I often find myself initially stuck on where to start when telling our story. I say “our” because that’s the truth of this rare disease journey: everyone who touches Natalie’s life owns this story too.
After miscarrying our first child, Noel, I found myself pregnant again just a few months later. We named her Natalie—another version of Noel—and from early on, she made a name for herself as “Nat G.” At just 14 weeks into the pregnancy, I began hemorrhaging while visiting my cousin in Colorado. I was sure we were going to lose Natalie, too. But after urgent travel back to Atlanta, two weeks of bed rest, and a lot of prayer, we watched in awe as the placenta completely reattached. It was remarkable.
At 40+ weeks, we welcomed sweet Nat G into the world. Natalie entered the world a little blue, requiring an oxygen mask on her tiny face for just a quick moment, helping bring her APGAR score back up within minutes. Everything seemed normal at first, but as months passed, we began noticing differences, like her legs not tensing as she bounced on our laps. Our pediatrician told us she was just a “floppy baby.” But as time passed, it became apparent that something else was going on.
Physical therapy began, and so did our quest for answers. We moved back to my hometown of St. Louis to be near family. Natalie started a series of therapies (physical, speech, OT, swim, etc.) at Ranken Jordan, and we tried different mobility aids. While these efforts gave her some freedom of movement, we weren’t seeing a progression in her body’s ability to hold tension. And then, her health changed again. Her respiratory challenges became serious, and we spent multiple days and nights in the ICU. Machines like her BiPAP for sleeping and a g-tube became part of daily life, helping her breathe and eat safely.
It was during one of those ICU stays that we finally received a diagnosis. We were ushered into a cold, sterile room and told that there was no treatment, no cure, and that her life would be limited living with PYROXD-1. It felt like a gut punch in slow motion. But that diagnosis, as heartbreaking as it was, also brought clarity. Now there was a better understanding of what Natalie was experiencing. And that’s where Take Part began.
PYROXD1, a gene, encodes Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1 (PYROXD1), This an essential enzyme. This gene and its variants are still being studied, and it was only in 2016 that some variants in this gene were associated with myopathy- muscle weakness and later in 2019, shown as a cause of adult on-set limb-girdle muscular dystrophy. More recently, several case studies associate genetic variations with connective tissue disorders. This particular variation has a few additional clinical features including scoliosis, high arched palate, nasal speech, and joint hypermobility. Awareness of these clinical features may be helpful to facilitate the diagnosis and lead to the appropriate genetic testing.
Through Natalie’s story, Matt and I saw how many families were stuck in the same place that we had been: searching, advocating, waiting, often alone. We realized our pain wasn’t isolated. It was shared by millions of parents around the world facing rare diagnoses, or worse, no diagnosis at all. We founded Take Part in 2021 to fund research, support families, and ensure kids like Nat G receive the testing they need to find answers.
The more we shared Natalie’s journey, the more families we met with names, faces, and stories that mirrored our own. We connected to families right here in our St. Louis community that wanted to join us in our fight. Rare diseases are isolating, but they are also unifying. They create a community bonded by grit, grace, and a fierce love for our children.
Today, Natalie is thriving in third grade. She’s nearing her ninth birthday, surpassing the statistics that say so many children with rare diseases won’t live to see their fifth birthday. She is sweet, sassy, wildly funny, kind in a way that is so genuine, and rooted firmly in faith in a way that many don’t come to know until later in life. She is the heart behind everything we do at Take Part.
This story began with heartbreak, but it didn’t end there. In our pain, we found purpose. In our loneliness, we found a community. And in Natalie, we found the courage to believe that “rare” doesn’t mean alone.
If you’re a parent walking a similar road, know this: your story matters. You’re not invisible. You’re not forgotten. You are part of something powerful, and we’re honored to be part of it with you.
I’ve included a few links below if you’d like a closer look at what a “day in the life with PYROXD-1” looks like for our family, along with more about Natalie’s condition. If you have any questions or just want to connect, please reach out. I’m truly an open book and absolutely UNOFFENDABLE when it comes to sharing our story. So if I can offer love, encouragement, or wisdom in your journey, I’d love to be a vessel for that.
A day in our life w/ PYROXD-1: https://www.youtube.com/watch?v=75iTQNOTh-o
A little bit about WHY it’s important to fund rare research: https://www.youtube.com/watch?v=kzMfzuDH-Hw
Our foundation: www.Take-Part.org
Follow my mom journey on Instagram: @RiaRambles or email at [email protected]
Author Bio: My mission is to empower people to live full and powerful lives—whether that’s through nonprofit work or entrepreneurial ventures. As Executive Director of the Take Part Foundation, I advocate for families like mine by helping fund research for rare pediatric diseases around the world. I work closely with small research teams developing life-saving therapies, helping them get one step closer to the kind of funding they need from major pharmaceutical companies and research institutions.
I’m also the co-founder of Life Pulse, Inc., alongside my husband Matt Granados, where I help mission-driven organizations, teams, families, and individuals build more intentional and productive lives.
I live outside of St. Louis, Missouri, with my husband, our daughter Nat G, and our two sons.
