I am so blessed, but I also I believe it’s okay to say “it’s hard” and still be grateful and acknowledge that. I’ve learned a lot in less than a year since Colbie’s diagnosis. A lot about genetics, rare diseases, disabilities, therapies, neurology, insurance, etc. More than I ever thought I would need to.
Honestly, I’ve learned a lot about me too. My boundaries, how I process things, what I can and can’t handle, that I’m hardest on myself, and that I am still figuring so much out. Photography has always helped me focus on the good and gotten me through some other tough times, so even with my phone photos I tend to try to do this. It’s my personal “therapy,” but also the best way I know how to share our story. I’m working on writing more and on sharing the hard more, but that is scary too. I don’t want to come off complain-y, but I do want to be real, not just for me but for all the other rare disease moms trying to keep the balance.
But… S&$# has been hard. COLBIE is NOT hard. And I think I’m afraid to be completely transparent sometimes because I don’t ever want it to sound like she is a problem, because she is truly the BRIGHTEST light in my days.
Being enough IS hard. Doing enough is hard. Having older kids (who I also love with all my heart), who have their own needs, never ending activities, figuring out schedules, and balancing those with everything else is hard. Medical care, paperwork, therapies, research for how to get equipment needed, the 2-3 appointments needed just to get that process rolling, and fitting a job in there, is hard. Dealing with the pressure and even judgement from people who I hoped would understand more is hard, and having to say no a lot is SO hard. Partially because I wish I could do more and also because of the disappointment it causes others to have in me. But yes, it’s often a choice I have to make because we are just too busy, or I’m too tired and saying “no” sometimes is the only way I can keep up or get the mental rest I need.
I choose her over and over and what’s best for her and sometimes I just have nothing left. I know life is hard for everyone and I’m sure I have it better than many in ways, I just have to be honest that it’s not all cheering and clapping over here ALL the time…okay it actually kind of is with Colbie even on the hard days (told you I know I’m lucky). 😉 But the other reality is I am letting people down, including myself, left and right and I’m sorry.
In talking with other rare parents, I know this is normal to feel this way. Outside of the other challenges, I’m scared. I worry for her and feel all the feelings differently each day. My brain hurts, my hip hurts, my back hurts, I’m anemic, I have “almost 42 years old” health issues, and I am tired. I am not the best mom to my kids or best wife to my husband lately. We are adjusting to this new life path, but the hard doesn’t go away, I know this. It becomes part of us.
We are trying to fight/cure the currently incurable while keeping life moving forward as normal as possible. So, if I ever say no, or your rare disease/disability mom friend does. Please know it’s not about you, it’s not because of any reason other than I feel like I need to, for Colbie, for my other kids, our family, for me. Yes, you’ll see more pictures of me just snuggling her and playing. But I promise there is more to it all too. And those snuggles, while often keeping me from doing the other stuff, are something I will pretty much always choose first.
BUT don’t give up and don’t stop asking please. Before KIF1A I could’ve told you exactly what we were doing months away, now I don’t often know what tomorrow holds till I check my calendar because it’s become so much, so I’m often just as surprised when we can pull some last minute fun off too!
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.
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”:
How do you accept being told your child may not walk, and if they do, they may still lose that ability? That there is no way to stop what could happen to her? That she could experience optic nerve atrophy and potentially lose her vision. That spastic paraplegia, which could be painful, is a strong possibility and that no exercise, strength, or PT could prevent that from happening. That the atrophy in her cerebellum may not get much worse, but could, and her intellectual abilities may be affected as well. That seizures are common and further damaging to the brain and that swallowing issues and more could lead to respiratory distress. That there is even more, some things unknown, and that sometimes this can even be fatal. That the best thing you can do for her is try to keep her from injuring herself when falling.
How are you suppose to feel when a doctor tells you that YOU will be directing this, leading the charge, because even the medical professionals that you typically would turn to are not familiar with KAND because it is so rare that you will likely have to educate them about it.
How do you accept this when you look at her and see the most perfect, happy, loving baby girl that you would do literally anything for?
Most parents would throw themselves in front of a train to save their child if they had to. But what if you knew there was a train and you just couldn’t see it. You couldn’t stop it or push your child out of it’s way?
This is real. This is something my brain knows is real, but my heart refuses to accept. I will always have faith that Colbie will be able to overcome this even if it takes a miracle.
We know what lies ahead will take much more energy and patience than we had envisioned and that is okay. The extra support she will need is not a problem. Being with her and taking care of her brings us endless joy. Regardless of how challenging things may get, we will do anything we can for her.
What is NOT okay, is Colbie ever suffering in any way if there is anything we can possibly do about it. There may not be, but we won’t stop trying.
We had a hard, sleepless week last week and realized quickly that a simple cold with a mild fever will be much scarier now. That it will be difficult not to question every new concern as a potential symptom coming on. I am already beginning to get used to that pit in my stomach feeling not going away.
I don’t mean to sound hopeless. There are definitely moments when we break down, but we have so much hope still and she continues to inspire us too. We appreciate the outpouring of support we have received. I had no clue how many people would reach out with encouragement, offer great advice, donate, and more. That has meant so much to us, thank you. I want this to be an honest place though. I’ve experienced grief and I know this is similar, though also very different. I know it’s a process. This is hard and as much as it feels like it isn’t, as much as I don’t want it to be, this is real.
On a more positive note we have already raised almost $1000 for Kif1A research through this blog and through Facebook donations without much effort, thanks to so many of your generous hearts! I can’t wait to see what we can accomplish once we have our heads wrapped around everything a little more! These totals are not reflected here since we just set this donation page up, but we hope to be able to join in for the last two weeks of the Super Hero challenge and help the KiF1A.org team reach it’s goal of $50k by the end of October!
Practicing with her new bar that Daddy and Granpda made (plus a little rest break mid-crawl). :
Since sharing about Colbie’s KAND (KiF1A Neurological Related Disorders) diagnosis, there of course has been a lot of people asking about how we came to discover it. In addition to this, I am explaining to new doctors and researchers what the year leading up to this looked like. I have kept track in a spreadsheet, well, back-tracked once I realized the dates and concerns were beginning to add up and I would need to remember everything when we had new appointments. We have had over 50 appointments in the past year including PT & OT, etc. So, I went ahead and wrote this summary to share with those asking and figure it may as well be a blog post too.
*I do want to add that this isn’t really a list of all of her symptoms. This is the shortened version of our journey to the diagnosis, but there were more things that I call “Colbie-isms” that I will share in a post another time. Some things stand out more now too that I know what to look for, but it would take some time to get into all of that.
Our first concerns (some possibly not related to KiF1A) before realizing there was more going on were:
At 6 months-ish, I noticed her fontanelle (soft spot) seemed to be closing and we knew she had a smaller head size (5th-10th percentile). The neurosurgeon we saw said her head shape and everything seemed fine though and to just keep an eye on if it stops growing.
We noticed torticollis too, but she outgrew it by the time we got to the PT appointment last Fall.
I THINK we noticed that she didn’t have the best hand control and wasn’t pushing up with her arms extended much if on her stomach too after a while around this time, but weren’t overly worried yet because she had even rolled over early, both ways, and was such an easy happy baby doing well in all other areas.
At 8 months, she wouldn’t sit unsupported and would always fall backward. Always. She wasn’t moving much towards crawling either. I told myself not to compare her to others and to give her time, but I think we knew something was off and started to think it was maybe her vision. She didn’t seem to like looking to the right side and we THOUGHT we saw possible strabismus. It seemed like she saw us sometimes and not others and she would stare at other things when we were talking as if intently listening. In addition, her depth perception with reaching for things seemed off. However, she did make eye contact and is always interactive with us.
So, I reached out in December (8 months) to our optometrist friend and she saw us in February (10 months) and noted that Colbie was very farsighted, though that babies often are. We actually had glasses for a bit, but later removed them after we agreed they didn’t seem to help and having others confirm that she didn’t need them yet. The optometrist referred us to a pediatric ophthalmologist and neurologist because by the time we had this 1st appointment with her, Colbie’s eyes had started rolling steadily upward and she would “space out” at times too. The only thing that stood out to me, was that this also started around the time she had flu and hand foot mouth (it was a rough month), so I also wondered if this eye movement was temporary and if it was sickness related.
Our neurologist (March- 11 months) actually noted hypotonia and nystagmus possibly and agreed we needed to see an ophthalmologist, but because of Covid, even with 3 doctor referrals marked urgent we couldn’t get the Ophthalmologist appointment moved up from September. It was frustrating and hard to wait so long as you see your child is starting to not meet milestones and don’t know why.
We started PT & OT as well. And because I had shown the neurologist a video of her eye movements, to rule out seizures, we had an MRI in March (believed to be clear) and EEGs scheduled (also clear).
She began crawling at 13 months, but very unsteadily and even still will lose balance and fall over. Currently, she is still progressing and pulls to stand with holding on, or can lean and stand a bit, even tries to dance, but not fully cruising and still falls frequently. It is very balance related and of course we understand this even more now. Our PT also did note mixed tone because her thighs felt tighter at times.
Anyhow, going back to the journey, we ended up going to a different ophthalmologist in July (17 months) because we were anxious to truly rule out the seizures and get some answers before she fell even more behind on milestones. I wouldn’t normally blast a doctor, and I won’t name names, but honestly, he was awful. He was rushed and barely paid her any attention outside of her eye health. I felt like I had to talk as fast as possible to get my concerns out before he would leave the room. I showed him the video of our eye concerns and he said, she’s fine it’s likely just a tic. Both doctors confirmed her eyes were healthy, which was great, but that didn’t explain the balance issues or the eye movements and our neurologist agreed we should keep the original ophthalmologist appointment.
Meanwhile we did bloodwork and decided to pursue genetic testing too. We did cheek swabs for the genetic tests because poor Colbie has hard-to-find veins and the bloodwork experiences were difficult to say the least. Originally, we did the microarray test – negative. There were two other specific tests our neurologist had wanted to consider, but I read a lot about the WES test (Whole Exome Sequencing) on the hypotonia board and so many people were saying they didn’t get answers till they did WES. So, I pushed for that and he agreed.
While waiting on that, we finally got into see the neuro-pediatric ophthalmologist. He was wonderful and patient. He identified downbeat nystagmus and explained that her eyes rolling upward is part of the downbeat nystagmus, which is different and more rare than horizontal nystagmus. He thought since her MRI from March was clear, that it was likely hereditary and congenital and she’d outgrow it. BUT said because it can be caused by a part in the cerebellum he wanted to still double check her MRI. He had his neuro-radiologist review it and noted mildly atrophic cerebellum. This was shocking. We were hopeful that it was very mild since it had been overlooked before, but put in a rush for the WES results because there were 100s of things that could cause that and since the MRI was from March I was worried.
A week later (this week) we got the WES results about KiF1a. This was what we feared the most. Something rare, something progressive, something they had no cure or treatment for. The weight of this still hasn’t fully hit me. It does in moments, but I don’t know if I can ever truly digest this. I think most of us had been hopeful that Colbie did not having anything serious because she has progressed with her “inchstones” and is just so charming. She babbles a lot (no consistent talking other than a few words that come out at times) and is super loving and does seem to have good receptive language. She definitely lets us know what she needs in her way. Her fine motor skills are behind too though and as I look back, I imagine I’ll notice other things. Her determination is everything though and I refuse to accept that this diagnosis will stand in her way.
This is the summarized version, but now we know. And now we have so many more questions, more appointments, and a lot of extra prayers to say.