Update from "Undiagnosed Predicament" guy.

[AndyDJX]

Hey friends—as some of you know, this summer I decided to become more pro-active in figuring out what’s been causing my ongoing neuro and neuromuscular issues. An ALS specialist told me that it wasn’t ALS, an assessment I very happily agreed with, but I was concerned with the fact that my problems were nonetheless progressing. I figured if it’s NOT motor neuron disease, then perhaps there was a chance to treat it. I went to my PCP and asked to start from square one. She identified what she called “definite atrophy” and witnessed a large amount of abnormal cramping and fasciculations in my body. She sent me to a new neuro, who I was really not a fan of. She seemed dismissive, argumentative and even at times insulting. But she wanted to perform an EMG and take it from there, and I agreed.

So I had my first EMG in two years this week, and I’m very happy to say it was clear. She tested my left leg, my right hand, and both of my arms. She didn't test my mouth or my left foot, both of which have been giving me the most trouble recently, but after five years of symptoms, I’m positive that something like ALS would have shown up elsewhere in my body. And really, after this much time, I’m sure ALS would be apparent enough clinically that I wouldn’t even need an EMG to tell me what was up. Besides, my right arm and hand give me plenty of trouble as well, so it’s not like she only tested areas that I didn’t think were problematic. Part of me wishes she had seen something that would provide insight into what has been causing my problems, but I will never, ever, complain about a clean EMG. I feel very fortunate in that regard.

But I seem to be at another dead end with this doc. She wants to follow up with me in 6 months, but she can’t think of anything that would be causing my symptoms. Her suggestions of getting a good night’s rest show her lack of understanding of my condition. If only it was that easy. She also didn’t agree with my PCP’s assessment of my “atrophy” because she said it would have shown up in an EMG if it was really atrophy. It makes logical sense, but I still don’t know what happened to a chunk of my thenar muscle. All of this is very similar to what the ALS specialist had told me in 09 and 10.

I really don’t know what to do next. I've been laying low on these forums and I will continue to do so, because if I don’t think I have ALS, and my doctors don’t think I have ALS, there’s really no reason for me to be on here. Do you think I can find a forum for ambiguous and diagnostically elusive neuromuscular conditions? Ha, I’m sure a place like that would be filled with nutjobs...which is probably what this latest doc thinks I am.

Any newbies coming across my story can feel free to PM me if I can be of any help. There are a lot of folks out there who think that tons of fasiculations means it’s either BFS or ALS. I’m definitely an example of someone who has something worse than BFS, but nowhere near ALS. It’s not one or the other.

Anyways, my thoughts are with everyone on here. I sincerely thank you for your help. I won't be a total stranger, and I'll let you know if I get any answers.

Andy

 

[Alyoop]

Andy, you have just joined, or maybe I should say, have finally accepted your membership into the " what do I have club". It's actually got lots of active members here on the forum. Your travels through the medical establishment, puts you in a good position to be helpful and supportive to others in a similar predicament. The fear, frustration and eventual acceptance of your neurologically, undiagnosed syndrome, puts you in a unique position. It gets better from where you are. Believe me! I am at 4 years since the journey began, and frustratingly, it took 2 years before my symptoms were finally supported clinically, not that any definite answers came out of it, just a strong lead in the MND direction.
Hang about and help people. You are a good guy, I enjoy your company.

As for where to go. Easy, live to your fullest potential every minute, return for your 6 monthly or annual review as suggested and get checked out should any new or alarming progression occur. Mean while do your darndest to support people living with the horror of ALS, do the walks, do all that you can, now that you have a rather intimate relationship with the disease. It's helped me

Bless you Aly

 

[kmendsley]

Hi Andy,
I hear ya and if I hear another dr. tell me lets wait '3 months...6 months..." or " you must be working too hard get more sleep" I think I might try to deck them...if there wasn't the great possibility that I would fall over from the extreme change in body motion..or it would be such a slow and shaky punch ....they would deck out of the way in plently of time

In regards to a possibility of another website...I have looked...and there are none compared to this site. One you could try is m e d h e l p where a dr. would give you insight for free. Don't try 'j u s t a n s w e r it is a scam..as I found out $ 45 later. The other ones are just frustrating with undiagnosed people pleading for help and stupid people replying sarcastically to their posts. You will most likely find the most support here.

I am here for you if you want to PM me your frustrations or anything. The Undiagnosed boat is not a good one to be in...but neither is the ALS one either. I encourage you to keep researching and fighting. I tried to take a break and hoped someone would notice...the only thing that brought me was a hospital visit and having to be brought back to life. Don't waste time during the 6 months...do your research and rule out what you can.

Obviously you are not a dr. so keep that in mind...and try not to go crazy with all the possibilites but maybe you can at least get more of a handle on it and 'suggest' certain testing for the drs. As I have learned, medical is far from perfect. If you would like to check out a good portion of neuromuscular disorders with definitions and such look at National Institutes of Health. It may be crazy, but for myself so I don't go crazy, I have copied all of the list on a word doc. and day by day go through about 10 of them in symptoms and stuff. If it doesn't describe me at all I erase it from the list. If it does a little I color the link green, some -color yellow, and if it has all of my symptoms I color the link red. Do whatever you like with this...may help you may not. just a suggestion.

Anyway...best of luck. Thoughts are with you.
_Kel

 

[awieleba]

andy,

I understand your predicament. I am almost 4 years into this. I switched from an ALS clinic to a MDA clinic, and the doctor that I saw also heads up the ALS clinic there. He thinks/suspects a form of Mitchochondrial, and we will see what genetic lab work says.....I am not holding my breath. But, it seems to fit as it is more of a muscle fatigue than true weakness. I also have atrophy confirmed from Rhuemy in hands and shin and only shin by ALS doc but since all my emgs were clean in those areas they are not sure. I will let you know what I find out but I understand your concerns all too well. It is a strange thing to have muscles 'shrink' without knowing why, I am able to function but not able to do the real strenous things I use to.

 

[Kitchener]

Andy
Roughly 8 months ago I was diagnosed with motor neurone disease by an eminent neurologist after MRI & EMG. My symptoms were close to yours - fasciculation in the arms (especially right), minor cramping and weakness in the right hand with possibly some associated muscle loss. He was good enough to refer me for a second opinion, for which I underwent a spinal tap and another olympic standard EMG. My second neuro wasn't so sure about the ALS, and decided to treat me for multi-focal motor neuropathy (MMN). This involves regular intravenous infusions of immunoglobulin. Eight months down the track I have no further detectable loss of function, although the fasciculations have spread to the legs and abdomen, and I have graduated to occasional tremor in the right hand (watching the middle finger wag uncontrollably from time to time is curious to say the least). Other than that I can't complain - still running, lifting heavier weights (probably to prove it isn't really ALS) and working as normal. The weakness in the hand hasn't improved much if any (doc says it probably won't), but my overall arm strength definitely has. I still haven't got the "all clear" on ALS from the second neuro, but I'm hoping this is the natural conservatism of the medical profession - I will arm-wrestle her for one when I next see her in January. Check out MMN as a possible for you (it is treatable) and good luck.

 

[Kathylund]

Hi andy, I hear ya! I to got 100% cleared of als in Boston at the ALS clinic, I don't have Als but these symptoms are driving me crazy. I have atrotphy in my leg that is getting continually worse and problems with my tongue. I feel the same way, just give me some kind of a answer instead of throwing up there hands. This might sound a little crazy, but now when I go into dr offices or if they call me with results I have a little recorder, for me this helps because I can go back and listen and I never miss a thing. I know the whole thing is frustrating but hang in there!