How many Rare Diseases do you know? 1 in 20 people will live with a rare disease at some point in their life. I actually have 2 rare diseases: Ehlers Danlos Syndrome and Mast Cell Disease. Most rare diseases have no cure and many go undiagnosed.
Rare Disease Day brings awareness to the public, researchers, and policy-makers. 100’s of groups all around the world are participating in Rare Disease Day this year. There are many events and fundraisers being held.
My Rare Experience:
Having Ehlers Danlos Syndrome means that you are born with this disorder. Although no one before me has been diagnosed, there are signs of it in my family tree. If you have it, there is a 50% chance that you will pass it on to your children. EDS is rare, but many people think that if it were diagnosed properly, it wouldn’t be.
At birth, the doctor commented on my thin, translucent skin. I also had hips out of place and wore braces in the crib for a time. My feet were flat and I also had pigeon toes. During the young years I wore “corrective shoes”. I remember them being heavy and very firm. (it’s funny now that my shoes are heavy and firm, to help the awful pain)
Over the years I had more and more of the pain that can be a problem for many with EDS: scoliosis, kyphosis, and lordosis made my back hurt. I bruised easily and had scars that healed with a shiny surface. As I aged, my joints became a problem. Even though there wasn’t swelling, the joints hurt.
I certainly didn’t think of myself as “double jointed”, but was able to do many unusual things with my fingers and toes. I could also wind my legs around things and twist myself into a pretzel. (I just thought that everyone could do this) Much of this became painful in my 40’s and in my 50’s things began to subluxate and even dislocate.
I was finally diagnosed at age 53, after doing much of my own research and getting a lot of shrugged shoulders from doctors. It took a trip to a Geneticist to get a definitive answer. What a relief! I just wanted to know what was causing all my pain.
Even with the diagnosis, there was no cure and treatment. Doctors just treat the symptoms with one drug after another. Certain types of exercise are recommended, but not always tolerated.
I also have another rare disease: Mast Cell Disorder. I wasn’t diagnosed with this disorder until I was about 54. Although I had allergies since a few weeks old, they grew progressively worse until my 20’s. It was then that I began to have Anaphylaxis. Food additives, cigarette smoke, dyes, and many odd chemicals set my body on a nightmare trip. I now use an Epi-Pen to stop the Anaphylaxis.
Because there are over 6,000 rare diseases, they often get no attention or research. Research starts when there are great numbers of people affected. Research is what brings about treatments and cures. So, it’s very important to spread awareness of Rare Diseases and their great need of attention and help.
@2019, copyright Lisa Ehrman
Disclaimer: I’m not a medical expert. This post reflects my opinions and experiences and are not to be taken as medical advice. If you have a medical concern, please consult your personal physician.