Pause: Reflections from the Mother of a Daughter with KIF1A

This blog post was originally published on the KIF1A blog. We are republishing it here on Patient Worthy with permission.

I was recently asked if I was confident that a cure for KIF1A would be found – and the way in which I was asked was very nearly a rhetorical question; “And you believe that a cure will be found, yes?” My answer, though, was not automatic. An enthusiastic “YES! Of course!” did not spring to my lips. But how could it not? How, when my husband has made the fight for just that, his life’s mission, how could I not say yes? How, with active campaigns funding the search for that cure, campaigns for which we have gratefully asked and accepted the monetary help of our friends and family, how could I possibly pause? But pause I did, and when I was able to speak, my response was shocking even to myself. It was a no. No, I don’t believe in that cure. I don’t believe that one will come. But that admission – and I know it dismayed the questioner – is not one of defeat. I am not hopeless nor do I consider myself a pessimist. I am so very thankful for each of those donations, as I am understanding (or I hope to be) of every minute my husband is in communication with the clinical and research teams, and my goodness, YES, I know it all needs to happen.

But I couldn’t – can’t – say that I believe in a cure because to say that – to feel that – would mean that I would have to feel one was needed. I would have to say, and believe, that my sweet girl needed curing. And I don’t. I can’t. I look at her and I just see my girl, our beautiful daughter, our son’s silly sister, the extra-loving friend and devoted granddaughter. I see and feel every bit of her, and all that love, and all the attention that her body and being needs – it keeps me in the here and now. And what’s here and now is to me just perfect. I couldn’t imagine needing to cure this perfect girl of mine of a thing. Is that denial? Probably. Yes. I know we need a cure, I do. And I know that we must fight for it, that there is nothing more important. And I think we will find a cure, sure I do. If anyone can get us there, it’s our doctors, researchers and strong core of families that has banded together. So do I think we will? Yes, yes, yes. That’s all brain. But to believe? I can’t do that, because believing in something – that’s all heart. My heart tells me that I accept and adore my child as she is, and I can’t bear to believe that she will ever be anything less.

Can there be any teachable lesson in this admission? I’m not sure, except I will say that I don’t think denial (I’m definitely practiced in it) is always a bad thing. Maybe… allow your heart a little space from your head, and stop the inevitable downhill spiral from playing out in front of you like a bad movie you can’t stop watching. Turn it off, and be in the now. Love that child, every last bit of them, and immerse yourself in the world of toothbrushing battles and bedtime snuggles, whatever your now is and however much of it you can get. I can’t let myself stop.

About the Author: Sally is a cookbook author who lives in New York with her husband, Luke, and two children. Her daughter has a neurodegenerative genetic disease caused by a mutation in the KIF1A gene. She is working relentlessly to find treatment for her daughter and other undiagnosed kids with rare genetic disorders. Please visit to learn more about children living with variants in KIF1A.

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