A Glimmer of Hope

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!