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. 

3 months old

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. 

our beautiful girl at 17 months

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.

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