"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

Welcome to today's episode featuring Maria & Matt Granados
Why raising awareness for Pyroxd1 is so important

⏱️ [01:00] – Meet Maria & Matt

Their family's journey: married 9 years, three kids, and an entrepreneurial spirit
How flexibility in work became essential for parenting a child with complex medical needs

⏱️ [03:00] – The Start of Their Rare Disease Journey

Pregnancy and early signs something was different with Natalie
The challenges of getting doctors to take concerns seriously
Being told "don't worry" for a year—while their instincts said otherwise

⏱️ [09:00] – The Thanksgiving Hospital Crisis That Changed Everything

Natalie's sudden health decline and emergency hospitalization
The shocking realization that hospitals don't share medical records effectively
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

How their frustration with the system led them to found Take Part Foundation
Why families need access to their child's full medical history
The power of self-advocacy in rare disease care

⏱️ [24:00] – What Is Pyroxd1? Understanding This Rare Condition

A breakdown of what Pyroxd1 is and how it affects the body
The difficulty of finding a diagnosis and why many families go undiagnosed

⏱️ [30:00] – The Reality of Rare Disease Research & "Death Valley" Funding

The shocking truth: 95% of rare diseases have no FDA-approved treatment
Why promising research often stalls due to lack of funding
How Take Part Foundation provides grants to researchers in need

⏱️ [38:00] – How Take Part Helps Families Get Genetic Testing

Many families can't afford genetic testing—so Take Part is filling the gap
The impact of a diagnosis on getting insurance coverage for therapies and equipment

⏱️ [44:00] – Strengthening Their Marriage Through the Rare Disease Journey

The emotional toll of raising a medically complex child
The mindset shift that saved their marriage: "If Natalie's not offended, I don't need to be offended."
The importance of seeing doctors as humans, too

⏱️ [50:00] – Let Your Fight Shine: A Message for Other Rare Parents

Maria's beautiful perspective on embracing the fight instead of hiding it
Why advocacy is the most powerful tool rare disease parents have

⏱️ [52:00] – Where to Find Maria & Matt + How to Support Take Part Foundation

How to get involved, donate, or apply for support
Why storytelling is a crucial part of the rare disease journey
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

Share Your Thoughts!

Did you find this week's episode helpful? We'd love to hear from you! Leave a comment below or tag us on social media.

🎙️ Subscribe & Review: If you enjoyed this episode, be sure to subscribe and leave a review—it helps more families find these helpful conversations!

🔗 Follow us on Instagram:@childlifeoncall

📩 Contact us: Lyndsey Fedorko

❤️ Ready to make hospital visits and medical journeys easier for your family? With SupportSpot, you get instant access to expert child life tips, emotional support, and resources right at your fingertips. For the next 7 days, try it FREE and discover how this app can reduce stress, ease your child's anxiety, and help you feel more prepared every step of the way. Subscribers have the opportunity to sign up for a free visit with a Child Life Specialist at CLOC to help you get the support you need from SupportSpot. Try it for free by clicking this link.

🎙️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.

Instagram.com/childlifeoncall

Facebook.com/childlifeoncall

linkedin.com/in/kfdonovan

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.

Rare Disease

1 Show in Rare Disease

Subtopics

Muscular Dystrophy

Sickle Cell Disease