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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.

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SW-User

So sorry to hear that, it must be incredibly difficult but it's nice you have a better attitude than most of us

SW-User

I think it helps that I've had it since birth, so I don't know any better. Acquiring something like this at a later age is probably much more difficult.

SW-User

I don't know what to say but how did it affect you while getting a job? Also all the best, hope you live a long life, and I also hope. a cure is developed for Barth Syndrome

SW-User

@QueenOfQuirk: because of my limited energy i can't work more than 10 hours a week, but my skills and passion makes employers interested. Almost any application I send out at least leads to an interview.

There are several very promising leads towards a cure, though a lot more testing and development needs to be done to get them approved. That's probably going to take a few decades, which may be too late for me, but it is looking very good for the next generation.

SW-User

@Plobey: You must be incredible passionate about your job, congrats..This is the first time I heard of the Barth syndrome, I'll look it up on Google, I think some developments will be made in your life span as well, medical tech is advancing at a really fast rate :D