Pyroxd1 and the Path Forward: A Rare Disease, a Life-Saving Lesson & a Mission to Help Others- Maria + Matt's Story (246)
Inside the Children's Hospital
Release Date: 03/19/2025
Rare Lung Disease, Epilepsy and the Diagnostic Journey
Inside the Children's Hospital
When your child survives one medical emergency only to face another, parenting becomes a constant act of advocacy and courage. Today’s guest joins us to share her daughter's journey with rare and complex medical conditions, from early respiratory failure and unexplained hospitalizations to epilepsy, lung disease, and life with medical uncertainty. As a military spouse navigating deployments, Brittany shares what it means to walk this path largely alone, trust her instincts as a mother, and fight to be believed by medical professionals. This episode explores navigating rare disease without...
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Severe Hemophilia: A Newborn, A Brain Bleed, and PICU Experience
Inside the Children's Hospital
When your newborn is healthy one moment and rushed to the PICU the next, life can change in an instant. Today’s guest joins us to share her son’s journey with severe hemophilia—from unexpected bleeding after a routine circumcision to a spontaneous brain bleed, emergency surgery, and a months-long PICU stay. This episode explores being thrust into medical motherhood, learning to advocate under unimaginable stress, and how community, child life, and modern medicine help families navigate life with a complex diagnosis. Download our free to help empower your child and family during hospital...
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When Insurance Isn’t Enough: A Parent’s Type 1 Diabetes Story
Inside the Children's Hospital
When your child receives a new medical diagnosis, it can feel like the world shifts beneath your feet. Today’s guest joins Katie Taylor to share her daughter’s Type 1 Diabetes journey—from dismissing "textbook" symptoms to navigating the financial challenges of families when it comes to chronic illness. This episode explores how one Mom moved from denial to "work mode" and how the HealthWell Foundation helps families afford life-saving medications. Sponsored in part by —learn how you can help families afford life-saving medications at healthwellfoundation.org. Download our...
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New Diagnosis: What to Do When Your Child Gets Diagnosed
Inside the Children's Hospital
When your child receives a new medical diagnosis, it can feel like the world shifts beneath your feet. Here’s how to move forward with clarity, support and connection, hosted by Katie Taylor and the Inside the Children's Hospital podcast. Listen to more stories at insidethechildrenshospital.com. Medical information provided is not a substitute for professional advice—please consult your care team. Sponsored in part by HealthWell Foundation—learn how you can help families afford life-saving medications at healthwellfoundation.org. Keywords: children’s hospital, NICU, child life...
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Launching Inside the Children's Hospital: What Listeners Can Expect
Inside the Children's Hospital
Hear the story behind Child Life on Call's transformation into Inside the Children’s Hospital. Discover what’s next for families seeking support and real hospital stories. Listen to more stories at insidethechildrenshospital.com. Medical Legal Disclaimer: This podcast is for informational purposes only and does not constitute medical advice. Always consult your healthcare provider for guidance about your child’s health.
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3 Proven Strategies for Parents Navigating Pediatric Healthcare in 2025
Inside the Children's Hospital
Feeling alone after your child's diagnosis? Discover three powerful lessons that have changed how families find hope, support, and confidence while navigating pediatric healthcare. In this solo episode, child life specialist Katie Taylor distills eight years of conversations with hundreds of families into three essential takeaways every parent needs when thrust into the pediatric healthcare world. If you're overwhelmed by medical decisions, uncertain about switching providers, or searching for ways to support your child—and yourself—during hospital life, this episode offers tangible steps...
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A Father's Journey Through Loss, Healing, and the Birth of a Rainbow Baby: Jeff's Story
Inside the Children's Hospital
In this profoundly moving and honest conversation, we sit down with Jeff Loving, a NICU dad, husband, and now an author, who shares the intimate and often unspoken grief experienced by fathers after pregnancy loss. Jeff walks us through the heartbreaking loss of his two sons, Davian and Jadon, the struggle to find empathy and appropriate medical care, and how these experiences ultimately led him and his wife, Cassie, to become fierce advocates for their future family. This episode is a raw look at marriage under immense stress, the importance of empathetic medical staff, and the redemptive joy...
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Understanding Homocystinuria (HCU): How one Mother Uncovered her Son’s Diagnosis
Inside the Children's Hospital
Melanie, mom to 12-year-old Masen, shares the unexpected path to her son’s diagnosis with Homocystinuria (HCU) after a routine eye exam revealed something “off.” What followed was months of uncertainty, a rare diagnosis few providers had even heard of, a crash course in low-protein diets and metabolic formulas, and two back-to-back eye surgeries to prevent further damage. With gentleness, honesty, and deep advocacy, Melanie describes how they adjusted as a family, how Masen built resilience, and how finding community changed everything. A story of early detection, parent intuition, and...
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Autism, Advocacy and the Power of a Medical ID Bracelet
Inside the Children's Hospital
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
Inside the Children's Hospital
“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...
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
🎧 Listen to more episodes: Child Life On Call
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📩 Contact us: Lyndsey Fedorko
🎙️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.