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.