Mother of Little Girl with Cystinosis Describes Being a Rare Mom

When my daughter was born on August 8, 2012 I became a rare mom.

I wouldn’t know I was until 15 months later, but my little girl was born with a rare metabolic disease called cystinosis. Around 9 months she stopped eating and we struggled to get anything, even milk, into her. By the time she was a year old she’d stopped growing and we were sent to a pediatrician to investigate what he described as “failure to thrive.”

We were lucky. She was diagnosed within a month and a half, after a blood test and urine
sample confirmed that she was losing large amounts of protein and electrolytes, like sodium and potassium, in her urine. We were sent to see a team of nephrologists at our local children’s hospital and thankfully the doctors there had actually heard of cystinosis before. They sent us to an ophthalmologist to check for crystals forming on her corneas.

Checking her eyes seemed very strange to me at the time but that’s the way it is with cystinosis.

Every single cell in her body is affected by toxic amounts of the amino acid cystine, because it can not be properly transported out of her cells. The first organs to be affected are usually the kidneys and eyes, but as time progresses complications may be found in other organs throughout her body.

And so began my journey of parenting a child with a rare disease. To me being a rare mom means visits to the hospital every three months for blood work, a urinalysis and a check up. It means waking up every night at 1:30 am to give her, her medications. It means maintaining and administering seven different medications that she takes daily to keep her as healthy as possible.

It means late nights researching other treatments, results of clinical trials, worrying about her future and if we’re doing enough now. The hours are long, the sleep is terrible but the payoff is immeasurable.

Every single day I get to wake up and see my beautiful girl.

Elsie and her brother
Elsie and her brother [Imagery Provided by Amanda Buck]

Most mornings she’s up smiling and giggling before I’ve even had a chance to get out of bed. Mostly she can’t wait to see her brother and start our new day of adventures. She always chattering a mile a minute asking me to play games, help her get dressed and do all the things most other 3 ½-year-olds do.

If you’d asked me what I envisioned motherhood to be like back when I first started dreaming of starting a family, I would not have described anything like my life now. I never could have known just how much love my children would bring to our world. Sometimes when someone learns of our extra struggles they’ll say something like, “I don’t know how you do it.” But the thing is I don’t know how I could not do it.

My daughter’s life is more precious to me than my own.

Elsie playing in the wind
Elsie playing in the wind [Imagery Provided by Amanda Buck]
If that means never getting a full night’s sleep so that she can remain healthy, I will gladly pay that 10 times over. I would make the hour and a half round trip to the children’s hospital every day, if it means that I can continue to be her mother. There is no other feeling in the world than when she smiles, wraps her arms around me and tells me that she loves me.

Cystinosis is just a disease, it is not my daughter.

My daughter is a free spirit, a dancer, a joker, a princess, a painter, a daydreamer and a lover. She brings joy and wonder with her wherever she goes, sprinkling it like fairy dust across her path. Her father, brother and I are so fortunate to have this amazing girl in our lives and I will be forever grateful that she chose me to be her mother. I am a rare mom to a rare little girl, and I know just how lucky I am.

Amanda_HeadshotAbout the Author:

Amanda Buck is a mother to two beautiful children and began writing, after her daughter was diagnosed with the rare disease cystinosis. She started the blog Elsinosis: Living with Cystinosis to chronicle their story, advocate for her daughter and help other families in similar situations look for their silver linings. Her writing has appeared on The Mighty, Good Mother Project, Coffee + Crumbs, and she was a cast member of Vancouver’s inaugural Listen To Your Mother Show. You can follow her family’s story at www.elsinosis.com, on Facebook and on Instagram.


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