Thank you all for the kind words and encouragement. It means so much to me to know that there are people far and near who hope and pray for the best.
I finally have a little more time now that work is done, and the kids are in bed.
For the most part I felt like the trip was helpful, however there were some things I felt frustrated that they didn’t probe, and I have some questions about the direction Dr. Singleton recommended taking.
The neurological exam was pretty straightforward. No abnormal reflexes (though they did not test for a couple I thought they would like jaw jerk), and no impaired motor skills. No clinical weakness, though strength is so relative. Like most dad’s, at my best I could lift my oldest over my head, moved the washer and dryer into their nook by myself, and took the scouts on a 50 miler. Even on a bad day I think I can resist the petite twenty something resident trying to push my foot in a direction I don’t want it to go.
The doctor did probe more by asking me how I felt in terms of my maximum strength, and how long it took me to recover after exerting myself. He did not seem to do anything other than note the sensory symptoms, and anything related to swallowing (this was the part I found frustrating). In fact he said he was not sure how the swallowing fit in. What he said was most important was finding out the type of cause to formulate treatment options. Though I was frustrated, it did make sense to me.
Here is where he began speaking in terms that are a little different from what I am accustomed to (And if I was one of his medical students I would have been furiously taking notes with an outline labeled “A, B, C…”). He said that as far as muscle fatigue, weakness, and cramping goes there are basically three types of causes: autoimmune, metabolic, and inflammatory. I guess this is where my first set of questions comes in, and I’m probably appealing to someone with medical experience, or who has done a fair amount of research.
1. Does this framework contemplate ALS? I ask because the dr. was not really worried about ALS, and I was wondering which box he would put it in, or if it goes in a different box altogether.
2. If it does, which of the three types of causes would ALS fit into? I have heard thought that it might be autoimmune, though this seems to be more of a working hypothesis for a branch of research. The way I understand metabolism is that it deals with the release of energy on the cellular level. I ask this question because the dr. felt that the testing done before the U of U ruled out autoimmune causes (which is interesting because up until my consult, both my PCP and my local neuro mentioned it as a possibility). He also felt the EMG pointed away from metabolic causes, though he wanted to perform the biopsy to be sure.
3. Where does CIDP, peripheral neuropathy, and MG fit in this model? These have all been possibilities for me at some point, and I wanted to how the testing done so far fit in.
In the end Dr. Singleton felt that the best next steps were to perform a muscle biopsy (to rule out metabolic causes), and to have me see a rheumatologist. He reason was that he felt that my issues were likely to be related to an inflammatory cause. So I guess this is where my next set of questions comes in for those who have been referred to a rheumatologist as well as part of diagnosing their particular illness:
A. What types of inflammatory diseases are there that your rheum was looking for? I guess this is where I really get lost because I thought that rheumatologists dealt with connective tissue and immunology. Apparently, like in the case of CIDP, you can have inflammatory issues with the peripheral and central nervous system as well. Plus I thought that something like CIPD was considered to be both inflammatory and immune system related.
B. Do inflammatory diseases present with sensory symptoms like tingling and vibration? Gosh I hate to throw this in there, but what about twitching and fasciculation? (Laurel has already mentioned previously that CIDP is one that does).
If any can help me get this sorted out I would appreciate it.
Sorry for the long post. It just seems to be a crossroads moment for me right now, and we all know that unless you are actively involved in your health care you can twist in the wind for a long time.
Robert
