Care for Colbie

This is Real.

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). :

How Did We Get Here?

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.

Colbie 2 Months (We had no idea at this stage)

*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.

taken today 10/9/20 with her sibling fan club – they motivate her so much and this is the longest she has stayed up like this!

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.

Colbie’s KiF1A Diagnosis

This post may be a mess. I may come back and rewrite it 100 times even after it is posted. I didn’t know if I should write it even. How to share “the news?” I process things by talking through them, and this, I kind of hate talking about right now, so writing seemed to be the solution. In addition to that, I typically cope by doing. When I stop doing, I start crying. I won’t accept any limitation until I know we have done what we can and part of that will be raising awareness and seeking answers. I’m not sure how ready we are for that, I know I’ll never be ready for an outpouring of sympathy because I see my strong girl the same as I always have- strong and amazing. I refuse to see her any other way, and want to focus on celebrating the wonderful little human that she is. But I am sad too. That isn’t what’s important though. Time is. I also just know that it’s easier to answer the same questions all in one place, so here is my attempt at starting this, trying to accept this…

We received the answer regarding the cause of our 17 1/2 month old Colbie’s motor delays, mildly atrophic cerebellum, and downbeat nystagmus on Monday, October 6, 2020. Since that call, I have been caught somewhere between a “ready to fight” & research overdrive to complete heartbreak. At times, just hating the world.

I explained it once as feeling like we were on an exhausting mission this past year to find an answer, but believing that the mission would quickly end. That the answer would be something simple, curable and minor, if even possible. But now we start a new mission. This one, life changing for us all. But the goal is the same- always make sure Colbie knows how much she is loved, and fight like hell to do whatever we can to help her in any way we can. One thing is for sure, Colbie has no shortage of cheerleaders in her life.

Colbie has a rare disease known as KAND, (KiF1A Associated Neurological Disorder). Those words are hard to type and even harder to say out loud.

The kids have asked if it is an actual “disease.” I guess so. I don’t like that word much either. We’ve settled for now on explaining it to them as a “rare gene thing” that is causing her motor disability and other symptoms.

Doctors don’t know how to fix this, yet. Most have never even heard of it. It varies greatly in individuals that have been identified from mild (possibly functioning ok with mobility and cognitively) to severe (possibly fatal). Colbie’s particular variation of this gene is identified as likely being moderate. What that means, is we won’t know what to expect. It’s possible she could continue to progress as she has been (pulling to stand and clapping and “dancing” while standing lightly supported) and walk even, but it’s very possible that over time she will develop spasticity in her lower limbs and require a wheel chair in the future. It could even result in optic nerve atrophy, affecting her vision, and it has already affected her cerebellum, though this was noted as subtle.

It’s impossible to know everything we want to know without more research because there are only under 200 people who have currently been identified with KAND , so there could be so many out there with even more varied symptoms and possibly more hopeful stories too. There could be some diagnosed with things like cerebral palsy, that never did genetic testing. This is my understanding anyhow, so bear with me because I am learning as we go and we are just 3 days in and still in shock really.

The summarized background story:

For the last year we questioned things we hoped were minor. We went from worrying about her vision to realizing it could be more than that and seeking opinions to rule out seizures and more. We knew she was struggling with balance and coordination and learned about hypotonia. But we still needed to find the cause of that too. Thankfully, although she is delayed in gross and fine motor skills, she is learning new skills every day still.

At times, I had even questioned myself and wondered if I was just over analyzing everything. If my mom-gut was off. If the MRI, eegs, orthopedic supports, and bloodwork was a silly thing to put her through for something she would just outgrow. Maybe she was just developmentally delayed, but would “catch up.” I’ve come to hate those two words for many reasons, but that may have a post of its own one day.

Deep inside though we knew there was possibly more going on even if we wanted to stay hopeful and only focus on how perfect she is to us. Something was “off.” And the doctors agreed, though nobody could say for sure what that was. Our PT described it as figuring out a puzzle and we just didn’t have all the pieces yet.

When we waited for results of tests for things we had never heard of we researched them and imagined Colbie having each one. During those waits we grieved for those parents and children we learned about and also prepared ourselves mentally, or tried. It was an emotional roller coaster. Colbie had everyone confused because she is so sweet and social, and so determined that I believe she is already overcoming more than we even know.

But then while waiting for what we hoped was her last test before we could allow ourselves to believe that we could just let things be, and maybe she’d be just fine, we learned that her eye issues were a result of a mildly atrophic cerebellum. I knew then that the “big gene test” aka WES (whole exome sequencing) test would likely tell us something more. We were stuck between wanting to know, hoping for an answer so we could help her, and also hoping it said absolutely nothing.

Even then, there was a chance the genetics test wouldn’t have identified anything. There was a chance that it would find something rare though too. Something incurable. Something hard to do much about other than manage. And that is the answer we feared most, but unfortunately got.

So that’s where we are now. This really is the shortened version and I will try to come back and share more sometime in hopes it can help another parent seeking answers for their concerns one day. The support group on Facebook for parents of children with hypotonia has been so helpful, and I think there is so much value in sharing information.

For now though, we are emotionally processing this and focusing on next steps. We have genetic counseling appointments, neurologist follow ups, continued pt/ot and more. We have already spoken with a representative for a KiF1A research study. Outside of getting Colbie every opportunity we can to help her stay strong and mobile, the only thing we can do is learn more. If you want to help- supporting this research is the only thing I know that can help right now. That and prayer. Otherwise, just be inclusive of differently-abled children and don’t make assumptions about anyone. There is a lot about Colbie that we are still learning because of her young age. But what we do know is she is the cutest, sweetest, most lovable baby with a great sense of humor that there is (not biased at all), but that too will be a post for another day. This is all I can get through for now. If you’re still reading, thank you for caring enough to do so.