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Navigating a rare genetic disorder with a positive attitude

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from Carla Charter.

roam-1024x1024Seven years ago, when my youngest child was diagnosed with chromosome 12q duplication syndrome, I learned that I too had the syndrome. It's a rare condition caused by the abnormal duplication of the long arm of chromosome 12, leaving three copies rather two.

At that point the 12q was more of a footnote to my hectic life. Syndrome or not, life went on. There was work and the children and hundreds of other things to think about, none of which the 12q really affected.

The syndrome that hadn't affected my life too much reared its ugly head two years ago while I was driving home one night. In an instant, a highway exit disappeared from view and came back, giving me an extreme “What the heck was that?” moment. Little did I know that this episode was about to usher me into the world of visual impairments. I now have forearm crutches to help me walk. My visual distance impairment changes are frequent, and I have slight hearing loss.

Because I’m an advocate for people with disabilities, some praise me as inspirational. But I am not inspirational. I am human. There are days when I feel frustrated, overwhelmed with the changes in my life, and even a little cranky. It's OK to admit it, because I've got a family who loves me through all of it. If I seem a little quiet or snappy, you may be meeting me on an off day. We all have off days — disability or not.

Those of us with disabilities also have our own way of coping with them. For me, it's humor. It's the reason I had a bright pink cane for a time. If I was going to have to deal with using a cane because of the 12q, I was going to find the brightest prettiest cane I could find and rock the heck out of the 12q.

To help cope with my disability, I laugh at my unique perspective. I laugh at life itself. Like the night I mistook the pizza delivery car for a taxicab. (In my defense, they did both have lights on the roof.) Or the night my daughter called and I mistook the word sausage for prostitute. I still haven't lived that one down.

There's another way that I've learned to deal with my disability, and that is to get out in the world and deal with it. That means I travel, often by myself. If I come up against a roadblock, then I figure my way around it right then and there. As a result I've learned to use my adaptive equipment to help me ride escalators, and to use curb cuts on days when I'm having trouble judging the edges of things.

These days I impress myself with what I can do with technology. I've learned to use a Nook and close caption the television. I have an alarm on my tea mug to let me know when it's full and have even applied for a close captioned phone - who knew they even existed! I thumb through catalogs and have even attended an abilities expo recently in search of more equipment to help me remain independent.

I am not my disability. I am more than my cane, my crutches, my visual impairment and my hearing loss. Before all of that I was just like you. I was active and I worked, took care of my kids, laughed, hung out with my friends. None of that has changed.

For those who meet me: Get to know me as a person. Ask me about my latest novel and I'll tell you. Ask me about my kids and you may not be able to stop me. Treat me as if the crutches, the visual impairment and the hearing loss don't exist and we'll be instant friends. And always, always please remember, I am you.

Carla Charter is a writer, special needs legislative advocate and mother to three remarkable children. She has duplication 12q syndrome and is, in her words, learning every day how to "rock her disability in the real world."

Image by Sabi

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