I Have a Rare Disease
There are about 200 known patients alive world wide and I'm lucky to have been born in the country that leads the scientific research of the disease. In fact the combination of symptoms was first described based on the history of my family.
The effects vary widely from patient to patient. Some have died within days after birth and others didn't even know they had it until they had a genetic test because a relative was diagnosed. Personally I'm blessed to only have muscle weakness, exercise intolerance and very minor heart problems.
Little is known about the future, except that patients with this disease can be stable for decades but eventually go downhill very quickly. (Sometimes within seconds, but in the best case scenario within months between the first worrisome developments and death.)
Although this may sound bad, it actually motivates me to make the best of every day. I'm not afraid to die young or before fulfilling all my dreams, but I am afraid to die knowing that I could have accomplished a lot more in the time I had.
The effects vary widely from patient to patient. Some have died within days after birth and others didn't even know they had it until they had a genetic test because a relative was diagnosed. Personally I'm blessed to only have muscle weakness, exercise intolerance and very minor heart problems.
Little is known about the future, except that patients with this disease can be stable for decades but eventually go downhill very quickly. (Sometimes within seconds, but in the best case scenario within months between the first worrisome developments and death.)
Although this may sound bad, it actually motivates me to make the best of every day. I'm not afraid to die young or before fulfilling all my dreams, but I am afraid to die knowing that I could have accomplished a lot more in the time I had.
