We received Colbie’s diagnosis 3 years ago today. 3rd’s not a charm when it comes to finding a cure unfortunately, but at age 4 1/2 she sure is a charmer, still.

So here we are. 3 years of roller coaster emotions, approximately 500 doctor and/or therapy appointments, and endless questions that may never be answered.

Year 3 has brought with it some changes in focus for me. I had honestly hoped that by now we would have a treatment or a cure, but I realize that science doesn’t work that way. Especially not if your diagnosis is considered rare and doesn’t affect what the world sees as “enough people.” Sadly, it probably does, we just don’t know it yet. I still hope for the miracles, and we will participate in all we can, I just have to accept the reality that it may take more time and come around after some irreversible damage has been done. As a mom, this can leave me feeling helpless with an ever-present deep sinking feeling of dread in my chest, but it’s something I have to bury within me to stay strong for her and my family though. To not give up hope.

I have come to know RARE in this sense, doesn’t mean it rarely happens, but it is rarely known. As I said last year, I believe there are likely MANY out there with a KIf1A gene mutation that just haven’t received a diagnosis yet. Some misdiagnosed with things like Cerebral Palsy and some still seeking answers and waiting on endless tests because nobody told them about Whole Exome Sequencing first. But for now, Colbie is 1 in approximately 500 with a KAND diagnosis and still around 25 with her variant in the world I believe. Yes, about 200 have been added to this devastating club since 2020.

When I wrote our “two years since diagnosis” blog last year, two children younger than Colbie had passed away during that short time. At year 3 since we learned of KAND, a third has sadly joined them in heaven already. Precious baby boy, Lyon passed away recently and I’m so heartbroken for him and his family. It’s impossible to not feel angry too. Angry that there is no way (yet) to stop this from happening again.

Colbie’s dad and I were talking about how for Colbie’s specific variant, it’s basically just one classroom full of kids in the entire world, for perspective. And how little information you can really gain from that small number. We may see similarities in many ways, in how they move, their shared love of music, the contagious smiles and beautiful spirits, and in some movement, vision and other challenges, of course, but medically, the comparisons only get us so far. Why do some have abnormal eegs earlier than others, why do some never walk and some do, why do some lose their vision more quickly, or show progression at an earlier age than others? With just 25 known, some of us are trying to find some missing predictor of what to expect that just may not exist yet.

Because of this, one of the hardest parts about KAND (as I know I said before) is making medical decisions for your child because there is no book to go by specific to her diagnosis, just for some of the symptoms, but even when those symptoms are known and studied, how the treatment will affect other aspects of KAND is not always known. One choice may help one concern, but hurt another. For example, treating tightness in muscle tone, may cause more issues with the areas in her body with low tone.

This year, we saw so much amazing progress for Colbie, which I share often on her instagram, but we have already seen some signs of regression this time as well. I didn’t expect this to happen so soon. I hoped Colbie would be untouchable really. I didn’t truly believe this obviously, but I wanted to and now I can’t lie to myself.

Colbie will attend her 6th PT intensive this month. That’s two weeks of three hours a day of physical therapy…again. She is a pro at this by now. Her endurance impresses me more each time, but unfortunately as hard as she works, KAND continues to work against her. Colbie’s spasticity (or tightness) in her legs has increased. It has quickly increased over the past 7 months even in spite of night braces and hippotherapy on top of school and private PT too. So she will begin a new medication for that. We also received news that her EEG remains abnormal and possibly shows even more increased spike and wave activity during sleep and awake periods, but nearly continuous during sleep, so the medication she has been on for the past year isn’t enough and she will add another seizure prevention medication as well. This increased spike and wave activity could be hindering her learning and such as well. The plan was to start introducing these this past week, but she became sick again (the germs this fall have hit her hard) so we delayed this and will start soon. I pray the side effects don’t effect her much, or hinder her ability to get through her typical days filled with school and therapies. I hope that the good these medications can do greatly outweighs the risk. I never would’ve guessed we’d be making these decisions already and just have to believe we are making the best ones we can.

Sometimes I feel like for Colbie, I’m more than mom. I’m her voice when she can’t adequately express herself or know what to ask for, and an extension of her body in a way. She will quite literally pull up on me if I’m sitting on the floor, grab my neck and try to will me to stand and move to get her to where she wants to go if she isn’t in the mood to take off crawling. I have known it won’t always be so easy for me to be this for her as she grows and I realize I need to start preparing us both for this. I had an arm/neck injury for a while that really made this sink in even more and we are trying to use her walker and chair inside more, but the ability to control them around obstacles isn’t fully there yet.

For me, Colbie is a true extension of my heart. And anything that hurts her, breaks me.

In spite of everything, Colbie remains her happy, comedian, music loving, water crazy, outdoor exploring, determined, joyful self. She has her impatience, frustration, breakdowns and everything else and some of these can be incredibly trying, but they are impossible to get mad at, because it’s either understandable or clearly out of her control. She’ll quickly say “sorry” and sometimes with a smirk as she knows she’s winning us over with her sweetness even then. Colbie may always be the boss in this family, and we all know and love it.

We also know the best thing we can do really is continue to take it a day at a time. Well as much as you can while also coordinating doctor appointments a year out, but as far as it goes with the big, hard feelings, focusing on the moments we are in helps the most. And this girl reminds us of this always. If we aren’t paying attention to or playing with her she WILL let us know. She has brought more joy to our lives than I could ever put into words. Colbie is truly one of kind as a person, not just because of her diagnosis and I say it often, but I am so very lucky to call her mine.

I could go on and on about how KAND has changed our lives, affects Colbie, has changed me, changed relationships, etc. but finding time to even share this much was difficult to do so I’ll have to save it for a future post. I come up with new blog ideas in my head almost daily. I just rarely find the time to type them up. So I post shorter updates frequently on her Instagram, which is more of of a celebration of who Colbie is and the every day joys she brings us. She has started to enjoy watching herself in the videos and pictures too, so I try to focus on the positive. But, I try to keep it real there too.

Anyhow, if you’re still reading this random train of thought, thanks for taking the time. Thanks for any and all support, and thank you for caring for our Colbie.