All About Kacie:
Have you ever felt that you’ve lived multiple lives within one lifetime? For example, the person you were while in high school is slightly different from who you were while in college, and even more changes happen when you “grow up” and begin your career, have children, buy a house, etc… These paradigm shifts in life seem to guide you in different directions and your motivation and focus in life shift and change.
I grew up in the small town of Sullivan, Missouri with my parents and younger sister until I set off for college in Springfield, Missouri. I knew I wanted to enter the healthcare field from a young age. I thoroughly enjoyed the “blood and guts” of my anatomy classes and my heart longed to help people in a meaningful way, thus entering into the field of radiography was a natural fit.
After graduating with my Bachelor of Science degree in radiography management, I began working as a radiographer and married my college sweetheart, Ken. As a radiographer, I had the opportunity to make patients laugh and smile on the good days and hold their hands and give them hugs on the bad days. I treated each of my patients as if they were family members and I realized I wanted to encourage others to do the same.
After working in a level one trauma center and then an outpatient imaging center for five years, I had the opportunity to teach in my alma mater radiography program and it was then I discovered I could instill my passion for patient care into each and every student who passed through our program. Nearly 10 years ago, I earned my Master’s of Science in Education degree and worked my way up to the rank of Assistant Professor and took over as the Program Director. I honestly expected to continue in that position until I retired, but we know that life had other plans for me.
In 2011, my dear boy, Lincoln, was born. He had a few health concerns as an infant that required him to undergo physical therapy, a sedated MRI, and meet with a neurologist, which eventually resulted in a diagnosis of Benign Paroxysmal Torticollis (BPT). BPT is a rare medical disorder that is thought to be caused by a mutated migraine gene and causes infants to have recurring episodes of head and trunk tilting for weeks at a time. Fighting for an explanation and diagnosis was when my “momma bear” instincts first developed. When Stella was born four years later, the spark to fight for my children accelerated into a raging fire.
Stella was born into the world most likely having seizures, but we thought her “jumpy leg” was just a cute way to enter the world and her extreme startle reflex and her quivering arms were only an underdeveloped nervous system. It was on a cold morning in December of 2015, six weeks after she was born, that Stella’s first apparent seizure reared its ugly head. From that moment forward, my life changed and I’ve never lived another day of my life not thinking about seizures.
If you know someone with a diagnosis of SCN8A, you know how the next few months went… EEGs, lumbar punctures, MRI scans, blood work, genetic testing, medications, hospitalizations, doctor appointments—the list goes on and on. I was exhausted and at my wits’ end when we received the results of her second round of genetic testing that pointed to a mutation in the SCN8A gene. At that point, Stella was five months old and was having more than five tonic-clonic seizures a day, each lasting five to twenty minutes long.
My momma heart NEEDED a diagnosis…I needed something to blame…I needed something to yell and scream at for taking away the life I thought I was going to live… the life I thought my baby girl was going to live.
The genetics counselor called me with the results of SCN8A. I hung up the phone and immediately began researching everything I could to find about SCN8A. My “momma bear” instincts ignited again, all my energy and focus was poured into fighting for Stella’s life. I wanted to learn everything about SCN8A—What drugs should we try next? What hospital/doctors were the best? What treatment options did we have? Who else is out there like Stella and can they help guide me?
It was in my research that I stumbled upon The Cute Syndrome Foundation (TCSF) and their family support group on Facebook. From my very first post in the support group, I knew I had hit the jackpot! The support and encouragement that parents provided even in their darkest hours was nothing short of incredible.
Nine months after Stella’s SCN8A diagnosis, I attended the 2017 TCSF Clinician, Researcher, and Family Gathering in Washington, DC. I walked into a room filled with people I had never met in person, but felt like I had known for years. The weekend was filled with education, empowerment, and emotions. I honestly didn't want to leave…I felt so connected with the other parents and children. It was then I realized I wasn’t the only one who was struggling in isolation at home, but if we banded together as a community, our voices could be heard.
Kacie’s Commitment to TCSF:
I attended and spoke at the Annual Gatherings in 2017, 2018, and 2019 before I became an official TCSF volunteer. As you can imagine, my life with two kids, one severely affected by SCN8A, and a demanding full time job, I didn’t have much free time, but I believed in TCSF so passionately that I wanted to carve out time to volunteer. In 2019, I volunteered my time at the Gathering and expressed my interest in helping the community on a more personal level.
I assisted in smaller projects until 2020 when TCSF received a Rising Tides grant from the Child Neurology Foundation that created opportunities for social and emotional programming. I had the idea of creating a TCSF Book Club in 2019, but now that we had the funds to support it, Hillary Savoie gave me the green light to run with my idea! Our book club continues to meet weekly over two years after its genesis.
Since 2020, I’ve hosted the Clinical Trial Readiness (CTR) series, virtual and hybrid TCSF Annual Gatherings, and the Meaningful Change Series. In late 2020, I joined the Executive Leadership Team. I witnessed firsthand the hard work and dedication that TCSF volunteers poured into this community, and my heart longed to help more.
One fateful day in December 2021, Hillary Savoie and I happened to fly into Chicago to attend the Annual Gathering on flights that happened to land ten minutes from each other and had baggage claims right next to each other, and so we decided to share an Uber ride to the convention center hotel. It’s funny how life works…I entered that car fully expecting to continue working as the radiography program director until my retirement, and exited that car dazed with excitement as I contemplated quitting my job and taking on the role of TCSF Executive Director.
Spoiler alert—I followed my heart and took the plunge!
End of an Era:
For months now, I’ve contemplated how to thank someone for building an empire that pulls parents out of deep despair and leads them to hope and inspiration. The time and energy I know it took Hillary to build TCSF from nothing into this powerful group of parents advocating for their children’s lives, while taking care of her medically fragile child, Esme, is almost unfathomable. Then, to thank them for entrusting you with one of their most prized life’s work—how does one do that with the proper level of gratitude?
I first want to thank the person who started it all, Esmé. Gosh, watching you grow into the beautiful, opinionated, intelligent, and creative young lady you’ve become over the past six years has been an absolute joy! You are and always will be “ The Original Cute”!
And lastly, thank you, Hillary. Thank you for your tireless work for this community over the past eight years. I know it has been nothing short of a miracle that you still have your sanity and energy to focus your efforts in your new career and to serve TCSF on the board of directors. You have been a shining light for so many members of our community, myself included, and we appreciate your endless work to advance SCN8A into a household name amongst the neurological medical community. You are, and will forever be, a total rockstar momma and advocate and it is an absolute honor to follow in your footsteps as The Cute Syndrome Foundation Executive Director.
Read Hillary's farewell letter here.