Wow, two years of (knowing about) KAND. Colbie is all of a sudden 3 1/2 years old. She isn’t one of the babies of the KIF1A group anymore. New little ones have been diagnosed at an even younger age than she was and older children and adults have received this difficult diagnosis since then too. Their parents have reached out to me for hope, answers, understanding, anything… the way I did to others two years ago and the way I still do with parents of children who are older than Colbie and have been walking this “journey in the dark” longer than us. They share their experiences, but we’ve learned that even within her variant these can vary so greatly, so we take what we can apply to Colbie and we move forward hoping we make the best decisions for her that we can too.
These parents, the new ones and the ones who have known about KIF1A longer, all are able to share one thing with us though, that nobody else can…a deep understanding that this is one of the most confusing, frustrating, and hardest disorders to watch your child fight against. That when you get that diagnosis, you don’t get straight answers. That while we make progress in research, there is not yet a cure, or treatment. There is STILL so much unknown. We watch and wait and pray and hope and try our best to shield our kids (and our families) from pain both physical and emotional. When new parents reach out, it’s hard telling them that I don’t know much more than they do really, I’ve just gotten more used to it. It’s hard asking them what variant their kid has because we know some are more severe than others and we don’t even know enough about our own.
This past year another beautiful baby girl joined our group and just as quickly lost her battle with KAND. Her mother and siblings faced a loss that nobody should ever have to and it brings me to tears every time I think about it. Since Colbie was diagnosed just two years ago, 2 children younger than her have died. 2 children too many. This breaks my heart and it scares me. It scares me for the children to come with similar variants and for their parents and families. It scares me for what is possible even for Colbie. And it angers me. I know we are so fortunate to have an organization working so hard to find treatment and a cure, but it makes me so mad that these kids have to suffer and these parents have to face this pain too. That there isn’t government funding available because there aren’t enough known diagnoses yet and may never be to “matter enough.” That we parents are still the “experts.” And we continue to have to ask people we know to donate money in hopes of a cure.
What we do know is that many have been misdiagnosed with Cerebral Palsy and later diagnosed with KAND through genetic testing due to symptoms worsening, unfortunately. There are approximately 400 in the world known to be diagnosed now and just 2 years ago when Colbie was diagnosed, that number was closer to 300. We know there are more out there who are probably wondering what is causing these horrible symptoms for their child, but can’t afford genetic testing because of insurance limitations or aren’t even aware of the ability to do Whole Exome Sequencing (aka the WES test) to receive these answers. So we keep doing what we can to raise awareness.
I share Colbie with the world on Instagram partially to celebrate her because she’s just too awesome to keep all to ourselves, to update family and friends and even more to raise awareness. And clearly I’m not so good with keeping up a blog more than once a year! I don’t post pictures and videos often of the harder moments out of respect for her, so I know it can sometimes come across like she is doing perfectly fine. And in a way, she really is. She is an incredibly strong little girl. She is speaking more, learning more, doing more physically, and charming the pants off of everyone she meets.
But the reality is, it is getting harder in ways too. She isn’t walking independently and she is growing heavier and I know my days of running into stores or even another room with her on my hips are limited. I am still hopeful she will walk independently, but we have to be prepared for her not to as well. Even with her walker, her fall risk is great. She still struggles with eating and has sensory issues with chewing and swallowing, so eats more like a 9 month old with small bites and mostly with her hands. We work on utensils and muscle control but this can be frustrating for her. Colbie still falls and bumps things and as she gets bigger, this gets harder literally and emotionally. She wants to do more and participate in more and is realizing her own limitations more than ever. She doesn’t give up though when she sets her mind to something and I admire her so much. She has sensory and coordination challenges, and her vision is still affected by CVI so some days she sees better than others, and some new environments can be very difficult for her to navigate and overall make everything harder for her. I feel more tightness in her legs lately and fear that she could experience spasticity soon, but we keep monitoring and doing what we can to deter this, though I don’t think that’s fully possible. Bath time and eating out and other situations have become more difficult, due to a mix of sensory and behavioral struggles. Overall Colbie is a happy and fun loving girl, but she faces these challenges too and it pains me to see her struggle.
The latest, scarier, news is her EEGs. In January and this past month Colbie’s EEGs showed increased abnormal activity, but seizures weren’t detected during the EEGs. The areas of her brain affected actually changed, but this latest one showed spikes in her occipital lobe and increased during sleep, so we are currently pursuing preventative seizure treatment. This means medicating, with other side effects and more unknowns. We have struggled greatly with this decision and received mixed advice, so again, the pressure to figure out what is best for our girl falls on us.
I want Colbie to be untouchable. I talk about KAND all the time, we go to endless therapies and appointments and see the impact of KAND every day, but there is still a small part of me that can’t accept it. I see what others have faced, and want to believe this won’t happen to my child. But the reality is…it IS happening to my child. And time is flying by way too fast. The sooner treatment is found, the more damage, atrophy, vision loss, pain, surgeries, and more we can prevent her from facing.
The last two years…weren’t just hard for Colbie or my husband and I. They have been an adjustment for our family. Our older kids have experienced the life changes due to KAND as well. We aren’t always able to do all the things we want with them, and even have to ask for their help at times too. I know they will learn so much about resilience, love, disabilities, and more from Colbie, but I also feel for their loss of the blessing of childhood ignorance some in this too. They love her so much and are amazing with her, but I know it can be hard as it takes a whole family effort in making sure she has eyes on her at all times. The stress and worry a diagnosis like this can cause is impossible to explain. Thankfully, we have a good support system and I know that we have something to be proud of, we have overcome obstacles together and we continue to face the challenges and not give up, together, as husband and wife, as a blended family, as KIF1A parents, and with 4 kids in middle school too. Life goes on in spite of the way KIF1A may change our futures.
We sometimes feel like there is a dark cloud above us just waiting to turn into a storm, but more times than not, we just try to be thankful for the shade and take it a day at a time. Two years since D-Day, we have a strong team of caregivers, therapists and teachers who love our girl. I work with amazing clients who understand my need for flexibility and embrace Colbie too. We’ve found a church that advocates for her inclusion. And we know who we can count on when needed. This is the biggest change. We aren’t frantically seeking help and this is HUGE and we are in a better place to face this with Colbie and be who she needs us to be for her and our family. We know that cloud will burst from time to time and it will happen more than once, and we will breakdown again and again too. But we stay hopeful.
On a more positive note, that hope has gotten stronger with the progress of research and we will be heading to NYC to participate in the KOALA Study THIS December! There are probably a few years to go before hope of clinical trials, but this study is bringing actual KAND patients like Colbie to Columbia University to gather more information about KAND and how it could possibly be treated one day. The donations many of you have made and continue to make are making a difference and providing these opportunities. They help fund the research and get families like ours to NYC to be able to participate. We can’t say thank you enough! I mean this too, it means more than I could possibly express.
So D-Day. I feel it today, I feel how fast that two years went by and how it also feels likes an eternity. I probably look like I aged 10 years because of it too, but I feel much of this every day. We are learning how to move forward and our main goal will always be to provide the best we can for Colbie and her siblings. As long as she is smiling and happy and enjoying her therapies we will keep getting her there and doing all we can to encourage her. But the real truth is, she motivates me. She is a funny, loving, driven, amazing girl and KAND has not changed that and never will.
Support KIF1A research at KIF1A.ORG