[hopeful]

Hi everyone,
I think I told all of you that my neurologist sent my paperwork to the national institute of health to see if they would see me.
Well I heard today and they rejected my case. I was really hoping they would see me. Actually, I felt like everything was hinging on them for a diagnosis.

A little update on my condition. I had a positive skin biopsy from my neurologist in PA. Then I went to Hopkins, they did their own skin biopsy and said I don't have neuropathy. They said probably Sjogren's even though all my blood work was normal. The doctor there said I could come back once a year for follow up to see if my blood work changed. Now you can see why I really wanted to be seen at NIH.

I think I would like to have another skin biopsy to see what it shows. I saw a doctor last year who was so rude and mean to me and said if Hopkins said it is not neuropathy then it is not. I'm so confused at this point. It sure feels like neuropathy. Of course my neurologist says his lab is reputable and the diagnosis is correct.

If you have suggestions, I'm open to anything. I live in PA and would even go to another state. My muscle weakness is getting worse and I'm getting worried again.

Hopeful

[Stacy2012]

I understand that let down feeling, I can really say I am feeling it too. I am sorry we are both feeling it.

I hope we both find comfort, healing, and direction.

[Dr. Smith]

Tests are not infallible, and IMO arrogant doctors aren't worth the effort dealing with. I haven't had the time to boil this stuff down yet, but it's here for the gleaning...

neuropathy skin biopsy false positive

neuropathy skin biopsy false negative

Doc

[Susanne C.]

Hopeful, I am sorry that you are dealing with this. The hardest thing in the world is having an inconclusive diagnosis and being disbelieved by doctors. It makes you feel so powerless.
I have also been seen at Hopkins. The doctor there basically agreed with my neuro that it was CMT and further testing was unnecessary since there is no treatment, but my EMG/NCS and skin biopsy both showed severe neuropathy. I do think they get carried away with their own reputation, the doctor claimed to have gotten a reflex from me, something no doctor in my entire life, even as a child, has been able to do. Neither my husband nor I noticed it, but he seemed excited about it. My EMG/NCS there was slightly less dire than the results from the local neurologist. He also found muscle atrophy. The most upsetting thing about being seen there was when the doctor told me I could discontinue IVIG as it probably wouldn't help. I have never been on IVIG. He didn't read my chart, evidently. He also seemed not to believe me when I said I wasn't taking it.
Both neurologists tossed me back to my PCP for pain management.
I would assume that your neurologist's test results are accurate. Skin biopsies are read in a strange way where the results have to be really bad to be positive. Was the Hopkins biopsy barely within normal limits? Mine does not use numbers but uses the word "devoid" of nerve fibers, so perhaps yours was similarly pass /fail?
It is terrible that your own doctor is taking that attitude about the results from Hopkins. That is an unhelpful consequence of their reputation in this area. As much as they are told to believe the patient and accept their experience, doctors can't seem to help themselves from focusing on test results and being impressed by big names.

[glenntaj]

--that I've written about a number of times here (you can look up posts under my name if you'd like), but the essence is that the determination of what is a small-fiber neuropathy through skin biopsy is based on a very strict statistical determination--the McArthur protocols, so named after the lead researcher at Johns Hopkins who was involved in the age-based "norming" of both experimental and control subjects at Hopkins when this procedure was first being developed.

The strictness of the statistical window--you are considered to have small-fiber neuropathy if you are below the fifth percentile or above ninety-fifth percentile in intraepidermal nerve fiber density for age-matched "normals"--probably leaves a lot to be desired, especially among doctors not familiar with how the protocol was developed (and by that I mean most of them). One big problem is that since almost no one gets a skin biopsy to measure nerve fibers unless one has symptoms, there's no "pre-morbid" comparison for a symptomatic person. For instance, you may be considered normal if you are in the twentieth percentile, but who knows where you were before symptoms started? To me, if, for example, you've gone from the fiftieth to the twentieth percentile, you've got a neuropathic process ongoing--but almost no one knows their pre-symptomatic numbers. So, the chances for false negatives are considerable.

This is why there is also supposed to be an analysis of the condition of the small fibers--are there deposits, swellings, excessive branchings, other signs of deterioration--included in the biopsy reports. Depending on who does the reports, though, these may or may not be there.

One good thing about skin biopsy is that it is sufficiently non-invasive that it may be repeated at the same areas over time. If one has biopsies a year apart and a big movement in numbers is seen, that may be more enlightening than the absolute numbers. I've discussed this with neurologists at Hopkins and Cornell, though, and many do think the numerical criteria for definite small-fiber neuropathy are set too strictly.

[IllPn]

Just wanted to let you know that a neurologist did not do my biopsy. I was having plantar fasciitis pain and the foot dr suggested doing that since I had such buzzing in my feet. She did this in her office. So just passing this on... the test did not rule this out 100% so the test was not real clear to me

[hopeful]

Thank you all so much for your responses. It is late where I am so my mind is tired and I can't respond the way I want too.
I'm going to look for thr results of both of my tests and come back to tell you.
Thanks again everyone. This makes me feel better

[skutters]

Hang in there.

[CeCe55]

It's no wonder that you are feeling worried, tired and let down. I too have experienced that let down feeling. This must be beyond frustrating for you to deal with.
I am hoping for better days ahead for you. Take care!

[heb1212]

Originally Posted by hopeful

Hi everyone,
I think I told all of you that my neurologist sent my paperwork to the national institute of health to see if they would see me.
Well I heard today and they rejected my case. I was really hoping they would see me. Actually, I felt like everything was hinging on them for a diagnosis.

A little update on my condition. I had a positive skin biopsy from my neurologist in PA. Then I went to Hopkins, they did their own skin biopsy and said I don't have neuropathy. They said probably Sjogren's even though all my blood work was normal. The doctor there said I could come back once a year for follow up to see if my blood work changed. Now you can see why I really wanted to be seen at NIH.

I think I would like to have another skin biopsy to see what it shows. I saw a doctor last year who was so rude and mean to me and said if Hopkins said it is not neuropathy then it is not. I'm so confused at this point. It sure feels like neuropathy. Of course my neurologist says his lab is reputable and the diagnosis is correct.

If you have suggestions, I'm open to anything. I live in PA and would even go to another state. My muscle weakness is getting worse and I'm getting worried again.

Hopeful

Hi, Hopeful... Who is feeling a "Bit Down." I so get it. I really try to hang onto my Hope... hope in healing, hope rooted in faith. I have had two biopsies that fall within normal density range but show mild/moderate axonal swelling that has "unclear clinical significance." I have posted about my situation before: a bad viral illness years ago and the sudden onset of body-wide neuropathy. I've seen numerous top-notch specialists from different specialties to address the various manifestations of what they think are "immune mediated" symptoms. What caught my eye with your post is the mention that they think "probably" Sjogrens. In your case, what has lead the doctors to say probably and not render a more definitive diagnosis? I have recently been diagnosed with severe dry eye in both eyes and have severe dry nose and throat. The antibodies, however, are negative for Sjogrens. I have been on Gabapentin and 10 mg. of Nortriptyline daily for two years, and I know both can cause dry mouth, etc., but I only recently began with the dryness, so I'm concerned/ suspicious of a developing auto-immune condition. I know a lip biopsy can be performed to absolutely rule this out, but I've read they're miserable. Have you considered it? If not, why?
When I first became ill, I looked to the day when I would be well again and could continue on with life as I knew it could be. Looking back, I knew in my heart something had forever changed but I was HOPEFUL that I was wrong. Now, I am adjusting to my "new normal" and trying my best not to let my health challenges rob yet another part of me, of my life. So, at the end of another day, just being able to say "I DID IT!" has to be enough. Don't lose hope! Maybe, just alter what you're "hopeful" for.