Waiting for answers.

[Waiting]

I’ve been reading the forum for about a month now. I just became a member last week. This is my first post. I am thankful for all the helpful information out there. I have read the stickies.
It started about 5 months ago with my husband (age 42) asking me if his arms look smaller. I honestly didn’t notice a difference. Then he noticed the grip strength (per dynamometer) of some of his elderly female patients was better than his. He went to his PCP to request a referral to a neurologist thinking it was maybe an impingement in his neck. The PCP did blood work and his CK level was elevated at 1200, but everything else was fine. The CK level was concerning for her so she did send him to a neurologist.
The neurologist did not perform a very thorough physical eval but did state that my husband appears to have some atrophy in his arms. He sent him for an MRI (head and neck), repeat lab, and a medication for muscle inflammation.
During a visit to the PCP, prior to the next neurologist visit, the MRI results were discussed. The MRI was negative but the justifying diagnosed for the MRI order was ALS. What? The PCP asked if the neurologist had discussed this, but he didn’t even bring it up. We were really thinking it was more of a neck problem. We are trying not to freak out and maybe he was just putting that down so the insurance would cover it.
During our second visit to the neurologist we learned that the CK level had come down some to 900. The neurologist did not do any kind of physical exam and stated that he doesn’t look like he has any atrophy even though he said just the opposite less than a month ago. He didn’t say anything about ALS until my husband brought it up. Then he asked if my husband wanted to do an EMG because that would confirm if he has ALS or not. My husband and I both know that you cannot confirm ALS with an EMG. Nothing else has even been considered yet. Why jump right in to ALS when there are so many other things it could be. Things that may even be treatable.
After that visit we were frustrated and scared. At that point I was starting to see my husband’s arms shrink. He feels a little weak but mostly just less strong if that makes sense? I mean he’s not laying around doing nothing. He works 40-50 hours per week. He plays the guitar with accuracy. Plays basketball every day outside in 100 degree heat for 20 minutes at a time. He has no pain but he is starting to feel some twitching (We hope that is anxiety). His legs are a little weaker but not as much as his arms and we don’t see the wasting in his legs like we do his arms. One day he brought home a dynamometer. He tested my grip strength. I’m a small person 4ft 11in and 120lbs. I tested at 65 on the right and 55 on the left. He is 5ft 9in and 190 lbs. He tested 45 on the right and 40 on the left. That was an alarming day.
We went to a new neurologist about 3 weeks ago. His physical exam was much more thorough. For part of the exam he had my husband take off his shirt and hold his arms out to his side. I nearly cried when I saw for the first time dents in both arms where his triceps used to be. The neurologist said he has upper body muscle atrophy, decreased strength to both upper and lower body, and brisk reflexes. He is suspicious that he may have something called Mytonia because when he flexes his leg muscles they don’t relax as fast as they should. He is also suspicious of myopathy. We asked about ALS but he isn’t as concerned about that because the wasting is too symmetrical. He wanted to do an EMG/NCS during our next visit.
The second visit was about a week ago. The NCS was normal. With the EMG he was able to rule out mytonia, but of the three regions he tested all were abnormal. In fact all areas tested in each region were abnormal. He didn’t test the bulbar region because my husband wasn’t having any problems with the bulbar area other than the brisk reflex. Now I wish we had asked him to do that region as well but at the time I didn’t know enough about the criteria for ALS to ask. At the end of the test he said he is now suspicious of inclusion body myositis and irritable myopathy but also cannot rule out the possibility of ALS. So….He did more lab focusing on some rare type of cancers, and myopathies. He has also ordered a muscle biopsy. He also mentioned doing genetic testing and a spinal tap at some point.
We met the surgeon yesterday and have the biopsy next Tuesday. I understand it can take 4-6 weeks for the biopsy to get back.
It seems like everything the Dr. is suspicious of can be physically devastating. The worst of course that he hasn’t been able to rule out ALS. My husband did have a second cousin with ALS. I know that these type diagnosis can take a year and a half to diagnose but why? Why can’t we just do all of the testing at once? I’m so tired of waiting. I’m ready to start accepting what is wrong and making whatever preparations need to be made or starting what treatment that may be available.
How much more testing can we expect? At this point how many things do we need to rule out? Any comments or suggestions would be helpful. I am sorry this is so long. Thank you for taking time to read it.

 

[Tokahfang]

The reason it takes time is because part of the diagnostic process is how fast, in what order, how symmetrically, etc things happen. My neuro described it as "the constellation of symptoms". Knowing what is damaged doesn't tell you how it was damaged, if that makes sense.

For instance, both someone with ALS and a traumatic SCI could describe their situation as legs totally paralyzed and atrophied with both UMN and LMN damage... but for the PALS it is an ongoing disease, the guy with a traumatic SCI got that same damage in one bad ski fall and two months lying around a hospital. The paralysis and atrophy is the same for each, but the PALS has a bad prognosis and the SCI gets to learn a new way to do things and go back to living his life.

On the other hand, if you look at someone with Duchenne's muscular dystrophy and ALS, they look very similar on the outside, they have similarly bad prognoses, they use the same powerchairs and other equipment, but the cause is radically different.

Some of teasing out the why's of the situation is just observation over time. I'm sorry. :/

In the meantime, please come back here with any practical questions your husband might have about how to get things done. We may not know what he has, but we do have a lot of advice about how to live with various levels of disability.

 

[Waiting]

Thanks for your response. It's nice to hear from someone who has been through this part of the process. The neurologist called last nigth to check on us. I understands our anxiety and frustration with the process. He offered to d familial genitic testing because of the cousin who had ALS we told him we didn't think that was necessary because It was a his mothers second cousin and he agreed that was likely to far back. He told us he tries to rule out everything before talking about ALS but unfortunately pandora's box was opened prematurely by the first neurologist we saw. We ALS gets in your mind it's hard to put it away. The neurologist reassured us that he is very hopeful that it is a Myopathy. We'll know more when the biopsy comes back.

Right now my husband has no real limitations. While he has lost a lot of muscle in his arms I think some of his other muscles are compensating for the ones that are wasting. He had trouble doing dishes a few days ago and has fallen playing basketball a couple of times, but that's about all.

Again thanks for responding. It's nice to have help from people who understand. I have talked to only a few friends but I'm not sure they really get why this is so frightening.

 

[HelenL]

I don't know which is worse; being told by the first neuro that I had ALS and then going through all the tests at an ALS specialist trying to figure out if she was right. (Unfortunately, she was) ...Or not knowing in the first place, with ALS on the table.

Sounds like it well be something else, so try to stay positive in your thinking. Good luck...

 

[notme]

You kind of answered your own question. There are so many things that have similar early symptoms--it's not fair to a patient to start with "ALS" when there are so many mimics.

A doctor with any kind of heart is going to rule out those other things before even mentioning ALS. The muscle biopsy should give you some conclusive answers, though.

Patience is hard, I know. Hang in there. Remember, it can only be ALS when it can't be anything else. He's still in the "Can be something else" place--which is good

 

[Waiting]

Thanks Helen L. We are hoping that it's something else. The Doctor sounded more positive last night too. I think it's a good sign that we haven't seen more changes over the past 5 months. How long did it take you to complete the diagnostic process?

 

[Waiting]

Thanks notme. I think I needed that validation that it doesn't seem fair to start out with ALS. I find my mind wandering from ALS to, it's probably someting else. So what you said, "It can only be ALS when it can't be anything else." I love this and will keep it with me.

 

[edwards5257]

Ive been told twice by two doctors , one an ALS specialist NO ALS! I am trying HARD to believe but it is tough. VERY tough. But too many people on here (and my specialists, one being an ALS/muscular specialist) have told me no. So, keep up those positive thoughts IF you can!

 

[Grateful]

Waiting,

it can be very, very hard, particularly when some idiot doctor acting well above his pay grade mentions a terrifying disease long before there are clinical indications that would even begin to support a possible diagnosis of ALS.

The plus point is that you've found this forum which has a bunch of hugely well informed people who reach out to others to help them.

Admittedly we can be terse with trolls, but since you are not a troll that isn't a problem!

Keep being positive, and remember that it isn't ALS until it can't be anything else. Good luck!

 

[panguinjen]

Waiting,
It took us over a year to get a Di ag no sis... We had checks by dentists, oral surgeons, ear, nose and throat, internists, neurologists (who finally referred to UCSF), our primary care, speech pathologists... Swallow tests, ekgs, MRI, X-rays you name it. We did not hear ALS until the month before the formal announcement after an EMG was scheduled. This was the farthest thing from our minds....even when I did the dreaded search, we didn't believe it....it just couldn't be, ALS was too rare! We lived a humdrum life and this was so far from our idea of what could be wrong. As others have said, it can only be ALS wHen it's not anything else. Stay positive!

Jen

 

[edwards5257]

panquinjen-that scares the heck out of me, nothing I can do or be done, but I agree, it seems so rare and I have been assured I don't have ALS. Did you ever have any EMG's /NCV's done before the year was up? They say this is the standard test for knowing. I can accept the weakness throughout (for the most part) but the weakness in throat, mouth, numbness of tongue, neck, swallowing (although I haven't choked yet) and no hoarseness or sounding like I am drunk so far. Anyway, I need to let it go, but thought I would ask. Yes, I know it can't be ALS until it can't be anything else, I keep reminding myself of that also.
THANKS!
--and I have seen a neuromuscular specialist just last week

 

[panguinjen]

Edward,
That was the last thing done...after we explored every other option possible...symptoms became noticeable in 5/10, we knew 9/11....never ever occurred to us... Please, go live in spite of what you may or may not have! Worrying changes nothing and you are short changing your loved ones!

Jen

 

[edwards5257]

THANKS Jen, you are right, I know that, and I appreciate your response tonight!

 

[HelenL]

Hi Waiting, I was diagnosed with ALS at my second visit, after a preliminary EMG and MRIs... think it was my second visit, and I had totally refused to even look at ALS online, since I was convinced it was something else. So I spent the next 6-9 months going to an ALS specialist who said that if it weren't for the EMG already done, he would not have diagnosed it based on my appearance. He did more intensive EMGs and a spinal and xrays before I finally accepted the fact. The irony is that I've had problems in the ankle/foot that it started in for more than 10 years so kept thinking it was more of the same, not that ALS started in the same spot.

 

[Waiting]

Thanks Jen.

We have gotten past the MRI, blood work, and EMG. The biopsy is Tuesday. I imagine he may to do a spinal tap and genitic testings at some point and likely another EMG to check for progress and maybe to check the bulbar region around the end of the year. So maybe we are getting closer to an answer. I try to live one day at a time but I find that I am mentally trying to hurry the days past in order to get to the next appointment, test or procedure. Slowing myself down is hard. We have two young children and I feel guilty that I'm am trying to rush though life these last few months.

When the first Dr. mentioned ALS it was frightening because we both work in health care and have taken care of ALS patients and know how it progresses. But there I go with ALS again. I have to constantly remind myself that the Dr thinks it may very well be something else. The thought is just to scarry to ignore. It's like if someone told you they think a stranger is standing at your back door.