Old 11-23-2012, 10:52 AM #1 (permalink)
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Default Neuromuscular Disease. Need some help understanding.

Hi. My name is Leni and I'm writing b/c I'm the relative of someone with NMD-this is my first post. I've been helping my relative with doctor visits. Her husband and I are both a bit confused about the "diagnosis" and the information from the doctor. I found interesting the fact that everything was vague and was wondering if that is always the case. For example, if Doctors don't like speculate on this disease or how it would evolve. Just seeking your advice in terms of what to ask or do moving forward.

My cousin is 41 y/old and was just told that she has neuromuscular disease based on her EMG, lab work, MRI, etc. She started with symptoms in May of 2012 and her doctor in Puerto Rico, suggested she visited Dr. Mitsumoto in NYC. I attended her appointment with Dr. H. Mitsumoto in NY Presbyterian. His words were "there is nothing against a diagnosis of neuromuscular disease, but nothing that can confirm it" (very confusing I know). He suggested that she take Rilutek if her insurance covers it, and that there is a new promising drug maybe coming in 1 year.

He basically told her to "work around" her weakness. I asked if it was ALS, and he said that she had "touches" of ALS, that her disease was in the early stages and they will need to continue to monitor her.

He did talk about this being a degenerative disease but how it progressed would depend from person to person. He did not talk about what she could expect in terms of her quality of life, etc, he kind of avoided that discussion.

Is this the normal discussion with a Dr at this stage of the disease? If is not ALS, why Rilutek that is indicated for ALS. Is it truly not ALS or is it the early stages of ALS?

Any guidance , any thoughts will be really appreciate it. If for some reason, I'm posting in the wrong thread, my apologies and please direct me to right one.

Thanks in advance,
Leni
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Old 11-23-2012, 09:31 PM #2 (permalink)
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Default Re: Neuromuscular Disease. Need some help understanding.

Wow, neuromuscular disease is such a broad, catch-all label. It really could be anything from a motor neuron problem to a muscle problem, or anything in between. Did they say why they felt there were "touches of ALS"? Did the EMG findings support that? I've been working to get diagnosed for my own "neuromuscular disease" for 9 months now so I definitely understand the frustration of not knowing what's going on. I can't speak to why they prescribed Rilozol, as I'm not on that drug and it isn't indicated unless someone actually has ALS / motor neuron disease, as I understand, but I'm sure someone else can jump in and speak to that question. I'm sorry you and your family are going through this. I know you'll get helpful information and support here, no matter what the diagnosis turns out to be, and I wish you the best.
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Old 11-23-2012, 09:55 PM #3 (permalink)
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Default Re: Neuromuscular Disease. Need some help understanding.

Hello and welcome-
Hello Leni and welcome,

Your cousin's story sounds odd to me (my early diagnosis was not vague at all). Is there any way you can get EMG test results? If so, you can send a message to Wright- our forum's knowledgeable EMG expert. Go onto his profile page and post your question. Failing that, if I were your cousin, I would absolutely seek a second opinion at a different hospital. I live in Canada, but I think Mayo in Jacksonville is the closest to you, and I've read it's a wonderful place.

Good luck to you and your cousin and her family.
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Old 11-24-2012, 05:44 PM #4 (permalink)
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Default Re: Neuromuscular Disease. Need some help understanding.

Leni,
I would recommend Johns Hopkins in Baltimore MD. It has been no 1 in neurology for a long time.

Good luck to your relative on her quest for answers.
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