Maria & Natalie’s Story
I often find myself initially stuck on where to start when “telling our story”. I use “our story” purposefully, because on this rare disease journey that’s what I have come to learn most intimately…every single person who touches Natalie’s life owns this story too. I miscarried our first child who would have been due around Christmas time - Noel. When we got pregnant again, very quickly after the loss, and we found out we were pregnant with a girl I knew what her name would be - another version of Noel - Natalie. Before she ever made it out of the womb, Natalie made a name for herself as “Nat G” by all who would come to know her. It wasn’t long - 14 weeks into pregnancy to be exact - that God would begin to teach us about miracles through her life.
I was visiting my cousin Nina in Colorado and as soon as I got to her apartment, I began hemorrhaging pretty intensely. I was immediately in tears because in my mind I was certain I was miscarrying again. I called the emergency line at my OBGYN’s office and found myself back home in Atlanta the next day at her office to find out that my placenta was almost completely detached except for one small area. Fast forward two weeks into “home bound rest” and lots of prayer, everything was completely re-attached at the shock of my OBGYN and her team. Pretty cool. The rest of the pregnancy was literally a breeze (I can say that now in comparison to the next two after, ha!).
And then we found ourselves, 40+ weeks, in the delivery room welcoming sweet Nat G into the world as we know it. I hesitate to share how she “came out” because doctors still can’t say whether or not it’s tied to her “disease”, but it IS part of the story - so I share. Natalie entered the world a little blue, requiring a tiny little oxygen mask on her tiny little face for just a quick moment, helping bring her APGAR score back up within minutes. From that point, all seemed “normal”. We were released “on time” and her pediatrician appointments up to six months seemed to fall into the “well” category, as they say.
Over those first few months of life, Matt and I, as first time parents, didn’t really notice anything to be unusual. However, as both grandmas weighed in, we realized maybe there was something that wasn’t “tracking” on the usual path. She didn’t seem to be “tensing” up in her legs as we bounced her on our laps…and apparently that was something that we didn’t realize was a big deal. Our pediatrician reassured us time and time again that she was indeed just a “floppy” baby that would get on a “normal” path “soon”. Around 12 months old, he finally agreed that perhaps something was different. So, we received a script for physical therapy and began our journey of trying to “strengthen” her “weaknesses”.
In the meantime, I got pregnant again, with our now 4.5 year old son, Ziggy. And right after his birth, and nearly a year of PT into Nat’s journey, we decided to move back to my hometown of St. Louis, MO to be near family for this new adventure. At this point, Natalie was in AFO’s for her feet and ankles, regular PT appointments and chiropractic care. We got into a therapy series (PT, OT, swim, speech, etc.) at Ranken Jordan hospital in St. Louis where she could also experiment with a variety of mobility devices like walkers, standers, bikes, and more. And while they did give her a little freedom to feel “normal” movement, we weren’t seeing much “progress” in her body being able to hold tension.
At this point, our issues were strictly “mobile”. Nat couldn’t get around on her own, but she could eat “normally”, etc…or so we thought. It wouldn’t be long from this point until we would wind up in the ICU for the very first (of MANY times to come). We have since become frequent visitors due to her respiratory weaknesses and differences…and now enjoy the benefit of machines like a bipap for sleeping and a g-tube for feeding that help her thrive every single day and keep her airway out of trouble.
Around this time, we received our diagnosis one day when we were in the ICU. Our test results just happened to have come in as conclusive this time (it wasn’t our first try) and since we were in the hospital they met with us down the hallway to discuss. And since I’m an honest gal, let me tell you how it really feels like when you have several doctors sitting you down in a cold, sterile room to tell you that they learned what your daughter “has” and yes it will limit her ability to live, and no there’s nothing they can do about it right now. It feels like a slow motion gut punch…TKO...Mortal Kombat style. And yes, my daughter is actually fighting for her life down the hallway so excuse me docs but I’ll be right back. Writing this out to you now feels surreal…because I honestly didn’t think we’d make it this many more years. I’ve watched her life nearly end more times than I’d like to count.
We are now learning that although it felt like a long time for us, that receiving a diagnosis in the rare community by 3 years old is actually quite impressive. So cheers to St. Louis Children’s genetic team because they truly rock (this is also why we are passionate about helping fund their testing for families who can’t afford it through our foundation Take Part).
It’s kind of a blur from there to be honest. Before we knew it we had received her official “disabled” paperwork from the state which brought on an entire new level of services and insurance possibilities that we are extremely grateful for…and another reason we are passionate about helping families find a diagnosis.
And in the blur, school began. We were fortunate to be in an incredible school district with a paraprofessional matching that would stick with us for three school years. I could cry just typing that amazing blessing out in words. Nat G just graduated Kindergarten this past month and is thriving in her own ways thanks to the incredible community around her - from therapists and paras and doctors to friends, family, and other rare disease mamas out there.
Prior to pre-school starting for her at 4, we got the OKAY for a motorized wheelchair that would change her life forever. And man, who knew that this would be the thing that would break me the most as I type this out. Y’all I was HESITANT. Will this wheelchair stop her from developing in the way she should? Shouldn’t we keep trying? But I realized that my flesh was more concerned with what I thought was normal than what Nat G’s normal looked like for her. And now? As I laugh thinking of her poppin’ wheelies or raising up her wheelchair to steal a cookie off my counter, I am grateful that she has found the FREEDOM to move - and in that freedom to move, alsothe freedom to become the Nat G that has changed so many lives with her humor, smarts, and love.
There’s so much more to our story, but I have to stop here and let it all sink in again for me before I move on…so maybe we can meet again when I have a little more time to write part 2? What do you say?
I added a little bit more below about ways you can see a “day in the life with PYROXD-1” for our family and more about her condition below. Please don’t hesitate to reach out to me with any questions or comments, I am UNOFFENDABLE and an open book in 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 mom’s journey on instagram: @RiaRambles or email at Maria@Take-Part.org