Advocate for Rare Disease Day

Written by: Amanda Henderson, February 27, 2017

As rare disease day approaches (Feb. 28), I am overwhelmed and consumed with the topic that keeps myself and millions of people at a constant level of struggle. I think of the personal relationships I have gained via Chronic Life online groups, and the fact that there is more to learn about us every day. I also think about our reliance on the medical community, and how it can make or break us, at times. There is much to consider in a rare disease survivor, and the differences between the lives we may at one time had known, and the lives we currently lead are vast, not widely known or recognized, and sometimes heartbreaking. Yet, we are 1 in 10 of the population, and there are about 7,000 rare diseases that are known. How are we lost in a chasm between the American Dream and basic survival? It's a question we fight to have answered, and advocate for as often as possible.

It took more than seven years of constant pain and bodily suffering to finally be diagnosed with Ehlers-Danlos Syndrome, hyper mobile type, at age 37. I had clear markers from birth, yet doctors couldn't wrap their heads around all of the ailments I suffered from as a whole instead of separate items. I was often made to feel that I was incompetent and not correctly fulfilling doctors orders to remain ill. That could not have been further from the truth. In fact, I am continually gaining more diagnoses to add to the ongoing list, and only recently feel that they are being taken seriously- though, there are still plenty of nay-saying doctors who refuse to see the whole of my syndrome. Much of it remains invisible, and stubbornly refuses show the vastness of everything it encapsulates. It is always there, for me, right under the surface as I try my best to live as much as I am capable of, and then some.

My story is not unusual. It remains the norm for the rare disease community. Unless symptoms are so very obvious that they reach out and hit doctors on the head, we are left to grapple with symptoms and treatments that are ever-growing and changing. Our bodies are not relatable as a normal body with conventional therapies that will fix its maladies. They often revolt and become more problematic when given medical care that would traditionally help. We often suffer through these efforts, for what else is there to do? One of my own examples, the seemingly simple addition of a port for easy access of IV treatments, etc, lead to much discomfort as it flipped over inside of my chest. I was told it was a rare occurrence as it was turned and reinforced in the doctors' office. Because of my EDS, the scar tissue that is meant to encapsulate it and hold it in place is too fragile and will not do its job. The port reminds me of its existence every day with piercing pains where stitches remain to do what my body will not do. This is just one instance of the idiosyncrasies in my EDS body.

I believe that anyone with rare disease whose body does not comply to conventional treatments should be recognized and given 'outside of the box' therapies. Perhaps listening to the dreaded research that we have done ourselves would vastly improve the quality of life for us, as well. We are definitely worth the effort of a few extra minutes to follow our lead and rely on us as experts of our own illnesses, instead of tossing aside our thoughts as misguided. How many times do we need to prove ourselves capable before you'll finally take our knowledge into account? The hippocratic oath is not a secret- we know that you are asked to do no harm. That statement encompasses much of what we live through on a daily basis, from how we are treated, to how it effects us. We are often left feeling vulnerable, inept, and especially harmed when facing the medical community that we so fully rely on to keep us as whole and as healthy as we can be. I advocate for better understanding, sensitivity, and more time for research when necessary. It doesn't seem like too much to ask- after all, we are paying for the visit. Often, in more ways than one.

There are many ways to participate in Rare Disease Advocacy. Here are some links to get started:

http://www.rarediseaseday.org

http://rareadvocates.org

https://globalgenes.org

https://rarediseases.org

http://www.eurordis.org