When Evie was 4 months old in Nov. 2020, she experienced her first seizure. We were all astonished. Daniel and I had never seen one in person, but we knew we needed to find help for her. This was the catalyst moment that sent us down the long slope of hospital living, specialists, testing and handfuls of appts. It’s changed everything in my life and what our family life looks like. I remember ‘the phone call’ from Evie’s Neuro Dr. I was in the hospital, just me and Evie, and I slumped in the corner of my hospital bench and sobbed as he explained what it meant for my daughter to have a chromosomal disorder. My Evie has what is called GRIN2A and she will be “special” for the rest of her mortal life.

Evies body structure is perfectly intact, but…. because of the important location in her brain where the GRIN2A protein was affected the synapses are not coordinated enough, leading her to be delayed in cognitive abilities. Things such as being able to control her movements, the inability to understand and form words, control her saliva, etc. This has also made her epileptic. She has Cortical Visual Impairment, which is a level of blindness in that she can see only in contrasts. Lights and darks. She has what is called Global Hypotonia, or extremely low muscle tone from her neck to her pelvis. This keeping her from being able to sit and hold her trunk, neck, and head in an upright position. This low muscle tone also penetrates deep into her organs not allowing her to swallow in a coordinated manner. To keep her thriving we’ve placed G-Tube port through her abdominal wall into her stomach so she can be pump fed a liquid diet. This low tone also keeps her internal organs moving at a much slower pace than yours or mine. Think breathing, GI track, etc. All systems we monitor and are mindful of. Evie is also sensory sensitive. The wind, loud high-pitched sounds, textures, etc.

For all of you that know my much-desired active lifestyle this was a shattering moment. Not MY daughter!? “She was meant to be my adventure buddy…” I kept thinking repeatedly. The pre anticipated moments I dreamt throughout my pregnancy continued to slip away with every side effect that presented itself. It was mental agony. I mourned my dream little girl.

Over the past couple years as Daniel and I have been learning and experiencing more about this disorder and how to navigate parenting and family life with as much “normalcy” as possible for our boys. The challenge has been real and overwhelming with much sacrifice, but the silver linings are apparent. Upon receiving Evie’s diagnosis her neurologist introduced me to the CureGRIN Foundation. This is a network of researchers that have committed to the advancements for children diagnosed with GRI disorders.

CureGRIN has been the greatest resource in learning about my Evie’s disorder. With this knowledge, plus the Lords help in navigating Childrens Hospital outpatient life, what was initially a revolution of discouraging moments is now gradually and gingerly turning my heart and mindset to progression and hope. It is no coincidence that we are here in Colorado Springs. The Lord has brought us to a place where our whole family can flourish, but I’m convinced He was being most mindful of His sweet Evie. I’ve come to understand and find gratitude in just how much is available for her. We truly are blessed to live in an age with so much medical and technological advancement.

Last holiday season we decided to invite our friends and family to get involved, learn more about Evie, and about the foundation that is researching to explore advanced therapies, medications, and future cures for kiddos diagnosed with GRI disorders. This year in the same spirit of support I would like to invite you again my ‘social media family’ to get involved!