Gia is a 1-year-old superhero, fighting KIF1A in Scottsdale, Arizona. Her family hopes to keep their little superhero comfortable and happy and they pray that her future is full of love.
A Message from Gia’s Family:
Gia Grace was born in February 2019 and we immediately knew something was not right with her. After several weeks in the NICU and a litany of tests over the next three months, we finally received results from the whole exome sequencing – Gia was diagnosed with one of the most severe gene mutations of KIF1A Associated Neurological Disorder (KAND) and our world was forever changed. Her outlook was grim and her first year has been a day-to-day struggle; however, her unrelenting strength and courage has taught us all so much.
Gia suffers from a multitude of health factors due to her KAND diagnosis. She endures multiple forms of seizures daily and will never be seizure-free. She is exclusively G-tube fed and her risk of aspiration is extremely high. In fact, aspiration is our single biggest daily fear pertaining to Gia’s health. She has severe central hypotonia and is not able to control her head movement whatsoever, which also is a main contributing factor to her risk of aspiration. Gia suffers from bilateral peripheral neuropathy and is unable to move her hands, tiny fingers, feet or toes. The severity of her condition impacts her vision as well; she has cortical vision impairment and is only able to make eye contact for brief seconds at a time and can only process images if an object is directly in front of her face.
Despite all of her ailments, Gia is a happy little girl; we occasionally catch her smiling a few times throughout the day. She loves body massages, being outside on breezy days, listening to music and most of all, cuddles from her big sister Juliana and big brother Joseph. Gia has taught our entire family the importance of life and love. She brings so much joy to our family and each day with her is a blessing that we never take for granted.
Based on similar genetic sequencing in other KAND children, we know Gia’s future is limited. We hope to keep our little superhero comfortable and happy and pray that her future is full of love and she is constantly surrounded by family. We want Gia to participate in research opportunities and any available form of treatment in hopes that the scientific community can learn from her condition and help future generations of KAND children. Gia’s strength and unwillingness to quit will no doubt forge the way for better treatments and hopefully a cure.
Gia passed away on Christmas Day, December 25 2020. Unfortunately, Gia’s variant of KIF1A was one of the most severe and consequently, she endured so much in her short life. Every day was a fight for her to just breathe and safely eat. Even though she struggled with the basics that so many of us take for granted, she was happy, and she was so loved. She made the ultimate sacrifice, and we hope that her life can be a catalyst to change others and most importantly play a role in discovering treatment. Hearing her big sister describe her as “her hero,” makes us realize what an impact she has had not only on our lives but everyone who knew her. We have endless love for Gia, and that love is what will continue to drive us to fight for a cure.
We love you Gia! ❤️❤️❤️