Rare Disease Patients, You Must Make Yourselves Heard

I’m a rare disease patient. Over the years, I’ve learned how to live with it, and what works best for me. Most of the time, I can manage the delicate balancing act of owning my chronic disease. However, every now and then, things happen out of my control that require more help than I can give myself.


It happens. There are those days when I’ve exhausted every resource I can at home and that usually means an ER trip is coming. Going to the ER when you have a chronic illness, or worse, a rare illness, can be scary. ER doctors don’t always know how to treat you and/or may not listen when you tell them what works best for you.

I’ve been to the ER a few times for low blood calcium, which is caused by my hypoparathyroidism (a rare disease). Low calcium isn’t commonplace at the hospital and many times the staff want to do every test in the book before treating me. While part of me understands they want to be sure before proceeding with a treatment, I also know what I need in that situation. Meanwhile, every minute spent waiting on test results, I get worse. This isn’t my first rodeo.


rare disease patients
figure 2: laryngospasm involves temporary paralysis of the vocal cords
rare patients heard 2
figure 1: tetany is uncontrollable seizing of the muscles

My calcium would continue to drop even while they were running the tests I already knew were abnormal. The same tests that are consistently abnormal in my records. I’ve gone into intermittent muscle spasms (tetany – figure 1), or vocal-chord seizures (laryngospasm – figure 2) where I’ve been unable to speak and even struggle to breathe because I didn’t get care fast enough. I didn’t get the care fast enough because my concerns weren’t being heard. Why not listen to me? No one knows my rare disease better than me.

Understandably, it makes me apprehensive to go to the ER. I’ve been treated like my concerns aren’t valid. My assertions have been ignored. Going to the hospital almost always means getting worse before they make me better. I always cross my fingers anytime I need to go.


That said, not all of my ER experiences have been this way. I’ve had some amazing and caring doctors/nurses take care of me while in the ER or admitted. I’ve gotten better because of their care. Without their help there have been situations where, I don’t know if I would have made it.

Still, as a rare disease patient I never know what I’m going to get when I put myself medicine’s hands. It’s a gamble every time. So having an advocate or being able to advocate for yourself is crucial.


Sam and Mom
Sam and her Mom advocating in D.C.

The most important thing you can do for your health is to be an advocate for yourself. You’ve got to speak up, even if they may not listen right away. If you’re unable to do that, have someone with you who can. Someone who knows you and your conditions. I have a fierce momma bear (my Mom) who is always ready to jump in when I’m not able to speak up.

YOU know your body best.

My advice: Stand up for yourself. Make yourself heard.

Samantha “Sam” Smith is a Health & Wellness Coach and the Director of Public Relations for G-PACT, a non-profit patient support group for Gastroparesis. She was born, raised and still lives in upstate New York where, in the warmer weather she loves to run. Sam has organized fundraisers, lobbied congress, and been part of many awareness campaigns for chronic disease awareness.Samantha H Smith

You can find Samantha’s blog, Hustle and Heart, here, or her Instagram account here.

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