Once Upon A Gene

ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point 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. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich's Ataxia Kyle was diagnosed with Friedreich's Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben.  Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. 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/

Discount Code for 20% off: ONCEUPONAGENE Chelsea and Amber of Lemon Cake—two fellow rare moms on a mission—pop in to remind you that even when seizures, meltdowns, and endless therapies feel like they're winning, there's still room for belly laughs, tiny victories, and yes, a slice of cake. I had so much fun chatting with these bright lights as they shared how a spontaneous Instagram Live turned into a lifeline for parents of medically complex kids. They unpacked those “garage-floor” prayers, served up bite-sized self-care hacks and showed us how to keep carving out joy in the thick of it. Their brand-new 57-page e-book, "Finding Joy in the Journey", is bursting with real-life stories, practical worksheets (including a simple medical binder template), and reminders that you're never alone. Grab your copy at makinglemoncake.com and use code ONCEUPONAGENE for 20 % off—because we all deserve a little extra sweetness in our day. You can also find them on Instagram at https://www.instagram.com/makinglemoncake/ to join the Cake Pop community, soak up their bright energy, and maybe one day snag that killer lemon cake recipe. These women are lifting others in the thick of it, and I'm here for every ounce of their glow.

In this episode, Jeffrey Allen, a passionate advocate for rare disease awareness and a dedicated father to Lucas, who has creatine transporter deficiency. (CTD is also referred to as SLC6A8 Deficiency, CRTR, and X-linked Creatine Transporter Deficiency.Mutations in the SLC6A8 gene result in CTD.While patients with CTD have the necessary AGAT and GAMT enzymes to form creatine, the creatine transporter does not function properly. This results in creatine in the bloodstream, but not in the brain and muscles.) Jeffrey shares his journey of parenting a child with a rare disease, the life lessons he has learned from Lucas, and his experiences participating in the Ruck for Rare and the Beast Games. He emphasizes the importance of community support, advocacy, and the beauty found in challenges. The conversation highlights the significance of genetic testing and awareness for rare diseases, as well as the need for connection and communication among parents in similar situations.

In this episode of Once Upon a Gene, I'm joined again by rare mom and powerhouse advocate Gay Grossman. Gay works at GeneDx—home to one of the largest clinical genomic databases—and she's here to share two exciting updates that could change everything for rare families and patient advocacy orgs. We talk about: GeneDx's new commitment to the cerebral palsy community and why every CP diagnosis deserves a genetic test How families can access exome and genome testing through telehealth The launch of the Discover Snapshot, a tool designed to help rare orgs find, understand, and grow their communities using real genomic data We also dive into why many CP, autism, and epilepsy diagnoses are just the beginning—and how getting to the root cause can open doors to treatments, clinical trials, and life-changing connection.

Turning Kids into Superheroes of Science with O'Ryan Health The world of pediatric autoimmune and rare diseases can feel isolating—especially when answers live behind hospital walls or research centers far from home. But what if science came to you? What if kids could lead the charge in reimagining care? In this episode, I'm joined by Dr. Tim Coleman, co-founder and COO of O'Ryan Health, a company flipping the script on pediatric research. Their breakthrough Artemis Platform is a child-friendly, at-home blood collection and logistics system that supports autoimmune, rare disease, and routine lab testing—making it possible for families to contribute to science and receive care without ever stepping into a hospital or lab. Tim and his team are building something extraordinary: a world where kids become superhero scientists, collecting blood samples at home with a virtually painless device, and helping unlock breakthroughs in real time. Inspired from the lived experience of co-founder Michael Parnell, whose daughter battles juvenile myositis, O'Ryan Health isn't just a company—it's a movement, empowering families to drive discovery and rewrite the future of pediatric healthcare. We talk about:  Why families should lead—not follow—in pediatric research  How at-home blood sampling could power new diagnostics, treatments, and even cures  The vision of a future where all pediatric blood work happens at home If you've ever dreamed of a healthcare system that sees, hears, and respects your child—this conversation is for you. Learn more and become a superhero family at oryan.health Follow along on Instagram: @oryan.health

In this heartfelt conversation, Heather Straughter shares her profound journey through grief after the loss of her son, Jake. She discusses the pivotal moments that shaped her path, the importance of community support, and the ongoing nature of grief. Heather reflects on the complexities of acknowledging loss, the unexpected triggers that can arise, and her evolving perspective on grief hierarchies. Through her experiences, she emphasizes the significance of finding one's own way to cope and the power of humor in navigating the dark moments of grief. In this conversation, Heather Straughter shares her personal journey through grief after the loss of her son, Jake. She discusses societal expectations surrounding grief, the dual nature of grief as both painful and transformative, and the importance of community support. Heather also talks about the creation of her podcast, 'A Place of Yes,' aimed at sharing stories of families dealing with similar challenges, and her mission to help families navigate the complexities of caring for children with special needs. The conversation emphasizes the need for compassion, understanding, and proactive support for grieving families. Follow: Jake's Help From Heaven A Place Of Yes Podcast on Instagram Chapters 00:00 Introduction and Personal Connection 01:41 The Impact of Grief on Life Choices 02:50 Navigating Grief and Community Support 08:21 The Ongoing Nature of Grief 10:33 The Complexity of Grief and Acknowledgment 12:26 Triggers and Unexpected Moments of Grief 15:59 The Hierarchy of Grief 18:23 Coping Mechanisms and Humor in Grief 22:09 The Dark Side of Grief 24:22 Unspoken Aspects of Grief 26:07 Finding Your Own Path in Grief 29:20 Navigating Grief: Societal Expectations and Personal Experiences 32:43 The Dual Nature of Grief: Pain and Growth 36:47 Creating a Supportive Community: The Birth of a Podcast 42:06 Expanding the Mission: Helping Families Beyond Local Boundaries 54:16 Words of Comfort: Supporting Grieving Families

Reimagining Pediatric Care with Imagine Pediatrics For families of medically complex kids, the healthcare system often feels broken—long hospital stays, insurance battles for basic needs, and constant caregiving without real support. But what if there was a better way? In this episode, I'm joined by Taylor Beery, co-founder of Imagine Pediatrics, Jody Copp, a full-time rare disease dad of two boys with Combined oxidative phosphorylation deficiency type 13 associated with a mutation in the PNPT1 gene and whose family has experienced firsthand the impact of their care model. Imagine Pediatrics is changing the game by providing 24/7, in-home, virtual-first medical care designed to keep kids safe at home—not in the hospital. He also has a rad foundation that we will chat about in a future episode: Raising Wheels Foundation If you are in Texas, Florida, and District of Columbia you have access to Imagine Pediatrics! We discuss:

Service dogs are often associated with guiding the blind or assisting with mobility, but their impact goes far beyond traditional roles. In this episode, I'm joined by Sue Bresnahan, a pediatric nurse and rare mom, whose son has CACNA1C-related disorder (Timothy Syndrome). When they welcomed Yammy, his service dog, into their family, everything changed. Yammy didn't just provide companionship—he unlocked a level of independence and confidence that Sue never imagined possible for her son. Sue shares their journey, the process of getting a service dog, and why families of kids with disabilities should consider this life-changing support. If you've ever wondered how a service dog could help a child beyond the traditional reasons, this episode is for you. In This Episode, We Discuss: ✔️ Sue's journey as a rare mom and navigating CACNA1C-related disorder (Timothy Syndrome) ✔️ The unexpected ways service dogs can support kids with disabilities ✔️ How Yammy transformed her son's independence and confidence ✔️ The process of getting and training a service dog ✔️ What families should know before pursuing a service dog ✔️ Overcoming challenges and misconceptions about service dogs ✔️ Advice for families considering a service dog Resources & Links:

I'm joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms, how this technology is helping families solve their diagnostic odyssey, and why some genetic tests miss key information that PacBio can detect. Plus, if you've already had whole genome sequencing without finding an answer, Christian explains why it might be time to take another look. We also dive into the future of genetic testing, what needs to change for sequencing to become a routine part of medical care, and how families and advocates can help drive progress forward. This episode is all about hope, science, and the relentless pursuit of answers. Happy Rare Disease Day, and thank you for being part of this incredible community! Topics Covered: ✅ What is long-read sequencing, and how is it different from traditional genetic testing? ✅ How PacBio's technology is solving rare disease mysteries faster and more accurately. ✅ Why some families don't get answers from whole genome sequencing—and why they should consider trying again. ✅ The biggest barriers to making genetic testing more accessible and routine in rare disease care. ✅ How long-read sequencing could help lead to future treatments, not just diagnoses. ✅ What the next five years of genomic sequencing could look like. ✅ How rare disease families and advocacy groups can collaborate with PacBio to accelerate discoveries. Resources & Links:

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

In this powerful episode of Once Upon a Gene, I sit down with James Griffin, author of Breaking Silence: Living With Sickle Cell Anemia. Diagnosed at just two years old, James spent much of his life keeping his condition a secret, fearing how others would perceive him. He faced excruciating pain, hospitalizations, and the daily challenges of living with a chronic illness—all while navigating school, friendships, and a world that often didn't understand his struggles. Now, as an advocate and author, James is using his voice to raise awareness, empower others with sickle cell disease, and push for better care, research, and understanding. In this conversation, he shares what it was like growing up with sickle cell, the language he's learned to use in emergency rooms to be taken seriously, and how he found the courage to finally open up about his diagnosis. Whether you or a loved one are affected by sickle cell disease, or you simply want to hear an inspiring story about resilience and advocacy, this episode is for you.

In this inspiring episode of Once Upon a Gene, I sit down with Samantha and Wesley Rogers, founders of Lottie's Light Foundation, and proud parents of the incredible Lottie, who lives with a CERT1 mutation. The Rogers share the heartfelt story of how their journey with Lottie led to the creation of a foundation dedicated to empowering families, fostering connections, and encouraging others to find strength in the face of challenges. We explore how their mission encourages fighting for meaningful friendships, dreaming new dreams, and discovering untapped capacity for love and purpose. This conversation will leave you uplifted, motivated, and ready to celebrate the light that shines in every rare journey. Highlights: The heartfelt origin story of Lottie's Light Foundation. Insights into Lottie's personality, resilience, and the joy she brings to those around her. How the foundation inspires families to fight for friendships and redefine their dreams. Samantha and Wesley's advice on finding your capacity in the hardest moments. Tips for building friendships and community in the rare disease world. A reminder of the power of community and the importance of showing up for Rare Disease Day. Mentioned in This Episode: Lottie's Light Foundation Website Rare Disease Day 2025 in San Diego – Event details coming soon! Tips for building friendships and community in the rare disease world. Call to Action: Let's spread the light! Share this episode with your friends and community to celebrate the resilience, strength, and brilliance of the rare disease journey. If you're in San Diego or feeling adventurous, join us for Rare Disease Day 2025! Details coming soon. As always, don't forget to rate, review, and subscribe to Once Upon a Gene. Your support helps bring these powerful stories to more ears!

In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variants of Uncertain Significance (VUS) and offers insight into talking with family members about genetic risks and results. Throughout our chat, Natalie emphasizes that knowledge truly is power when it comes to family planning and navigating the complexities of genetic information. We discuss strategies for deciding between natural pregnancy, IVF with genetic screening, and other alternatives, helping you feel more confident and informed about your options. Whether you're just beginning your journey or seeking clarity in the midst of it, this episode offers valuable perspectives and heartfelt advice. Join us as we learn how to take charge of our genetic health and family-planning decisions with compassion and confidence. Finally, don't forget about the Once Upon a Gene Revival—an uplifting event designed to support, educate, and connect rare disease caregivers. Registration is open now on my website. Links: JScreen Genetic Testing Instagram Once Upon A Gene Revival

Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari In this episode, I'm joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares how his dedication to helping children and families has driven him to create a system that collects and preserves valuable CNS samples—residual materials that would otherwise be discarded. We discuss the incredible impact of these efforts on the future of rare disease therapeutics and how families can play an active role in advancing research. Highlights: Dr. Eskandari's Path to Pediatric Neurosurgery The Inspiration Behind the Biorepository Project What Are Biorepositories and Why They Matter Advocating for Residual Sample Collection Overcoming Challenges in Setting Up a Biorepository Data Sharing and Expanding Access Scaling This Initiative to Other Institutions Links: Combined Brain The Medical University of South Carolina

Links & Resources: Follow Their Journey on Social Media Facebook: Paxtons Pioneers Instagram: Paxtons_Pioneers KCAL News Story Watch the in-depth feature on their family's advocacy here: KCAL Rare Disease Coverage

Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light our way forward. Let's chase those glimmers together! EPISODE HIGHLIGHTS: Effie & Katie welcome guest Megan Gillet. Her daughter, Nellie, endures terminal Infantile MLD. Megan shares her unique journey of embracing life in all its vibrant complexity. Megan opens up about living with grief, disability, parenting challenges, fashion passions, crafting pursuits, and her love of nature—without confining herself to a single niche. She explains what it means to let life unfold authentically, finding the courage to sidestep society's labels and expectations. Through candid conversation, Megan reveals her family's determination to savor each moment, knowing that some of the hardest challenges lie ahead. It's a powerful reminder that truly living isn't about fitting into a box, but rather about spilling beyond its edges, leaving a trail of color, hope, and hard-won joy. Tune in for an inspiring glimpse into a life that refuses simple definitions—and learn how you, too, can find beauty and meaning in every shade of your own journey.

Dear Friends, The holidays can be a beautiful time of connection, joy, and celebration—but for caregivers, it can also be a season that amplifies the weight we carry every day. The expectations, the comparisons, the logistics of making life work for our kids—it all feels louder somehow. This episode is my friendship letter to you, my fellow caregivers, during this holiday season. It's for the days when the to-do lists are endless, the appointments keep coming, and the social invitations feel more isolating than joyful. It's for the moments when you catch yourself scrolling through social media, comparing your life to others, and questioning if you're doing enough—or if you're enough. Spoiler: You are. I recorded this as a 10-minute refuge for you—a place to breathe, to feel seen, and to remind yourself that you are not alone. Together, we're navigating the chaos, the exhaustion, and the love that grounds it all. If you're like me, you might feel the weight of it all a little more during this time of year. Maybe you're thinking about your child's progress or lack thereof, or the struggle to attend even the simplest gatherings without feeling out of place. I see you. I feel you. And I hope this episode feels like a warm hug and a reminder that you're doing an extraordinary job in an extraordinary situation. Every day you carry your child—physically, emotionally, and mentally—is a gift. It's heavy, yes. But it's also rooted in a love that's unshakable. Take a moment, my friend. This one is for you. With love and gratitude, Effie

2024 DSF Biennial Family & Professional Conference June 20th to June 22nd. This three-day gathering united all those committed to improving the lives of individuals with Dravet syndrome – including families, caregivers, clinicians, researchers, and biopharmaceutical professionals. It provided a platform for fostering new relationships and collaborations among families and professionals alike. Recorded sessions from the conference can be accessed on demand by both virtual and in-person registrants through December 31, 2024.  conference@dravetfoundation.org

Episode Highlights: Mindy Henderson, a powerful advocate for disability rights and the Director & Editor-In-Chief of MDA's Quest Media. Mindy shares her journey of breaking barriers in the skies, working tirelessly to make air travel more accessible for wheelchair users and the broader disability community. She delves into practical tips for navigating travel with a wheelchair-using child, explains the importance of universal design, and discusses how sharing your story can be a catalyst for change. Mindy also talks about her book, The Truth About Things That Suck, and the role of mindset in overcoming adversity. Packed with inspiration and actionable advice, this episode is a must-listen for anyone looking to make the world more accessible, one step—or one flight—at a time. Links: Connect with Mindy Henderson on LinkedIn: LinkedIn Profile Learn more about MDA Quest: mdaquest.org Mindy's book - The Truth About Things That Suck: Amazon Link Tammy Duckworth - Every Day is a Gift: Amazon Link Get Involved and Take Action: Share your story on social media to raise awareness. Join disability advocacy groups to support accessible travel policies. Tune in and join us in supporting accessible, inclusive travel! Airplane Travel Tips from a One Million Mile Traveler The recent passage of the FAA Reauthorization Act

A collection of voicemails from rare disease parents who relate to you situation.

ONCE UPON A GENE - EPISODE 243 Chasing Glimmers - Electric Love Disability Retreats Chasing Glimmers is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We're sharing inspiring stories from the community, life lessons we've learned and exploring how glimmers light our way forward. In this episode, we're joined by Colleen Jendreas, the Founder of Electric Love. Electric Love is a nonprofit resource and support for caregivers, with a focus on adventure retreats, hiking, river rafting and extreme outdoor activities. In the rare disease world, she is sparking change, connecting families and helping them find the glimmers, even in the toughest of times.  EPISODE HIGHLIGHTS Can you tell us about yourself? I am the Founder of Electric Love, a resource I developed for caregivers where we connect and go on adventure-style retreats. I'm also raising a kiddo, Owen, who has Lennox-Gastaut Syndrome (LGS), a severe form of Epilepsy. I was catapulted into this world in 2017 and I am out here trying to raise awareness and do something positive for the community that saved me when I was in a dark place. What have you learned about serving others through raising Owen? When you're getting a diagnosis, you go through an intense, emotional, traumatic journey and we realize things will be very different from what we imagined. When it happened to me, I was going through extreme depression and I couldn't even get out of bed. There were people I had met through various support networks who provided me guidance and encouragement and they were my lifeline. With their support, I climbed out of a horribly dark place and it changed a lot for me. I started reaching out to others who were going through the same things, and together, we built a connection that just grew from there. Where did the idea come from to start Electric Love? It started with me and a few other Epilepsy moms who I connected with on social media. We started video chatting and meeting up, realizing how healing it was to connect and build friendships. When we were talking about our shared interests, we talked about how healing it was to be in nature and how we missed having the time and ability to be outside. It all started with a small group of us going to Zion. LINKS & RESOURCES MENTIONED Learn More and Register for Week in RARE (use code FRIENDOFEFFIE) https://globalgenes.org/week-in-rare/ Electric Love Website https://electric-love.org/ Electric Love on Instagram https://www.instagram.com/electric.love.retreats/ Raising Owen on Instagram https://www.instagram.com/raising_owen/ 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/

ONCE UPON A GENE - EPISODE 242 Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections I've been seeing so many online conversations around friendships lately and we've all experienced a ghost ship of friends or people who disappeared or didn't show up for us as we came into the rare disease world. It's an important topic to touch on since so many of us face these friendship challenges. What do we do about it? EPISODE HIGHLIGHTS Find your people. You don't have to let go of old friendships, but it's important to expand your circle to include people who get what life is like for you and your family. Find Facebook groups, explore blogs, reach out to former OUAG guests, or connect with other parents in the waiting room of the doctors offices. Use the power of the internet and social media to find your people. Remember who you were before rare disease. It is easy to forget who we were before we were a caretaker. Connecting with close friends to do activities you enjoyed before caretaking was at the center of your purpose can help you grow and keep your essence. Be intentional. Think about the friendships you want to cultivate and be very intentional about it. Find the people who get your life and know what it's like, then find the friends you'd connect with if it weren't for rare disease. Be intentional about finding meaningful connections with people you'd be friends with no matter what, even before rare disease. LINKS & RESOURCES MENTIONED Learn More and Register for Week in RARE (use code FRIENDOFEFFIE) https://globalgenes.org/week-in-rare/ 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/

ONCE UPON A GENE - EPISODE 240 A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She Yiwei She is a powerhouse mom to little Leo, the Founder of the TNP02 Foundation, a remarkable and brilliant advocate, and she's nothing short of extraordinary.  EPISODE HIGHLIGHTS Can you tell us about Leo's diagnostic journey and how that inspired you to start the TNP02 Foundation? Leo's head circumference wasn't what it should have been and then he had a seizure at two months old. Sequencing pointed to a mutation in a gene and we hit the ground running right away, tapping into our scientific backgrounds. At first, our world came crashing down, but we also had a very fortunate set of circumstances where we could maybe change Leo's outcome if we did the right things. We were thrown into the deep end, but we looked to others and learned a lot from the people who had already paved the way. What is the process for developing an ASO therapy and how do you make the connections to launch it? We had a friend that was in the biotech industry which proved to be a key link for us. We had other friends and parents that helped to connect us as well. Networking is really important because people can help guide you and advise on the best labs to work with.  Can you tell us about Project Baby Lion? The idea behind Project Baby Lion is to take what I've learned and do it again better, in a more sustainable and systematic way. The first phase is to do diagnostics better, combining sustainability with urgency, starting with NICU whole genome sequencing. We hope to prove with data, the potential sustainability of personalized therapeutics within the ultra-rare populations. As early as possible, we want to connect patients and families with their advocacy groups, and where there isn't yet a community, we will try to put together a rapid program to develop a therapeutic plan. What are the goals for Project Baby Lion and Leo's ASO therapy in the future? The most helpful thing to come from Leo's trial will be the sharing of the data and clinical protocol so other families and foundations have a blueprint and recognize that it's possible. We want to put our data where our mouth is and share it out to catalyze a culture of sharing. For Project Baby Lion, I hope to attract investment and interest from the biomedical industry because we can solve the hard problems for our kids, and they're worth it.  LINKS & RESOURCES MENTIONED TNP02 Foundation https://www.tnpo2.org/ Project Baby Lion https://www.tnpo2.org/project-baby-lion Learn More and Register for Week in RARE https://globalgenes.org/week-in-rare/ Creyon Bio https://creyonbio.com/ Charles River Laboratory https://www.criver.com/ Combined Brain https://combinedbrain.org/ 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/

ONCE UPON A GENE - EPISODE 239 Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster Joining me today is my sister, Christy Foster. We're talking about caregiver stress, stress-related pain, how and why it shows up, and how to cope. EPISODE HIGHLIGHTS How does chronic stress affect us physically? The muscle tissue is our body represents our emotional holding and our bone structure represents our thinking mind. Muscle tissue holds us up and helps us move and stay flexible. When there's stress or trauma, pain can happen and without attention, the body will become significant. When we're in pain, it's difficult to care for kids, sleep, and go to work. Things compound and things start spinning, leading to a flight or fight response. It's important to be able to recognize when that pattern shows up and what to do about it before it consumes you, so that you're affected physically less often. What techniques can help with jaw tension and pain? The jaw holds our teeth, moves up and down to chew, and somatically, the joint of the jaw represents flexibility and adaptability. When joints become rigid, there's a pattern of resistance to change and emotional inflexibility. Keeping your mouth shut when you're experiencing strong emotions, like anger, can cause jaw pain because of bearing down and swallowing, creating tension in the muscles and joint over time. Expressing to the degree that you can is healing because the emotion comes up and out.  As a long-term caregiver, how do you build resiliency? Connection will help support your nervous system and will help you to better regulate. It's important to have connection with someone who isn't going to fix you, who will be there when you need to release and vent, that you can talk to about your emotions around grief, rage, sadness or shame, because it takes the edge off and it softens the hit. How do we take notice of our pain and tension and take action? We all have access to nature, whether it's a plant in your home or a backyard area. At least once a day, notice nature— the color, sound, feeling. This helps to get in the visceral sense of feeling versus surviving and being in the mind and thinking. Connect with your people to create a sense of safety and understanding. When our systems feel safe, they can relax. Get rest and, if needed, get the help you need to make time for rest. Any type of meditation or breath work that are mind-body geared are helpful, even if uncomfortable, because feeling the feeling helps to move that energy out of you. Exercise in any way possible to get you into your body, which will help you come out of your mind and the emotional looping that can happen. Self-care is essential, even in little pieces of time. Put your hand on your heart and connect to the feeling of love, compassion and gratitude. Research shows this act of mindfulness and experiencing gratitude helps the body settle into a more regulated state.  LINKS & RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 029 - Put Your Own Oxygen Mask on First https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf-9n7e6-f4dl9-34pey-khhl4-plbpy-y5jw6-w4tay-9d7t9-4rf34-3ct68 My Intuitive Body Website https://christyfoster.co/ Christy Foster on Instagram https://www.instagram.com/christy.f13/ Sinéad Quinn https://www.instagram.com/sineadquinnofficial/ Rare Breathing Room https://www.facebook.com/p/Annie-Lambert-True-You-with-Neora-100070644768526/?_rdr 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/

ONCE UPON A GENE - EPISODE 238 Where the Glimmers Can Surface We were at our beloved park— the one we helped renovate to be inclusive and accessible, then made a trip to a nearby grocery store nearby. Ford loves automatic doors. The grocery store has the usual automatic doors at the entrance, but also has big black swinging doors at the rear of the store, where the employees pass back and forth as they restock the store. It was a slow time of day and the doors weren't swinging back and forth. Ford was determined, running his wheelchair into them, but the doors still were not swinging. At my suggestion that we go to the front of the store to watch the automatic doors, Ford had the ultimate meltdown, biting his arm and making himself bleed. He was screaming, holding onto his wheelchair tire so I couldn't move it and I felt like every eye was watching me as I tried to get him out of the store. We returned to the playground and his little sister approached him, asking him questions, and offering a special leaf bandaid. She returns with a stick and a leaf and she put the leaf on his arm, gently rolling the stick across it. Ford immediately stopped crying and began smiling. I immediately took my phone from my bag because I never want to forget that moment. I've always worried that my kids weren't connecting, but my daughter seems aware enough to nurture Ford in the way he needs. It was a beautiful moment, it was growth, it was a glimmer in our favorite park. In the rare disease life, especially in the really annoying moments, that's where the glimmers can surface— so keep chasing glimmers my friends! 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/

ONCE UPON A GENE - EPISODE 233 Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing LINKS AND RESOURCES MENTIONED Project Findout https://projectfindout.org/ 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/

ONCE UPON A GENE - EPISODE 228 Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum Dr. David Fajgenbaum is is a groundbreaking physician-scientist, disease hunter, speaker, and national bestselling author of Chasing My Cure: A Doctor's Race to Turn Hope Into Action. He joins me to discuss the critical role of unity among our rare disease patient advocacy organizations and why it's important to stick together. We'll also talk about the transformative potential of everycare initiative. EPISODE HIGHLIGHTS Why is it critical for rare disease advocacy organizations to strive for unity? When there's splintering of fracturing among disease groups, there are less resources within each effort and there's a risk of duplicating efforts. There are also only so many experts to participate in a scientific advisory board and there may be competition for those experts among groups. What is your best advice for organizations who may be experiencing competition or friction? Friction happens because we care so much and we're driven to find treatments and solutions. When you want rapid solutions, it's important to recognize that the objectively best and fastest way to make an impact is working together collaboratively and consolidating resources. What advice do you have for ultra-rare disease organizations that are worldwide and have a unique issue of centralizing patients and financial strength? In the past I've seen this done well where existing organizations support new organizations starting in new regions of the world by sharing resources and materials and being a supportive partner. It's critical for disease organizations to work together on a global scale. Can you tell us about Every Cure and how it aims to revolutionize treatments for rare diseases? Every Cure is on a mission to unlock the full potential of every approved drug to treat every disease possible. When a drug is approved for one condition, there's often dozens of other diseases that the drug might be effective in. Every Cure was launched when learning that there was an incredible untapped opportunity to treat more diseases than approved drugs were originally intended for. There are also systemic barriers that prevent the untapped potential from being tapped into. I'm alive, along with thousands of other patients, because of drugs not intended for a disease that we re-purposed. LINKS AND RESOURCES MENTIONED Chasing My Cure: A Doctor's Race to Turn Hope into Action; A Memoir https://chasingmycure.com/books/ Every Cure https://everycure.org/ ONCE UPON A GENE - EPISODE 043 - David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action https://effieparks.com/podcast/episode-43-david-fajgenbaum Share Your Drug Repurposing Insights https://everycure.org/insights/ 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://ww w.facebook.com/groups/1877643259173346/

Connect with Kara, host of The Special Needs Mom Podcast: Instagram: https://www.instagram.com/thespecialneedsmompodcast/ Website: https://www.kararyska.com/ Coaching Opportunities Pathway to Peace {Group Coaching Program}: Schedule a Consult or Contact Me Join The Special Needs Mom Podcast Community FaceBook Group!! Click here to Request to Join

ONCE UPON A GENE - EPISODE 226 From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland Jillian and Scott Copeland are husband and wife, advocates and pioneers who have transformed their personal journey of having a child diagnosed with epilepsy. They have taken off on a quest to create supportive and inclusive environments for kids with disabilities and founded a school, an inclusive living community and the Epilepsies Action Network. They're a force also shaping the policy landscape. EPISODE HIGHLIGHTS Can you first tell us about yourselves and your family? Our journey started about 30 years ago and we've had four sons. Our third son, Nicol, is about to turn 25 years old and when he was 8 months old, he had a prolonged seizure for over two hours and it took us on a different parenting journey than we expected. Since then, we've raised our children together and explored opportunities and possibilities for Nicol, which took us down the path that brings us to today. Our journey with Nicol has given our family a lot of meaning and purpose and it's been an amazing journey. Given that genetic testing hasn't revealed answers for what has caused his epilepsy, how have you managed to navigate the uncertainty and maintained such positivity and strength? Nicol is the lead, the model and we follow his example. Nicol is a wonderful model and he shares a lot of love and joy. He will have a terrible seizure, have to be medicated, feel awful after and wake up the next day with joy. We've had to manage fear and worry, but we take on Nicol's "the sky's the limit" and "can-do" attitude. We don't have the power to control or change a lot, but we do have a choice in how we see it and how we live life. We're both controlling people, but we had to come to terms with what we couldn't control. We'll keep living to the fullest and sharing and feeling love the best we can. Can you tell us about The Diener School? When Nicol was six, he was attending a school that wasn't the best fit for him and we decided to start a school. We found great partners and professionals to help us and we started The Diener School in 2007. The school is a multi-sensory experiential approach with very talented educators, therapists and behavior specialists who work with the kids and with each other. There are elements of the connection of movement and learning, social thinking and other essential curricula and strategies needed for kids who don't learn traditionally and learn through the senses. What is Main Street all about? Main Street is a 70 unit building in Rockville, Maryland where 25% of the units are set aside for individuals with disabilities and 75% of the units are affordable, serving households at 60% or less of the area's median income. On the ground floor, there's a 10,000 square foot community space and it's an inclusive environment open to anybody through membership. It's a place for people to find their happy, to be a part of a community and feel like they belong. What is the Epilepsies Action Network? Epilepsies Action Network brings together a widespread community of epilepsies in one unified voice to lobby the federal government for funds for the epilepsies because it's an under-funded disease, and as a result, there haven't been a lot of treatment advances or breakthroughs. LINKS AND RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 224 - The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed Epilepsies Action Network https://www.epilepsiesactionnetwork.org/ Rare Epilepsy Network https://www.rareepilepsynetwork.org/ The Diener School https://thedienerschool.org/ Main Street https://mainstreetconnect.org/

ONCE UPON A GENE - EPISODE 225 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief. EPISODE HIGHLIGHTS As a sibling under potential pressure to not be a burden, do you still carry those feelings even after Ben's passing? It's hard as a sibling to see everything your parents are facing that's out of your control. As a sibling, there's a need to be on top of your own care and your own emotions. There were no casual complaints in my family growing up. It was either a disaster or business as usual. Filling in that middle space where you have a bad day and want to talk about it didn't exist. We've had to work on that as a family because that's not how we've functioned.  What coping mechanisms help you to write and talk about your experience? I came to the realization that I was going to be emotionally vulnerable, which is uncomfortable. Knowing I would have to talk about my experience and brother, I had to accept it, put it out front, and get really good at talking about it comfortably. I got more comfortable talking about the progression of my brother's disease and my feelings around him, and I used it as a shield.  What would you say to the young person who is living the same life you were living and what questions should people ask that person? The first thing that I would say, and maybe the best thing to ask that person, is about their roles. When do you feel like a sibling? When do you feel like a caregiver? When do you feel like you're an advocate? When do you feel like you are just you? I got stuck in trying to be a lot of those things at once, where the easiest role to ignore was being just me. But everything you push down morphs into something worse. Frustration turns into resentment, fear turns into trepidation, sadness becomes melancholy.  What are the misconceptions people have about death? The biggest problem with grief is that no amount of experience is applicable. It defies the ability to be prepared for it or to use your past to help you cope. I don't think grief gets easier, I think you get better at it. Those that try to give advice to people that are grieving are hanging on to the idea that that time will heal. It's not that your grief goes away, it's that you get better at it. How has your relationship with your sister changed? Ben's death brought us closer and we do a good job of communicating despite handling things differently. There's no right or wrong way to navigate life with a sibling who has a genetic disorder, so we don't judge each other and we're honest with each other.  As a parent, how do you help siblings to have a better experience? Abandon the idea that you owe siblings normalcy. My parents put a lot of effort into delivering normal childhood experiences. Instead, put that energy into helping your children articulate what they want. More important than chasing normal is helping siblings decide what's important to them and how to pursue it. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins https://effieparks.com/podcast/episode-109-what-i-know-for-sure 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/

ONCE UPON A GENE - EPISODE 224 The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed Advocate, rare mom and Founder of SLC6A1 Connect, Amber Freed joins me to talk about ICD-10 codes— the frustrations, the battles, and the common-sense changes we're fighting for in the rare disease community that are pivotal to research, recognition and treatment of so many rare diseases.  EPISODE HIGHLIGHTS What are ICD-10 codes? In 1999, the ICD-10 code was developed by the World Health Organization and it was used to track mortality coding from death certificates. It was the way people were tracked when they died, but it also became the way people were diagnosed and treated for conditions. Today, they drive so much in clinical medicine. When you go to the doctor, they will input a code of the flu, strep throat, or whatever ailment you're affected by. In a practical sense, it is how the doctor bills insurance.  How do misused ICD-10 codes affect our kids? They are the bones of our healthcare system and it impacts rare disease because when we go to the doctor and describe our children's symptoms, we need a code to represent diseases so we can be recognized as a legitimate disease and population and so that patients can be tracked in our healthcare system.  What does an organization need to know and what is the process for applying for an ICD-10 code? There are two chances per year to obtain an ICD-10 code. You submit a formal application and if you're selected, you can present before a committee and then it'll be a year to be issued a code. The application is pretty straightforward, with a scientific component and a clinical component. With a medical board of advisors, it's not hard to complete the application and gather materials.  How can we as a rare disease community fight to help make changes around ICD-10 code use and issuing.  As a community, we need to get the Rare Disease Legislative Caucus involved, get the White House involved, talk to our senators and congressmen. We need to all apply for ICD-10 codes and get loud, tweet about it, talk about it, get noticed.  LINKS AND RESOURCES MENTIONED Combined Brain https://combinedbrain.org/ EveryLife https://everylife.com/ NORD https://rarediseases.org/ Global Genes https://globalgenes.org/ SLC6A1 Connect https://slc6a1connect.org/ Email Amber afreed@SLC6A1Connect.org  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/

ONCE UPON A GENE - EPISODE 221 BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay I'm joined by Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay to discuss BeginNGS, a ground-breaking initiative that stands at the forefront of genetic sequencing and rare disease diagnosis.  EPISODE HIGHLIGHTS What led to the creation of BeginNGS? Rare genetic diseases are an immense health ecosystem challenge- receiving a timely diagnosis. On average, it takes 4.8 years to diagnose a child with a genetic disease, and meanwhile, symptoms continue to worsen and the disease progresses. The goal of BeginNGS is to prevent or reduce the impact on children with rare genetic diseases, minimizing suffering, cost and delay of diagnosis.  Why is BeginNGS an important initiative to support? Anyone connected to the rare disease community shares the same vision for a world where every rare disease patient receives the right effective treatment at the right time. That starts with changing the diagnostic odyssey and ensuring early, fast diagnosis. What is the mission of the BeginNGS Consortium? The BeginNGS Consortium is a partnership of pharmaceutical and biotech companies, sharing a vision of the right effective treatment at the right time. Our vision is ultimately to ensure every baby born in the United States has the opportunity to be screened for rare disorders. What differentiates this program and the consortium is that the patient communities have been represented from the beginning and the patient population communities has been impressive. Some of our working groups are led by members of the patient community to make sure that what's delivered is valuable to the patients.  What are the major pain points to leveraging newborn screening for preventable disorders and broad use of rapid diagnostic genome sequencing? Pediatricians rarely order genome sequencing. We estimate only 2% of children who need the testing get it. Additionally, even when testing is ordered, it doesn't always translate into optimal treatments and there can still be delays in life-saving treatments.  What does the future look like for BeginNGS? The BeginNGS Consortium is comprised of rare disease advocacy organizations, parent support groups, healthcare systems, policy makers, experts in academic medicine, biotech companies developing new genome sequencing methods and pharmaceutical companies developing new treatments for rare genetic diseases. We hope to increase the size of the consortium so we can grow the organization and capture every voice and represent every genetic disease. Another strong aspiration is to raise grant support and funding to complete and deploy our pivotal clinical trial.  LINKS AND RESOURCES MENTIONED BeginNGS https://radygenomics.org/begin-ngs-newborn-sequencing/ Alexion https://alexion.com/ ONCE UPON A GENE - EPISODE 213 - Finding Strength In Every Step https://effieparks.com/podcast/episode-213-finding-strength-in-every-step Frontiers 2024 Conference https://radygenomics.org/frontiers-conference/ 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/

ONCE UPON A GENE - EPISODE 220 A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action 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 Katie Scheid The beginning of my care-giving journey was filled with trauma, disbelief and a complete re-shaping of the life I knew. My daughter Millie is three and a half years old and I am her full-time, unpaid caregiver. She suffered a severe stroke just before she was born, resulting in complete care for the rest of her life. She is blind, can't sit or hold her head up, can't speak or control her body's movements. She's tube-fed and has over 50 seizures each day. In Washington, kids like Millie, whose needs qualify for in-home care, can have any person be their hired care-giver, except a parent. Millie was assessed and allocated for 185 hours per month of paid, in-home care-giving to alleviate the burden on us as her primary care-givers. After 6 months, we didn't receive a single applicant. I quit my job to be her care-giver and we've struggled to live on one income since. Parents Empowering Parents of Washington (PEPWA) is a group of over 550 advocate members working to change the laws in Washington. We are leading the fight to access the service our kids qualify for and we demand better for ourselves and our kids. Lindsey Topping-Schuetz On January 10th, I testified before the Washington State House Committee on Human Services, Youth and Early Learning in favor of HB2184. This legislation would authorize payment of parental care-givers of minor children with developmental disabilities. January 10th is a significant day for my family. Seven years ago, my husband and I would leave the hospital for the first time with our son, Owen. He spent 103 days in the NICU. We walked down the hallway lined with staff and family, everyone clapping and cheering. Owen came home dependent on oxygen and a feeding tube. He would have dozens of episodes a day that left him struggling to breathe. At three years old, Owen was granted hours to pay someone other than my husband or I to care for him. It's nearly impossible to utilize these hours because there's a shortage of nurses and they're not provided with the medical training required to care for my son. Care-giving a child like Owen goes well beyond parenting. The financial hardship has burdened our entire extended family. HB2184 has the ability to change the lives of families like mine. It is time for Washington to acknowledge the work of parent care-givers in the same way as all other care-givers. Emily Holloway I'm the mom of four children and I live in Virginia. Our daughter Chloe was diagnosed with a rare disease of her lymphatic system. While her life was seemingly normal for the first eight years, we drove head first into the medical world when she began showing signs of the disease. Working full time wasn't realistic, so I left my teaching career and our family income was cut in half. Chloe receives g-tube feedings and several medications, she needs assistance bathing and walking, she attends weekly therapy sessions and she requires a lot of care. I was given the opportunity to become her paid care-giver and I was thrilled to be home caring for Chloe, contributing to our finances, an opportunity that ended when the pandemic and medical lockdown concluded. Medicaid believes care-takers now need to head back to work and hire care-takers for their children. Additionally, there's a maximum amount of care hours a child can receive, regardless of their needs. The best interest of children is missing from these regulations. We hope our legislators will allow the parents who know their children best, love them the most and are the biggest advocates for their well-being, to remain their care-takers and receive a small reimbursement to help pay living expenses. 

ONCE UPON A GENE - EPISODE 219 Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini Amanda Pichini is a genetic counselor from Genomics England, here to share their initiatives and mission.  EPISODE HIGHLIGHTS What is your role at Genomics England and how did your career develop? I work at Genomics England as the Director of Clinical Implementation and I'm responsible for the strategic clinical leadership for our products and services, ensuring research, diagnostics and clinical programs we support are in line with the latest healthcare standards and research. Prior to joining Genomics England, I worked as a genetic counselor, a profession I was interested in for a long time. When I started studying biology, I was keen to do something that allowed me to communicate and speak to people, but still be immersed in science. While my role isn't patient-facing now, I bring my genetic counselor skills to understand the complexities of genetics in healthcare and how we communicate to various audiences to design and deliver our programs. What are the current initiatives at Genomics England? Since the 100,000 Genomes Project, we are focused on working with the NHS to provide genome sequencing as a standard clinical test. We've worked hard to ensure healthcare professionals understand how to help families through the process, manage their expectations and potential results of genome sequencing. We're also focused on looking at different types of sequencing technology we can use to enhance the testing and care for cancer patients, and also a newborn genomes program which is part of a large-scale national research study called the Generation Study. This study will sequence the genomes of 100,000 newborn babies with a goal of understanding if sequencing in the newborn period can help identify rare conditions earlier in life, with the ideal goal of improving the quality of life and outcomes for the babies identified as having a rare condition. Can you talk more about the newborn screening? Like in the US, we do a heel prick when a baby is about 5 days old at the parent's discretion. We recommend it as public health and to look for rare conditions that could be treated if found early. We currently test for 9 conditions, but the Generation Study is an optional screening in addition to standard newborn screening. It will be available to parents at different hospital sites, a baby doesn't already need to be ill and parents don't have to have a known history to participate. At birth, a small amount of cord blood will be taken and that sample used to carry out genome sequencing and to look for around 200 rare conditions that we feel would have an early intervention option if found through screening. We will follow up on every test, with much closer monitoring and follow-up where a condition may be positive. LINKS AND RESOURCES MENTIONED Genomics England https://www.genomicsengland.co.uk/ Genetic Alliance UK https://geneticalliance.org.uk/ Genetic Alliance US https://geneticalliance.org/ 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/

ONCE UPON A GENE - EPISODE 217 Uniting Science and Hope - COMBINEDBrain and its Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell Terry Jo Bichell is a rare mom, neuroscientist and the founder of COMBINEDBrain, a nonprofit organization revolutionizing the approach to clinical treatments for rare genetic neurodevelopmental disorders by pooling efforts, studies and data.  EPISODE HIGHLIGHTS Can you share a little bit about yourself and how you came into the rare disease space? I am a mom of five grown kids and my youngest is 24 years old and has a diagnosis of Angelman syndrome. With that, everything that was interesting to me wasn't interesting anymore and I turned my attention to neurological, genetic and developmental things. I worked as a nurse and midwife before my youngest son was born and I took a particular interest in research. Research felt like it was taking forever and I had the innocent notion that I could push things faster if I only had the right science degree, so I went back to school and got a PhD in molecular neuroscience. What inspired you to form your organization, COMBINEDBrain? While I was working on my PhD, scientists figured out treatments for Angelman syndrome and a way to measure if the compounds were working was needed. I was drafted to work on the Angelman Biomarkers and Outcome Measures Alliance (A-BOM) and learned I could take what  I knew about Angelman and apply it to a lot of other similar disorders. I started COMBINEDBrain to take the lessons from A-BOM and expand it to as many other disorders as possible.  What are COMBINEDBrain's key services and programs? The biorepository has over 900 individuals represented and we collect all samples to be used for biomarker studies for use in stem cells. We have a COMBINEDBrain registry that any disorder member can use for free and transfer data into their own portal. Project FIND-OUT has a goal of facilitating early diagnosis of rare genetic neurodevelopmental disorders in infants based on 7 symptom categories. In the future, we'll also expand this offering to adults.  Can you tell us about the COMBINEDBrain Roadshow? Many of our participating member organizations are having conferences this year across the country. We have asked each organization to open their conference to other member organizations so we can collect COMBINEDBrain member samples at those sites. This allows us to meet local families and opens up an opportunity to stop by the conference and submit their donation. We can also send a mobile phlebotomist to patient homes to collect and submit samples.  LINKS AND RESOURCES MENTIONED COMBINEDBrain https://combinedbrain.org/ Angelman Syndrome Foundation https://www.angelman.org/ The Foundation for Angelman Syndrome Therapeutics https://cureangelman.org/ Simons Searchlight https://www.simonssearchlight.org/ Rare-X https://rare-x.org/ Probably Genetic https://www.probablygenetic.com/ AmbitCare https://ambitcare.com/geneticseizures/ Project FIND-OUT https://projectfindout.org/ 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/

ONCE UPON A GENE - EPISODE 201 A Rare Collection - Five Advocacy Aces Share Their Conference Commandments EPISODE HIGHLIGHTS Melissa Hioco, STXBP1 DO: Offer a family hospitality room where parents can see the broadcast and stay involved in the conference. Provide sibling spaces and make them feel special.  Spend the extra money to provide a buffet dinner and a kid's buffet with kid-friendly food. Ask for discounts on everything. Find a local AV company who will work within your budget. Create sponsorship tiers and ask for sponsorship. Provided one-on-one genetic counseling to families at no cost. Provide social opportunities for families to connect with researchers.  Utilize an event center with a hotel for accessibility.  Research if a city or state has incentives available when holding events there. DON'T: Offer childcare because it's a liability. Provide a plated dinner because it's logistically complex. Accept the initial quote you're provided without trying to negotiate costs. Use the hotel's AV company because the cost will be higher. Trish Flanagan, HNRNPH2 DO: Invite not just impacted families to your event, but also the researchers carrying out studies about your rare disease.  Poll your community about event location, dates that work best, and discussion topics.  Provide speakers with plenty of notice when inviting them to a conference.  Make sure your event space adequately supports the patient and families' needs. Be transparent about the cost, inclusions and exclusions of the event.  DON'T: Don't leave the research team to organize and schedule patient assessments without your input.  Don't overlook having an interpreter and special equipment that may be needed. Amy Fenton Parker, BDSRA  DO: If your budget allows, utilize a professional conference planning team. Include a family reunion reception or party so families can reconnect. Schedule separate break-out sessions for moms, dads, siblings, and other caregivers. Use a technology provider who will make suggestions for the best outcomes and to make your conference dynamic. Explore pre-recorded sessions and livestreams. Offer a breakfast buffet so guests start their day off right. Provide trained professionals for childcare and make parents aware of the offering. Take advantage of area professionals who can offer services at the conference. Create a planning committee to brainstorm ideas and help on the day of the event. Utilize your board to assist with speakers Kara Kilroy, JdVS DO: Make space for families to connect and share.  Manage volunteers well, meeting with them in advance to communicate plans and coordination. Spend money on AV to ensure you have the right set-up in-person and also capture recordings and/or livestreams. Sit with families and take everything in, enjoying the moment and appreciating all your hard work.  Have a planning committee. DON'T: Don't expect perfection and be ready to roll with changes and pivot. If you provide childcare, ensure you have options for different age groups and different needs so parents get the most out of their attendance.  Ashley Point, KdVS DO: Recruit volunteers. Find a host family in the local area to accept shipments, recommend local services and companies and connect you with volunteers. Work with an event site company who understands your needs and who can negotiate costs on your behalf.  Fundraise, fundraise, fundraise. Ask, ask, ask. Set a budget early, but stay flexible. Set a rough agenda based on what's important to your community. Be sure to allow for time for families to gather together and add breaks during the event.  LINKS AND RESOURCES MENTIONED STXBP1 HNRNPH2 BDSRA JdVS KdVS ONCE UPON A GENE - EPISODE 200 - Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens