NEW updates, "diagnosis", and more for Natalie Granados
Meet Nat G – letting her fight shine through an ultra-rare form of muscular dystrophy!
Nat G was our first baby to make it into our arms and looking back on my pregnancy, there were signs pointing to her unique differences that I was unable to see – especially that her kicks were felt by me but no one else from the outside. When she was born our pediatrician kept telling us she was doing great, she just had “low tone”. She sat up at six months, but our parents noticed she didn’t have a lot of tension in her legs when you\’d bounce her on your lap with her feet. Things we as first time parents didn’t realize were different.
At about 12 months old, we began PT for our \”floppy baby\” and from there our realization of this being more than floppiness really escalated. Within a year we were able to identify through several layers of genetic testing her rare condition. Thankfully, we had just moved to St. Louis, MO and were instantly surrounded by one of the top pediatric neuro teams at St. Louis Children\’s, and our \”rare\” journey now felt official.
Natalie has always been the most goofy, chatty, self-aware, empathetic, kind and spiritually alive little child I have ever known (and yes I am biased :). She has a better vocabulary than her daddy but isn’t always super clear to understand due to constant mucus buildup that is tough for her muscles to clear. She tests intellectually several years above her age – and even though she has never moved on her own two feet, she has made footprints on this world with her boldness and resilience. She drives a power wheelchair called Joy who she will be rolling into Kindergarten with this fall! She loves Spiderman, Superbook, Peppa Pig, her brother Ziggy, PJ Masks, Paw Patrol, Sonic, Mario Brothers, baby dolls, makeup, nail polish, Superhero Kindergarten, Brandon Lake, Wes Tank, Mariah Carey, Hanson, Scooby Doo, Taylor Swift, poppin wheelies in her wheelchair and more…but nothing compares to her love for Jesus!
Natalie Granados 's Diagnosis:
Sounds strange…that is because it is. Nat G is one of the few people documented with this specific mutation. We sometimes talk about this as if it is a diagnosis but we have been told that is not necessarily the most correct explanation. This is not a diagnosis but rather an identified mutation that gives us a path to go down.
“A mutation in PYROXD1 is known to be a cause of autosomal recessive limb-girdle muscular dystrophy. The affected individual with a homozygous recessive PYROXD1 mutation showed progressive muscle weakness with an onset at the age of 9 years. Initial symptoms included excessive falling while running, with slowly progressive weakness. Difficulty navigating stairs by the age if 18, and loss of ambulation at the age of 37 years.”
