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10 Things Having a Rare Disease Isn't

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A diagnosis is and can be many things. When I was diagnosed with 22Q11.2 deletion syndrome, I was overwhelmed with everything it is. People with this condition have hard lives. However, there are so many misperceptions about genetic syndromes, or rare diseases, in general, and I’m going to try and debunk them. People with this syndrome, like me, are leading wonderful adult lives. And yes, the condition has presented challenges, but I have gotten through them. I’ve established a career. I’ve written a novel. Whether you have a condition or not, you can do those things, too. So if you have 22Q or any rare disease, you might be able to relate. These are the 10 things having a rare disease isn’t:

1. A lost cause.

I overheard a conversation in a coffee shop recently, and someone said a girl they knew was a “lost cause” because she had a lot of health issues. And, no, I wasn’t eavesdropping, but I was about to turn around and intervene (but I refrained) for the girl they were talking about who couldn’t speak for herself. No human being in this world is a lost cause. That was just a blatant insult.

2. A giant fork in the road I can’t get around.

My health condition isn’t a life-sized fork in the middle of my path preventing me from moving forward or being successful. Each day, I wake up, get out of bed, and do my work with the goal of helping someone else. Life is a challenge for everybody, but mindset is a valuable asset that can make you stronger. What helps me get through those “fork-in-the-road” days is making sure my thinking is in the right place.

3. A sad story.

Every time I disclose my genetic disorder to somebody, I’ll hear, “Oh, you poor thing,” and then I have to walk away. Actually, a reporter even told me that once. I had to correct her and let her know that yes, I’ve had a lot of challenges, but I am so grateful for the gifts, abilities, and talents I have which contribute to my happiness now. I do not think I have a sad story.

4. Doom and gloom all the time.

Not everything in my life is doom and gloom. Sometimes I go through tremendous obstacles, but I know for a fact that I’ll come out on the other side stronger. Obstacles arise to present something to us–a better understanding of humanity, suffering, and hardship. We all go through these things at one point or another. My rare disorder doesn’t define or hold me back. It isn’t a dark cloud following me everywhere.

5. A walking anomaly.  

I understand that a syndrome means a cluster of anomalies, but that doesn’t mean I am a walking anomaly. When I first got the diagnosis of 22Q, I felt extremely alienated, but I don’t anymore. Today, I embrace my differences and celebrate them through my art.

6. It doesn’t make me “weird” or “ugly.”  

Scars are not weird. They are not ugly. They are beautiful and an exhibition of strength. When I was young, I endured bullying and almost lost my life to suicide because of it. I am glad I survived those years and ignored what those monsters of my past said about and to me.

7. A constant disorderly mess.

My genetic syndrome isn’t a constant disorderly mess. Sometimes I’ll feel that way, but that’s not the case. Life can get chaotic, but it can for everybody, with or without this condition.

8. An inconvenience to anybody else.

I am the one living with this condition. Not you. There is no reason anybody else in your life should feel inconvenienced because of your limitations. I am a solve your own problems type of gal and always have been.

9. A never-ending battlefield with myself.

I am not always on a battlefield with myself. My health challenges aren’t evil spirits trying to pin me down. When things come up, I thank God I am alive and do something healthy for myself whether that’s writing, exercising or preparing a salad.

10. Always so hard to live with.

Life is a mixture of yin and yang, highs and lows, lights and darks. Just because I have a genetic disorder, doesn’t mean it’s always so hard to live with. I have good days too, just like everybody else.

Originally published: November 15, 2018
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