Rare Connection

Sanfilippo Syndrome with Chelsea from Michigan

Send us Fan Mail When you hear “dementia,” you probably think of Alzheimer’s disease and older adults. But children can develop dementia too. In this episode of Rare Connection, Joanna Ball welcomes Chelsea Walline to share the story of her daughter, Elle, who was diagnosed with Sanfilippo syndrome Type C at age seven. Following diagnoses of sensory processing disorder and autism, genetic testing brought an answer the family never expected. Chelsea shares who Elle is, their journey to diagnosis, and how their family became advocates working to raise awareness and fund research toward a treatment. We explore childhood dementia, the importance of genetic testing, daily life with a rare disease, and the role families play in moving research forward. Meet Elle, learn about Sanfilippo, and discover how you can support families working toward a different future. Follow and support Team Elle: • Website and fundraiser: https://saveelle.com/ • Instagram: https://www.instagram.com/cure_elle/ • Facebook: https://www.facebook.com/p/Team-Elle-61579542872436/ • TikTok: https://www.tiktok.com/@team_elle Learn more: • Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/ • Team Sanfilippo: https://teamsanfilippo.org/ • Childhood Dementia Initiative: https://www.childhooddementia.org/ Share this episode to help more people recognize that dementia can affect children. Follow Rare Connection for conversations with rare disease patients, families, advocates, and researchers. Support the show

HCU & NF1: Mathew’s Story...

Send us Fan Mail What happens when signs of a second rare condition are dismissed because a child already has one diagnosis? For HCU Awareness Month, Joanna Ball welcomes Joseph, a father from the United Kingdom, to share the story of his 14-year-old son, Mathew. The youngest of five children, Mathew is nonverbal and lives with Classical Homocystinuria (HCU) and neurofibromatosis type 1 (NF1). Concerns about missed developmental milestones eventually led to a metabolic specialist and Mathew’s HCU diagnosis at age seven. Joseph describes problems with earlier lab testing that delayed answers. Despite Mathew showing signs of NF1, Joseph recalls being told the two conditions were not expected to coexist. Mathew received his NF1 diagnosis at age nine. Joseph’s wife and one of Mathew’s siblings also have NF1. Mathew’s siblings have not been tested for HCU. The conversation explores getting parental concerns heard, supporting a nonverbal child, eye concerns—including loose lenses and reluctance to wear glasses—and travelling with additional care needs. Through Rare Connection, Joanna frequently hears from people living with multiple diagnoses. Mathew’s story reinforces why new symptoms deserve investigation, even when a diagnosis is already established. This conversation highlights how gaps in rare disease education, outdated information, and limited research funding can leave families searching for answers. Patients and caregivers often develop detailed knowledge of their conditions that deserves to be heard and considered alongside clinical expertise. Through Rare Connection, Joanna brings these experiences into public view to encourage learning, support research, and help families get their concerns taken seriously. SUPPORT, INFORMATION AND FUNDRAISING Alex & Any ambassador link https://alexandandy.com/?ref=JOANNABALL HCU Network America: https://hcunetworkamerica.org/ HCI Network America is a 501c3 nonprofit (EIN) is 81-3646006. Donations go towards research and education and are tax deductatble Thanks in advance to anyone who donates. You can donate to any of the Homocystinurias by following the link: Research Funding Thermometers - HCU Network America Support HCU Network America: https://hcunetworkamerica.org/how-to-donate/ Nerve Tumours UK—information and support: https://nervetumours.org.uk/ Support Nerve Tumours UK: https://nervetumours.org.uk/get-involved/donate NHS information about NF1: https://www.nhs.uk/conditions/neurofibromatosis-type-1/ CLINICAL RESEARCH Explore HCU studies: https://clinicaltrials.gov/search?cond=Homocystinuria Explore NF1 studies: https://clinicaltrials.gov/search?cond=Neurofibromatosis%20Type%201 Check each study’s current recruitment status, locations and eligibility requirements, and discuss participation with your care team. Support the show

Living With Myasthenia Gravis: Tracking Symptoms Between Visits | Camden Hill, California

Send us Fan Mail Your symptoms don’t stop when a doctor’s appointment ends. But how do you explain everything that happened between visits? In this episode of Rare Connection, Joanna Ball welcomes Camden Hill from California, founder of Areluno Health. Diagnosed with myasthenia gravis in 2017, Camden shares how his experiences navigating healthcare inspired him to help patients document their daily health and communicate more clearly with providers. We explore life with myasthenia gravis, the challenges of explaining changing symptoms, and the importance of making patients’ experiences visible beyond the exam room. Camden also introduces Areluno’s approach to symptom tracking, accessible voice input, and shareable health reports—including PDFs for providers who don’t use the platform. Whether you live with a rare disease, support someone with chronic illness, or work in healthcare, this conversation asks: How can we bring more of the patient’s everyday experience into care? Connect with Camden: Areluno Health: https://arelunohealth.com/ His book, Body At War: https://www.amazon.com/dp/B0GX2WLSX8 Follow Rare Connection and share this episode with someone whose story deserves to be heard. This episode shares personal experiences and general information and is not a substitute for individualized medical advice. Support the show

Rare Patient Voice with Wes Michael President & Founder

Send us Fan Mail In this episode, Joanna speaks with Wes Michael, President and Founder of Rare Patient Voice, a market‑research industry veteran with over 40 years of experience. Wes shares how his unique background — from an MBA at the University of Chicago Booth School of Business to a BA in English from the University of Pennsylvania — shaped his mission to build a patient‑driven research panel that puts privacy, trust, accessibility, and respect at the center. Wes explains how Rare Patient Voice began by elevating rare‑disease communities and has now expanded to include people living with common conditions, creating one of the most trusted patient‑insight networks worldwide. He breaks down why finding the right patients matters, how patient voices influence research and product development, and why paying patients for their expertise and time is essential for ethical, high‑quality insights. This conversation dives into: How Rare Patient Voice finds and connects patients and caregivers with meaningful research opportunities Why a patient’s voice matters more than ever in shaping future treatments and technologies The importance of privacy, data protection, and trust in patient‑research partnerships How to protect yourself when participating in studies Why accessibility and fair compensation are non‑negotiable What Wes sees coming next for patient engagement, global expansion, and the future of patient‑driven research Wes also shares personal stories — from running cross country in Edinburgh to walking Ace and Stanley, his beloved dogs — and reflects on the joy of hearing from patients who feel empowered after participating in a study. #RareConnection #RarePatientVoice #PatientAdvocacy #PatientExperience #PatientInsights #MarketResearch #HealthcareResearch #PatientVoice #PrivacyInHealthcare #DataProtection #AccessibilityMatters #PayPatientsFairly #CaregiverVoices #RareDiseaseCommunity #CommonConditions #MedicalResearch #PatientStories #HealthEquity #PatientCenteredCare #ResearchEthics #HealthcareInnovation #PatientPanel #GlobalHealthResearch #PodcastEpisode Support the show

Dystonia-Parkinsonianism With the Stone Family from Maryland

Send us Fan Mail In this episode of Rare Connection, Joanna speaks with Jeneva and Roger Stone and their son Rob about living with Dystonia-Parkinsonianism, a rare neurological condition affecting movement and speech. Rob communicates using eye-gaze technology and shares his perspective on communication, independence, advocacy, caregiving, and his hopes for future employment. The Stone family also discusses ceiling-track Hoyer lifts, limitations in insurance coverage, and how the right equipment can improve safety and independence for disabled people and their caregivers. #denovo, #Parknson's Disease, #DYT16, #EyeGsze, #Nonverbal Support the show

Wiedemann-Steiner Syndrome With Melissa From New Jersey

Send us Fan Mail What happens after a family finally gets a name for a rare condition? In this episode of Rare Connection, Joanna talks with rare disease advocate, author, and Rare Genes Movement co-founder Melissa White Boyer about her son Parker's journey with Wiedemann-Steiner syndrome (WSS), a rare genetic disorder associated with changes in the KMT2A gene. Melissa shares the signs that eventually led to Parker's diagnosis, what it was like to receive an answer for a condition few people have heard of, and the challenges that continued after the diagnostic odyssey was over. We also explore why rare genetic disorders don't always look like their textbook descriptions, how WSS can overlap with other genetic syndromes, and what happens when families find themselves educating healthcare professionals about their child's condition. Melissa discusses the gaps she encountered after Parker's diagnosis and how those experiences helped lead to Rare Genes Movement, which supports families across rare diagnoses. We also talk about inclusion and Melissa's children's book, I Am Rare, including one particularly powerful question from the story: Does the world have room for me? Melissa explains what she wanted that message to mean for children with rare conditions—and for the people and communities around them. In this episode: Parker's road to a Wiedemann-Steiner syndrome diagnosis WSS and the KMT2A gene Why someone with WSS may not have every "classic" feature Conditions that can resemble WSS Navigating healthcare after a rare diagnosis When parents know more about a rare condition than their healthcare providers The gaps that inspired Rare Genes Movement Inclusion, belonging, and disability The story and message behind I Am Rare What Melissa hopes doctors and researchers will learn from families like hers Rare disease is more than a diagnosis—and a medical chart can never tell us everything about the person behind it. Check out Melissa's Book I Am Rare available on Amazon: I Am Rare: White Boyer, Melissa, Piwowarski, Marcin: 9798993195902: Amazon.com: Books Support the show

Ceiling Track Lifts and Eye Gaze Technology With Jeneva from Maryland

Send us Fan Mail How do you advocate, communicate, and maintain independence when you can't rely on your own voice or easily transfer from bed to wheelchair? In Part 1 of this special two-part episode of Rare Connection, I sit down with Jeneva Stone, Maryland NORD Ambassador, disability advocate, and mother of Rob Stone, who lives with the ultra-rare movement disorder DYT-PRKRA. This episode focuses on the innovative technology that has transformed Rob's daily life. We discuss the differences between ceiling-mounted and traditional Hoyer lifts, why insurance and Medicaid may cover this life-changing equipment, and how adaptive technology has increased both safety and independence. You'll also hear Rob deliver part of one of his own advocacy speeches using his eye-gaze communication device—a powerful reminder that communication is about far more than speech. In this episode you'll learn: What a ceiling-mounted Hoyer lift is and why some families choose it over a traditional lift. How Medicaid and insurance may help cover adaptive equipment. How eye-gaze technology allows people who are unable to speak verbally to communicate. The challenges Rob faced while learning to use eye-gaze technology. How adaptive technology can empower advocacy and independence. Coming in Part 2: We'll explore DYT-PRKRA, Rob's diagnostic journey, how the condition differs from Parkinson's disease, additional caregiving considerations, and the remarkable advocacy work Rob and Jeneva continue to do for the rare disease community. I also like that this description doesn't mention the recording issue at all. To the audience, it simply feels like you intentionally divided the conversation into: Part 1: Adaptive technology and independence. Part 2: Diagnosis, caregiving, and advocacy. Given the material you've described, I think that's a natural split and one that should keep listeners looking forward to the second episode. Support the show

Narcolepsy With Heather from Maine

Send us Fan Mail Living with Narcolepsy | Heather's Journey from Surviving to Thriving Narcolepsy is often misunderstood. Many people associate it with suddenly falling asleep, but the reality is far more complex. Living with narcolepsy can affect work, school, relationships, and everyday life, and many people spend years searching for the right diagnosis. In this episode of Rare Connection, Joanna sits down with Heather, the Maine NORD (National Organization for Rare Disorders) Ambassador, who is also Miss Maine for America Strong 2026 and preparing to compete for the national title. Heather shares her personal journey of living with narcolepsy, becoming an advocate, and inspiring others with her message that it is possible to go from surviving to thriving. During this conversation, you'll learn: What narcolepsy is and how it affects daily life Why narcolepsy is frequently misunderstood and misdiagnosed Heather's journey to diagnosis How advocacy has shaped her life Her role as Maine's NORD Ambassador How competing as Miss Maine for America Strong has given her another platform to raise awareness Why hope, education, and community matter for people living with rare and chronic conditions Whether you're living with narcolepsy, supporting someone who is, working in healthcare, or simply interested in learning more about rare diseases, this episode offers insight, encouragement, and practical awareness. About Rare Connection Hosted by Joanna Ball, Rare Connection shares the stories of patients, caregivers, advocates, researchers, and clinicians from across the rare disease community. Through connection, education, and conversations about research and clinical trials, the podcast aims to improve awareness and help people affected by the more than 10,000 known rare diseases. Connect with Rare Connection Subscribe for new episodes. Follow Rare Connection on YouTube, Facebook, and your favorite podcast platform. If you have a rare disease story or work in rare disease advocac Connect with Heather: LinkedIn: Heather DiBenedetto | LinkedIn Instagram @Heatherbwalker Support the show

Undiagnosed With Christine from Pennsylvania

Send us Fan Mail What happens when someone with a background in scientific research becomes the patient? In this episode of Rare Connection, I welcome Christine McGarvey, Pennsylvania State Ambassador for the National Organization for Rare Disorders (NORD), member of the Undiagnosed Diseases Network Foundation (UDNF) PEER Group, scientist, educator, advocate, and mother. Christine's journey is unlike most. Despite earning degrees in biochemistry, cell and molecular biology, and science education, she has spent years searching for answers for her own undiagnosed condition while also advocating for her child, who remains undiagnosed. Their family's story spans three generations, as Christine's mother also lived with an undiagnosed condition. Together, we discuss what it's like to experience the healthcare system from both sides—as a researcher who understands the science and as a patient and caregiver still searching for answers. Christine shares her experiences with the diagnostic odyssey, advocacy, research, the Undiagnosed Diseases Network Foundation, and the importance of bringing patients, clinicians, researchers, and advocacy organizations together to improve the future for those living with rare and undiagnosed diseases. This conversation also highlights the power of collaboration. Throughout the episode, we encourage the rare disease community to share research, resources, patient registries, and connections that may help families still searching for answers. Whether you're a patient, caregiver, healthcare professional, researcher, or simply interested in rare diseases, Christine's story is a powerful reminder that every unanswered question deserves to be explored—and that meaningful connections can help move research forward. Guest: Christine McGarvey • Pennsylvania State Ambassador, National Organization for Rare Disorders (NORD) • Member, Undiagnosed Diseases Network Foundation (UDNF) PEER Group • Scientist, educator, advocate, and mother Resources Mentioned National Organization for Rare Disorders (NORD) https://rarediseases.org/ Undiagnosed Diseases Network Foundation (UDNF) Home Page - UDNF Global Genes https://globalgenes.org/ Rare-X RARE-X – Patient's Data Powering Progress Every Life Foundation for Rare Diseases EveryLife Foundation for Rare Diseases Support the show

FoxG1 With Patricia from New Jersey in Person in Pennsylvania

Send us Fan Mail FOXG1 doesn't just affect the person living with the diagnosis—it changes an entire family. In this special episode of Rare Connection, I travel to Pennsylvania for my first in-person podcast interview with New Jersey advocate, author, and mother Patricia Geurds. Patricia shares her daughter Kinsley's journey with FOXG1 syndrome, discussing the realities of hospitalizations, feeding tubes, a Broviac catheter, specialized surgeries, and the challenges of raising a child with a complex rare disease. She also explains how her family's experience inspired one child to become a nurse, another to become an author, and led her own path into advocacy. Near the end of the conversation, Patricia opens up about the moment that changed her life. A conversation with her life coach helped her realize that sharing her family's story wasn't complaining—it was honoring both herself and her daughter. That realization transformed her approach to advocacy and helped her rediscover herself. We also discuss PulsePoint Respond, a community CPR app, and Noom Vibes, a wellness app that encourages healthy habits and self-care. Whether you're a caregiver, healthcare professional, researcher, advocate, or someone living with a rare disease, this episode is a reminder that sharing your story can create connection, understanding, and hope. Topics discussed: What is FOXG1 syndrome? Feeding tubes (G-tube, J-tube, NG tube) Broviac catheters and specialized surgeries Caregiving and hospital life Family resilience Rare disease advocacy Finding your voice through storytelling Support the show

EveryCat Health Foundation: The Cat Connection to Long Covid Part 2 With Dr Maggie Placer

Send us Fan Mail n Part 2 of my conversation with Dr. Maggie Placer from EveryCat Health Foundation, we continue our discussion of the One Health approach and the surprising connections between veterinary and human medicine. This episode explores how research that began with treating cats has contributed to a broader understanding of antiviral therapies and why researchers are now studying Remdesivir as a potential treatment for Long COVID in humans. While the research is ongoing, it highlights how collaboration across medical and veterinary fields can accelerate scientific discovery. Whether you're interested in rare diseases, infectious diseases, veterinary medicine, or emerging medical research, this conversation offers a fascinating look at how breakthroughs can cross the boundaries between species. If you missed Part 1, be sure to listen to the previous episode for the beginning of this conversation. Guest: Dr. Maggie Placer, EveryCat Health Foundation In this episode: What One Health means in practice How feline antiviral research has informed human medicine Why researchers are investigating antivirals for Long COVID The value of collaboration between veterinary and human healthcare Thank you for listening to Rare Connection, where we connect patients, caregivers, clinicians, researchers, and advocates to educate, inspire, and advance awareness of rare diseases and emerging medical discove Support the show

EveryCat Health Foundation: The Cat Connection to Long COVID In Humans with Dr Placer

Send us Fan Mail Welcome to Season 7 of Rare Connection! What can cats teach us about human health? In this episode, Joanna Ball welcomes Dr. Maggie Placer of the EveryCat Health Foundation to explore the growing field of One Health, the idea that the health of humans, animals, and our shared environment are deeply connected. Dr. Placer begins with a special presentation highlighting the history of the EveryCat Health Foundation, advances in feline research, and how studies of Feline Infectious Peritonitis (FIP) have contributed to our understanding of coronaviruses, including COVID-19. The conversation then continues with an interview covering Dr. Placer's background, the Foundation's mission, and why collaboration between veterinary and human medicine is creating new opportunities for medical discovery. Whether you're interested in rare diseases, translational medicine, veterinary science, or emerging research, this episode offers a fascinating look at how discoveries in one species can improve the lives of another. In this episode: Dr. Maggie Placer's journey into veterinary medicine The mission of the EveryCat Health Foundation The One Health approach to research Feline Infectious Peritonitis (FIP) and its connection to COVID research How veterinary discoveries can advance human medicine Thank you to Dr. Maggie Placer and the EveryCat Health Foundation for joining us to kick off Season 7 of Rare Connection. If you enjoy the show, please subscribe, leave a review, and share this episode to help us continue connecting patients, advocates, researchers, clinicians, and industry leaders around the world. Support the show

Rare Connection 3rd Anniversary Episode With Dr. Margurite Goiter-Stam from Make a Wish International

Send us Fan Mail In this special third anniversary episode of Rare Connection, host Joanna Ball welcomes Dr. Marguerite A.W. Gorter-Stam for a conversation about quality of life, emotional well-being, patient-centered care, and the role hope can play during serious illness. What began three years ago as Nutrition Equity—a podcast focused on access to medically necessary nutrition—has grown into Rare Connection, a global platform connecting patients, caregivers, advocates, researchers, and healthcare professionals. This episode also marks the show's tenth international interview and features a guest joining us from the Netherlands. Dr. Gorter-Stam's background spans surgery, oncology, pediatrics, pediatric palliative care, and Make-A-Wish International. In this episode, we discuss how healthcare extends beyond diagnoses and treatments to include emotional support, quality of life, family-centered care, and helping patients navigate uncertainty. We also explore common misconceptions about pediatric palliative care, the importance of involving patients and families in healthcare decisions, and how hope and resilience can influence the experience of illness. Whether you're a patient, caregiver, healthcare professional, advocate, or simply interested in compassionate healthcare, this conversation offers valuable insight into the human side of medicine. Topics discussed: • Quality of life in healthcare • Pediatric palliative care • Patient and family-centered care • Emotional well-being during illness • Hope and resilience • Caregiver support • Make-A-Wish International • International perspectives on healthcare Thank you for being part of Rare Connection's journey over the past three years. Support the show

Can Targeted Radiation Change the Future of Brain Cancer? | Dr. Marc Hedrick | Plus Therapeutics

Send us Fan Mail In this episode of Rare Connection, host Joanna Ball speaks with Dr. Marc Hedrick, President and CEO of Plus Therapeutics, about emerging technologies aimed at improving outcomes for patients with some of the most difficult-to-treat cancers affecting the central nervous system. Dr. Hedrick discusses leptomeningeal metastases (LM), a serious condition that occurs when cancer spreads to the membranes and fluid surrounding the brain and spinal cord, as well as recurrent glioblastoma, one of the most aggressive forms of brain cancer. The conversation explores the challenges of diagnosing central nervous system cancers, the role of advanced diagnostic tools like the CNSide® CSF Assay Platform, and how targeted radiotherapeutics may help deliver treatment directly to affected areas while limiting exposure to healthy tissue. Topics covered include: • What leptomeningeal metastases are and why they are so difficult to diagnose • Current treatment challenges for LM and glioblastoma patients • The CNSide® diagnostic platform and cerebrospinal fluid testing • How radiotherapeutics differ from traditional radiation therapy • Targeted drug delivery to the central nervous system • Clinical trials and emerging research in neuro-oncology • The future of precision medicine for brain and spinal cancers Whether you're a patient, caregiver, healthcare professional, researcher, or advocate, this episode provides insight into innovative approaches that may help transform the diagnosis and treatment of cancers that spread to the central nervous system. To learn more about Plus Therapeutics and ongoing clinical research, visit https://plustherapeutics.com Support the show Subscribe to Rare Connection and Rare Chef, leave a review, and share this episode to help us connect patients, families, advocates, researchers, and medical professionals around the world. Support the show

McCune Albright Syndrome With Dr. Giwa From Atossa Therapeutics

Send us Fan Mail What happens when one rare condition affects the bones, skin, hormones, and development—but looks completely different in every patient? “In this episode of Rare Connection, Joanna is joined by Dr. Adebola Giwa, a pediatric endocrinologist, physician-scientist, and clinical lead for rare disease drug development at Atossa Therapeutics. He brings more than 15 years of experience in endocrinology, musculoskeletal disease, and innovative therapeutic development for rare conditions.” Together, they explore McCune-Albright Syndrome (MAS), a rare mosaic genetic condition that can affect multiple systems throughout the body. The conversation covers the variability of MAS, including café-au-lait skin findings, fibrous dysplasia, endocrine complications, and why no two patients experience the condition the same way. A major focus of the discussion is precocious puberty, often one of the earliest signs of MAS. Joanna and Dr. Giwa discuss how hormone signaling differs in MAS, why traditional treatments do not always work as expected, and how different therapeutic approaches—including Tamoxifen, aromatase inhibitors, and endoxifen—are being explored. The episode also touches on: How MAS can present differently in boys and girls Why conditions like Acromegaly can occur in some patients The challenges of designing clinical trials in ultra-rare diseases Why finding enough participants for studies can be so difficult The importance of continued rare disease awareness and research Whether you are part of the rare disease community, a healthcare professional, researcher, caregiver, or someone wanting to learn more, this episode offers insight into the complexity of living with and treating McCune-Albright Syndrome. This podcast is for educational and awareness purposes only and should not replace medical advice from a qualified healthcare professional. 🎧 Follow Rare Connection on your favorite podcast platform 📺 Subscribe to Joanna’s YouTube channel, Rare Chef 📱 Follow Rare Connection on Facebook, X, and LinkedIn Support the show

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Friedreich's Ataxia With Alexis From Tennessee

Send us Fan Mail What does it really take to maintain independence when your body is changing? For people living with rare diseases, that question becomes part of everyday life—navigating changes in mobility, access to care, and the challenge of finding the right support. In this episode of Rare Connection, I speak with Alexis Baker, who shares her journey to a diagnosis of Friedreich's ataxia, a rare, progressive condition that affects coordination, balance, and independence. Like many in the rare disease community, Alexis went through multiple doctors and specialists before genetic testing provided answers. We also take a moment to clarify an important distinction: “ataxia” is a symptom—referring to loss of coordination—while Friedreich’s Ataxia is a specific genetic disease that many people may not recognize until it impacts someone they know. But Alexis’s story doesn’t stop at diagnosis. She turned her experience into purpose by founding RiseUp, a nonprofit focused on helping people access mobility devices like walkers and wheelchairs—tools that can restore independence but are often out of reach due to cost. In this conversation, we discuss: The early signs and long road to diagnosis What it’s like living with Friedreich’s Ataxia day to day The challenges of mobility, safety, and maintaining independence Barriers to accessing mobility equipment—and why patients often have to adapt The reality that many rare disease patients must travel long distances to reach specialists, often at academic medical centers And how new treatment options like Skyclarys are beginning to change the outlook for the FA community This episode highlights a reality many patients face: access to care isn’t just about finding a doctor—it’s about being able to get there, having the right equipment, and having a community that understands the journey. Support the show

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Adrenoleukodystrophy With Elisa From New York

Send us Fan Mail Elisa's son, Aidan, was born healthy—but by first grade, he began losing his vision. He was later diagnosed with adrenoleukodystrophy (ALD), a rare genetic condition that progresses rapidly without early intervention. Aidan passed away at just 7 years old. After his diagnosis, Elisa learned that a newborn screening test for ALD already existed—but it had not been implemented in her state at the time. In this episode, Elisa shares Aidan’s story and how she turned her grief into advocacy. She played a key role in passing ALD newborn screening in New York and is now advancing Aidan’s Law (H.R. 534) to expand screening nationwide. We also discuss her work with the newly launched coalition, Surge to Save Newborns, and a first-of-its-kind study outlining state-by-state gaps in newborn screening and the resources needed to ensure all babies have access to recommended tests. This conversation highlights a critical issue: babies across the United States face unequal access to life-saving screening based solely on where they are born. ALD Alliance- Aiden Jack Seegar Foundation ALD Alliance - Aidan Jack Seeger Foundation for Adrenoleukodystrophy Surge to Save Home - Surge to Save Newborns Support the show

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26 Year Stomach Cancer Survivor Healing with Food with Chef Chuck

Send us Fan Mail What does life look like decades after a rare cancer diagnosis—and how does food play a role in that journey? In this episode of Rare Connection, Joanna sits down with Chuck Hayworth, a 26-year survivor of a rare stomach tumor, whose experience transformed not only his health—but his life’s work. Today, Chuck is a private chef and Medical Meal Therapy specialist, helping patients and caregivers navigate one of the most overlooked challenges after diagnosis: how to actually implement nutrition in daily life. Because while many patients are told what they should eat, very few are given the tools to make that sustainable—especially when managing chronic illness, cancer recovery, or complex medical conditions. Together, they discuss: What it means to truly live beyond a rare disease diagnosis The connection between gut health, inflammation, and recovery Why nutrition is often the missing link between medical advice and real life How patients and caregivers can align their meals during treatment and healing The challenges of turning clinical guidance into practical, everyday food choices This conversation also highlights a broader issue within healthcare—while policies like the Medical Foods and Formulas Access Act support individuals with certain conditions requiring specialized nutrition, many patients outside of those categories are still left trying to navigate these decisions on their own. Chuck’s story is one of resilience, adaptation, and purpose—and a reminder that healing doesn’t always follow a straight path. 💬 Join the Conversation If this episode resonates with you, we’d love to hear from you. 🎧 Follow and subscribe to Rare Connection 📺 Watch full video episodes on YouTube at Rare Chef 💬 Leave a comment or use the “Send Me a Text” link in the show notes ⚠️ Disclaimer This podcast is for educational purposes only and is not intended to replace medical advice. Always consult with a qualified healthcare professional regarding your individual health needs. 💛 You Are Not Alone If you or someone you know is struggling, support is available. In the U.S., you can call or text 988, the Suicide and Crisis Li Support the show

Denovo (Genetic But Not Inhereited) With Jenny From Texas

Send us Fan Mail What if two of your children were diagnosed with two completely different rare genetic conditions… on the same day? In this episode of Rare Connection, I speak with Jenny, a mother of four, whose children Avery and Paxton were both diagnosed through whole exome sequencing with two separate rare diseases — Phelan-McDermid Syndrome and Tatton Brown Rahman Syndrome. Both conditions are genetic, but not inherited. They are de novo mutations, meaning they occurred for the first time in her children. Avery, now 19, has Phelan-McDermid Syndrome, a condition often associated with autism, developmental delay, speech impairment, and hypotonia. Paxton, 12, has Tatton Brown Rahman Syndrome, a rare overgrowth and neurodevelopmental disorder linked to developmental differences, autism traits, and intellectual disability. Jenny shares what it was like to receive both diagnoses at once, how her family adapted, and how her daughters Kaylin and Presley have become supportive siblings along the way. She also discusses her work as a behavior analyst and her advocacy efforts in the rare disease community, including her role with CureSHANK and support within the Tatton Brown Rahman Syndrome community. This episode highlights the reality that rare diseases don’t always follow predictable patterns—and that even across different diagnoses, families often share common experiences in navigating care, finding support, and building resilience. 💬 Have a question or want to share your experience? Use the “Send Me a Text” link in the show notes. 🔔 Follow and subscribe to Rare Connection so you don’t miss future episodes connecting patients, families, and professionals across the rare disease community. 🌍 Rare Connection is available on YouTube, Buzzsprout, Apple Podcasts, Spotify, Amazon Music, and more. ⚠️ Disclaimer: This podcast is for educational purposes only and is not intended to provide medical advice. Please consult a qualified healthcare professional for medical concerns. ❤️ If you or someone you know is struggling, help is available. In the U.S., you can call or text 988 for the Suicide and Crisis Lifeline, or visit 988lifeline.org. Support the show

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New Drug For Duchenne Muscular Dystrophy With Dr. Steven Quay

Send us Fan Mail In this episode of Rare Connection, I’m joined by physician-scientist and biotech CEO Dr. Steven Quay to discuss an emerging approach to treating Duchenne muscular dystrophy—and how innovation in one area of medicine may open doors for others. Dr. Quay is the CEO of Atossa Therapeutics, where his team is developing (Z)-endoxifen, a next-generation endocrine therapy originally studied in breast cancer. Unlike tamoxifen, which must be metabolized in the body, (Z)-endoxifen delivers the active compound directly—helping to reduce variability between patients and improve consistency in dosing and response. What makes this conversation especially important for the rare disease community is the potential application of this therapy in Duchenne muscular dystrophy. Research suggests that (Z)-endoxifen may help increase levels of utrophin, a protein that could compensate for the lack of dystrophin in individuals living with Duchenne. We also discuss: What makes Duchenne muscular dystrophy a target for this type of therapy The significance of Orphan Drug Designation How drugs developed for one condition may have applications in others The challenges of bringing new treatments from research to patients Duchenne muscular dystrophy affects approximately 1 in 3,500 to 5,000 boys worldwide, and while progress is being made, many families are still waiting for effective, accessible treatments. 👉 Coming Next: During this conversation, Dr. Quay also introduced the potential application of (Z)-endoxifen in McCune-Albright syndrome, an ultra-rare condition. We’ll be continuing this discussion in a follow-up episode focused specifically on that topic. This episode offers insight into how innovation in drug development may create new possibilities—not only for Duchenne, but for the broader rare disease community. 🔗 Support the Show If you’d like to support Rare Connection, you can use the “Support the Show” link in the show notes. Contributions help continue conversations like this and expand awareness for rare diseases. 💬 Connect & Share Follow Rare Connection on Facebook, X, and LinkedIn Watch full episodes on YouTube at Rare Chef Use the “Send Me a Text” link in the show notes to share your thoughts or questions ⚠️ Disclaimer This podcast is for informational and educational purposes only and is not intended as medical advice. Always consult with a qualified healthcare professional regarding any medical condition or treatment. Support the show

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