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A Day in the Life of Parenting a Child With a Rare Disease

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My world screeches to a halt as I read a grieving mother’s account of her daughter’s sudden death. I try to count the number of deaths I’ve read about since my son was diagnosed with the same condition, but I lose count and cry. And cry. And cry.
Rare disease is devastating. 

My twentieth rejection letter arrives from a business declining to participate in the silent auction I was planning for my son’s first birthday party. They explain their charitable funds are allocated for a more recognizable organization.
Rare disease is unfair. 

I listen to crackly, instrumental music on call waiting with the specialty pharmacy. My son’s nightly injection supplies were not delivered on time. Forty-five minutes pass as I am transferred from one department to another, pleading to speak with a manager, then starting over again when the call drops. I am finally told there’s a delay in the order. I call the doctor’s office and the insurance company pleading for help. I try the pharmacy again a few hours later to no avail.
Rare disease can be frustrating. 

I catch a glimpse of myself in the mirror – my unwashed bun falling out, spit up on my shoulder, my eyes dark and puffy after another late night reading and researching. I promise myself to go to bed earlier tonight, a promise I will likely break.
Rare disease can be exhausting. 

I hop into the clunky van we paid cash for after we traded in our shiny new SUV. I quit a job I loved at a place I loved so I could keep up with my son’s appointments and therapies. I now work part-time at a new place and starting over is hard.
Rare disease is often full of sacrifice.

Jealousy strikes as I stand in line at the grocery, peering into the cart ahead. Chicken nuggets, donuts, and boxes of macaroni are among the items – a far cry from the grain-free, sugar-free diet my son must follow.
Rare disease can be inconvenient. 

As I leave the store, I see how well a baby girl supports herself upright on her mother’s hip. Jealousy hits again. I feel ashamed of these feelings, and convince myself to be happy for other people’s healthy children.
Rare disease is unstable. 

I overhear parents chatter about the end of the soccer season and report cards and I wonder if my son will have the same opportunities as his peers.
Rare disease can feel lonely. 

I hear my husband’s sigh as he opens another medical bill, then adds it to the pile on his desk. We wonder how far into the two-year waiting period we are for our state’s Medicaid waiver. 
Rare disease is expensive. 

The memory of our first genetics appointment replays in my head…again. “He’ll probably walk, he’ll probably talk, but you should know that the most severe cases may not.”
Rare disease is uncertain.

And then I hear his giggle.

I see his smile.

I sit on the floor and he climbs into my lap. He looks up at me and reaches for my face, wet with tears.

The boy I was told may not show affection smiles right at me.

I look at him and I don’t see a rare disease.

I see my son – a happy, determined little boy. 

And I remember it’s all worth it.

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Originally published: November 2, 2016
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