The following blog post was written on October 4th, 2016 by a #raredad whose daughter is battling a chronic illness. With his permission, we are republishing this powerful memory here.
The vocabulary of a KIF1A mutation is very confusing. This variant has it’s own language, and it’s a foreign one. For instance, the word “progressive” is the opposite of a child making progress. KIF1A mutations carry with them a progressive course, wherein a child will most likely not make progress. When speaking KIF1A, a progressive course means regression and worsening.
This mutation’s progressive course leads to the most haunting word in any language: Degenerative.
One neuropathy associated with our specific KIF1A mutation is tremors. A small tremor in my child’s right hand reminded me to buy smaller tee shirts for our kids- and not just to make them easier to put on.
When shopping for clothes it has always been logical to “size up” so the Wonder Woman tee shirt will still fit in the spring. Occasionally this progressive method of shopping leads us down a regressive path and the superhero tee shirt is too big to wear on the first day of school. By March all those kale smoothies have paid off and she’s grown too tall for the shirt to fit at all. So, Wonder Woman’s armor sat in the closet for 6 months and emerged too tight… Man, if only I let her wear it on that first day of school. Big deal, it would have been a little too big. Even with a shirt touching her knees, she still would have been a super hero that day.** I shouldn’t have sized up that Wonder Woman shirt, it would have fit her perfectly on the day she really wanted to wear it.
Last baseball season I kept her off the field while I was coaching the older kids. She really wanted to play with her brother, but I decided it best to keep her on the bench with the babies because of her ataxia. The field was too uneven for her to walk on without falling and possibly getting hurt. She was happy though– she picked up a baseball and gripped it well. She threw it with strength against the backstop. I kissed her on the head, told her it was a great throw and that she’d step onto the field in September, the start of autumn baseball. By September she will have made progress and be able to handle the uneven field. She would grip the ball even tighter and throw it even harder. Just like that Wonder Woman shirt, baseball will fit her better in a few months.
Yesterday was the first game of autumn baseball. Of course she came right up to the backstop with her brother. When everybody walked away, I bent down and handed her a baseball. Her hand was tremoring and the ball fell to the ground. Regression. I shouldn’t have sized up that damn tee shirt, it would have fit her perfectly on the day she really wanted to wear it.
**She’s a superhero every single day.
About the Author: Luke lives in New York with his wife, Sally, and two children. His daughter has a neurodegenerative genetic disease caused by a mutation in the KIF1A gene. He is working relentlessly to find treatment for his daughter and other undiagnosed kids with rare genetic disorders. Please visit www.KIF1A.org to learn more about children living with variants in KIF1A.
