Pyroxd1 and the Path Forward: A Rare Disease, a Life-Saving Lesson & a Mission to Help Others- Maria + Matt's Story (246)
Release Date: 03/19/2025
Autism, Advocacy and the Power of a Medical ID Bracelet
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
Tara Cohen opens up about her son Will’s autism diagnosis and how it transformed her family and career. From navigating meltdowns to discovering AAC as a communication lifeline, Tara shares her honest reflections on parenting, resilience, and hope. What began as a search for a medical ID bracelet led to a career at —where she now helps other families feel safe and supported. This heartfelt episode reminds caregivers that advocacy grows from love and that even small acts of compassion can make a life-changing difference. Timestamps 00:00 – Introduction 03:10 – Early diagnosis...
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When Your Baby is Diagnosed with Type 1 Diabetes: Marlee's Story
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
“My baby went from fussy to lifeless in hours—by the time we reached the PICU, they said he might have had six hours to live.” In this episode, TikTok Influencer and Medical Mom , a pediatric speech-language pathologist turned full-time mom, shares the whirlwind diagnosis of her 12-month-old son Bain with Type 1 diabetes and severe DKA, the traumatic hospital stay, and the everyday advocacy that followed. Raw, practical, and deeply hopeful. Why this episode matters Emotional clarity: what a Type 1 diagnosis really feels like in infancy Practical advocacy: scripts, choices, and...
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Brain Surgery for Drug-Resistant Epilepsy: Managing Infantile Spasms
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
Join us for an incredibly candid and informative conversation with Audrey Vernick, a passionate advocate and the Director of Patient and Family Advocacy for the Pediatric Epilepsy Surgery Alliance. Audrey shares the powerful 21-year journey of her son, Bennett, who suffered a stroke in utero and was later diagnosed with the catastrophic epilepsy known as Infantile Spasms. Audrey recounts the emotional process from the difficult labor and early concerns dismissed as normal reflexes, to the terrifying moment she saw his MRI and realized half of his brain was black due to a massive stroke. This...
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Speech Therapy at Home: Expert Tips to Help Your Child Communicate
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
"The excitement that the kids feel when they are seeing you... and they know today's session with Ms. Luba and they can't wait to see you." - Luba Kaplan When a child enters the medical system, parents often meet many specialists beyond doctors and nurses, including Speech-Language Pathologists (SLP). These professionals are vital members of the healthcare team, doing more than just helping with speech. SLPs, as Luba Kaplan explains, also explains how they look at every area of the child's development to ensure children are being fully supported. In this episode, we introduce Luba Kaplan, a...
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Type 1 Diabetes: Finding Community and Humor After Diagnosis
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
When Stacey’s toddler was diagnosed with Type 1 diabetes, her family’s world turned upside down. In this episode, she shares the early warning signs, the struggle of those first two weeks of injections, and how humor and community turned fear into resilience. Parents will gain hope, advocacy tips, and coping strategies for managing a chronic illness diagnosis. What You’ll Hear How Stacey recognized the 4 Ts of diabetes: Thirsty, Tired, Thinner, Toilet The reality of hospitalization, finger sticks, and injections with a toddler Coping strategies: medical play, humor, and...
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NICU Stay, Down Syndrome, and Infant Loss: A Grief Journey
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
In this incredibly personal and moving episode, we sit down with Teejay and Jon, the authors of the gentle children's book , to share the full, raw story of their daughter, Nadiya. Their journey began with an unexpected connection—a transatlantic online romance between Teejay in Australia and Jon in Canada—that quickly turned into a marriage grounded in a shared life and purpose. With Teejay's extensive background in early childhood development and their experience fostering a young man with Down syndrome, they felt prepared when Nadiya was diagnosed with Trisomy 21 (Down syndrome) early...
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Choosing the Best Children's Hospital: Why Rankings Matter (with Ben Harder)
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
Is the "best" hospital just about technology and surgical success? Ben Harder, the journalist who oversees the methodology and data for the U.S. News Best Children's Hospitals Rankings (2025), joins Katie to break down what truly defines quality in pediatric care. Ben shares his deeply personal family story—a tragedy 50 years in the past that drives his commitment to making data-driven information accessible today. This episode is a crucial guide for parents, explaining the three core pillars of the rankings: structure/resources, processes of care, and patient outcomes. We dive into why...
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Heart Transplant for Children: A Mother and Son Face Danon Disease Together
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
Psychologist and heart-transplant recipient Dr. Brittany Clayborne shares how her own medical journey prepared her to guide her son Micah through sudden heart failure, an LVAD, and a life-saving transplant. She unpacks the family’s rare Danon’s disease diagnosis, post-transplant cancer (PTLD), and the everyday realities after transplant—meds, setbacks, and hope. You’ll learn Dr. Brittany’s BRAVE framework for hard moments, how rituals sustain connection during long hospital stays, and how Micah turned his experience into action with Transplant Teens and My Brave Journal. This...
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Bone Marrow Transplant for Sickle Cell: One Family's Cure Story
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
In this episode of Child Life On Call, guest Maite Rodriguez shares her daughter Alessia’s inspiring journey with sickle cell disease (SCD)—from diagnosis at birth and painful crises to finding a cure through a pediatric bone marrow transplant at Memorial Sloan Kettering. Maite discusses the challenges of long-term treatments like hydroxyurea, the emotional toll of hospitalizations, and her family’s decision to pursue IVF to create a genetic match. She also introduces her bilingual children’s book, , which helps families explain sickle cell to children, siblings, and communities....
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How One Mom Navigated her daughter’s Severe Food Allergies (271)- Susanna's Story
Child Life On Call | Medical, Parenting, Healthcare, Grief, Trauma, Pediatrics, Coping Skills, Community & Support
From “colic” that never eased to four pages of confirmed allergens, Susanna Peace Lovell recounts the first years of parenting her daughter, Arizona—years marked by nonstop crying, full-body eczema, and relentless advocacy. When a hypoallergenic formula finally brought relief around 18–19 months, Susanna could breathe—and begin reframing motherhood with compassion for her child and herself. She shares practical allergy survival tips (from table toppers to EpiPens), how autism diagnosis informed self-advocacy, and why community through We Are Brave Together mattered. This conversation...
info_outline"What we realized was that rare isn’t as rare as we think—there are so many of us out here searching for answers, fighting for our kids, and trying to make a difference."- Maria Granados
We extend our sincere gratitude to our sponsor for this episode, Gebauer PainEase®. We are pleased to provide more information about this product, and we invite you to learn more by visiting their website.
What if a simple miscommunication in the hospital could have cost your child their life? For Maria and Matt Granados, parents of a daughter with Pyroxd1, that terrifying moment led to a groundbreaking realization—and a mission to help other families facing rare diseases.
In this powerful episode, we dive into:
✅ The challenges of diagnosing and living with Pyroxd1, a rare neuromuscular condition
✅ A near-fatal hospital mistake that could have changed everything
✅ How they turned their personal struggles into Take Part Foundation, a nonprofit funding rare disease research
✅ The power of storytelling, advocacy, and community for families navigating the unknown
Maria and Matt’s story is one of resilience, innovation, and advocacy, proving that "rare is more common than you think." Whether you’re a rare disease parent, medical professional, or someone looking for inspiration, this episode is a must-listen.
Timestamps & Key Topics
⏱️ [00:00] – Episode Intro
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Welcome to today’s episode featuring Maria & Matt Granados
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Why raising awareness for Pyroxd1 is so important
⏱️ [01:00] – Meet Maria & Matt
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Their family’s journey: married 9 years, three kids, and an entrepreneurial spirit
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How flexibility in work became essential for parenting a child with complex medical needs
⏱️ [03:00] – The Start of Their Rare Disease Journey
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Pregnancy and early signs something was different with Natalie
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The challenges of getting doctors to take concerns seriously
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Being told “don’t worry” for a year—while their instincts said otherwise
⏱️ [09:00] – The Thanksgiving Hospital Crisis That Changed Everything
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Natalie’s sudden health decline and emergency hospitalization
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The shocking realization that hospitals don’t share medical records effectively
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How a simple website they built saved Natalie’s life by preventing a life-threatening medication error
⏱️ [13:00] – Turning Their Experience Into a Mission
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How their frustration with the system led them to found Take Part Foundation
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Why families need access to their child’s full medical history
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The power of self-advocacy in rare disease care
⏱️ [24:00] – What Is Pyroxd1? Understanding This Rare Condition
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A breakdown of what Pyroxd1 is and how it affects the body
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The difficulty of finding a diagnosis and why many families go undiagnosed
⏱️ [30:00] – The Reality of Rare Disease Research & “Death Valley” Funding
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The shocking truth: 95% of rare diseases have no FDA-approved treatment
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Why promising research often stalls due to lack of funding
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How Take Part Foundation provides grants to researchers in need
⏱️ [38:00] – How Take Part Helps Families Get Genetic Testing
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Many families can’t afford genetic testing—so Take Part is filling the gap
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The impact of a diagnosis on getting insurance coverage for therapies and equipment
⏱️ [44:00] – Strengthening Their Marriage Through the Rare Disease Journey
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The emotional toll of raising a medically complex child
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The mindset shift that saved their marriage: “If Natalie’s not offended, I don’t need to be offended.”
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The importance of seeing doctors as humans, too
⏱️ [50:00] – Let Your Fight Shine: A Message for Other Rare Parents
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Maria’s beautiful perspective on embracing the fight instead of hiding it
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Why advocacy is the most powerful tool rare disease parents have
⏱️ [52:00] – Where to Find Maria & Matt + How to Support Take Part Foundation
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How to get involved, donate, or apply for support
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Why storytelling is a crucial part of the rare disease journey
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Final words of encouragement for other families
Resources & Links
📌 Learn More About Pyroxd1 & Take Part Foundation: www.take-part.org
📥 Apply for Genetic Testing Support: Take Part Foundation Resources (Coming Soon!)
📲 Follow Take Part on Instagram: @TakePartFoundation
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🎙️Meet the host: Katie Taylor is the co-founder and CEO of Child Life On Call, a digital platform designed to provide parents, kids, and the care team with access to child life services tools and resources. She is a certified child life specialist with over 13 years of experience working in various pediatric healthcare settings. Katie is the author of the children's book, and has presented on the topics of child life and entrepreneurship, psychosocial care in the hospital, and supporting caregivers in the NICU setting both nationally and internationally. She is also the host of the Child Life On Call Podcast which features interviews with parents discussing their experiences throughout their child's medical journey. The podcast emphasizes the crucial role of child life services in enabling caregivers both at and beyond the bedside.
The Child Life On Call Podcast is for informational and educational purposes only. The content shared in each episode, including stories, discussions, and interviews, is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of something you heard on this podcast. The views and opinions expressed by guests on the Child Life On Call Podcast are their own and do not necessarily reflect those of Child Life On Call. Child Life On Call does not endorse any specific medical treatments, procedures, or opinions shared in the podcast. If you or your child are experiencing a medical emergency, call 911 or seek immediate medical attention. By listening to this podcast, you acknowledge that Child Life On Call and its affiliates are not responsible for any decisions made based on the information provided.