“We pray and hope for a cure for KIF1A and just know it is ‘when’ not ‘if.'”

I love country music, especially Luke Bryan, my mom and dad, camping, horse therapy, my friends, school, laughing and singing, adventures, cheetos and root beer. I am a child full of God. I teach to be present and grateful with what you have. My purpose is to bring joy to everyone I meet and to raise awareness for disabilities. I understand everything–just talk to me like everyone else. I am happy, I am amazing, I am cool, I am wonderfully made, I am my family’s world and so incredibly loved.

I have spastic paraplegia, dystonia, developmental delays, use a wheelchair and have a few words, all because I live with KIF1A. I work 5 times harder than you, doing everything that I can do. I have 5 therapies a week, I’ve had 7 surgeries, countless tests and procedures and take medications daily.

I am a super trooper rockstar. I visit Children’s Hospital in Denver every 3 months to keep up with my care. My amazing team of family, friends, doctors, therapists, teachers and my community is the very best!

A Message from Turner’s Family:

We had a normal pregnancy. Turner was born via C-section at 41 weeks. Everything seemed just perfect at my birth. At about 10 months old, the Dr. noticed some things about Turner that were different. This one appointment led to endless appointments, invasive testing, therapy, orthotics, wheelchairs, equipment, doctors, doctors, doctors, special education, so many things we didn’t expect our life would be.

Turner was diagnosed with cerebral palsy at about age 3. We waited for whole exome sequencing to be approved for 7 years. Turner finally got the KIF1A diagnosis in 2017. We were told there were about 36 other families with a child with KIF1A and really knew nothing about KIF1A. I instantly went  to research. I have become a professional researcher for all things Turner. I was so happy to find KIF1A.ORG right away and was so glad to know there were more families than the genetic counselor thought and that all the waiting and testing was worth it. We had an answer, we had something to go on.

Turner’s journey has changed us, changed us in so many beautiful ways. He is our greatest teacher to be happy with what you have and what you can do, to find joy everyday and to trust life. He is the happiest, sweetest, silly, beautiful boy. He could not be more loved. There have been many many heartaches with Turner’s journey as well. I was diagnosed with breast cancer February 11, 2011 at the same timing of many many tests and appointments for Turner. This was the hardest time we have ever gone through. I would have a surgery, then Turner had major hip surgery, then I would more surgeries and treatments then Turner had surgery to remove the hardware from his hip surgery. Turner got me through breast cancer. I had to be okay for him, I had to be able to care for him and be his advocate. I found so much joy in this little boy (he was a little boy at the time) that he gave me the strength to keep going.

He started hippotherapy (horse therapy) the same time I started chemo. It was therapy for me too. We feel like we are more equipped for the life we have now that Turner is 10. I can get triggered easily and the grief can bubble up at any time, sometimes school things will do that–just being hit with how different our life is and that’s okay. I think feeling the grief and trauma of it all is important to let it out. Then I turn back to God and Turner and find the joy, see his angelic face and know all is well. We pray and hope for a cure for KIF1A and just know it is “when” not “if.” KIF1A.ORG’s team is relentless and such a team, we are all in this together and will not stop until we help our kids. We are so very grateful for our KIF1A family and our Turner. He is our reason for living and would do anything for him, our amazing, resilient, smart, and loving son.

Jenni & Matt Fautsko

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