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What It's Like Having a Child With a Rare Disease

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What does rare disease mean to you?

To me, rare disease means a mutated gene on my daughter’s chromosome 15. A gene that we all have but in her case, hers doesn’t work. It means very little answers followed by a whole lot of concern. It means a handful of wrong diagnosis until we found the main cause. It means speech therapy three times a week, it means chronic pain and delayed intellectual abilities. It’s fighting through life for things she needs at whatever the cost.

Rare means spending a lot more money on medical expenses than the average person. It’s about having a glimmer of hope that something might make a difference in your child’s life, because no one can say for sure either way.

Rare to me means spending a lot of time in the car driving miles to seek medical care, because not every city and state has a doctor that understands rare. Rare is a long list of symptoms that as a parent you wish you could just sum it all up with a proper diagnosis instead of a gene no one has heard about.

Rare is scary, it’s isolating. It’s getting up every day and wondering how will my child feel today. That magnitude of worry is consuming. With every breath I take I inhale and exhale her rare condition.

Rare is the dark circles under my eyes, it’s sleepless nights and the cause of my insomnia. Rare is the lack of funds in my bank account, it’s the silence in the air that at times I only hear. It’s the cause of my wrinkles and the reason for my constant state of brain fog.

Rare is what comes between my daughter and the world. Rare has flipped my world upside down and forever changed me. It keeps me on my toes, it keeps me searching for answers.

Rare finds a way to be acknowledged even during the happiest of moments. Rare will keep your eyes posted to every genetic study being done in hopes that maybe, just maybe, today might be the day that someone can help take away her pain.

Rare will put into perspective just how big this world really is and remind you that you really are one-of-a-kind. Rare is living with uncertainty, rare is trying to ignore that last scientific study that was done on your child’s mutated gene, the one that showed brain deterioration in mice. Rare is hope, it’s humbling, it will slow you in your tracks. It will change the way you look at the world and science and realize just how amazing it all is, but how far we still need to go. You will realize you knew nothing about the human body and what genes can do.

To me, rare is my beautiful daughter, it’s her sweet smile. It’s her determination to succeed. It’s her bravery, her generous personality. It’s her curiosity, it’s her contagious laugh, her big bright brown eyes which are the first things you see when she walks in a room.

Understanding my daughter’s rare condition is the hardest but best thing I’ve ever done.

Rare is everything that’s a struggle in my life, but at the same time it’s everything that’s wonderful in my world.

Rare Disease Day is February 28.

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Originally published: February 28, 2017
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