Discussions By Condition: I cannot get a diagnosis.

Several rare diseases, are they connected?

Posted In: I cannot get a diagnosis. 4 Replies
  • Posted By: Jstar9
  • March 10, 2013
  • 06:23 AM

My story is a tad long, but kinda interesting, so here goes!
I was born by planned c-section and stopped breathing soon after. I was incubated for a long time. My left side was also limp but all the experts in the town couldn't for the life of them figure out why. Everything eventually got normal and I was sent home with my parents.
When I was about four years old, I got investigated for falling over a lot. My parents thought I might have been flat footed, which I wasn't, however they found I had no reflexes anywhere. After some blood tests that came back really strange I had many investigations. They called in experts from all around Europe and it was a massive hullaballoo. Eventually they decided I had Charcot-Marie Tooth disease and pseudohypoparathyroidism, along with central hypothyroidism. It's strange that I have both, there is no reason why I should, and having one makes the other worse. My hypothyroidism kind of just stopped not too long ago.
In 2010 I had a massive problem with my ankle, and it was a problem so rare that they thought I was either lying about the unbearable pain I was in, or it was just extreme juvenile arthritis (I was 13 at the time). To make it worse I was only given panadol because of my age. They found out after about a year that I'd been born with a bipartite talus and it had now come apart. I had literally been walking on a broken foot for a year and I'd been given PANADOL. Even after they discovered it I only got tramadol which is an absolute joke and didn't cover the pain at all.
Anyway now I'm 16 and I also have the type of iron deficiency that makes the doctors wonder how you stay alive, crazy low blood pressure, and for some reason my periods won't go regular even though I got put on the pill and all my hormone levels are regular.
To make it worse, all DNA tests for all my diseases have turned up negative.
What is going on? Is there an underlying syndrome or something that would explain all of this? Any ideas are appreciated!!

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4 Replies:

  • I have no idea; you're a medical marvel 0.0; but that could be good news in a way, because I'm sure that a teaching hospital or a clinic somewhere would accept you as a patient. Have you tried booking an appointment at the Mayo Clinic, or some other similar place? They specialize in diagnosing rare/esoteric disorders; if it is some overarching problem causing all of your symptoms, that would be the place to go. Sorry I can't offer anything more helpful.
    Aaron-o 27 Replies Flag this Response
  • That's okay, thanks anyway! :DWhen I go back to Europe or to Australia I'm going to try and find somewhere kind of equivalent to Mayo. It is hard though cause most of those massive teaching and research hospitals are in USA and I don't live there :/At the same time it's nice to have all the registrars speak in hushed tones around me haha :PMe and one of my professors worked out that the probability of even two of diseases happening in the same person is something like there should be less than ten people in the world. Add my other problems and it's just statistically impossible.I really hit the genetic jackpot!!
    Jstar9 2 Replies Flag this Response
  • Have you been checked for CIDP a chronic form of Guillian Barre syndrome? Then read leaky gut and inflammation free diet. Hope this helpsCathy
    cathyban 2 Replies Flag this Response
  • Oh my goodness thank you SO MUCH!! I searched it up on wikipedia and there are so many things there that I have, the cardiac problems, this horrible pain in my back that radiates down, the orthostatic hypotension, weakness, muscle wasting, it's incredible!!Honestly thank you so much I'm definitely bringing this up with my Neurologist, whom I'm seeing next week.Once more, THANK YOU!!
    Jstar9 2 Replies Flag this Response
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