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Originally Posted by Susanne C.
I did not have the Athena panel run, so cannot give you the exact CMT variant. Dr. Arnaudo pegged me as a probable for hereditary neuropathy from the beginning, based on my odd gait, high arches, clumsy and uncoordinated childhood, etc. Also my EMG/NCS was abnormal and you do not usually get that with SFN alone. She sent me to Dr. Choudhry at Hopkins for a second opinion. I had the skin biopsy which showed advanced SFN, ( I have little or no sensation to above my knees and it is moving up.) and another EMG/NCS which confirmed the first. The final report was moderate to severe small and large fiber neuropathies with muscle deterioration. I cannot move the toes or front of my left foot, and I experience pain when I try to move my right. My arms and legs "fall asleep" several times each day ( and night). My feet and ankles are visibly wasting.
Hopkins offered to do a spinal tap, the Athena panel, to go as far as I wanted, but both neurologists said there was no treatment for what I have, and seemed to think I was making the best decision to just accept it and seek palliative care.
I did later realize that my birth father's family have definite severe cases, and my 27 year old son has it as well, so that pretty well confirms CMT.
IVIG will not help CMT, so if it does help you, it is probably something else. My understanding is that it helps demylinating neuropathies. Mine is primarily axonal, but as the nerves rot it all runs together.
You may want to return to Hopkins to see a neuropathy specialist, although it can be frustrating and sometimes fruitless to pursue a diagnosis. All you can do sometimes is treat the symptoms.
Look up books on chronic illness and chronic pain. I have found several of them to be very helpful. I did not have a career to give up, so I have not dealt with that loss, but I did have to stop being super mom and give up most of my intricate needlework, skills I spent many years perfecting. There is a lot of grieving with this illness, and new losses all the time.
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Hi Susanne,
Thanks for the information. I doubt I have CMT. The only thing I have that you mentioned is extremely high arches. It has actually been a problem for me. When I wore heels I always got a 1/2 size bigger so my arch would touch the shoe and most of the time that didn't work. I never was really clumsy until I got SFN. I am starting to find myself tripping up the stairs a lot.
As I said, I was just going to forget about finding a dx. Actually for the past year or so, I have just searched for pain management.That is how I eventually started IVIG. I am just worried about the muscle pain. I really didn't think that SFN caused muscle issues. My neurologist told me mine was nonmylinated fibers.
I can't imagine what you went through if your kids were young when this happened. Mine children are all grown. The youngest one is 23. I didn't get SFN until she was 18.
Could you reccomend any of the books you read? I think I am going to try and find a neuromuscular doctor in PA. If not then I might return to Hopkins. I am on a list for a doctor at hahnemann hospital but she has a waiting list in the double digits so I might have to wait for a long time. I'll keep looking around in the meantime.
At times my grieving seems awful but most of the time I hold it together. My family is wonderful but I don't tell them a lot. My husband is terrific so he hears a lot of it but I don't even tell him everything.
Thanks again!
hopeful
