My Story Shared on Rare Disease Legislative Advocates
Hello, and welcome to my Rare World! I’m your guide on this journey, Amanda Henderson, a 39 year old disabled Graphic Designer. I live in Oakland, Iowa with a husband and his two children, a cat, and my bonus companions Sadie and Lola, our rescued dogs. Life is never dull around here. I long for little more than peace, rest, and the ability to continue small projects here and there, if for nothing more than to feel a part of the living.
In 2012, after a long battle of visiting doctor after doctor with little or no positive results for years, and being left to my own devices for thriving and coping for far too long, I was diagnosed with a rare disease: Ehlers-Danlos Syndrome, hypermobility type. My life was forever changed as I was placed upon a new path of educating myself, and learning to deal with a disease that had, indeed, plagued me since birth. April 11th of that year brought my entire being, and all of it’s faults, into focus. Every seemingly separate malady I had been fighting with now dwells under the same roof of EDS. The relief I felt at being validated was palpable, and vaporized before my eyes from several tiny elephants in the room, to one giant, suffocating being. The bittersweet diagnosis was a relief, but it was also disheartening to know that for this disease, there is no cure. I’ve been doomed to a life of managing symptoms in a corner of the world that has so little knowledge or help for the subject.
I have read innumerable articles on the subject of my disease. I’ve taken notes, designed a web-site, and made myself a guinea pig of any kind of relief I could find. Several things have helped my body function better. Many other things have been a hindrance, and the reality is there isn’t much more I can do for myself from my couch and laptop. I’ve noticed this disease called the opposites disease, in that many things that help a ‘normal’ body to function properly actually are a roadblock to recovery in an EDS body. I’ve experienced this to be true, and am never surprised when a seemingly helpful cure goes awry in me. I just keep moving on to the next new and improved idea, and keep my fingers crossed that it will be a help, this time.
EDS is a genetic predisposition of lack of collagen. There are 27 known types of collagen found everywhere in the body, so it has total system involvement. Collagen can be found especially in skin, ligaments and tendons, but also in hollow organs, arteries, veins, and myofascia. Different types of EDS effect different types of collagen, but there has not been enough study to determine exactly which ones, nor to bring a cure to any of them. The types of EDS are a rather loose structure for the disease, since having it can cross into other types, without full knowledge.
There is no one test that can pinpoint the structure in each individual, and we can be affected differently from each other. Therefore, how do we determine which remedies will help, and which will not? It’s all guesswork, trial, and error.
I believe a better alternative is to visit a doctor who specializes in EDS, and has connections with other doctors who specialize in the various diseases that go hand-in-hand with EDS. I’ve had my 31-page application in to such a place, the EDS clinic in Baltimore, MD since September 2014. Upon asking about its arrival, I’ve been told via e-mail that there is a backup in the system, and that they will get to it as soon as is possible. I am currently still waiting for word of an appointment.
As if all of this wondering and waiting weren’t enough, to add insult to injury, there are other rare diseases that are capable of working against the hard work of maintaining this disease. For better maintenance, it is much preferred to have the knowledge and diagnosis of each disease. For example, Mast Cells can play a critical role in this disease. Also, the Autonomic system can be dysfunctional, and require other treatments that can help or hinder the work on other areas of maintaining this disease. Total physical diagnoses can be of great benefit for one struggling with EDS. The knowledge of these underlying conditions lie with the EDS specialists, of which there are too few, and too far outstretched across the country.
The conclusion of this journey is here, at home, in Iowa. I continue to struggle daily with an illness that keeps me on the precipice of life, dwindling between independence and self-sacrifice. How long will I be able to keep up with the desires of my heart, to fulfill a life worth living? When will the day come when I am no longer mobile with a wheeled walker, and am confined to an ever-narrowing path? There are answers out there, somewhere, in a world seemingly content to leave the rare behind. Do we cost too much to consider a cure, or supplying enough medical knowledge and understanding to bring hope and healing to the Rare millions who live life day to uncomfortable day with a smile on our faces to mask the uncertainty of our futures? Clearly, I don’t mind being a guinea pig. If the answer lies within volunteers to poke and prod, count me in. I’m up for challenges in life, as I’ve learned to live with so many. I dream of being part of the answer. Whoever has the power to change these lives, I’m here, waiting, watching, ever hopeful, willing to lead and be led along this lonesome journey.
