While our Care For Colbie Instagram account has been a great way to share the day to day happenings and celebrate our girl, I haven’t been the best at the more in depth updates and over the past year, there have been a lot of happenings… some good, many bad. It’s wild to me how writing this out makes it all seem like so much when this is really just our daily life now and while it feels overwhelming at times, it is truly the new normal too. This is the stuff I think and talk about almost daily to doctors or therapists and reading it back, I can’t help but think “No wonder I can’t relate to people as well as I used to…” ha! That being said, all I share about COLBIE is honest and she is every bit as awesome as I tell you she is on IG. I just don’t like to stay in this reality of KIF1A headspace long, so it comes out when I need to make room for more big feelings, I suppose.

School Time:

Colbie started “Kindergarten” this week. She will be in a SPED class with 4 other children (though more will likely join) who have been there in previous years and attend from just 8a-11:45a to start. This may increase later in the year, but with her private therapies and doctor’s appointments, her days will be very busy regardless. She is at a different school with different teachers this year, but it’s very close by, which I’m thankful for. My main wish for her with school is to have a safe year and to enjoy it!

Health updates:

I don’t think I shared it here, but Colbie was diagnosed with CSWS (Continuous Spikes and Waves in Sleep) a rare form of epilepsy also known as DEE-SWAS or ESES. Of course being rare, like KAND, very little is known about how to treat it. In a nutshell, although she may not have active seizures that we know of on EEG (though does have staring spells that are suspected to be absence-like seizures), this abnormal activity during her sleep can still greatly affect her rest as it can keep her from reaching REM sleep, further delay her cognitive skills, and puts her at a greater risk of other types of seizures. It’s important to get these spikes and waves under control, so since last September she has had three overnight EEGs with another scheduled later this month. We introduced a new medication in October of 2023 and were hopeful after an EEG showed it was working, only to find she quickly became resistant to it by April. She is now on three medications for seizure prevention and to treat the CSWS, and an additional medication for spasticity in her legs. Had you asked me three years ago, I would have told you how anti-medication I am and that we wouldn’t be here, but this epilepsy diagnosis has changed how I see things and made the reality of KAND hit even harder. Anything we can do to help avoid further progression and to prevent possible seizures is very important.

Colbie had a rough year with strep, ear infections, respiratory viruses and UTIs. Because she often crawls at school, maintaining protection from germs can be tough and I imagine her immune system is affected by KAND too. We are hoping for less this year and that she’s building immunities as she’s been in school more.

Unfortunately, we are beginning to see signs of neuropathy from high pain tolerance to feeling pain in her fingers or toes when there is no clear cause. Increased tightness in her hips and thighs may lead to needing botox (injections in her muscles to relieve this) in the near future too, but we will know more when we see her physiatrist this Fall.

Sadly, she is showing signs of optic nerve atrophy, and her vision continues to be affected by both astigmatism and CVI (brain related- not eye health) so her ophthalmologist doesn’t really feel her glasses are doing much for her and we are just hoping she maintains what vision she does have. Some days she sees more than others, which is common with CVI as well. One day she saw my tan sweat pants and mistook them as our tan dog which is when I realized her vision has declined more than I even thought. It broke my heart.

Due to additional medical concerns, we have added ENT, urology, and nephrology to the team of doctors and she now sees 10 specialists unless I’m forgetting something, in addition to her regular pediatrician, urgent care, and therapists both during and after school. If we meet and I forget your name, this is why. She will have an ultrasound for her bladder and kidneys sometime in the near future, so send us all the prayers that they find nothing remarkable there please.

Rockstar

Colbie is amazing through it all. She has her moments of understandable impatience, but knows the drill, sadly, and always impresses with me with how tolerant she is of most appointments. Well… as long as she can sing LOUDLY and we have snacks, things are usually good by her. Also, as long as the doctors are talking to her and not me, things will go more smoothly too, ha ha.

Which leads me to sharing, if you don’t already know, that we launched I Did It! Kids together this past year too. We are always making up songs for fun and transitions and I noticed how underrepresented children with disabilities are in the kids’ music shows that Colbie loves, so it seemed like the natural thing to do. Colbie and I create the songs, but a talented singer/musician and animator help us bring them to life! We’ve received amazing feedback and have loved connecting with other parents and kids through it too. If you haven’t checked it out, please do! www.YouTube.com/IDidItKids

HOPE

The biggest news of the past year is news I’m still processing. I’ve shared with some, but guess it’s time to officially share that we learned just over a week ago that Colbie was accepted into the n-lorem program. Their mission is “to apply the efficiency, versatility and specificity of antisense technology to charitably provide experimental antisense oligonucleotide (ASO) medicines to treat patients with nano-rare diseases.” What does this mean for Colbie? Well, when we went to Boston this past June, we met with Dr. Chung, who you may be familiar with as she has spear-headed much of the existing KIF1A research including the KOALA study we have taken part in through KIF1A.org

When we met with her, we discussed having her nominate Colbie to this program to have an ASO treatment created for her. “Antisense oligonucleotides (ASOs) are incredibly versatile molecules that can be designed to specifically target and modify RNA transcripts to slow down or halt rare genetic disease progression.” (Communications Medicine)

Colbie was not eligible due to her genetic sequence differing for the existing ASO that was created for Susannah, another child with KIF1A, though hopefully some more children who are will be able to receive that treatment one day soon! They actually shared an official update on Susannah’s treatment and the positive outcomes of her treatment so far just yesterday!

(Getting to meet with the Boston Children’s KOALA Study team and also meet some other KIF1A families was amazing! Colbie and Janie still keep in touch too.)

Long story (and more science than I can explain well) short, it wasn’t an easy decision, and it’s one I wish we didn’t have to make at all. Colbie’s will be a different, new ASO. Essentially this will be experimental with risks involved and require frequent visits to Boston once created, as well as intrathecal injections every three months when that time comes. But we also know time is not on her side and this is an incredible opportunity we are extremely fortunate to have and so very grateful for. Hopefully additional children with KIF1A could one day benefit from this as well. I’ll be honest, this is another thing I wouldn’t have imagined doing even just a few years ago, but with already seeing her symptoms progress at such a young age, my feelings towards this have greatly evolved.

There is nothing certain here yet, as we will begin with tracking outcome measures daily for the next six months to have a baseline, and there are so many other steps they go through scientifically too and things could change, but it gives us great hope that we could possibly limit some of the regression caused by her KIF1A mutation. We do know vision is not one of those targeted at this time though.

Dr. Chung is a “clinical and molecular geneticist and physician, Chair of the Department of Pediatrics at Boston Children’s Hospital and faculty at Harvard Medical School” so I feel we truly could not be in better hands. I will share more as we know more. I do know it could take up to 2 years for development, though now with all the planning to do, 2 years feels like tomorrow too.

Please continue to pray for Colbie and our family as we face big decisions like these and the challenges they may bring to all we juggle already. Thankfully the big kids will be driving by then, and at ages where, if I have to travel a bit, will be okay, but like with everything else, KAND affects the whole family in one way or another. I’m so thankful for how supportive they are of her especially.

If you made it this far, thank you. I could go on, but I think that covers the biggest “stuff.” We will be sharing more about potential fundraisers hopefully for early next year and updating our t-shirts and more eventually too!

Oh yeah… and check out this recent Atlanta Parent article featuring Colbie and other rare disease families in Georgia too!

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.

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)!