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
A NICU Dad Story: Life After a 25 Week Premature Birth
Inside the Children's Hospital
“I kept telling her, ‘We’ve got this.’ And inside, I had no clue what was coming next.” What does it look like to be “the strong one” when your world is falling apart? In this episode, Katie Taylor sits down with Jared Muscat—dad, surfer, and self-proclaimed “dad-vocate”—to share his family’s unexpected journey into the NICU after a high-risk pregnancy. From a routine 20-week appointment to welcoming his son Ollie at just 25 weeks, Jared opens up about fear, resilience, and what it means to show up as a partner and father in crisis. He shares the emotional weight of...
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Tay-Sachs Disease: A Father’s Story of Diagnosis, Parenting, and Purpose
Inside the Children's Hospital
In this episode of Inside the Children’s Hospital, Katie Taylor sits down with Dr. Matt Goldstein—physician, biotech leader, and father—who shares the story of his daughter, Havi, and her diagnosis with Tay-Sachs disease. Despite both parents undergoing genetic screening before starting their family, a testing error led to a missed diagnosis. Javi appeared to develop typically at first, but over time, subtle changes led to a life-altering realization: she had a rare, fatal neurodegenerative condition. As a physician, Matt was trained to solve problems. As a parent, he was driven to...
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Why Hospital Continuity and Staff Support Are Critical: Parents Speak Out
Inside the Children's Hospital
Supporting Families in Pediatric Healthcare: Insights from Parent Caregivers In this episode, we explore the experiences of parent caregivers navigating their child's complex health journeys, emphasizing the importance of advocacy, sharing stories, and hospital-family collaboration. Join us as these incredible parents discuss how they advocate for their children, the role of social media in building community, and what hospital leadership can do to improve family-centered care.Key topics covered: Why parents start sharing their child's medical journey online and the impact of community...
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Trisomy 13: Challenging the Narrative and Choosing Hope
Inside the Children's Hospital
What happens when a diagnosis labeled “lethal” doesn’t tell the full story? In this episode of Inside the Children’s Hospital, Katie Taylor sits down with Nicole, a mom of five, who shares her daughter Charlotte’s journey with Trisomy 13—a diagnosis often associated with limited survival and quality of life. After receiving devastating news over the phone while at work, Nicole and her husband were told their daughter likely wouldn’t survive. But instead of accepting that narrative, they sought out information, second opinions, and a care team willing to partner with them. From...
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NICU, Trach and Home Care: One Family's Journey to Stability
Inside the Children's Hospital
What does it look like when life changes in an instant—and a family learns to navigate the unimaginable? In this episode of Inside the Children’s Hospital, Katie Taylor sits down with Marah, a mom of four, who shares her daughter Abigail’s journey after a cardiac arrest at just nine days old. What began as a healthy twin pregnancy quickly shifted into a complex medical path involving a NICU stay, life support, and long-term care needs. As Marah and her husband entered the world of medical parenting, they faced fear, uncertainty, and overwhelming decisions. Through it all, they leaned on...
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Meningitis in Children: When a Mother's Instinct Led to Life-Saving Answers
Inside the Children's Hospital
What happens when your child seems sick, but everything keeps coming back normal? For a lot of parents, the scariest part isn’t the diagnosis. It’s the not knowing. It’s being told everything looks fine when your gut is telling you something is off. This week, Katie sits down with Kayleigh, a medical assistant and mom of three, to share the story of her daughter Kanessa. Almost a year after a freak eye injury that seemed to heal, Kanessa suddenly got sick. At first, it looked like a simple virus. But within days, things escalated fast. Kaylee shares what it was like trying to make sense...
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When a Parent Has Cancer: What Kids Understand Before We Say It
Inside the Children's Hospital
What happens when your child already senses something life-changing—before anyone has found the words to say it out loud? When serious illness enters a family, children often understand more than we realize. And for caregivers, the challenge becomes not only navigating medical decisions, but also finding the right way to support their children through it all. This week, Katie sits down with Anna Lonon, founder of to share her family’s story of navigating cancer when her husband Michael was diagnosed with stage three head and neck cancer at just 29 years old. While raising a young son and...
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Spinal Muscular Atrophy (SMA): A Parent’s Journey from First Signs to Diagnosis
Inside the Children's Hospital
What happens when your instincts tell you something is wrong—but you’re dismissed again and again? For many parents, the journey to a diagnosis begins with a gut feeling—and the courage to persist in seeking answers. This week, Katie sits down with Nikki McIntosh, author and advocate, to share the story of her son Miles, who was diagnosed with spinal muscular atrophy (SMA) at just 18 months old. After noticing delays in his ability to stand and bear weight, Nikki followed her instincts despite initial dismissal—ultimately leading to a life-changing diagnosis. Nikki shares what those...
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HIE at Birth: A Dad’s Story of Brain Injury, NICU Trauma, and Finding Purpose
Inside the Children's Hospital
Within minutes of arriving at the hospital, Brady and his wife were told their newborn daughter had suffered a severe brain injury. In this episode of Inside the Children's Hospital, Katie sits down with Brady Crandall, founder of Youth Crews, to share his family’s journey following a diagnosis of hypoxic ischemic encephalopathy (HIE). What began as a routine pregnancy quickly turned into an emergency delivery, NICU stay, and a new reality as parents of a medically complex child. Brady opens up about: The shock and uncertainty of those early days Navigating life as a “medical dad.” The...
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Preparing Your Child for Surgery: A Pediatric ENT Surgeon’s Honest Advice
Inside the Children's Hospital
How do you prepare a child for surgery and build trust with their medical team? This episode explores how families and healthcare providers can work together to support children through procedures like tonsillectomy and other medical challenges. This week’s guest, Dr. Tali Lando, shares her perspective as a pediatric ENT surgeon, author, and mom of three teenage daughters. She and Katie discuss what it’s really like for families navigating medical care with complex kids and how parents can advocate effectively while still building strong partnerships with their child’s care team. If...
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.