Why My Daughter With a Disability Can Experience Life 'Both Ways' Too


Yesterday I took my daughter to the doctor. She scribbled on the paper, walked down the hall, tracked the light with her eyes. It was a typical doctor’s visit. Except, for us this also included discussing how to combat her neurodegenerative genetic condition, (she receives biweekly spinal infusions under anesthesia to slow her disease progression), and whether to add in an off-label medication. The off-label medication wouldn’t definitively help, but it might. It can cause significant gastrointestinal side effects, especially without a careful diet of very little sugar. She is 2 years old.

Afterwards, I stopped at an Italian bakery on the way home where I went as a little girl with my mom. We ordered lots of goodies. She’s not taking it yet, right? She was trying to lick the cookies through the display case and tottering through the narrow aisles with glee. A very nice couple was smiling and laughing at her excitement. I blurted out, “We’re enjoying this since she might start a medication where she can’t digest sugar.” And the woman said in a nice way, “Are you sure she won’t grow out of it?” This was a normal response to what I had signaled with what I said. But, yes, I’m sure.

the author's daughter looking at cookies through the store window
This made me think — we have it both ways. We feel the isolation at times and the pangs of sadness over facing this enormous challenge with Niemann-Pick type C (NPC) disease. But people can’t tell, right now at least. NPC is neurodegenerative and causes progressive, debilitating disability in every way; it is better if people are able to receive an early diagnosis. NPC can feel like an anvil hanging over one’s head, attempting to to take their memory, their speech, and their movement. It can cause hallucinations, take their ability to eat an ice cream, to hold a hand, run through a park, sit up, smile at a joke, say hi, bye, I love you.

And we have it another way too. We can give the perception of a family without a care in the world. Our children can be two little adorable girls laughing and racing through a store or a park, holding hands, snuggling up. Sometimes I get a pause to think of the impression this gives to the people we pass by — who may be facing their own struggles and feeling overwhelmed and isolated. Something I’ve found to be true is all of us are facing challenges of different sorts, some more visual than others. And while I don’t particularly identify with people exclusively focused on some of the lighter things, I’m also aware that we can come across similarly to others who don’t know our story as well. To those people, I want to say, I am with you, too. We are facing our challenges, too. We are by your side in fighting to make the best of this challenge and hold on to hope, happiness, love, and community.

So, while we may not look like it – we’ve got it going on, too — in both ways: the many blessings that we are grateful for, and some pretty grave realities and possibilities we are carrying as well. For now, we’ll grab those cookies while we can, and send out a smoke signal to let you know you are not alone.

Follow this blog on Hope for Marian

Image Credits: Sara McGlocklin

Find this story helpful? Share it with someone you care about.


Related to Niemann-Pick Disease

Marian at Park

What the Word 'Fine' Hides When Your Child Has a Fatal Diagnosis

My 2-year-old daughter had an ultrasound. Sounds pretty painless, right? If I were to chat with someone casually and they asked what I did today, I’d say, “Marian had an ultrasound this morning,” and if asked how it went, I’d say, “fine.” But there are so many things those words envelop and hide, ready to be [...]

My Child Might Die: What to Say and Not to Say

My daughter might be dying. She has a fatal and progressive genetic condition. She is 1.5 years old. There is hope for her with experimental treatments helping to stall the progression, but still, it’s rough. Some of the most beautiful things I’ve seen in my life have happened since we’ve gotten the diagnosis. Acts of kindness [...]

When People Say My Son With Niemann-Pick 'Doesn't Look Sick'

Rebecca’s son. “He doesn’t look sick.” It drives me crazy when people tell me this. Recently someone asked me why he participated in Make-A-Wish when “he doesn’t look sick.” This is not the first time either. Please understand if I look at you strangely when you say he doesn’t look sick. There’s more underneath than you know. [...]

When Life With Chronic Pain Feels Like My World Has Stopped Turning

Being labeled as “disabled” really changed my world. It gave me a new perspective I never thought I would have at just 22 years old. I have never accepted my pain as my life. I still can’t, even almost eight years later. Putting into words how I am disabled because of chronic pain wrecks the most delicate part [...]