sub-type of her condition is not on newborn screening tests because there is no treatment for it, but the whole genome sequencing that was done for Mila was the data that we got from that was what was needed to create a treatment for her and so it's an unusual case where she was sequenced and a child and a baby, a newborn in the UK could be sequenced and not only told that they have a disease, so they have time to kind of understand the disease more but also potentially kind of prepare for a treatment that might be in the pipeline, but that data is also going to help scientists and researchers create new treatments that may not be available when that child is born but that's the data that's needed to create the treatment. Right now you guys are you're really at the forefront of solving both halves of the what I consider like a rare condition, you know, global health crisis with tens and hundreds of millions of people that have you know families like mine, like my story sounds unique, it sounds impossible but there are tens of millions of other people like me, like my story sounds unique, it sounds impossible but there is tens of millions of other people like me and so to have the UK kind of leading this effort to solve both halves of the problem, the diagnostic half, you know, what disease does a child have and find it in time and also kind of the treatments, here's where we're headed, and if we don't solve both of those problems then there is no such as access, you know to a better life, so I'm really grateful for the fact that you've set a precedent for other countries because now finally there are other countries that are looking towards you and kind of really trying to do the same thing that you're doing. Rich: Yeah, well I think we feel we're uniquely placed; the NHS in the UK and for Genomics England our partnership with the NHS, together with a number of other factors and I think the recognition from government as well as the NHS over a long period that the importance and the power of genomics and the importance of for example, making changes to regulation to get it right mean that it's something that I think we feel really privileged to be in the position to even be able to ask these big questions. Julia: yeah, I think the UK is really uniquely suited to have hung their hat on genomics so that the topics you're taking on are very central, they're not kind of on the sideline, they seem whenever I'm in the UK they say that what Genomics England is doing is at the forefront and in the middle of all the discussions with academics and companies and regulators and government. What do both of you think are the, what are the biggest kind of hurdles we have coming a few years in the newborn programme or you know, any of your other initiatives? Rich: I guess all of these are big questions and I think we need, it's back to that sort of point from Ana Lisa sort of balancing the hope and expectation, I think we're uniquely placed to develop the evidence really clearly and one of the things that we again think is so important is having this conversation in the public about it and developing a shared view, almost you know, it drives policy but it's also something which I think the whole of society needs to sort of think about how we address and what we want to do collectively. I wouldn't place it as a barrier but I would highlight it as a strength that we've had and I think we're hopeful that we'll continue is that long-term commitment in terms of government and the NHS and I think that's really powerful in this space to maintain the UK's position as being able to ask these questions and to show that leadership. Ana Lisa: And to bring together, we need to work really closely across the ecosystem. So in my mind one of the challenges is if one part is missing then that person is not going to get the treatment and how we keep joining up these really important dots across the whole ecosystem to make sure that most people will one day be able to get a treatment. Julia: And all those dots honestly, those dots can never even start unless you have a diagnosis and it's in time. And so there are so many people around the world working on each of those dots that connect a child or a patient to a treatment, but if you can't even be diagnosed or if you're diagnosed too late, which is what the reality is in the world of rare conditions right, then you know, then it's a little bit futile to race to a treatment or even think if that's possible. So I think the very, very first thing is: can we find children and patients, like can we find children like Mila in time? And I love hearing the word ‘hope' that's the word that keeps me going and doing what I'm doing because if there isn't any hope it's pretty hard to keep fighting, so I'm really glad, thank you both for having hope. Okay, we'll wrap up here. Thank you to Ana Lisa and to Rich for joining me in this conversation today as we shed some light on the challenges you know that those with rare conditions are facing. We touched on the work being carried out across the Genomics ecosystem in the UK to support those living with rare conditions. If you'd like to hear more of this, please subscribe to the G Word on your favourite podcast app. And thank you so much for listening. I've been your host, Julia Vitarello. This podcast was edited by Mark Kendrick at Ventoux Digital, and produced by Naimah Callachand.  

Becoming a parent to a child with a rare disease was extremely isolating for Effie. In the second episode of our two-part series with Effie, she shares that finding the world of podcasts, documenting similar experiences to her own, was magical. Effie explains how important it is to find others who "get it" and how this feeling of belonging changed everything for her. As Effie explains, “In this community of rare disease families, every story matters, every effort counts, and every heart is connected. We are stronger together and are empowered by the love that guides us.” She describes her secret to conducting a compelling interview and reminds us to remember who we are here to serve – patients and caregivers.   To learn more about Effie,  her son Ford, his amazing laugh and CTNNB1 go back and listen to the first episode of the two-part series.

Effie Parks, a rare mom, a patient advocate, a podcaster, and host of “Once Upon a Gene” joins David Rintell, Head of Patient Advocacy at BridgeBio to share her story. Recorded during the 2023 Global Genes Conference in San Diego, Effie talks about her journey into motherhood and into the rare community. Effie's son, Ford, was born with CTNNB1 syndrome, an extremely rare genetic condition. Isolated and trying to navigate her new life as a rare mom, Effie stumbled across Two Disabled Dudes and on first listen, realized she now had a community who understood her experiences. With this new understanding, Effie dove into the world of advocacy. CTNNB1 Syndrome is the result of a change to the CTNNB1 gene, which contributes to production of a protein called beta-catenin that has a role in cellular growth and development. While symptoms experienced by individuals with CTNNB1 Syndrome vary and are unique to each person, many individuals experience cognitive challenges, speech, swallowing or feeding difficulties, behavioral issues, motor developmental delays, or impaired vision. In the first episode of this two-part series, Effie shares the story of Ford's birth and diagnosis, the founding of her rare community, and her personal journey to becoming a patient advocate and podcaster. Her mission is to learn, lift the voices of the rare community, connect people to resources and to leave the world better than she found it. *Reference: https://www.curectnnb1.org/ctnnb1-syndrome/

ONCE UPON A GENE - EPISODE 200 Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens Lindsay Stevens is a CTNNB1 mom and a skilled fundraiser who has harnessed her passion and expertise to rally support for CTNNB1 research initiatives. She joins me for a discussion about the art of fundraising and how the smallest efforts can spark profound change. EPISODE HIGHLIGHTS Can you share about yourself and your family? I'm a mom of three children, two typical children and my youngest who was diagnosed with CTNNB1 at about two and a half years old. In my work life, I work for a nonprofit and I'm well-versed in all things fundraising. Why is fundraising crucial for advancing medical research and why is it important for families to get involved? It's up to us as parents to make a grassroots movement and if we're going to approach researchers to find treatments for our kids, they need the financial support to do that. What can parents do to contribute to fundraising goals and maximize contributions? Think about what your skills are and how you can contribute and make a change— writing letters to people you know, advocating, coordinating fundraising events, or something else. Parents need to think about who they know in their personal network where fundraising can come from. If someone is making a gift, it's possible that the company they work for will match the gift. Grandparents want to help and if they're at the age that they need to take disbursements from their IRA's, they can gift it to a nonprofit and avoid tax penalties. Parents can write a letter outlining fundraising goals and make an appeal to people they are sending holiday cards to. Communicate within your network at different milestones throughout the year like at the end of the school year or when the school year resumes, provide updates about your child and ask for a contribution. If someone makes a gift, take the time to write a hand-written thank you note, because acknowledging a gift is just as important as asking for one. LINKS & RESOURCES MENTIONED Dante Labs https://us.dantelabs.com/ Email Lindsay lindsayannstevens@gmail.com CTNNB1 Connect and Cure Podcast https://www.curectnnb1.org/podcast/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email advertisi ng@bloodstreammedia.com for more information!

Ana Gonzalez Hernández es la Vicepresidenta de la Fundación CTNNB1 y madre de una niña afectada por esta enfermedad. Ana nos cuenta su historia, desde la odisea de diagnóstico hasta como llego a ser vice presidenta de esta asociación. Desde su punto de vista como bióloga, madre, e hispana, ella nos habla de del síndrome CTNNB1 y de su fundación.  https://ctnnb1-foundation.org/   Show Notes: Subscribe: Mas Que Raras Podcast   Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter    

If you need a boost of inspiration, a bit of laughter, and a lot of intention, listen to our special guest on the Newborn Screening SPOTlight podcast Effie Parks, who transformed her experiences raising a son with a rare disease to helping others by sharing their stories on her podcast, Once Upon a Gene.  The best way to describe Effie may be as the rare disease parent's best friend… and greatest resource!   She was born in Montana, where she was raised with her 12 siblings.  After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she immersed herself into the world of advocacy.  Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world.   Interview Questions:  You are the host of podcast of Once Upon a Gene, where you speak to others about their journey through life with rare disease. Your mission is to learn, lift voices of the community, connect people to resources and to leave this world better than you found it for others in the rare disease world. What inspired you to start your podcast?   Your baby was diagnosed with a rare disease called CTNNB1 syndrome. Can you tell us what led to the diagnosis and what happened next?   Researchers discovered the genetic testing for CTNNB1 syndrome. While there is no single treatment for CTNNB1 Syndrome, each of the symptoms associated with the syndrome may be treated. Also, CTNNB1 gene is a good candidate for genetic replacement therapy. This exciting to hear the new development and research in treatments. Could you share your process in caregiving to your child with CTNNB1 syndrome? Any advice for new moms? Newborn screening identifies metabolic and genetic disorders at birth. Before your child was diagnosed with CTNNBI, were you aware of newborn screening? What do you think prospective parents should know about newborn screening? You are the host of Once Upon A Gene podcast, can you tell us what inspired to start the podcast? On your Once Upon a Gene blog, you shared that the movie “Back to Future” and especially the main cast member, Michael J. Fox have inspired you. Can you elaborate in what ways to our listeners?  What has been going on in your life recently that you expected and didn't expect?  As you know NBSTRN creates tools and resources to help stakeholders to advance newborn screening research. How could NBSTRN and other organizations such as the Rare Diseases Clinical Research Networks supported by the National Center for Advancing Translational Sciences (NCATS) help you and your community to advance rare disease awareness?  Where can people go to learn more about you? What can people expect from you next?  What is one final thought that you want to leave our listeners with?  What does newborn screening research mean to you?  

ONCE UPON A GENE - EPISODE 196 A Rare Collection - School's Out for the Summer There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Karen Pratt When school lets out for the summer, it's stressful and I have to prepare in advance because I depend on school care for my sons so I can work. I recently received a call that my son Jack would be getting a nurse. Unfortunately, we have been through several nurses who weren't well suited for my son's care. It's been frustrating to not have the help that's desperately needed. My oldest son Luke doesn't qualify for nursing, despite not being able to walk or talk, depending solely on adult care. It's been another stressful summer without sufficient help, balancing all the demands of caring for them at home, working and doing the other things I need to do.  Julie Anderson While other families are opening their pools and planning getaways, my husband and I are planning for our daughter's summer and navigating the effects of CTNNB1. Summer has become synonymous with stress and anxiety for our family. We've noticed that our daughter's meltdowns increase in frequency during school breaks, particularly over summer break. She thrives on structure and the stimulation school provides. We can't provide the same structure, stimulation and attention she receives from aids and teachers at school. We've learned to plan ahead, feel our feelings, adapt and move forward. We found ways to make the summer enjoyable and we've even planned time for ourselves. Jennifer Spina  When I think back to my carefree childhood summers, I recall swimming, running through the woods and exploring with friends. Summer break looks different now. The world is generally inaccessible for a child with physical and cognitive disabilities. The uncertainty and planning for a parent is intimidating and isolating. It's hard to be different and stared at. It can be painful to be surrounded by the able-bodied comparison of your child. For a long time, I avoided situations and places that would trigger me. During a neighbor's backyard gathering, I realized that I didn't want to be the reason Nora couldn't experience true inclusion and relationships with our neighborhood children.  CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

This is the first episode ever that does not feature both Dudes! Sean is joined by our friend and guest host, Effie Parks from the Once Upon A Gene Podcast.  Effie produces short “Effisodes” on her show and one in particular grabbed Sean's attention. With Kyle on the road, Effie agreed to help The Dudes with this episode and takes Kyle's place, in addition to allowing us to share one of her Effisodes. In this Episode: How Effie got into podcasting.  You Got This, Mental Health featuring Shelley Bowen - Grief is a process. Everyone grieves differently.  It's ok to figure it out as you go.  Listen to hear Shelley's wisdom. In an Effisode, Effie talks about a touching experience at a recent Birthday Party. Thank you notes - Rodney Samaco, Ph.D., PT with Dri Links and Resources: Barth Syndrome Foundation This episode brought to you in part by Reata Pharmaceuticals. Reata Pharmaceuticals is the company that makes SKYCLARYS™ (omaveloxolone) 50 mg capsules. Our mission is to develop innovative therapies that change patients' lives for the better. For more information about SKYCLARYS, visit: Skyclarys.com ©2023 Reata Pharmaceuticals, Inc. All rights reserved. SKYCLARYS, REATA, and their logos are trademarks of Reata Pharmaceuticals, Inc.

PARENTS AS RARE - EPISODE 077 A Rare Revolution - HITMC Meets Rare Disease with Grace Vinton, Kristy Dickinson, & Effie Parks Grace Vinton, Kristy Dickinson and Effie Parks join me to continue our conversations from the Healthcare and IT Marketing Conference in February. Enjoy this special cross-collaboration of HIT Like a Girl, Parents As Rare, Once Upon a Gene, and Simply Unbreakable. Be sure to check out these podcasts and I'd like to also encourage you to take one actionable step this month to empower the rare disease voice in some way! EPISODE HIGHLIGHTS Kristy, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? I was diagnosed at the age of 37 with Ehlers-Danlos syndrome, for which there's currently no cure. My journey to diagnosis was bumpy and I experienced a lot of misdiagnosis, treatments that failed, tests, procedures and twists and turns. It was a serendipitous event that ultimately led me to my diagnosis. With a patient-centered healthcare system, it wouldn't have taken me so long to get diagnosed because my condition is genetic and I had numerous incidents through childhood and young adulthood where my disease presented itself. I got my diagnosis by seeing a nutritionist when everything else had failed. I have made it my life's mission to continue to help the rear community in any way that I can. I founded a company called Chronically Simple, a web-based and mobile app that serves as a disease management tool. Adam, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? About four years ago, I was a pretty healthy young guy when symptoms started popping up out of seemingly nowhere. About two years ago, I got involved in social media and advocacy, trying to find community. I felt so isolated and so alone as a parent who was going through this and working through a rare disease diagnosis. Through social media, I found community, really helpful resources, and I was excited to finally be able to not feel so alone. About a year ago, I started my own podcast and started doing speaking engagements and it's been really a wonderful journey since then. I call myself a dadvocate- I'm a dad first and a rare disease advocate second. Effie, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? My husband and I always wanted to be parents and we were so excited when our first little baby was coming. We had ideas, plans and fictional expectations, so we were shocked when he was born super small, and he wouldn't eat, sleep or do anything typically developing babies would do. We were brushed off for four months by doctors telling us we were just worried new parents. And finally he was admitted into a children's hospital for about a week where a geneticist ordered whole exome sequencing. They took samples from my husband and I and about eight months later we got a diagnosis of a rare disorder called CTNNB1. The geneticist told us that he was number 30 in the world with that diagnosis and that she didn't know anything about it. After about two years of trying to find answers and figure out what to do for my son myself, and trying to navigate the healthcare system with no luck, I started a podcast as a platform to tell my story and to hold a place for other people to do the same. Effie, how does the diagnostic odyssey add color and commentary to the healthcare and healthcare innovation landscap

Bienvenidísima quieridísima fauna radial nocturna a este Ritual de lo VIRTUAL de eclecTomeiroland Sedición #476 dedicada al día mundial de las enfermedades raras que se conmemorá el 28 de Febrero. Mi hijo tiene síndrome de CTNNB1, que incluye problemas visuales, motrices y, en general, neurológicos. Como otros pacientes con esta enfermedad, hemos desfilado por diversos especialistas que nunca habían escuchado de esta condición. Toda una odisea para llegar a ser diagnosticados y aún no hay alguien que termine de entender todas las características que él presenta. En México sólo conocemos de dos casos más aunque lo más probable es que haya muchos más que no han podido ser diagnosticados debido a lo practicamente inaccesible que son los analisis genéticos para la mayoría de la población.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.01.21.525006v1?rss=1 Authors: Furtado, J., Geraldo, L. H., Leser, F. S., Poulet, M., Park, H., Pibouin-Fragner, L., Eichmann, A., Boye, K. Abstract: BackgroundThe blood brain barrier (BBB) preserves neuronal function in the central nervous system (CNS) by tightly controlling metabolite exchanges with the blood. In the eye, the retina is likewise protected by the blood-retina barrier (BRB) to maintain phototransduction. We showed that the secreted guidance cue Netrin-1 regulated BBB integrity, by binding to endothelial Unc5B and regulating canonical {beta}-catenin dependent expression of BBB gene expression ObjectiveHere, we investigated if Netrin-1-binding to endothelial Unc5B also controlled BRB integrity, and if this process involved Norrin/{beta}-catenin signaling, which is the major known driver of BRB development and maintenance. MethodsWe analyzed Tamoxifen-inducible loss- and gain-of-function alleles of Unc5B, Ntn1 and Ctnnb1 in conjunction with tracer injections and biochemical signaling studies. ResultsInducible endothelial Unc5B deletion, and inducible global Ntn1 deletion in postnatal mice reduced phosphorylation of the Norrin receptor LRP5, leading to reduced {beta}-catenin and LEF1 expression, conversion of retina endothelial cells from a barrier-competent Claudin-5+/PLVAP-state to a Claudin-5-/PLVAP+ leaky phenotype, and extravasation of injected low molecular weight tracers. Inducible Ctnnb1 gain of function rescued vascular leak in Unc5B mutants, and Ntn1 overexpression induced BRB tightening. Unc5B expression in pericytes contributed to BRB permeability, via regulation of endothelial Unc5B. Mechanistically, Netrin-1-Unc5B signaling promoted {beta}-catenin dependent BRB signaling by enhancing phosphorylation of the Norrin receptor LRP5 via the Discs large homologue 1 (Dlg1) intracellular scaffolding protein. ConclusionsThe data identify Netrin1-Unc5B as novel regulators of BRB integrity, with implications for diseases associated with BRB disruption. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

ONCE UPON A GENE - EPISODE 165 A Rare Collection - Holiday Cheer There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Jessica Johnson I love holiday cookies, parties, and gift-giving, but my best source of holiday cheer is my son. He is the definition of festive and his excitement is infectious, inspiring feelings of cheer and joy. While he and I spent the day decorating our new Christmas tree, I was reminded of what's truly important during the holidays-- being with my family, seeing my son filled with pure joy and happiness despite his challenges. The holidays can bring about stress, anxiety and sadness for many families. For those families finding themselves in a hard season, remember you're not alone and it will get better. However small or insignificant, define your own holiday cheer. Ed Gabler Growing up, the holidays meant a real tree in the corner of the living room, tied to each wall so the cats wouldn't knock it over. My dad read 'Twas the Night Before Christmas to all of us kids and on New Year's Eve. After my children were born, my wife and I started new traditions. Now as a grandparent, we share traditions with our daughter's family, but it looks a little different. Our grandson Cole was diagnosed with SYNGAP1 and making holiday cheer has required some adaptations and improvising. Cole's mom and dad created traditions to include everyone. They focus on the small wins, the smiles and laughs Cole shares when he's happy or excited. Rare holiday cheer is special.  Anthony Royal  As far back as I can remember, the holidays have never been a joyous occasion for me. In South Carolina, the holidays were warm-- no fluffy, white snow or kids speeding downhill on sleds. As a kid with un-diagnosed ADHD and anxiety, having more family around meant more people around to be mad at me for something. I was never keen on Santa either. My wife goes all out on decorations with five Christmas trees in the house, lights, holidays signs and swag along the halls. My son also loves the holidays. He has CTNNB1 syndrome with symptoms that make life difficult for him, many of which have only added to my holiday depression in the past years. My son's excitement for the holidays has helped me to love them again. You could say my heart has grown three sizes since he was born. CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.11.29.518394v1?rss=1 Authors: CHAKRABORTY, S., MAITI, T., Bhowmick, S., Sarkar, S. Abstract: The molecular pathway associated with Multiple sclerosis (MS) is complex and symptomatic treatments are only available right now. Early diagnosis of MS creates a window for healthcare providers to manage the disease more efficiently. Blood-based biomarker study has been done in the past to identify the upregulated and downregulated genes but in this present study, a novel approach has been taken for identifying genes associated with the disease. In this present study, hub genes are identified and the top ten hub genes were used to identify drugs associated with them. Upregulated genes were identified using the dataset GSE21942 (which contains information related to genes identified in the blood of multiple sclerosis patients) and datasets GSE17846 and GSE61741(which contains information related to microRNAs taken from multiple sclerosis patients). Genes associated with microRNAs were identified using miRWalk. Common genes from both miRWalk and the dataset GSE21942 were identified and were subjected to STRINGdb for the creation of a protein-protein interaction network and this network was then imported to Cytoscape for identifying the top ten hub genes. The top ten hub genes were subjected to EnrichR for enrichment analysis of genes. In our study, it was found that CTNNB1 is the gene with the highest degree (116). Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Adenoid Ameloblastoma is a very rare benign odontogenic tumor characterized microscopically by epithelium resembling conventional ameloblastoma, with additional duct-like structures, epithelial whorls, and cribriform architecture. Dentinoid deposits, clusters of clear cells, and ghost-cell keratinization may also be present.These tumors do not harbor BRAF or KRAS mutations and their molecular basis appears distinct from conventional ameloblastoma but remains unknown. Dr. Carolina Cavalieri Gomes from the Universidade Federal de Minas Gerais in Brazil, discusses her team's discovery of CTNNB1 (beta-catenin) exon 3 mutations in 4 of 9 primary cases and 2 additional recurrences. While the occasional presence of ghost cells keratinization was the feature that led the team to initially investigate beta-catinin, this feature was present in only 2/6. Furthermore, nuclear beta-catenin immunoexpression (IHC) was found in 7 of 8 tested samples including some with wild type CTNNB1. The findings support the classification of adenoid ameloblastoma as a separate entity, and not as a subtype of ameloblastoma. The use of beta-catenin IHC could help in establishing the diagnosis in challenging cases. Hosted on Acast. See acast.com/privacy for more information.

ONCE UPON A GENE - EPISODE 156 A Rare Collection - Batten Down the Hatches There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS My best friend- Kelly Vandewerker Prior to 2015, I lived a life unaffected by rare disease. When Effie became pregnant, I hosted her baby shower and couldn't wait for her baby to be born. I had a three year old and one year old at the time and imagined them being best friends, going to summer camp together, and spending summers together on our boat. When Ford was born, we knew something wasn't quite right and over the months that followed, he was placed on a feeding tube and made regular trips to the ER. When we had our scheduled girls weekends, Effie didn't want to talk about it- she was angry. As her friend, I didn't know how to support her and outside of sending meals, I didn't know what she needed. When Ford got his CTNNB1 diagnosis, it empowered Effie to stand up and fight. She knew what Ford was up against, she found a tribe of people and she found her voice. With that, she was able to share how her friends and family could support her and her family. I found my passion in helping Ford through fundraising, advocating, building programs and helping schools write grants to fund programs. When it comes to rare diseases, we're all learning and there are a lot of unanswered questions, so support research, support your friends and love on all the amazing rare kiddos.  Best friend to Parvathy Raman Krishnan- Sri Vidhya Parvathy and I attended school together in India from kindergarten through 12th grade. We knew each other by name and nothing more and came to the United States at different times. When my husband and I learned Parvathy and her husband lived close to us, we met with them and immediately had a spark between our families- like we knew each other forever. As our friendship grew blissfully, Parvathy's husband broke the devastating news to us that their oldest child had been diagnosed with a rare disease. My husband and I didn't know how to respond, whether to ask questions or give their family space. We decided to stay quiet, masking our heavy hearts. I started researching medical terms and gaining understanding so I could talk to my friend. It brought depth to our relationship and it gave us a bigger purpose. I'm always in awe of Parvathy and her husband's grit and determination to handle things, to inspire the world- spreading the message that nothing is too big to handle, merely by living their life everyday.  CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That's right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome.When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on Episode #143 of Once Upon a Gene where genetic counselors shared impactful rare disease stories!On This Episode We Discuss:Effie's son Ford's diagnosis with a rare disorder, CTNNB1 syndromeNavigating a condition that only 50 other people in the world hadHow CTNNB1 Syndrome affects the bodyWhat resources Effie wishes she knew about when Ford was diagnosedAdvice for other parents in the rare disease space who are thinking about having another childFord's feature in Beyond The DiagnosisMeeting other parents and caregivers of people with rare diseasesWhere people can listen to the podcastEffie's son, Ford, was recently cited as the inspiration for a new, accessible and inclusive playground in Washington, you can read the article here! We also wanted to share this awesome graphic that Effie made that includes a detailed list of different things that people can do to support a rare disease family! If Effie's story piqued your interest, check out this blog post entitled “Life Under the Looking Glass” written by Katie Lloyd about her experience battling postpartum depression all while grappling with a diagnosis.To learn more about rare diseases like CTNNB1 Syndrome, visit the National Organization for Rare Disorders, Global Genes, and the EveryLife Foundation. You can follow Effie and Once Upon a Gene on Twitter, LinkedIn, and Instagram!Stay tuned for the next new episode of DNA Today on September 30th, 2022 where we'll be talking to Chris Brandt and Sandesh Patel about Mosaicism! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (SPONSORED)TrakGene has designed a genetics electronic health record. Here's what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Intro music by Scott Holmes

Our guest this week is Spela Mirosovic. who is a psychotherapist and biopsychologist, working as a researcher at the Medical University Ljubljana. Her work is focused on exploring unmet needs of cancer survivors and teaching mindfulness programs. Spela is also a mother to 2-year-old Urban who was diagnosed with CTNNB1, a rare autosomal genetic disorder that affects an estimated 1 out of 50,000 children worldwide. Spela is also co-founded and president of the CTNNB1 Foundation created to help find a cure for this debilitating syndrome. We'll hear Spela's story and much more on this Special Fathers Network Dad to Dad Podcast.Website – https://ctnnb1-foundation.org Email – spela@ctnnb1-foundation.org LinkedIn - https://www.linkedin.com/in/spelakrizanec/ Cure CTNNB1 website - https://www.curectnnb1.org Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations. Special Fathers Network: https://21stcenturydads.org/about-the-special-fathers-network/Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA Please support the SFN. Click here to donate: https://21stcenturydads.org/donate/

Today on the show, I talk to Effie Parks, a fierce podcaster raising a child with a rare disease. After giving birth to her first child, Ford, Effie was dismissed by the medical community over concerns she had about her son's health. Almost a year later, Ford was diagnosed with a rare genetic disorder called CTNNB1 syndrome, which impairs speech and neurodevelopment. Effie had no handbook and no one to turn to, so she picked up a microphone and sounded the rallying cry for parents of disabled children and other caregivers. Her podcast, Once Upon a Gene, won the 2021 WEGO Health Award Winner for Best in Show: Podcast. Effie's here to talk about growing up in Montana, why language matters, and all of life's unexpected pivots.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

ONCE UPON A GENE - EPISODE 122 A Rare Collection - This is Us There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Because of You Heather shares all the ways that she and her family are reminded of the bigger, more deeper meanings of life through, all thanks to her daughter Kate. Their faith has grown as they've learned to trust God more deeply and to let others help. Heather has learned to let go of her lifelong pursuit of perfection and the need to achieve. She's a better mother because she can let go of unrealistic expectations of herself. She's learned to be kinder to herself and how to define success differently. Kate's family is more grateful, more patient, more loving and more accepting of others. They have become part of a community who enriches their lives, supports them, and shows them how to advocate.   Reality Check One moment you're cruising around town with your seasonal cold brew from Starbucks, and the next, you're crying in the frozen food section of the grocery store. Katie shares that she feels this way everyday as a special needs parent to Mary Kay. After witnessing another mother shopping with her children, Katie's reality hit hard. Mary Kay may never be able to grocery shop, walk independently through a store, be able to grab stuff and place it in the cart, or be independent enough to have the experience of shopping for her own food. With support from fellow moms, Katie realized that Mary Kay is going to do what she wants, when she wants. She will continue to hit milestones, and Katie will be there to help every step of the way.  All of Us Brittany shares a story about her family and friends rallying around in support when her son Luca was hospitalized. Through a subsequent diagnosis, Brittany and her family have met therapists, specialists and doctors who serve as an amazing team and their community continues to grow. Their "us" is more than their family, more than their close friends— it includes the medical staff, therapy team and the other rare parents on the journey with them.  Our Village Sophia's village extends beyond her husband and five children. The whole family, the grandparents and the family's church community has rallied around Sophia's son Davis who has CTNNB1. Their family and those close to them are a village dedicated to Davis' success and to finding a cure. They share tears, they share laughs and they're all on this journey together. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

In this episode of the IJGC podcast, Editor-in-Chief Dr. Pedro Ramirez, is joined by Dr. Andreina Fernandes to discuss HPV-independent Cervical Cancers. Dr. Fernandes is a Molecular Biologist, Doctor of Science, and author of “Human papillomavirus-independent cervical cancer,” the Lead Article for the January 2022 issue of IJGC. Dr. Fernandes is a Researcher of the Molecular Genetics Laboratory at the Institute of Oncology and Hematology, and Professor of the Faculty of Dentistry, at Universidad Central de Venezuela in Caracas, Venezuela. (https://ijgc.bmj.com/content/early/2021/12/08/ijgc-2021-003014) Highlights: -The percentage of HPV-independent tumors is very variable, around 5 and 10%. -HPV-independent tumors are characterized by a differentiated molecular profile with lower proliferative activity, a p53 immunostaining, and alterations in PTEN, p53, KRAS, CTNNB1, ARID1A and ARID5B. -Most HPV-independent tumors are adenocarcinomas, however, there have been reports of HPV-independent cases with squamous histology. -HPV-independent tumors are associated with early lymph node involvement, accelerated tumor growth, distant metastasis, and a more aggressive biological behavior, related to a worse disease free survival and overall survival. -The hit and run mechanism could explain the absence of the viral genome in the HPV-independent cervical cancer cases. Andreina Fernandes (@AndreFernandes2)

I recorded the show prior to finding the perfect name for this podcast. The new name of the show is "The Rare Hour" with Christopher Velona. I dedicate this new beginning to our premier guest… Mrs. Effie Parks Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings. After moving to Washington and marrying her husband, Casey, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Effie also has a daughter, Ezzy age 3, who gives her a run for her money in the speaking category. Effie is also the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare diseases. You can check out Effie's current work through these links below! https://www.curectnnb1.org/ https://ctnnb1-foundation.org/our-team/ www.effieparks.com https://www.thedisordercollection.com/

When Effie's son, Ford, was born with an extremely rare genetic condition called CTNNB1 syndrome, she dove headfirst into the world of advocacy. CTNNB1 syndrome is caused by a deletion, partial deletion, or mutation of the CTNNB1 gene. It is a neurological condition that can cause a range of symptoms from mild developmental delays to severe physical and intellectual disabilities. To help herself and others cope with and manage raising a child with a disability or rare genetic condition, Effie started the Once Upon a Gene podcast. She shares her personal stories and interviews other parents, patients, advocates, doctors, scientists, and more.

Today we feature episode 87 - Superheroes from our friend Effie Parks at the Once Upon a Gene Podcast.   This episode features a  few different people and stories about the superheroes in their lives. Check out our interview with Effie in an earlier episode: Episode 129.

Today on the podcast, Jessica Patay and Effie Parks from @onceuponagene discuss the importance of community, and the tension that arises when you feel betrayed by the professionals during your child's diagnosis process. Effie's story and wisdom is rich and relevant - don't miss this episode!About Effie and @onceuponagene - When Effie's son, Ford, was born with an extremely rare genetic condition called CTNNB1 syndrome, she dove headfirst into the world of advocacy. CTNNB1 syndrome is caused by a deletion, partial deletion, or mutation of the CTNNB1 gene. It is a neurological condition that can cause a range of symptoms from mild developmental delays to severe physical and intellectual disabilities. To help herself and others cope with and manage raising a child with a disability or rare genetic condition, Effie started the Once Upon a Gene podcast. She shares her personal stories and interviews other parents, patients, advocates, doctors, scientists, and more.

NAPOVED: Zgodba malega Urbana, pri katerem so odkrili redko gensko napako gena CTNNB1, je prišla v javnost aprila letos in se od takrat že razširila po Sloveniji in svetu. Danes lahko poslušate ponovitev majske oddaje. Zgodba je navdihujoča predvsem zaradi njegovih staršev, ki so z znanstveno pismenostjo in osebno vztrajnostjo našli pot do zdravila za to gensko napako, ki še vedno velja za neozdravljivo. Preučili so študije o tem sindromu in se povezali z njihovimi avtorji ter drugimi znanstveniki, ki se ukvarjajo z razvojem genskih terapij za okvarjene gene. Tako zdaj vodijo projekt razvoja zdravila za to gensko napako, ki združuje znanstvenike s specialnimi znanji. V projekt so vložili vse, kar imajo, kar pa manjka, pa zbirajo prek platforme množičnega financiranja. Rezultat tega projekta ne bo le zdravilo za Urbana, pač pa tudi za druge otroke z enako gensko napako. O podrobnostih se je Cirila Štuber pogovarjala z magistrico Špelo Miroševič, Urbanovo mamo.

ONCE UPON A GENE - EPISODE 093 Leading the World Gene Therapy Program for CTNNB1 With Fellow Rare Mama - Špela Miroševič Špela Miroševič is a fellow CTNNB1 mama to a two year old named Urban. She's done a lot of work to start a foundation for our CTNNB1 gene and get in front of scientists and researchers to find a treatment for our kids. EPISODE HIGHLIGHTS Can you tell me about Urban? Urban just turned 2 years old. He was born a perfectly healthy boy. My labor was perfect, Urban was given a perfect Apgar score and for the first three months everything was fine. It was then that I realized he should be holding his head more than he was and that his movements weren't connected. When I took him to the doctor for a routine check-up, she identified that something was wrong and ordered a brain scan, which began the journey of getting a diagnosis. What motivates you to accomplish all that you have for the CTNNB1 community? The moments I feel angry and hopeless. In those moments, I research to get closer to the hope that we won't always live like this and we can overcome the difficulties and struggles. Even though nothing I've tried has helped Urban, it has brought me a sense of control. I can't control Urban's condition, but it gives me strength to do something to help him even when it's not really helping at the end of the day. Can you tell me about the foundation you started? I'm research focused in psycho-social interventions to improve the quality of cancer patient's lives through mindfulness and psychotherapy. I knew how to read articles and was studying biopsychology, so I had knowledge of hormones, transmitters and about biology. I wrote to Amber Freed, the Founder of SLC6A1 Connect, to learn more about developing gene therapy. She connected me with other parents who led me down the path of developing a gene therapy. I called the head neurologist at the pediatric hospital in Slovenia and told him I wanted to create a gene therapy and he agreed to help me. He connected me to a Slovenian researcher known for his gene therapy studies and only one month later we met to discuss how we were going to make gene therapy for Urban and other kids affected by CTNNB1. I researched all articles on gene therapy, documented the researchers, I did a systematic review of the published research on CTNNB1 cases, noted common mutations, clinical features and suggested gene therapy approaches. With this data, I sent emails to all of the researchers and received great responses that gave me the strength to keep fighting. One email was from an Australian researcher with the Children Medical Research Institute where they have a laboratory for making gene replacement therapy for rare genetic diseases. They said CTNNB1 was a good gene for gene replacement therapy which meant I needed to develop a foundation and collect money to move forward. How will clinical trials work? We don't know yet, but we have secured an organization who will help fund the clinical trial of the gene therapy and give us a free spot at the laboratory. Once the clinical trial is approved in Australia, doctors can apply for use of the gene therapy which can be sent to any country so kids won't have to travel to Australia to get it. RESOURCES MENTIONED CTNNB1 Foundation https://ctnnb1-foundation.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ 

The families of people with rare conditions often feel like they have to live two lives. For the person they love and care about, their son or daughter or their parent, they want to put on a tough and sunny face. When they take their loved one out in public, they want everyone to see just how strong the family is and how everyone should be grateful. They grit and smile through the treatment side-effects, through awkward glances, through long nights. Then there is the other life. The one where they just break down. The one that they try to keep hidden from the world and maybe even that person they care about. They keep it hidden because they may come across as weak or ungrateful or even self-centered. But, of course, they are humans. And they are bound to feel the weight of despair, the confusion of unpredictability, and the odd joy of loving someone through tough times. Unless you have had to live this dual life, everything that I just said can still just remain a theory – something that you can turn off now and go about your day. But for the people with rare conditions and the families around them, this is a reality – day-in and day-out. Effie Parks is someone who has lived that dual life and come out the other side. And she is someone who has merged those two lives and offered an alternative for caregivers and advocates. She is the proud mother of Ford, her son born with an extremely rare condition. Her desire to create the best life for Ford drove her into advocacy and to create “Once Upon a Gene,” an inspiring podcast that reveals the stories of the people living dealing with that dual life. On this episode, we both get real and swap stories about the despair of diagnosis day, the hopes we have for our families, and our challenge to a health care industry still blind to the nuances of life with rare disease. It is an unflinching look at real life, and I know that you will enjoy it. Please subscribe and keep listening to Rare Voices! Effie Parks Bio Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings.  After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy.  Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Music Credits: Westpoint Instrumental by  Sun Shapes

RARE MAMAS RISING - EPISODE 5 Lighting the Way with Once Upon Gene Podcast Host & Rare Mom Effie Parks   When Effie's son Ford was born with an extremely rare genetic condition called CTNNB1 syndrome, not only did she dive into the world of advocacy, but she launched the Once Upon a Gene podcast, a podcast that explores the world of raising children with disabilities and rare genetic disorders. Effie also hosts the Once Upon a Gene TV show on the Disorder Channel. In this episode, we discuss the challenges parents face on the rare disease road and Effie offers ideas and tips to light the way.   EPISODE HIGHLIGHTS   Can you tell us about your son Ford and tell us a bit of your story? When Ford was born, he had a really low birth weight and feeding issues. After 3 months, our pediatrician said, “I'm worried about Ford; you need to take him to Children's.” We heard words like failure to thrive, hypotonia, microcephaly, and we left with an NG tube. We got connected with a geneticist. They said it was CTNNB1, and there were 30 kids in the world with it.   How did your experience lead you to create the Once Upon a Gene podcast? In the beginning, feeling like nobody knew what I was going through and feeling so isolated. I found some comfort in a couple of podcasts, The Two Disabled Dudes being my main one. I was so inspired by what they were doing, and I noticed it was healing me and relaxing me, and it was giving me so much hope. I was so incredibly thankful, and ultimately, I wanted to do the same thing for someone else. I knew it was a piece of my purpose.   What are some of the common challenges you hear people up against? Self-care is such a big one. It can be confusing, intimidating, and overwhelming. I draw four oxygen tanks and put something in each one that I have to do each day, no matter what. I learned box breathing, and that was life-changing to learn. Check out Rose Reif, a therapist for people who have disabilities and their caregivers. She teaches that self-care is the small, consistent things that you make habits that you do every single day no matter what.   What is another pain point you hear from parents? Feeling alone, feeling isolated, feeling misunderstood. That's when people start to look for books, podcasts, blogs, and following advocates to feel less alone.  Find what makes you feel warm and gives you energy. Go find your people. We can't do this alone.   What about Inclusion? What tips do you have to help others include our children?  You have to create boundaries for yourself. It's a muscle that we have to work. We should come at it with the intention of grace and educating, and just being kind. I'm always trying to get Ford involved. There's a resource called the Friendship Circle that is all over the country, and I highly recommend it.   What other pain points? We are talking about money a lot and how expensive our life is.  The Disorder Channel and I just did an episode on the financial stuff. There are groups on Facebook in your neighborhood, and there are sites for parents like you who swap equipment or give away extra supplies or old equipment. I highly recommend finding those groups to take a little bit of the burden of paying for some of this stuff off your shoulders.   Any parting words to our listeners, mama to mama? Accept all of your emotions. They're valid. Notice them. Work through them and let them go. Keep moving and find hope anywhere you can. Find whatever your purpose can be from this to help someone else. Once you can find a glimmer of hope, don't let go of it and find out what you can do with it because there is nothing that can stop a rare disease parent.   LINKS & RESOURCES MENTIONED   https://effieparks.com/ https://www.thedisordercollection.com/ https://rosereif.com/ https://www.friendshipcircle.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

ONCE UPON A GENE - EPISODE 087 A Rare Collection - Superheroes This is a new edition to the podcast that is built on the power of storytelling. This extra special first episode of A Rare Collection will be released once a month and will feature three people from the rare disease community sharing a short story. This month's theme is Superheroes. EPISODE HIGHLIGHTS Casey Parks, Father to Ford with CTNNB1 Casey shares a story from when he was little, going to the comic book store with his dad and brother. His favorite comic was Captain America. As he grew, he still loved superheroes and looked forward to introducing his kids to the world of super heroes in the same way his dad did for him. He hoped his son would love Captain America as much as he did. Casey shares about his son Ford, born with a rare genetic condition called CTNNB1, and how the things he remembers from his childhood, the things he wanted to share with Ford, probably won't be a part of their father-son journey the way he imagined. But what it's taught him instead is that Ford is his real life Captain America. Bo Bigelow, The Rare Disease Film Festival, The Disorder Channel Co-Founder, Father to Tess with Hao-Fountain Syndrome Bo tells a story about a boy he met, a 7 year old superhero. He shares about his 11 year old daughter Tess who has Hao-Fountain Syndrome. She doesn't talk, she has autism, seizures and intellectual disability. At a picnic on a hot summer day, Tess was overheating and miserable. The picnic where Bo was hoping to connect with other parents and other children like Tess had left him feeling isolated and disappointed. Departing the picnic gathering, Bo took Tess to the beach to cool off in the water. A 7 year old boy stood by in the water watching Tess. He asked about her. He asked how old she was. He asked why she didn't talk. He was interested and curious about Tess. When Bo told the boy that Tess didn't speak, the boy reacted with a heroic statement. The boy saved the day. He was a superhero. Daniel DeFabio, The Rare Disease Film Festival, The Disorder Channel Co-Founder, Father to Lucas with Menkes Daniel compares the strengths of superheroes and the often opposite comparison of kids with rare disease- that they can do less than others and there's a lot they cannot do. Daniel's son Lucas needed a wheelchair and needed a food tube. Instead of focusing on Lucas' lack in ability to speak, he focused on his expressions, how infectious his grin was and laugh were. People found his gifts remarkable. With all his challenges, he found and exuded joy and inspired others to do the same. Lucas used the superpowers he had to do good and spread good to those around him. What would you do if you had superpowers? CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Zgodba malega Urbana, pri katerem so odkrili redko genetsko napako gena CTNNB1, se je v preteklem tednu že razširila po Sloveniji in svetu. Navdihujoča je predvsem zaradi njegovih staršev, ki so z znanstveno pismenostjo in osebno vztrajnostjo našli pot do zdravila za to genetsko napako, ki še vedno velja za neozdravljivo. Preučili so študije o tem sindromu in se povezali z njihovimi avtorji ter drugimi znanstveniki, ki se ukvarjajo z razvojem genskih terapij za okvarjene gene. Tako zdaj vodijo projekt razvoja zdravila za to genetsko napako, ki združuje znanstvenike s specialnimi znanji. V projekt so vložili vse, kar imajo, kar pa manjka, pa bodo poskusili zbrati prek množičnega financiranja. Rezultat tega projekta ne bo le zdravilo za Urbana, pač pa tudi za druge otroke s to genetsko napako. O podrobnostih se je Cirila Štuber pogovarjala s Špelo Miroševič, Urbanovo mamo.

Effie came into my life about three weeks ago. Effie is the mother to two children Ezzie, two years old and Ford, four years old. Effie iss the wife of her husband Casey. Settled down on Mercer Island, Life may seem easy on the outside, but Effie is a superwoman. Effie's Son Ford, has a rare genetic disorder, CTNNB1. Ford spends his days in a wheelchair which we call hiss “wheelie”. A happy boy, constantly giving us a smile, showing us hiss tricks and usually playing with bubbles or a ball, his favorite thing EVER. He seriously does not get bored of it! Although Ford is a happy boy, doesn't mean it's always easy on his parents. His parents both work around the clock, working for his happiness and health. Constant appointments, worries, therapy and all. They are superheros. Listen to the rest of the episode to hear more in depth about their life and journey with Ford. You have a purpose, you are wanted, loved, and cared for. You are not fighting your battle alone. You got this! I hope you enjoyed the fourth episode. I'm so happy you're here! Remember to fight for you. All my love, Lily My website- https://anchor.fm/lily-podolsky Instagram- @_fightforyou__ Effie Instagram- @onceuponagene.podcast Effie's Website - https://effieparks.com/podcast You can find cognitive therapy here - You can find DBT here - You can find EMDR therapy here Hotlines: Suicide- 1(800)273-8255 Bullying- 1(800)420-1479 Self-harm- 1(800)366-8288 Sexual Assault- 1(800)656-4673 Lifeline- 1(800)784-8433 Depression- 1(630)482-9696 Drug/alcohol- 1(877)235-4525 Eating Disorder- 1(630)577-1330 Mental Health- 1(800)442-9673 Please reach out. you are NOT alone. All my love, Lily

Have you ever wondered how parents of children with special needs manage everything? The day to day tasks can be overwhelming, challenging, and exhausting. Effie Parks from Once Upon a Gene joins us in the studio this week to share her positive, hopeful, and energetic outlook on life with her son, Ford. Her message is that it is your choice how you approach adversity. Hers is head-on with a smile. But that doesn't mean she neglects herself. Effie has some simple, doable ways for us to take care of ourselves, even if it means we make a Target run. (Disclaimer, she may not always go to Target!)Frankly, I needed to hear her message and I know you will, too. She is amazing!Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings.  After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy.  Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease.Contact Effie if you are wanting advice, resources, or even just an ear at www.effieparks.com.Time Stamps:0:52 - Effie Parks intro2:25 - Once Upon a Gene4:17 - Ford and his condition8:46 - Effie Time11:05 - Toothbrush Test15:35 - You matter the most18:23 - Target and margaritas23:15 - Socializing with Ford28:05 - Judging someone on their character29:31 - Connect with Effie31:01 - Effie's sage adviceSupport the show (https://www.patreon.com/user?u=31725704)

Effie Parks immediately connected to rare disease podcasts when her son Ford was diagnosed with CTNNB1.  However she soon caught up with all of the episodes and came to the end of her lifeline.  So she created the thing that she needed the most.  She connects with other rare disease parents and many others in the Rare Community through her incredible podcast Once Upon a Gene.  Listen to this episode to get insight on the value of connecting to others.