Waiting for diagnosis, looking for support

    • March 22, 2018 at 7:03 pm

      Hi, I really hope it is ok for me to post here as I am still waiting for test results to confirm diagnosis. I apologise for the length of this post!

      I am 26 and was very fit and health until August last year when I suddenly developed foot drop on both sides. A few days later I woke up with my heart rate only 38. I was admitted to hospital and diagnosed with an unspecified autonomic condition. I also began having problems with orthostatic tachycaria and low blood pressure.

      I had an appointment with my neurologist (have had very bad migraines for years) but he thought my problems walking were just a bad habit. Another doctor sent me for a nerve conduction study. The foot drop was better by this time so I was very shocked when the results showed demyelination in all four limbs. The electrophysiologist thought I probably have A genetic condition called HNPP despite having no family history. The doctor who sent me for the NCS didnt think it was HNPP because of the autonomic problems. Fast forward 7 months and I have been passed round 4 neurologists as well as
      Cardiology, Rheumatology and genetics. I finally had an appointment with a neurologist who specialises in neuropathy and he was 99% I have CIDP and that it could be treated with IVIG. He organised a lumbar puncture (protien was very slightly elevated but probably not clinically significant). He also sent me for another NCS. The doctor who did the second NCS said 90% of people with results like mine have HNPP and not CIDP. He took a blood test for HNPP and I am waiting for results now.

      I have tried really hard in the last few weeks to be careful and have stopped crossing my legs and resting my elbows on my desk in case I do have HNPP. Despite my being carefully my symptoms have gotten worse and the numbness has slowly spread from my hands and feet up to my elbows and knees. Things have gone downhill in the last few weeks and I am having quite a bit of trouble getting around even with two AFO.

      I am really struggling now with not having a diagnosis and going over all the possibilities in my head. I just want to know what is wrong!

    • B
      March 23, 2018 at 1:04 am

      Sorry to hear what you are going through. I hope you have some solid answers soon. Are you aware that this foundation as a page listing “Centers of Excellence” with doctors who specialize in CIDP?

    • jk
      March 23, 2018 at 11:55 am

      It is difficult to not have a firm, verifiable diagnosis. According to the National Institutes of Health (NIH), “The diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) is established in an adult with (1) recurrent focal compression neuropathies and (2) family history consistent with autosomal dominant inheritance.”

      In your case the doctor has already ordered the PM-22 gene deletion test. I also had one of those tests.

      Which diagnosis did I want? Neither. Because HNPP is family history related it is somewhat easy to say- nope, never heard of that on either side of the family. Well, that depends on how personal the family tree talks get. Sometimes, the family history remains unreported for various reasons.

      Well, your test will be back soon. Then you’ll know.

      In my case, in addition to the PM-22 gene deletion test, ‘they’ also looked for Charcot-Marie-Tooth disease (CMT) among many other tests.

      I suggest people read this article: https://emedicine.medscape.com/article/1172965-overview

      If you get a membership required warning it’s no problem. Become a member.

      Good luck and best wishes.

    • March 30, 2018 at 3:24 pm

      Thanks for your support. I found out on Tuesday that my genetic test was positive. Bit of a shock as we don’t have much family history.

      On Wednesday I got acute urinary retention and had to be admitted. I am still in the hospital, still got a catheter and my neurologist is majorly confused as to what is going on. He says this is definitely not just HNPP as it doesn’t cause autonomic problems and I now have numbness on my body not just my limbs.

      Been for an MRI today which all looks fine. Have no idea what is happening now.