Hi everyone! Welcome to my first blog post covering the many adventures of Parker and our family. Parker is a goofy, determined and sometimes shy four-year-old. His favorite things include baseball, anything with wheels, splashing in water, scrambled eggs, ceiling fans, and saying “no.”
One especially unique thing about Parker: he has an ultra-rare neurodegenerative genetic disease called KIF1A-Related Disorder (KIF1A for short). How rare is ultra-rare? As of July 2017, there are fewer than 50 children known from around the world to have KIF1A, although our numbers are growing as genetic testing becomes more accessible. KIF1A causes a wide spectrum of medical challenges with varying degrees of severity. Check out the About KIF1A page to learn more. Our primary medical concerns with Parker are his spastic paraplegia (stiffness in his legs that leave him unable to walk), hypotonia (especially poor core strength), lack of coordination/balance and speech delay.
After two years of searching for a diagnosis to explain Parker’s complex global development delay, we were given an answer in January 2017. Receiving a degenerative diagnosis with little treatment and no cure changes everything. While we do not know what’s in store for Parker’s future, the degenerative nature of Parker’s disorder threatens to take away any progress we’ve made with his development. Over the last few years Parker has lost some skills and abilities, but he has also gained others. He receives physical, occupational and speech therapy and we’ve recently tried some treatments to help with his spasticity.
I often tell family and friends that we are still trying to figure out how to adjust to this new life as a rare disease and special needs family. And it’s just dawned on me: I don’t know if we’ll ever have it figured out, especially with the changing nature of KIF1A.
With such an uncertain future, one thing that’s getting me through is clinging to hope rather than despair. Oh I have my moments, probably daily, when my mind goes to despair. Every time I see a toddler walking with his mom at the grocery store and I wonder, why can’t I have that? Every time Parker falls and hits his head and I was sitting right next to him but he still got hurt. But I try to remind myself daily that worrying and stressing and sulking about our challenges doesn’t help one bit. So I remind myself to choose hope.
One thing that fuels my hope is knowing that Dr. Wendy Chung of Columbia University and other researchers are working to understand KIF1A and discover treatment or maybe even a cure. You can read more about Dr. Chung’s work on the About KIF1A page and at kif1a.org. At the same time, I’m not just standing by, hoping that medical experts can solve all of Parker’s problems for us. I’m learning how to be an advocate for Parker and KIF1A. I’m pursuing fundraising efforts to support continued KIF1A research, whether that’s through crowdfunding or grant writing or fundraising events (if you have any event ideas or want to help, let me know!).