Why I Talk About Pompe Disease

Have you ever been told you talk too much about your illness? Has anyone ever asked you why you talk about your illness? Or worse, has someone ever told you they don’t want to hear about your illness? I once told my best friend if all of this became too much for her to let me know because I need her support and didn’t want to overwhelm her. However, I found no matter how hard I tried I could not stop talking about my illness. I found I would talk about it to anyone who would listen. I needed to talk about it — talking about it helped me deal with the changes occurring in my life. Talking about my illness helped me to regain some of the control I had lost, and the more I talked the more I found strength and purpose.

I realized talking about my illness didn’t mean that I was complaining or looking for sympathy or pats on the back from people. Actually, while I truly appreciate the wonderful compliments I receive from my family and friends, it can be a bit uncomfortable at times. I don’t want people to think I am fishing for compliments. What I began to realize was being my own advocate was very powerful and cathartic. I have heard too many stories from people who were told they were “just depressed” and their illness was “all in their head,” or that they weren’t “getting any younger” and that their “sore muscles are just part of the aging process.” I even met a woman who was told she needed to have more sex with her husband. A doctor told me women don’t get muscular dystrophy so I didn’t need to worry about it. About two years later I was diagnosed with Pompe disease, a form of muscular dystrophy.

I talk about my illness so no one ever hears these words again or has such a negative experience with a doctor. I talk about my illness in the hopes that in the near future it will no longer take an average of seven years to diagnoses rare diseases. I talk about my illness in the hope for the development of better treatments and cures for rare diseases. I talk about my disease so other people know they are not alone. I talk about my disease so people going through the diagnostic phase don’t give up when a doctor tells them something ridiculous. I don’t like to think of where I would be today if I had believed the doctor who told me women don’t get muscular dystrophy. I talk about my illness s I can educate doctors, nurses and other health care professionals. I talk about my illness to educate politicians about the needs for quality affordable health care and accessibility for rare disease patients and people with disabilities. But mostly I talk about my illness for me. Because I didn’t give up and continued to talk and ask questions I found a great doctor who connected me with doctors who were able to diagnose me and helped me start my biweekly treatment. It can be easy to feel discouraged when struggling with pain, sickness and things that are out of your control. This gives me some of that control back, and I can do something constructive at the same time.

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