Number 12 in the World!

Hi everyone! Sorry I haven't posted in a while my life has been a little crazy. But I'm so excited to be posting today!!!!!!!!!

So how do you start off a blog post saying you're now the 12th known case (in the whole world!) of a diagnosis so rare it doesn't really even have a name yet?! Well ... about three months ago I found out I'm the 12th known case of a rare congenital myopathy caused by a heterozygous mutation involving the CACN1AS gene (sounds like total gibberish right?! Like who makes up these words?) I have been undiagnosed and also misdiagnosed many times but for about the last 6 years my doctors have said I have a "working" diagnosis of Spinal Muscular Atrophy Type Two. All this time we were thinking it was a neuromuscular issue but turns out it is this crazy rare genetic thing. Doctors only just discovered it about 2 or 3 years ago which is why the bajillion tests they have done on me since I was born in 2008 didn't come up with anything cause it wasn't even a thing yet.

I like being number 12 because the number 12 means FAITH in the Bible. A lot has happened in my life that has required a lot of faith like having tons of surgeries and scary situations because of my medical conditions plus lots of other tough stuff that comes with being special needs. But God has also helped me grow in my faith over and over by doing amazing stuff in my life like me being able to eat solid foods now, saying my first word ever at 7 years old, and countless other things. My faith is really important to me A. cause I love Jesus! and B. cause I have no clue how anyone gets through hard stuff without Him so I think it is super cool that the number 12 stands for faith!

So what does this new diagnosis really mean for me? Well lots of stuff... first of all its finally the right diagnosis! I was so happy we finally got some actual answers I cried on the car ride home from the doctors appointment the day we found out! And even though this diagnosis doesn't really change anything for my care and day to day health stuff, the second big change it has made for me (and my family) is I live in Atlanta, Georgia now! When my doctor changed my diagnosis it made it so that I can't have the medicaid waiver in Florida that I had anymore. I had that waiver because of my other (totally wrong!) diagnosis and when we found the right one my Florida Medicaid shut off... really fast! We had only a TEN day notice before my services were cut off so my family prayed about it and quickly looked for other places to live where I could get medicaid (that also had good doctors and good churches and was somewhere we would want to live). We ended up moving to Atlanta in like 2 weeks! It was crazy fast!! And I just want to give a shout out to my parents for being amazing and packing and moving our whole lives so quickly so I could get the care I need! Life in Atlanta so far is really cool and I am excited to explore my big new city. Atlanta has amazing photo shoot spots so my blogging game will go up for sure! ;) Plus they have actual seasons here so hello fall & winter fashion! Give this Florida girl all the cute jackets and boots!! :) Atlanta, I think you and I are gonna get along REAL well!


XOXO,
Riley