“When we found out we were expecting, my husband and I had a lot of fun sharing the news with our older kids by creating a scavenger hunt with puzzle pieces they had to put together to discover the message that spelled out: ‘We are having a baby!’ All four of them were thrilled, and the girls even cried tears of joy. Ironically, ‘putting together puzzle pieces’ would later be the analogy used by her physical therapist to describe what it was like trying to figure out the cause of the symptoms our baby girl Colbie was experiencing.
It turns out we were considered fortunate to have a diagnosis at 17 ½ months old, after just a year of seeking answers. It’s said rare disease diagnoses can take an average of 7 years. Colbie’s, a KIF1A gene mutation, known as KAND, is anything but fortunate, though. KAND stands for KIF1A Associated Neurological Disorder, aka a neurological degenerative disease. This genetic mutation varies in severity but causes symptoms such as loss of mobility, cerebellar and optic nerve atrophy, peripheral neuropathy, intellectual disabilities, seizures, hypotonia and hypertonia, developmental delay, spastic paraplegia, ataxia, verbal delays, and in some, leads to death. This disease has even been mistakenly diagnosed as clinical Rett Syndrome or Cerebral Palsy prior to genetic identification.
This is the kind of frightening information I read when we received the call on October 5, 2020, when I went into a state of shock and began searching Google right away. Thanks to KIF1A.org, there was some information and a place to start. Other than their thorough research though, there isn’t much else known about KAND. My heart was shattered, and I felt, and at times still feel, so helpless. It’s my job to protect her, and she may face even more difficulties I may not be able to prevent.
Colbie was born a healthy baby girl. She was such a sweet and easy baby, maybe too easy in hindsight. She had us all infatuated from day one. We now jokingly call her the ‘Boss Baby’ because each of us will do anything we can for her, and we’re pretty sure she knows it. She only has a few words but knows how to get her message across with a lot of charm and, at times, with a little feistiness.
Early on, Colbie was meeting milestones and seemed to be thriving, but when she was around 8 months old, we saw she was favoring her left side over turning her head to the right to look at us. It also seemed like she wasn’t tracking objects well, and she preferred to lie on her back to play, so we scheduled a local optometrist appointment. Meanwhile, she began to fall behind in skills like sitting up unassisted without falling or pushing to her arms. At 10 months old, by the time of the appointment, Colbie would randomly gaze off, and her eyes would roll upward steadily.
The optometrist recommended we see a pediatric ophthalmologist to confirm if the prescribed glasses we received were needed and also a neurologist to rule out the possibility of seizures due to the eye movements. Many people kept reassuring me she would ‘catch up in her own time,’ but my instinct told me something more was at play, and I HAD to find out so we could help our girl.
When Colbie was in daycare part-time, even with her new glasses, we saw she wasn’t keeping up with her peers. The other babies in her 6–12-month room were walking or crawling, some even approaching us and saying ‘hi.’ But whenever we came into the room to visit Colbie, she didn’t notice we were there until we were directly in front of her. She was often lying on her back or placed in an exersaucer to keep the other babies from crawling on top of her. My heart would sink each time. We couldn’t get an appointment with the ophthalmologist for another 7 months, even with 3 urgent referrals, thanks to COVID-19. We continued to hope she just had vision issues, and others seemed to agree, but we proceeded with trying to figure out what was holding her back. Our girl was so happy and healthy overall, it just didn’t add up.
We continued an exhausting search for answers. Under the care of the pediatric neurologist, we ruled out seizures with EEGs and brain abnormalities with an MRI (though this later was said to show subtle cerebellar atrophy), and we had her bloodwork checked. We learned Colbie has hypotonia and hypertonia, which affect her core stability, so she began attending physical therapy and occupational therapy regularly. Everything I read about hypotonia indicated it was a symptom, not a cause. Even the experts didn’t believe it was only muscle related. They saw the same motor planning, balance, and vision concerns we were seeing. ‘The puzzle’ was still missing pieces.
The weird thing that happens when you are seeking answers is that you reach a point where you just know something is wrong, regardless of what the tests are telling you. You want every test to be negative, of course, but then you also know a negative will mean more testing. Or that people may think you are putting your child through too much for nothing. Many people hinted at just waiting it out. But as a mom, you know there is something amiss, even if others tell you she’s fine. There are parents who go through this for years on end. You start to hope for a positive result and then feel horrible for thinking that way. But a positive would mean you know what is wrong and you can do something about it. Or so you hope. You never anticipate your child is literally one of the few hundred in the world affected by something so cruel.
If it weren’t for a Facebook hypotonia support group for parents, we would still be testing. But it is there I learned of Whole Exome Sequencing. We had begun exploring genetic testing at our neurologist’s recommendation. We did the microarray genetic test, which was clear. This was good but also led us to worry about what was next. How much more could we put our baby through? More genetic testing, more bloodwork, muscle biopsies?
Everything I read became scarier. We started learning about rare disorders like Angelman’s and Rett. We saw similarities in every description we found, but nothing matched perfectly our concerns for Colbie. We watched videos about a variety of rare syndromes, while crying for each of the families and their children. In hindsight, I think this time of not knowing and learning was God preparing us for what was to come. Our neurologist wanted to rule out these disorders as a precaution but stated that he usually is more certain, and with Colbie he just couldn’t say for sure, so we pushed for the WES test, which would refine a diagnosis. I told my husband I didn’t want the WES test to come back with a positive, but if it did, I just hoped it would tell us what we needed to do and not be a rare disease no one knows how to cure.
A rare disease is one considered to affect fewer than 200,000 people. Colbie’s disease, KAND, is known to affect less than 300. The key word here is KNOWN. There are likely others who are misdiagnosed or unaware of available genetic testing. Hopefully, insurance companies will one day offer this as a standard service covered because so much testing and discomfort could be avoided if we started here. More answers could be found, and time could be saved for those who need it most.
The local doctors and even the geneticist we spoke with after we received the WES results were honest with us and said, ‘You will now be Colbie’s medical experts.’ I didn’t want to hear this. I wanted to hear ‘this is the diagnosis, and here is how we can make it all go away.’ We have gone through waves of deep sadness and spent late nights trying to learn everything we can. I quickly realized the only way we can accomplish our goal is to fundraise for research KIF1A.org is conducting, and so we dove right in with our kids, who are eager to help, too. Fundraising gives us an outlet but also hope. The support we receive helps me to know we aren’t alone, and Colbie has a bigger army than even I realized.
Unfortunately, our efforts aren’t enough. Since our diagnosis just three months ago, we have already witnessed two beautiful babies in our KIF1A.org parent support group lose their KAND battles far too soon. There are many who face a more severe diagnosis than Colbie, whose is said to be moderate. These children are born needing feeding tubes, surgeries, oxygen, and extensive medical care from the very beginning. These precious babies and their parents are the true definition of determination. With each KIF1A.org loss, our entire community grieves. Our hearts ache for these families who love their little warriors so much, as we do our own. It reminds us to count our blessings but also to continue to fight harder to seek a cure so nobody else has to experience this pain and so our own KAND children don’t face a future where eventual pain and loss of abilities is beyond their control.
For Colbie and others like her, the future is unknown. But we know time is not on her side. Since receiving this diagnosis, I have let worry consume me, but now do my best to try to take it a day at a time and focus on how blessed we are. How amazing she is. Her life consists of multiple therapies, such as feeding, occupational, physical, play, speech, and aquatic. As a sensory seeker, she LOVES water, so we are excited about this last one, but she has to work so hard at just 21 months old to accomplish what comes easily for others her age.
Colbie still falls from a sitting position and while crawling at times, so she is monitored closely and often in a helmet. We now know her eye movements were due to downbeat nystagmus and still have vision concerns. She pulls to standing and is making awesome progress on her own timetable. We will provide whatever support is necessary and want her to experience as little frustration as possible, but most importantly, we will surround her with endless love and always celebrate who she is, regardless of what she can or can’t do. Our goofy, music- and outdoor-loving, happy, snuggly, charming ‘Boss Baby’ is a true warrior. She inspires us, and I will never stop cheering her on and advocating for her and other KIF1A and rare warriors like her.”
This story was submitted to Love What Matters by Lisa, Colbie’s mom and KIF1A advocate, of Georgia. You can follow their journey on Instagram and their website. Donate to KIF1A.ORG here. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
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