By Charisma Freeman
Originally published May 13, 2019, in FOCUS + Fragile Kids ViewFinder Newsletter
KIF1A mom Charisma reflects on the turmoil she experienced after learning her 7-year-old son had been misdiagnosed with cerebral palsy, and how she found strength in her new family—the KIF1A community—to fight for a brighter future.
So, today is a good day! The birds are chirping, not too cold, no rain, and not a lot of thinking. I don’t know about you, but, for me, thinking can get me into sooooo much trouble. My thoughts tend to run away with me, like a child with a wild imagination.
But today I’m not doing that. I’m just being. I’m just here. Where’s my son, you ask? Well, of course, he’s not here or this day would go much different. He and his Nana went to Chuck E Cheese. She thought I needed a break. She was right.
You see, Cam was diagnosed last week with a rare genetic progressive neurological disorder called KIF1A. It’s characterized by spastic paraparesis (weakness or paralysis and spasms), optic nerve atrophy (which leads to blindness), seizures, neuropathy, and a bunch of other good stuff that can worsen over time. You can see why we’re not so happy around here right now, right? There are about 200 people in the entire WORLD with this disorder. Cam could be so lucky! Not only is it rare, but he’s the only one with his own personal mutation. They should call it KIF1A- “Cam the Man” mutation, lol!
So, until March everyone said he had cerebral palsy … except his neurologist, Dr. Barbara Weissman. She’s a doll, by the way! Ultimate girl power! Well, she was on a mission to solve Cam’s mystery diagnosis. Five years and three genetic tests later, she did it! So why am I not happier?
Well, for 7 years I’ve been told, “At least it’s not progressive” (doesn’t get worse). I’ve embraced March as cerebral palsy month, sold shirts, and raised awareness, but now he has a different diagnosis. It’s hard to raise awareness for a disease no one knows or cares about. Autism, breast cancer, these things affect more people. Rare genetic disorders … well, they’re rare for a reason. There’s no fancy ribbon, day, month or color. So I went from the big powerful, researched CEREBRAL PALSY to little ole KIF1A, a progressive disorder with nothing but doom and gloom to look forward to.
But something powerful happened. I found another family!!! A Facebook group of other KIF1A’ers, most wrongly diagnosed with CP as well. A group of parents and families fighting hard and raising money for a cure. A place we belong with our incorrect diagnosis of CP, spastic paraparesis, seizures, autism, and neuropathy that never fit nicely in a box.
We’ve found OUR box and in Charisma fashion, I’ve jumped in head first. Making preparations for the conference in August, scheduling appointments with 3+ more specialists, working on my new baby – a nonprofit for children with KIF1A and other rare disorders. Because when it’s all said and done, I will not be swept to the side or run over. We will fight! We’ve been fighters since Day 1 when the pediatrician told me, “He’s just slow, all boys are slow.” Or when the orthopedist told me he was fine at 12 months, or his dad told me I was TRYING to find something wrong with him prior to our divorce. You see, we fight!
We will fight the progression, seizures, chance of blindness, and whatever else this disorder throws at us. We are charting our own path. The heavens have given us a clean slate. We have KIF1A with the “Cam the Man” mutation and in my reality this mutation isn’t noticeably progressive as long as we keep working. And trust me, we will keep working!!! So next time you need a day, remember to make it a GOOD DAY!