Rare Disease Day is a day that is exciting to me, because there is such little knowledge of rare diseases in the United States. A rare disease has many definitions, but the most important one to me is that rare disease's get no research. Without research, there can be no chance of breakthrough treatments.
Those of us with rare diseases are left with many things to worry about. The doctor's that successfully treat these diseases are few. As I'm looking for treatment for my newest rare disease, there are few surgeons who have successfully operated.
My newest rare disease is Kienbock's Disease.
As I've written about before, I have Kienbock and Preiser Diseases. Kienbock is having Avascular Necrosis of the Lunate. The Lunate is one of the wrist bones. Preiser's Disease is Avascular Necrosis of the Scaphoid. Having both together is also rare, even there is not a specific name for this condition.
My other rare disease is Ehlers Danlos Syndrome. There are many types of EDS and all have their own specific symptoms. I have the Hypermobility type, and it is not as rare as the other types. This is a genetic mutation that affects connective tissue.
I've had finger and toe joint dislocations as well as subluxations in knees, shoulders, and hips. Finger splints have been worn during the time that my fingers were dislocating often. I had not seen any problems inside my body until I had prolapse of the uterus, bladder, and rectum.
The surgeon knew that I had this type of EDS and commented many times with me that he could now see it. He said that he had never seen tissue like that before (not in a good way). Prolapse is a common symptom of EDS hypermobility type.
There are over 10,000 rare diseases and 30 million Americans have a rare disease. You may know one of us. We appreciate your questions, because it's powerful to share insight into diseases that affect us. Knowledge is powerful. Knowledge also can use that power to create awareness and get support and research.
@2025, copyright Lisa Ehrman
Disclaimer: I'm not a medical expert. This post contains my experiences and opinions, and is not meant to be taken as medical advice. If you have a medical concern, please consult your personal physician.
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