What It's Like to Face Each Day With Rare Disease

The day I got a diagnosis for my rare disease I cried tears of joy, because I felt acknowledged for the first time; little did I know that the journey that was about to follow would be filled with chronic pain, disability, and the weirdest symptoms. If I had known maybe I wouldn’t have fought so hard for a diagnosis….

This is what can happen when you get diagnosed with a rare disease and there are no proper treatments, and a cure hasn’t been found yet. You don’t get treated properly, because the reality is, no one grants money for research for the 5,000 people worldwide who live with the disease. You are left with your pain and sympathy from others at best. You fall into the poor her category, but if anyone took the time to understand how complicated the disease is and how it can slap you in the face from one day to the next, they would know you are not looking for sympathy but support, and a shoulder to cry on.

No one will ever understand the pain you are going through. No one will understand how strong your body can become with uncontrollable stiffness attacks that bend you in all kinds of ways that you never thought were even possible. No one understands how much it hurts when even the smallest muscle groups keep spasming and shaking, and all the aftermath that comes with it.

The worst part is that your first line of oral treatment is benzodiazepine and opioids for the pain, and instead of having doctors trying to help you, their concerns are about addiction and not your quality of life. But what can you do when these are the medication that you need. Yes, you may become physically dependent on these, but not mentally. As long as symptoms and pain remain, a mental addiction is the least of your problems, and unfortunately you do not have an alternative to these medicines. There is only so much pain and suffering one can take and because of pure ignorance and lack of interest — me, a bubbly personality that advocates for herself and my disease, feels like my world has become so small. I should be the one deciding if I would rather have 10 years with a better quality of life or if I want to live miserably and preserve my brain every doctor is so worried about. It should be my choice.

Today I want to scream and shout and cry, but I can’t because I am strong for everyone around me. I feel that even some of the people who know me don’t even understand what I am going through, the daily battles, and the fears of the future.

Stiff person syndrome, like many rare diseases, is often called a silent disease. Eventually you end up retreating from life, and your true spirit slowly dies. I get told to stop using that phrase “if you can’t dance something is wrong” — but I realize that no one truly understands what that phrase means to me. They don’t know how much music and dancing were a part of my life, they don’t understand what it is to lose that.

I want to be able to show my reality. But of course, regardless of what I do, it will be hard for others to understand… Because how can they? How does one handle all of that? How does one live life and wake up every morning to face another day scared of what could happen next?

Today I still want to be strong. The ignorance I face, the people who only remember me because they see my advocacy page, shows me I need to be strong for me and no one else.