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

Dear Diagnosis,

…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.

Sincerely,

Colbie’s mom (and so lucky to be!)

When Colbie was an infant all 6 of us would sing our own rendition of “My Bonnie Lies Over the Ocean” with Colbie’s name inserted.

“Bring back, bring back, oh bring back my Colbie to me, to me…”

It was simple and fun, but I can’t sing this song anymore without getting teary eyed. Who knew that it would come to mean so much more. We have not lost Colbie, of course. I thank God for that every day. But when I hear this song now, I imagine her at a distance, trying so hard to tell us more than she can. Trying to do more than she can, and I wonder if she feels this way ever. I imagine, she may when she is older and I pray this disease doesn’t have a chance to take anything more from her.

We recently participated in the Kif1a.org Family & Scientific Engagement Conference and it was amazing to connect with other parents face to face virtually, and hear from Dr. Chung herself and other researcher partners like Ovid Therapeutics, Rarebase, BioLoomics, and Murdoch Children’s Research Institute. Informative video updates available HERE. There is so much being done and that was such wonderful news to hear. But there is still so much to be done, so much unknown about KAND and the conference relit a sense of urgency in me. We truly are racing time. If a treatment/cure is found, it likely won’t undo damage done, but would prevent future atrophy or regression, so, obviously, the sooner we find it, the better for Colbie and the others diagnosed with KAND.

So now I wonder again, am I personally doing enough and hope to find the time to organize an event or fundraiser soon. I have questioned this a lot and learned that the other parents do too. Are we doing enough for our children’s healthcare, therapies, our families and other children, our marriages, the organization, our jobs, ourselves. I think the answer may always be no if I’m honest. But we are doing our best and doing all we can.

Be on the lookout for fundraiser planning soon or feel free to reach out if you’d like to be involved somehow! Probably after the kids are back in school though because the balancing act has hit a new level this summer!

The other day, another KIF1A mom and me texted back and forth about everything from the pathetic current condition of our hair to the fact that our children may never walk. These jumps in conversation are normal for us. For the past few months, we have shared so many concerns, reached out for random advice, figured out long application processes together, and more.

We also discussed how it sounds like we need to find millions of dollars somewhere to help accelerate research for a cure to ever be developed for our children. We barely can find time to get our hair done, and we are drowning in trying to keep up with our kids healthcare needs as well as the wellbeing of their siblings, but surely we can find a way to raise millions right?

The truth is, I am still learning how to be a true advocate, but I was never really that great at fundraising. I think we’ve still decided that we are going to figure this out. Our children are young and there are others like them, even as rare as this is, and those millions could literally buy them time and a better quality of life. They could help them live longer, see longer, walk longer and eliminate pain. If millions of dollars could be used for big fancy houses and other luxuries, isn’t this so much more worthwhile? Could we get a million people to donate $10?

My friend’s adorable son Bryce has the same variant as Colbie’s and they have already detected seizures in him. He could feed himself before and can’t now. He is 2 1/2 and army crawls and can’t sit up alone. He faced a set-back with a broken bone last year and we believe he will get there, but this disease makes it all so uncertain. So scary. We are constantly trying to find a balance between being vigilant and not worrying too much. We hear about other children losing their eyesight, losing feeling in their extremities (neuropathy) leading to injuries and the inability to walk, developing spastic paraplegia (muscle tightness that can’t be controlled with simple stretching, also stealing the ability to be mobile), and so much more. Many of us worry about what happens if our kids are lucky enough to even live to adulthood, who will be there for them if we can’t be? As an older mom with a toddler (that can’t toddle), I worry about this often.

Bryce’s mom and I like to say that Colbie and her son will get married one day. We talk about this in the way that only moms with rare children can appreciate. Jokingly, but with heavy hearts. Because we know that marriage is something we would love for our kids to have to look forward to, but know even this is not likely possible for them. HOWEVER, if it is and we will hold tight to that hope that it COULD be, our two blue eyed rare beauties sure would make a precious couple!

It is these friendships that get you through this. The new people that you connect with on-line or in your community that really help you adjust to the grief, the acceptance, and the hope. The highs and the lows. These are the friends that take you seriously when you talk about the need to raise millions. And the ones that genuinely care how tired and overwhelmed you are. Not by busyness, not by all that comes along with a diagnosis like KAND, but just emotionally tired. They say it’s like joining a club you never wanted to be a part of, but you just are now.

See- I am no good at advocating and that’s the whole reason I started this post. I get sidetracked, and go off on tangents. I have written several posts that I never shared for that same reason, but ya’ll- WE GET TO MEET BRYCE (and his parents) SOON! And another precious Georgia KIF1A child with the exact same variant that lives just an hour away.

Let me break this down:

*There are less than 300 known people identified with KAND worldwide

*With this specific KIF1A variant, I think there are maybe 13, making them each 1.69 in a BILLION (if that math is even close to correct, don’t judge, because again, I’m tired, but I know it’s something wild like that!)

*That makes the fact that these 3 kids within a few years apart in age and being 3 hours of driving distance with this variant that only 13 are known to have in the world really amazing!

But it also makes you wonder if there really are many more that just haven’t been identified because the odds of us being so close are crazy odds and the idea of KAND being more common than we know really isn’t that crazy. If you think about it, not everyone deep dives into their genetic make-up until necessary. They don’t see the need to maybe, or they are content with the clinical diagnoses that seem to explain the majority of their concerns even if the symptoms progress unexplainably. Or maybe they are older and just don’t see the point by then. I hope for others’ sake that KAND really isn’t common. I wish for our sake that we knew more about it. And that’s where research comes in.

The more we know, the more people we can help…the currently diagnosed and future KAND patients. Rare disease breakthroughs can often help other studies as well. This is why we fundraise.

It’s also why Bryce’s mom and I are constantly sharing notes, discussing disease management and any concerns we have in our children. It’s why we have a support board for advice in our community. The more we share, the more we can help and save others invaluable time. And the more likely we can save our children. So it’s onto raising millions, because that’s the only option we have.

Some days I feel sad. Really. really. sad. Sad that I can’t make everything better for Colbie. Sad that nobody can YET. Sad to keep hearing “we just don’t know much about this rare, awful disease.” Sad because of the unknown and the horrible possibilities that come along with this KIF1A (KAND) diagnosis and sad because I see this disorder robbing her of things already. Colbie is 19 1/2 months now and our girl wants to GO. She wants to explore like any other toddler. She wants to tell us more than she can and do more than she is able and some days, this struggle for her just breaks my heart.

On these days, when I am not as strong, when she trembles more than usual or is extra “bobbly,” when her teeth grind together audibly, when she reaches and misses, falls again, when we are heading to yet another doctors appointment, when she’s super tired from the extra efforts, when she gets frustrated or is feeling bad and can’t tell us why, when she is drenched in sweat in her sleep, or squeezing her thighs or pulling at her face with her hands in a way that should hurt, but she doesn’t seem to feel it, when she gags on the food she isn’t chewing correctly, or making sensory movements that lead us to wonder “could that be a seizure?”, or when her legs tighten and I fear it’s an early sign of spasticity, I worry. I don’t care about milestones, I just care about how she feels and may feel one day, both physically and emotionally.

Other days, I feel guilty for having felt sad because I look at her and see one of the most PERFECT babies God ever made. I know how much worse things could be too. I see her big smiles, feel her sweet hugs, and hear her say her version of yes (“ess”) and I can’t help but feel happy and think about how truly blessed we are to have this amazing girl in our lives. I am thankful that she is doing as well as she is. Some days, most even, I live in a place of faith and hope and believe that everything will be just fine for our girl. I pray hard for this every day.

I know these highs and lows may follow us always and I know this new norm of appointments 3-5 times a week is here to stay. I will take her to 100 a week if that’s what it takes to help her fight this, but I won’t lie, it is getting hard to keep up with it all and I hope that I am giving enough to the other kids still too. I’m so thankful for those who have given me understanding, the space to breathe, to cry and to work through these feelings without judgement or pressure. To let them in, but also kick them out (the feelings not the people, but maybe them too sometimes, ha.) I know excessive worrying can be bad, but I suppose SOME worry is also what helps us to catch things early too. I have to allow myself to admit that I haven’t figured out how to turn that off yet, and may never, but I do know that although I may breakdown crying and that sadness may wash over me from time to time, that I will still stay strong for her, for our family and I will never forget how amazing she is regardless of this diagnosis. It will never define her for me.

Other days, I feel guilty for having felt sad because I look at her and see one of the most PERFECT babies God ever made.

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Whenever the song “I Love Me” by Meghan Trainor comes on, Colbie will start “dancing.” The first time she did this I almost cried. It was a simple head shake that some would’ve taken as her saying no, but we all knew it was her attempt at shaking her hips the way we do for her as we hold her in standing position and she gets the biggest grin on her face. Gradually, we started practicing letting her lean on her mats and the distraction with the music kept her standing up with little support. She can’t stand unsupported still, but her effort to dance is hard not to love. Her love for music is undeniable and we may have to listen to many songs on repeat, but for the joy they bring her, that’s okay.

I forgot to share this video below here when we first posted it on instagram. When we decided to try to raise funding for KAND research (Kif1a.org) through the Super Hero Challenge that only had 9 days left, we were truly shocked to exceed our goal in such a short time and are forever grateful. The kids really got to see how they can have a part in making a difference in trying to help their sister too. I don’t think I could ever say thank you enough.

They worked hard to deliver their final performance as promised and all four participated in singing Colbie’s favorite song. I am so proud of them and hope you enjoy this too! Our hope is that Colbie will always feel this love and self confidence too.

Song: “I Love Me” By Meghan Trainor | Karaoke Performance by Colbie’s Siblings

When we told the kids we were expecting, the girls screamed and cried tears of joy.

When we told them the baby was a girl, they jumped up and down and shed more happy tears.

It was of course, much harder telling them their baby sister had KAND. There were tears then too.

But, I know how lucky Colbie is to have these two “little momma’s” in her life and I know they will always look out for their baby sister. They are both amazing and so natural with her and although she may not be able to do the things they imagined doing with her at this age, they adore her just as she is and I know will always stand by her side.

The “big” performance with all of Colbie’s siblings is coming soon, but before that happens, Ashlyn agreed to singing the song that she had written for Colbie if we reached $1500 for our KIF1A Super Hero Challenge for a Cure and that can be heard/viewed below. It’s not the best recording for sound, but I think it’s still pretty special.

Thank you again for all of the support! IF you missed out on the Super Hero Challenge and are wanting to help, you can still donate directly to kif1a.org or show off your love for Colbie and help raise awareness with an “I Care Colbie” T-Shirt now available (all profits go directly to KiF1a,org to support research for treatment and a cure)!

Anyone who knows Emerson knows what a loving heart he has, which makes him a very sweet and patient big brother who is always willing to help out. Colbie LOVES wrestling and playing with him so much and they really are adorable together! I often hear him making her giggle in the car and she lights up every time she sees him!

Emerson is a young artist with so much natural talent. He creates the most imaginative characters and more and will spend hours on end drawing, sometimes stating that he can’t wait to get home so he can have more drawing time. His dedication to his art is admirable, as is his dedication to his little sister. He did get teary eyed when we were talking about Colbie and KiF1A the other day because he wants us to find a cure and help her so much, as we all do.

We shared THIS article with the kids and it was very helpful in explaining how it’s okay for them to feel all sorts of different feelings about her KAND diagnosis and how it’s always important to talk about their feelings too.

Thank you again to all who donated towards the KIF1A research or even just shared our challenge with those you know. We can’t thank you enough for all of your support and if I haven’t thanked you personally yet, I hope you know how much we appreciate it!!

Emerson drew a “Super Hero Colbie” to give away if we reached $1000 for our KIF1A Super Hero Challenge for a Cure and since we are currently over $3,000 (!!) we present you with a word from our artist and the winner of the Super Hero Colbie framed artwork:

We often joke that Colbie likes her big brother Dominic more than any of us, but she has a way of making each of us feel special. Either way there is no doubt that he adores her just as much. The other day, Dominic said to me, “Mom, I didn’t cry when you first told us about Colbie’s disorder, because…How cool would it be even if she does have to be in a wheel chair or has other challenges, but does amazing stuff anyhow?!” I choked back some tears and told him that I too believe she will do some amazing stuff. He also told me that while he first cried when he found out she was going to be a girl, that if he had known how great she would be, he never would have and would even be open to another baby sister (not happening). He asks us daily how she can be so cute, always makes her laugh, and is excited to see her whenever he gets home. He is 10 years older than her and I worried that they wouldn’t have a special bond, but I couldn’t have been more wrong. I’m so proud of what a great big brother he is!

Thank you again to all who donated towards the KIF1A research. We are blown away and forever grateful for all of your support! Dominic agreed to creating a song on the piano for Colbie if we reached $500 for our KIF1A Super Hero Challenge for a Cure and we present you with “Colbie’s Lullaby”: