This post may be a mess. I may come back and rewrite it 100 times even after it is posted. I didn’t know if I should write it even. How to share “the news?” I process things by talking through them, and this, I kind of hate talking about right now, so writing seemed to be the solution. In addition to that, I typically cope by doing. When I stop doing, I start crying. I won’t accept any limitation until I know we have done what we can and part of that will be raising awareness and seeking answers. I’m not sure how ready we are for that, I know I’ll never be ready for an outpouring of sympathy because I see my strong girl the same as I always have- strong and amazing. I refuse to see her any other way, and want to focus on celebrating the wonderful little human that she is. But I am sad too. That isn’t what’s important though. Time is. I also just know that it’s easier to answer the same questions all in one place, so here is my attempt at starting this, trying to accept this…
We received the answer regarding the cause of our 17 1/2 month old Colbie’s motor delays, mildly atrophic cerebellum, and downbeat nystagmus on Monday, October 6, 2020. Since that call, I have been caught somewhere between a “ready to fight” & research overdrive to complete heartbreak. At times, just hating the world.
I explained it once as feeling like we were on an exhausting mission this past year to find an answer, but believing that the mission would quickly end. That the answer would be something simple, curable and minor, if even possible. But now we start a new mission. This one, life changing for us all. But the goal is the same- always make sure Colbie knows how much she is loved, and fight like hell to do whatever we can to help her in any way we can. One thing is for sure, Colbie has no shortage of cheerleaders in her life.
Colbie has a rare disease known as KAND, (KiF1A Associated Neurological Disorder). Those words are hard to type and even harder to say out loud.
The kids have asked if it is an actual “disease.” I guess so. I don’t like that word much either. We’ve settled for now on explaining it to them as a “rare gene thing” that is causing her motor disability and other symptoms.
Doctors don’t know how to fix this, yet. Most have never even heard of it. It varies greatly in individuals that have been identified from mild (possibly functioning ok with mobility and cognitively) to severe (possibly fatal). Colbie’s particular variation of this gene is identified as likely being moderate. What that means, is we won’t know what to expect. It’s possible she could continue to progress as she has been (pulling to stand and clapping and “dancing” while standing lightly supported) and walk even, but it’s very possible that over time she will develop spasticity in her lower limbs and require a wheel chair in the future. It could even result in optic nerve atrophy, affecting her vision, and it has already affected her cerebellum, though this was noted as subtle.
It’s impossible to know everything we want to know without more research because there are only under 200 people who have currently been identified with KAND , so there could be so many out there with even more varied symptoms and possibly more hopeful stories too. There could be some diagnosed with things like cerebral palsy, that never did genetic testing. This is my understanding anyhow, so bear with me because I am learning as we go and we are just 3 days in and still in shock really.
The summarized background story:
For the last year we questioned things we hoped were minor. We went from worrying about her vision to realizing it could be more than that and seeking opinions to rule out seizures and more. We knew she was struggling with balance and coordination and learned about hypotonia. But we still needed to find the cause of that too. Thankfully, although she is delayed in gross and fine motor skills, she is learning new skills every day still.
At times, I had even questioned myself and wondered if I was just over analyzing everything. If my mom-gut was off. If the MRI, eegs, orthopedic supports, and bloodwork was a silly thing to put her through for something she would just outgrow. Maybe she was just developmentally delayed, but would “catch up.” I’ve come to hate those two words for many reasons, but that may have a post of its own one day.
Deep inside though we knew there was possibly more going on even if we wanted to stay hopeful and only focus on how perfect she is to us. Something was “off.” And the doctors agreed, though nobody could say for sure what that was. Our PT described it as figuring out a puzzle and we just didn’t have all the pieces yet.
When we waited for results of tests for things we had never heard of we researched them and imagined Colbie having each one. During those waits we grieved for those parents and children we learned about and also prepared ourselves mentally, or tried. It was an emotional roller coaster. Colbie had everyone confused because she is so sweet and social, and so determined that I believe she is already overcoming more than we even know.
But then while waiting for what we hoped was her last test before we could allow ourselves to believe that we could just let things be, and maybe she’d be just fine, we learned that her eye issues were a result of a mildly atrophic cerebellum. I knew then that the “big gene test” aka WES (whole exome sequencing) test would likely tell us something more. We were stuck between wanting to know, hoping for an answer so we could help her, and also hoping it said absolutely nothing.
Even then, there was a chance the genetics test wouldn’t have identified anything. There was a chance that it would find something rare though too. Something incurable. Something hard to do much about other than manage. And that is the answer we feared most, but unfortunately got.
So that’s where we are now. This really is the shortened version and I will try to come back and share more sometime in hopes it can help another parent seeking answers for their concerns one day. The support group on Facebook for parents of children with hypotonia has been so helpful, and I think there is so much value in sharing information.
For now though, we are emotionally processing this and focusing on next steps. We have genetic counseling appointments, neurologist follow ups, continued pt/ot and more. We have already spoken with a representative for a KiF1A research study. Outside of getting Colbie every opportunity we can to help her stay strong and mobile, the only thing we can do is learn more. If you want to help- supporting this research is the only thing I know that can help right now. That and prayer. Otherwise, just be inclusive of differently-abled children and don’t make assumptions about anyone. There is a lot about Colbie that we are still learning because of her young age. But what we do know is she is the cutest, sweetest, most lovable baby with a great sense of humor that there is (not biased at all), but that too will be a post for another day. This is all I can get through for now. If you’re still reading, thank you for caring enough to do so.