[Nervous1]

Has anyone been to Johns Hopkins that has some form of undiagnosed neuropathy and come out on the other end with a diagnosis?
My neurologist is telling me that he needs an extra set of eyes on me since all of my tests come back negative. And I still pass the reflex and "feeling" tests on my feet. NCT and EMG were OK months ago. Only mild carpal tunnel.
So before I consider traveling to another state, I would like to know if anyone has any experience with Johns Hopkins.

Thanks in advance!
Nervous1

[Susanne C.]

I was sent to Hopkins for a second opinion two years ago. My neuologist thought it was a hereditary neuropathy, my EMG/NCS was abnormal, total loss of sensation to above ankles, poor balance, absent reflexes, and some pain. Especially because of my age (48, with children at home) she wanted to rule out any treatable condition, although she thought the chances were slim.

She arranged for me to see Dr. Choudhry. He was extremely thorough and competent, did his own EMG/NCS which required more than an hour with a heat lamp before he could proceed with the test, which took two more hours. His findings were slightly less dire than my originals, probably because of the heat, but similar. He did diagnose pinched nerves at wrists and elbows as well. I was sent for a full set of bloodwork, as well as a skin punch biopsy and the Athena test for HNPP. Skin biopsy showed advanced SFN, HNPP test was negative. He offered a spinal tap and further genetic testing, but supported my decision not to pursue a specific diagnosis since hereditary neuropathies are not treatable. Final diagnosis was large and small fiber length dependent neuropathy, with muscle loss. He was the only doctor in my entire life who was able to get any reflex response, although it was very slight.

They are very knowledgeable and competent. I did not feel that Dr. Choudhry had read my report or listened very well, however. At one point he said I should discontinue IVIG treatments as they were not likely to help. I have never received them, and had made it clear that I was only on neurontin and oxyodone as needed. I felt that both my neurologists discounted my pain, although both praised my pain tolerance during the lengthy EMG/NCS. His "good-bye and good luck" after we discussed further testing and dismissed it was sincerely meant. I believe that painful, untreatable, degenerative conditions frustrate and depress doctors. They want you to go away. Dr. Smith has had some interesting things to say about this phenomenon.

I believe they are appropriately considered the premier neuropathy facility in the country. I would not hesitate to go there if I were in pursuit of a diagnosis, or required treatment. I only live 90 minutes away, however, and I will probably not go back. There is not always a diagnosis, and if there is one, there is not always treatment. I believe it is important to come to terms with this.

Is your carpal tunnel bi-lateral? That in itself is reason to suspect something more involved. I was diagnosed with bi-lateral carpal tunnel several years earlier. My podiatrist later said that it was a red flag, and not classic carpal tunnel at all but part of a larger neuromuscular disease process, as it turned out.

[Nervous1]

Originally Posted by Susanne C.

I was sent to Hopkins for a second opinion two years ago. My neuologist thought it was a hereditary neuropathy, my EMG/NCS was abnormal, total loss of sensation to above ankles, poor balance, absent reflexes, and some pain. Especially because of my age (48, with children at home) she wanted to rule out any treatable condition, although she thought the chances were slim.

She arranged for me to see Dr. Choudhry. He was extremely thorough and competent, did his own EMG/NCS which required more than an hour with a heat lamp before he could proceed with the test, which took two more hours. His findings were slightly less dire than my originals, probably because of the heat, but similar. He did diagnose pinched nerves at wrists and elbows as well. I was sent for a full set of bloodwork, as well as a skin punch biopsy and the Athena test for HNPP. Skin biopsy showed advanced SFN, HNPP test was negative. He offered a spinal tap and further genetic testing, but supported my decision not to pursue a specific diagnosis since hereditary neuropathies are not treatable. Final diagnosis was large and small fiber length dependent neuropathy, with muscle loss. He was the only doctor in my entire life who was able to get any reflex response, although it was very slight.

They are very knowledgeable and competent. I did not feel that Dr. Choudhry had read my report or listened very well, however. At one point he said I should discontinue IVIG treatments as they were not likely to help. I have never received them, and had made it clear that I was only on neurontin and oxyodone as needed. I felt that both my neurologists discounted my pain, although both praised my pain tolerance during the lengthy EMG/NCS. His "good-bye and good luck" after we discussed further testing and dismissed it was sincerely meant. I believe that painful, untreatable, degenerative conditions frustrate and depress doctors. They want you to go away. Dr. Smith has had some interesting things to say about this phenomenon.

I believe they are appropriately considered the premier neuropathy facility in the country. I would not hesitate to go there if I were in pursuit of a diagnosis, or required treatment. I only live 90 minutes away, however, and I will probably not go back. There is not always a diagnosis, and if there is one, there is not always treatment. I believe it is important to come to terms with this.

Is your carpal tunnel bi-lateral? That in itself is reason to suspect something more involved. I was diagnosed with bi-lateral carpal tunnel several years earlier. My podiatrist later said that it was a red flag, and not classic carpal tunnel at all but part of a larger neuromuscular disease process, as it turned out.

Hi Susanne,
Thanks for response! My carpal tunnel is only in my right hand at the moment because I am right handed and I use the right hand when using the computer mouse.
If I switch to the left for the mouse, similar symptoms occur, just not as quick or pronounced. Both hands are affected by the stocking glove feeling and are visibly red and discolored at times. Also, sometimes hot or cold. Feet are the same way.
Makes me wonder if it is peripheral vascular neuropathy, but others on here say they have similar symptoms with hands and feet.
The discolored, red, puffy symptoms of my hands or feet is resolved by raising them above my heart. Does not solve the pain, just the color and swelling issue.

[en bloc]

Most of my medical care (neuro, cardio, GI, and rheumy) is at Hopkins. The neurology dept is top notch and I highly recommend them.