Correct diagnosis- another perfect example

    • Anonymous
      March 23, 2011 at 2:38 pm

      Recently I asked the somewhat rhetorical, yet real, question- do you really have the correct diagnosis? And then, we had a discussion about genetic testing.

      Have you had any? Genetic testing, I mean. Do you know the results? Does your Doctor say, ‘no you don’t need that’?

      In this most recent case, a late diagnosis of CMT rather than CIDP. for info on CMT-

      http://www.cmtausa.org/index.php?option=com_content&view=article&id=73&catid=10&Itemid=51

      http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm

      And, a reminder about the testing-

      Athena Diagnostics Entrapment Neuropathy Evaluation This individual does not possess either the duplication or the deletion of the PM-22 gene associated with CMT1A and HNNP respectively This individual is unlikely to be affected with or predisposed to developing the disease phenotypes associated with mutations in these genes.

      In this test both CMT and HNNP were mostly ruled out. Mostly? Well, the test is not all exclusive.

      think about it.

    • Anonymous
      March 23, 2011 at 6:33 pm

      Yuehan:
      I had the genetic testing last year through Athena. I never saw the written test results that were sent directly to my neurologist. He read them and then telephoned me to advise the results excluded hereditary causes of my neuropathy.

    • Anonymous
      March 23, 2011 at 7:31 pm

      Thanks for your reply Goodney,

      If we can get even one victim to avoid the dismay, 4 or more years later, of the ‘wrong’ diagnosis, then it’s all worthwhile.

      I prefer to collect all my own records. They come in handy occasionally, even if it’s only to remind me what testing I’ve already had.

      Brings up another rhetorical question- Do you even wanna know you have a genetic condition? Nothing you can do about it. I’ve learned I want a definitive diagnosis, and a correct one.

      Genetic Problem? Yeah, now you gotta deal with it, as in get genetic counseling. Think family, siblings, kids, grand kids, insurance issues etc.

    • Anonymous
      March 23, 2011 at 9:57 pm

      They “fish” for the telltale gene responsible for hnpp, but the chances of finding it is like finding a needle in a haystack.

      The best Drs. look for presentation and some will even throw some ivig at the patient to see any improvements to verify cidp.