…it’s been a year.
I’d love for this to be a parting letter, but unfortunately we are stuck with you. So, instead I’ll reflect on our year together as much as I can. And I say our, because you have affected all of us in some way.
I’ve felt this day approaching for a few weeks. It’s funny how memories can be like that. I remember this day last year like it was yesterday. I remember, before this, other difficult moments so clearly too. For example, when I got a call about Colbie’s subtle cerebellar atrophy. I don’t remember the exact date, but I do remember who I was with and the many emotions I felt, including shock. It was then that I knew you were coming next. I hoped you were treatable though, that you would give us more answers.
Instead, you were ultra rare. Only 300 in the world. With no cure or treatment.
I’ve talked a lot about acceptance this year, but after a year together, I think you should know, I don’t accept you. I mean sure, I acknowledge your existence, but I don’t accept that you will define my child and that we can’t overcome at least some of the obstacles that you throw our way.
I accept that we have to coexist. But Colbie is Colbie. She is not KAND.
You changed our lives on October 5, 2020. I was at her pt/ot appointment. Colbie was in therapy, but I knew I had to answer the phone when I saw who was calling. All I heard was KIF1A, something about some identified links to Rett Syndrome (this syndrome I was familiar with and they are not the same thing, but the kif1a gene has been discovered in some clinically diagnosed Rett patients and CP patients), that not much is known, etc. I processed nothing about you in that moment. Later in the day Byron and I would sit down and try to wrap our heads around you. Between tears and a lot of googling, we found that impossible to do. Honestly, I still can’t.
So, one year later, where do we stand? I still cry over you at times, maybe a little less often. You have made things harder, and I’d be lying if I didn’t say I resent you for that. (And the global pandemic throughout it all certainly didn’t help things.) For Colbie, it’s obvious how you have made her life more difficult. Her balance and coordination, frequent falls, speech and feeding delays and her dependence on us for help can be frustrating for her at times. The many appointments take away from her time to just play and be a kid. It’s hard for us too. It’s easy to sugar coat things, but we don’t even realize how hard sometimes until we are around other families and remember that not everyone has the constant hyper awareness turned on the way we do.
For me personally, the worry and constantly trying to stay two steps ahead of you has been difficult. Every time I think we are getting to a place where we have found a groove, you throw us a curve ball and a need for another specialist, new equipment and more answers to new concerns like CVI, dysautonomia, and other things we have to try to figure out and learn about. Living like this is not easy. You have made the ability for us to do fun things as a family much harder. You have made me extra tired, very sad at times, and you can be extremely isolating. My health took a backseat as did many things in our lives. My older kids have lost out some because of you too. In the past year, I know they have received less of my attention than they deserve, and I just pray that I can get better about this as we continue to become more familiar with you. Because of you, I’ve failed in a lot of ways this past year, but I’ve done my best and I have to believe you can’t take the best of me either. We’ve made a lot happen in spite of you too. As a family, we’ve gone on a few trips, some easier than others, planned a few fundraisers and kept on top of extracurricular activities, and our jobs, so I guess there’s a lot you couldn’t stop there. So, ha!
To be honest though, you’ve helped me to learn a lot about who Colbie is on a deeper level, even at just 2.5 years old. Since you showed up, she has adapted better than the rest of us to all that is required to live alongside you. She goes to 5-6 therapies a week. She completed a grueling 2 week PT intensive in April and an aquatic intensive January through March. Colbie attends endless specialist visits including but not limited to gastroenterologist, orthopedist, neurologist, ophthalmologist, communication specialist, endocrinologist (new one coming soon), cardiologist, mobility specialists, and regular pediatrician visits. She sees approximately 13 therapists or doctors more than once a year. And all of this on top of regular life stuff, 4 siblings’ activities and more. My two year old is stronger than you. And you may try to take things from her, but you won’t ever change that about her.
Colbie has charmed many of her doctors and therapists with her smiles and “I did its!” If we all could believe in ourselves the way she does, we’d be unstoppable too. It doesn’t matter what she does, she will make sure that we celebrate it even if she did nothing and she just needs some applause in that moment. I love this, among so many other things, about her. She is SO worthy of every bit of applause. And KIF1A diagnosis, you can’t take that either.
Diagnosis, you have changed our lives. Our hopes for what Colbie would have, what her future and ours would look like. What we envisioned may not ever be possible, but you didn’t change our love for her. That just grows stronger every day for me. We haven’t figured everything out, but we will keep learning as we go. And I’ve met some amazing people that have helped so much too.
In spite of you, Colbie is making progress. Her little body is fighting back. She inherited a strong & stubborn female gene that runs in our family and I believe this helps her to fight you too. 😉 She is creating her own ways of doing things and she keeps us smiling . She may struggle in some areas, but she still excels in others. I love telling doctors that she has gone #2 on the potty with no diaper accidents for two months now because it’s not what they expect to hear. I love showing the world that you, stupid diagnosis, can not predict what she will be capable of and that she is SO much more than what she can and can’t do too. I know there is a chance we may not be able to stop you from taking from her, but we will keep trying however we can.
Colbie’s mom (and so lucky to be!)