KIF1A mom Jenni shares her insights after attending RARE on the Road, a Rare Disease Leadership Tour hosted by The EveryLife Foundation and Global Genes. At this workshop, Jenni connected with fellow rare disease advocates and found renewed hope for the future of the KIF1A community.
By Jenni Fautsko
Originally published July 8, 2019
Hello, I am Jenni Fautsko, mom to an awesome and amazing 9-year-old Turner. Turner loves country music (he is Luke Byran’s #1 fan) he loves his family, to play, to ride horses, camping and the Colorado outdoors. Turner is the most present full of God, light and love person I know. He is our greatest teacher to be happy with what is, to make the best out of every moment, to find the joy in the most simple things and to touch everyone you meet with love.
Turner lives with a rare genetic condition called KAND, KIF1A Associated Neurological Disorder. Turner is affected by KIF1A in about every aspect of his life: he uses a wheelchair for mobility, has a few words and lives with tight muscles that just get the wrong messages from his brain.
Turner doesn’t let his challenges get him down at all; this is the only life he has known. Our life is full of God, joy, light and love and also worry, fear, physical and mental challenges as his family. It is a life that so many cannot relate to, lifting and carrying our beautiful nine-year-old boy every single day, feeding him, bathing him, scheduling and going to uncountable doctor’s and therapy appointments is our way of life. It is the only life we have known too. Some days I feel the grief of the life I thought I would have and know I need to allow myself to feel this grief.
Most days I look at my angel Turner and feel so incredibly blessed that he picked us to be his parents that we are blessed by such an amazing gift and that those that cannot relate to our life also don’t get to be in the presence of such love and presence every day.
We were just in Denver for 10, yes 10 appointments, for Turner at Children’s hospital and the RARE on the Road Leadership Tour was in Denver at the same time, coincidentally on my birthday, (anything for our boy.) I know about the advocacy that I do for the Turner with so many aspects of his life and the advocacy work I do for the Arc Central Mountains as an advocate for individuals living with developmental and intellectual disabilities. I didn’t know that much about rare disease advocacy. I am pleased to say the day was wonderful! I met many parents and advocates alike who all share the same goals. It felt so good to be in a room full of people who know about what our life feels like.
RARE on the Road is a rare disease leadership series hosted by Global Genes and the EveryLife Foundation for Rare Diseases. Read more about the event here.
Lisa Schill spoke about what a big role her and her son Reed did legislatively in getting the 21st Century Cures Act passed and into law. This is a huge milestone for rare disease. This law will make the time a drug is available much shorter. Her talk made me realize that our votes matter and things can be changed by us. We just have to show up, speak up and can make a big difference.
These are the priorities for this law:
Rare Disease Community Priorities
–Improve biomarker qualification
–Improve FDA’s ability to recruit & retain staff & keep up on the latest science–Billions in NIH & hundreds of millions in FDA Funding–Expanding Hope Act (Priority Review Vouchers)
–Neurological Disease Surveillance
–Compassionate Use Reform & Enhancement Act
–Patient Focused Drug Development
This is just so inspiring to me and what progress! Mark Dant also spoke and brought the entire room to tears with his story of finding a cure for his son Ryan. When Mark and his wife were told that there was nothing they could do for their son and that he would die at a young age, Mark would not take that answer. He researched and researched and flew all over the county to meet the right people, raised a million dollars and found the right scientists to cure his son and so many others living with the missing enzyme that his son lived with. Their story is incredible and so full of hope and the strength of the human spirit. Mark gave me so much hope for KIF1A that a cure is possible! Learn more about his story here.
I am so happy I attended the Rare on the Road and had to opportunity to connect with many with the same goals and passions.
Jenni, thank you for sharing your heart, along with all of this information. This path that we are on carries so many blessings along with it. We beleive that we can make a difference, and Lord willing, find a cure.
Thank you Tony, I so appreciate your comments. There are blessings and miracles everywhere, sometimes we may have a look a little harder. I know we can make a difference with God’s help. One thing that I always need to come back to is that I don’t know Turner’s path, I feel like I am a facilitator in his purpose.
I’m reading this after the KAND conference in New York. It was in fact so heartwarming to see all the children together and meet families. “It felt so good to be in a room full of people who know about what our life feels like.” And most importantly to realize that “things can be changed by us. We just have to show up, speak up and can make a big difference.” YES. We can!