What if a simple miscommunication in the hospital could have cost your child their life?

For Maria and Matt Granados, that terrifying moment became a turning point—one that not only saved their daughter Natalie but also sparked a mission to help other families facing the unknowns of rare diseases.

In our latest podcast episode, Maria and Matt share their emotional journey of navigating Pyroxd1, a rare neuromuscular condition that affects their daughter’s ability to move, breathe, and fight off illness. Their story is one of resilience, innovation, and advocacy, proving that “rare is more common than you think.”
This article breaks down their journey, the obstacles they overcame, and how they are now funding critical research through their nonprofit, Take Part Foundation.

🎧 Listen to the full episode here.

The Beginning: A Medical Mystery No One Could Explain

When Maria and Matt welcomed their first child, Natalie, they had no idea they were about to embark on a rare disease journey.

From early on, something felt different:

• She wasn’t hitting major milestones.
• She had low muscle tone and struggled with movement.
• Doctors reassured them she’d “catch up”—but she didn’t.

For a full year, they were told “don’t worry”, but their parental instincts said otherwise. By the time she was two years old, an ordinary cold turned into a life-threatening hospitalization, and Maria and Matt realized that their daughter was far from typical.

“We had no diagnosis, no roadmap, no clear answers. We just knew something was seriously wrong.” — Maria Granados

A Thanksgiving Hospital Crisis That Changed Everything

On Thanksgiving morning in 2019, Natalie’s health took a dangerous turn. She had been sick for days, but something wasn’t right—her breathing was off, and she wasn’t recovering.

Maria and Matt rushed her to the hospital, where doctors immediately noticed her oxygen levels were dangerously low.

🚁 Within hours, she was airlifted to the Children’s Hospital of Philadelphia (CHOP).

That’s when Matt experienced a moment that still haunts him today.

The Mistake That Nearly Took Her Life

A doctor, scanning Natalie’s chart, looked at Matt and asked:

“What’s wrong with her?”

“I had no words. I had just stepped off a helicopter, my daughter was barely breathing, and this doctor wanted me to sum up her entire medical history in one sentence?” — Matt Granados

Overwhelmed, Matt handed the doctor a website they had created, which held every medical record, note, and test result from the past two years.

💡 That website saved Natalie’s life.

The doctor returned later, tears in his eyes, and admitted:

👉 “I was about to give your daughter a medication that would have put her into a coma—or worse. Because of your website, I realized she has an unknown neuromuscular condition and should never receive that drug.”

That moment changed everything.

The Birth of Take Part Foundation

As Maria and Matt processed what had happened, they kept asking the same question:

Why don’t hospitals communicate better? Why is it so hard for parents to access and share their child’s medical records?

They realized they had uncovered a huge gap in the rare disease world—one that went beyond just their family.

That’s when they launched the Take Part Foundation, a nonprofit dedicated to:
✅ Funding rare disease research that might otherwise be abandoned
✅ Providing free medical record storage for families navigating complex conditions
✅ Helping families afford genetic testing, which can unlock critical treatments

What Is Pyroxd1? Understanding This Rare Disease

Pyroxd1 is an ultra-rare neuromuscular disorder that affects the way the body’s cells function. Because it is so rare, there is no FDA-approved treatment, and very little research has been done.

Key challenges families with Pyroxd1 face:

• Delayed diagnoses due to lack of awareness
• Muscle weakness and breathing difficulties
• Frequent hospitalizations due to infections
• A lack of treatment options—most families are told to just “wait and see”

“We were essentially told that our daughter had to outlive science.” — Matt Granados

That answer wasn’t good enough.

Filling the Funding Gap in Rare Disease Research

Through the Take Part Foundation, Maria and Matt fund research that big pharmaceutical companies won’t touch.

🚨 The shocking truth?
👉 95% of rare diseases have no FDA-approved treatment
👉 Most rare disease research fails due to lack of funding
👉 A study may only be $20,000 away from a breakthrough—but never get the money it needs

“When we found out that $20,000 was the only thing standing in the way of continuing research on Pyroxd1, we knew we had to act.” — Maria Granados

Take Part Foundation provides grants to scientists, ensuring they can keep their research moving forward instead of dying in what’s called “Death Valley”—the funding gap between discovery and treatment.

💡 Because of Take Part, researchers are making progress on Pyroxd1.

Helping Families Get the Genetic Testing They Desperately Need

Genetic testing is one of the most powerful tools for rare disease families, but many insurance companies won’t cover it.

Through Take Part Foundation, Maria and Matt help families afford genetic testing, because they know firsthand how life-changing a diagnosis can be.

“Without a diagnosis, families are stuck in limbo. With a diagnosis, they can finally access resources, therapies, and even clinical trials.”

A Message to Other Rare Disease Parents: “Let Your Fight Shine”

One of Maria’s most powerful lessons is the idea that parents shouldn’t hide their struggles—they should let their fight shine.

💡 Her belief? Your hardest moments may be the ones that inspire others the most.

“Natalie can’t hide her fight—she rolls into a room in her bright pink wheelchair, and the world sees her strength. What if we all embraced our battles like that?” — Maria Granados

Their story is proof that even in the darkest moments, there is light.

How You Can Support Take Part Foundation
📌 Visit their website: www.take-part.org
📥 Donate to fund rare disease research: Take Part Foundation
📲 Follow them on Instagram: @TakePartFoundation
🎧 Listen to the Full Episode here.
👉 If you or someone you love is navigating a rare disease, know this: You are not alone.
💛 Rare is more common than you think. 💛