Made my OWN appt, waiting postponed.

    • Anonymous
      March 15, 2010 at 11:27 am

      For those of you following what’s going on, I wanted to run this by you.

      My sister had a supposed genetic test for CMT three weeks ago. Was supposed to have results today.

      I asked my neice if she’d heard any news and on Sat night, her mom told her that it will be two MORE weeks b/c she had to give more blood. When questioned as to why, she would only say that she has an awesome Dr that did and Intern at Mayo and that he is thurough.
      Yeah, well My Dr did his intern at Mayo, too.

      something is fishy.

      I made an appt with my OWN Dr on the 23rd. Maybe I will know something by then from her, but not counting on it.
      I need my own test with my own results ! I should have known better.

      Any clues to what you all think as to why additional blood tests would be needed before she got results ? And, two weeks ? I think it’s a stall tactic.

      Stacey

    • Anonymous
      March 15, 2010 at 4:51 pm

      I believe CMT blood tests take about 3-4 weeks to get back. I don’t see why they would need to do another test unless something came back & they want to do a re-check.

      I think it’s wise to get your own blood tests done. You & your sister are different people. Just because she may or may not have something has nothing to do with what is going on with your body.

      I’m actually surprised a CMT test wasn’t ordered for you a long time ago. Emily has had one along with Myasthenia Gravis & Lupus. I thought those tests were standard in dx’ing.

      Kelly

    • Anonymous
      March 15, 2010 at 6:36 pm

      I’ve been thru it about five times in the last 6 years [for different things] and it never gets easier.
      Just hoping and crossing my fingers and eyes that the tests go to the right labs, have been handled perfectly and that you can get a copy of the results to mull over some time in the future.
      Nothing with all this stuff is easy, ever. I am hoping that whatever the outcome? It’s the most clear cut diagnosis…and, that there are things that can be done to help. You will be on my heart and mind until, and after, you know what you are dealing with.

    • Anonymous
      March 15, 2010 at 10:07 pm

      there are at least 30 genes affected under the heading of Charcot-Marie-Tooth disease. It is very complex. My best guess why more blood is needed is that it takes a lot of blood to test for many genes. People start with the more common ones that also best fit the clinical situation, but because the clinical situation can vary in people with Charcot-Marie-Tooth, additional genes might need to be tested. If the common ones are negative, then one looks a little further done the line.
      This is a really good reference sites about the genetics of Charcot-Marie-Tooth “ghr.nlm.nih.gov/condition=charcotmarietoothdisease”.

      Also, one wants to be really sure about a genetic test, so another reason to give more blood is to confirm something if there is any question about it. I would guess that the reason is the “still looking for the answer one”, but it also could be this.

      Hang in there.
      WithHope for a cure of these diseases

    • Anonymous
      March 16, 2010 at 9:32 am

      Apparantely, she was back at the Dr yesterday giving yet more blood. When my neice asked her why, she would only tell her it’s b/c her Dr is so “good”.
      She says now that results should be known by the 23rd. The day I go to the Dr myself.
      We’ll see.

      I think she knows something and doesnt want to worry her daughter. I definitely understand that and I would be the same way. It would be nice to let ME know but I dont expect it. She is never one to say she is sorry or admit when she is wrong…and she wouldnt have to, all I want to know is whether or not I am included in this mess.

      In the beginning, I had blood tests when I had the spinal tap. They took 22 vials of blood, testing everything under the sun, except for CMT and I dont think lupus, either.

      I’ll update as I know more.
      thanks guys.

      Stacey

    • Dawn Kevies mom
      March 16, 2010 at 10:31 am

      Hi Stacey,
      They probably did lupus, it is usually a ANA test, check for those acronyms on your results. It is kind of a general test for a couple of autoimmunes.

      I wouldn’t worry about your sister, based on your description, you may or may not get the full story. It is best you follow your gut and get your own tests. You should just go for the big mac daddy and get them all, ana if not on ivig, regular panels, cap rast, elisa cmt vitamins minerals etc, all of it. Ask for the test to see if you are allergic to ivig, they test igg iga etc. I did not write the acronyms correctly, some should be capital, some small, you will have to ask doc. Maybe that can give you some answere why you react to ivig. Good luck, keep us posted