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Raising awareness for rare diseases matters every day

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Friends, meet Alex & Emma.

For years, my husband and I fought for our girls, chasing down answers and all too often getting the runaround, a guilt trip, or a brush off because their symptoms simply didn’t fit into any known puzzle.

In 2009, after years of unexplained and misdiagnosed medical and developmental issues, we found an amazing doctor who was able to diagnose our girls. Alex was 6 and Emma was 4 when we learned that they had Pantothenate Kinase Associated Neurodegeneration.

PKAN is an autosomal recessive genetic disorder that affects an estimated 1-3 out of every one million children. It is progressive and it is fatal.

Emma died in 2012 when she was 7 years old. Alex died less than two years later, only days after her 11th birthday.

To this day, my husband and I have no evidence of anyone in our families ever having a child with PKAN. That means that for generations our families unknowingly passed down one wonky gene that did nothing. Then my one wonky gene met his one wonky gene and PKAN happened. While we didn’t even know those genes existed before we had children, we know now that we had a 25% chance of having a child with both genes that would have the disorder. We had two.

I don’t tell you about these things for sympathy. I tell you about my girls today because when we were walking through uncharted territory with our girls, we felt alone.

All too often, rare diseases mean years of struggling, suffering, and wondering if things will ever get better. When and if you’re lucky enough to find the right doctor and resources to be accurately diagnosed, you will likely continue to face hurdles in care. Where there are few resources and little understanding, there is slow progress towards effective treatment or cures. For those affected, it can feel isolating and hopeless, but for those unaffected, it’s too easy to have an out of sight out of mind attitude. We simply don’t know what we don’t know.

Rare Disease Day happens once a year, but it's always the right time to speak truthfully about your story. It’s not only an opportunity to remember our daughters, it is an opportunity to raise awareness among the public. When we share our experience, we get to encourage those facing their own rare disease. We stir up awareness for policy makers, researchers, and health care professionals. We put a face to otherwise wordy situations and it becomes personal. And friends, this is personal.

I will continue to share our story. I will continue to tell you of my beautiful daughters who were real, breathing, world-changing humans that died too soon. I will do this because I have hope that someday there will come a time when their rare disease has effective treatments and a cure. Someday there will be a mom whose experience will be different because we pushed forward.

My voice might only make a ripple, but together our voices can create waves of change.

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Mandy lives in Northwest Arkansas with her husband, youngest daughter, three crazy dogs, 10 backyard hens, and one rooster named Fluffy. She writes about living happily in the messy middle of life. To stay in the loop, follow Mandy McCarty Harris on Facebook and sign up for a monthly newsletter HERE.

Read more about Rare Disease Day HERE.

Learn more about Alex and Emma’s diagnosis HERE.

Donate to the NBIA foundation HERE to support families loving their children through PKAN.

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