Dealing with a Rare Disease

posted 3 years ago in Wellness
Post # 3
Member
2675 posts
Sugar bee
  • Wedding: May 2014 - Madison, WI

A very good friend of mine has struggled for years with a rare disease. She went through years of being un diagnosed and misdiagnosed, then saw specialist after specialist. She now after years has a dedicated team of specialists at one hospital. She goes there for everything. If she goes into an ER they normally don’t even know what to do for her, so unless it’s life threatening she has to wait it out and see her specialists. 

Because her disease effects pretty much everything she no longer sees a GP. I’ve seen her go through what was a long and difficult process. The sooner you’re able to find a doctor who can adequately treat you and knows what to try and what might work for you the better. 

Post # 5
Member
284 posts
Helper bee
  • Wedding: June 2014

My youngest sister has a rare form of anemia  for about 2 years she saw Dr after Dr And nobosy knew what to do. I think what helped her most was the fact she was surrounding her with love and she knew no matter the outcome  she would never be alone.  At 13 she basically had to stop all activity. Which is hard for a kid that age. Now things are better and she is a floor gymnast. She still can’t do contact but she puta her heart and soul into what she can do. I admire her so much for her strength and her ability to laugh through it all.

Post # 6
Member
2169 posts
Buzzing bee

@AB Bride:  We have a rare disease in the family that is unfortunately unable to be diagnosed via genetic testing and may or may not develop with age. So far there is only one person we know has it for sure.

Generally we’ve been the ones doing our research, reading papers from scientific journals, and informing GP’s. Everyone in my immediate family is in in science/healthcare, so we’re not strangers to reading scientific papers. We see specialists as much as we can, and obviously they know more information about their specialty than GP’s do. Honestly, we’ve done enough research that the things specialists have told us generally have not been news for us. I think it’s very important for individuals to be their own healthcare advocates as much as possible. 

Post # 7
Member
3557 posts
Sugar bee
  • Wedding: August 2014

I have a respiratory condition that is very commonly mis-diagnosed as asthma. For years my asthma doctor refused to consider another diagnosis and continued to up my meds which made me sicker and sicker. At the age of 19 I couldn’t climb a single flight of stairs without losing my breath, I was beyond frustrated. I went and got a second opinion which officially un-diagnosed me with asthma, but couldn’t figure out what was wrong with me. After spending quite some time trawling journal articles I figured out what was wrong with me. I didn’t get officially diagnosed until a year ago though when an episode landed me in the ER and they stuck a camera down my throat to see what was going on. It wasn’t a very helpful diagnosis though, as there is no treatment, but at least it’s not life threatening, it just pretty much prevents me from doing any kind of aerobics.

The best thing to do is know as much as you can, and to be your own advocate. You know your body best, and if what the doctor is telling you doesn’t mesh with what you are experiencing keep asking questions.

Post # 8
Member
1311 posts
Bumble bee
  • Wedding: January 1994

Yes. I experience this myself. It is difficult to live with. Try and find a support group of some sort of other people who have a similar issue. It might be helpful. I found several groups on facebook. Maybe you can too?

Post # 10
Member
3557 posts
Sugar bee
  • Wedding: August 2014

@AB Bride:  ugh that has to muddle things. Good luck, I hope you get some answers and can start feeling better soon.

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