Frustrated: More questions than answers

[Naeco]

Hi,

I'm new to the group and was hoping to get some of your thoughts on the stuff that I've been going through recently. Sorry if this seems a bit lengthy before it starts to relate to ALS but just wanted to give the whole history because it seems to be happening in a chain of events.

About 6 years ago I went to the doctor with really bad fatigue whenever I tried to exercise and could only run for about 5 minutes before I felt like I was going to collapse. He did some blood work and everything turned up fine and he really didn't seem all that concerned about it so I wasn't either. The symptoms persisted for about 6-8 months and started to get more manageable over time but never completely went away.

Then in January of this year I had to have my appendix removed and I've never fully recovered because of various symptoms that my doctors seem to think are related to some type of autoimmune disorder that they haven't been able to isolate (negative for Crones and similar disorders) but the symptoms have been getting worse each month with stomach and hand infections and now the muscle fatigue that I had 6 years ago has come back worse than ever.

I had been seeing an Endocrinologist recently because I have Type 1 diabetes and the infections have really taken a toll on what used to be very well controlled diabetes. She said she's done all of the blood work in her area and the only thing that turned up was a Vitamin D deficiency - but she also said it might be caused by some type of autoimmune disorder that she thinks that I have (she's mentioned MS, RA, ALS and Lupus by name although so said I was missing some key symptoms with each of them). So when I had my appointment with her last week my symptoms had really escalated and I was having crippling fatigue where I could barely walk up the stairs and even walking across the room makes me collapse on the couch and breathing very heavy. I usually don't have any headaches but I've been waking up with them almost every morning ever since the severe symptoms started. My speech has become really slurred and I can't pronounce certain syllables anymore without people looking at my funny. My muscles have gotten to a point where they're sore for days after doing routine things like walking up and down the stairs several times. I've also become very off balanced and need to hold onto things when I change directions while walking. My Endocrinologist recommended that I see a neurologist and it got me really scared because I had looked up some of the symptoms of the autoimmune disorders she had mentioned in the past and it seemed like things were starting to point toward ALS. The only symptoms I don't have are the problems with swallowing.

So I went to the neurologist this morning and it was one of the strangest appointments that I've ever had. I told her what the Endo had told me about possibly having an autoimmune disorder and recommending that I see a Neuro and she looks at me like I'm crazy and says that she doesn't know why I'm coming to her if I have an Autoimmune disorder and so I felt really dumb and told her that ALS had been mentioned as a possibility and she laughed and said that ALS patients don't look like me and I wouldn't be walking in on my own if I had ALS. I was at a loss for words and didn't really know what to do because the symptoms have been so severe and I don't know where to turn next. So I basically just said that I would appreciate if she could take the tests just so that we could rule out the possibility and she just told me that she was the specialist and I don't have ALS. So all these things are going through my head because I'm barely able to work and I've had to strongly consider going in disability (after not taking a sick day in 9 years) in the last couple weeks because of the severe affect the symptoms are having on my ability to perform normal tasks at work and yet my doctor is laughing off the symptoms - as if I'm joking. So I asked her one last time if she could test for ALS and she said "fine but I'm writing that it's the patients request - not mine".

I don't know if the doctor had that reaction because I'm 31 years old and have always had an athletic build but that seems extremely short sighting to say that I "don't look like I have ALS" I've lost 10 pounds in the last 2 weeks and my arms and legs have lost much of the muscle tone but it still doesn't come close to matching the weakness that I'm going through.

Now I'm worried that if I go through with the tests, my insurance might not cover it because the paperwork says that it's at my own request. I know ALS is very rare but is this normal to have this type of reaction from the doctor? Please believe me I have a 2yr old son and ALS is not something that I want to think about but I'm also at a point where I've taken 8 months of tests and blood work and have only been left with more questions then answers. I don't know where to turn next.

Sincerely,
John

 

[miss91]

Hi John, I'm sorry for all of your stress, I am not diagnosed with anything at this point but I know exactly how you feel! I do not understand why doctors want to write so many of us off as having "anxiety" when in fact we do have something serious going on. Of COURSE we have anxiety!
I hope your insurance would cover the EMG. If you are concerned about neurological things, it only makes sense to do an EMG, and that should've been your doctor's call. One thing I have learned is, you have to push your doctors for what you feel you need. I do think the fact that we are in our 30's dissuades them from thinking we have something serious, but they need to listen. We know ourselves and when something is wrong. Keep on with your doctor, and if you need to find another, do it.
I also lost 10 lbs. in 2 weeks. I was very sick. I'm continuing to have neurological problems, but I've managed to find my appetite and gain it all back. When is your EMG?

 

[Naeco]

Thanks. Yeah it really does seem like the age plays a role. I've always hear the same thing about being a diabetic - people always say that I don't look like a diabetic. Even doctors and nurses have told me that. It seems strange that people would make such a judgement on such shortsightedness but when this doctor tried to make a diagnosis based on that, it was extremely discouraging.

It looks like my EMG is on Sept 10th and I'm also scheduled for something called a SDEEG and more blood work. I don't really know what any of these tests mean. Are any of them conclusive?

 

[miss91]

Hi John, I'm new at all this (problems since May)....I have had 2 EMG's myself and both came back "clean". I will continue to have these. I am not familiar with the SDEEG. I have had a TON of bloodwork - they will probably test you for Lyme's, inflammation, CPK level, potassium, etc.....I have seen 2 neuros, one at Mayo, and I still do not know what is wrong with me. Don't let that discourage you, though...just keep going.

 

[GlenBrittle]

John,

It just pissed me off that the doctor didn't seem to take you seriously. "If its not ALS then what the hell is it" would have been my smartass remark.

From my experiences so far, you have some familiar symptoms. Some that I remember from before I was diagnosed with ALS.

Your current weight loss could be from the stress and anxiety you are feeling. I lost 15 in two weeks when I was diagnosed. I have since regained that weight (and then some).

Now , the weakness , constant fatigue , no stamina , reminds me of me , 8 years ago. Everything tested negative. I'm healthy as a horse .

Do you snore at night ? Has it been a long time since having a dream ? Can you fall asleep in less than 2 minutes ?
If you can answer YES to any of those questions , ask your GP about a sleep test.

I have had sleep apnea for 7.5 yrs now. Its amazing how much you can get run down without good sleep.

wish I could help ya.

Glen

 

[Naeco]

Thank you both for the encouragement. I was really pissed after the appointment and kinda felt like a fool for even going to the appt in the first place but I really need to get this figured out. It's kind of Ironic because when I had my appendix removed earlier this year the doctor told me I'm the type of person that walks in needing emergency surgery because I ignore the symptoms for too long. But these symptoms have been way too much to ignore - I'm actually really worried about how I can continue working if these symptoms contiunue. I've been getting muscle cramps in my hands and forearms just from typing today.

I looked up the SDEEG test that my doctor signed me up for and it's actually for sleep disorders like you were saying. I did have problems with Night Terrors in the past and it made me feel tired during the day but it was nothing compared to this. When I had the sleep disorder I found that if I ate right before going to sleep I would have the Night Terrors so I stopped doing that and the sleep disorder went away. But your right about how it can affect you but this recent fatigue has been almost totally crippling. There were two days last week where I needed to lay completely flat on the ground or else my muscles would be sore from having to support my arms or legs. It's obviously not that bad today but I still get short of breath from walking in my house from one room to the next and my knees start to buckle when I first try to stand up - no pain in the joints though - it's like the muscles can't support the weight even thought I only weigh 200 lbs. I really hope things get better soon. I'm very thankful that I've been able to work from home through all of this but it's almost becoming too much even for that.

 

[Zaphoon]

You said the doctor laughed and then told you that you didn't look like a person with ALS and that a person with ALS wouldn't have been able to walk in to the office.

Baloney! Baloney baloney baloney!

This just ticks me off when I hear a report that a neurologist is speaking like this. Look, PLS, MS, ALS, whatever, has to have a starting point. In the early stages of a disease such as those just listed, a person can "look" fine but have real issues. A neuro I saw last year told me I didn't look sick. Okay, but why the heck are my muscles so tight and crampy? Why are my reflexes hyper and why the Babinski?

I know... blah, blah, blah.

My point is this: All motor neuron diseases have a starting point from which they progress. You don't get ALS on Monday and then by Tuesday become quadripalegic and mute. Stupid doctor! Stupid, stupid, stupid doctor!

Get an appointment with a different doctor is my advice!

Zaphoon
(I'm usually very nice to doctors...)

 

[miss91]

I'm sorry you are having these issues, but glad I'm not the only one. I'm sitting here with foot/ankle/lower leg atrophy, my finger is twitching and moving by itself, I have fascics and other annoyances, and I think back to my first neuro in June, who told me, "You have BFS, you are fine". I remember saying "But MY FOOT!" referring to the obvious thinning that had his nurse VERY concerned (she said, wow - I hope you get answers for that)........and he just shrugged. BFS doesn't change a person's foot.
I had NO idea doctors didn't at least care or try to do their job enough to find out what's wrong with the patient sitting in front of them. I think if they did, they'd save us a lot of stress and heartache. Even if they can't cure us, at least take us seriously, help us find out what's wrong.
I know there are plenty of good doctors out there, but I've had my share of rude ones this summer.
John, have you had fascics and cramping?

 

[Naeco]

Glen,

Did you have symptoms for several years before it showed up on the tests? I can't imagine going through this and not even having it register on a test. Not that anyone would want to hear something like that but in many ways I think it would help just to know what you're up against. That would be very difficult.

I started looking for a diff doctor after reading some of the comments but it's hard to go backwards and start over with another initial consultation in another month or so, given all the problems that I'm having. But I guess it's always better to start that now instead of later.

Thanks for your help.

John

 

[wright]

Hey John

Very sorry you have to be here. I want to say that in my opinion, your story does not sound like ALS. It doesn't really sound like you have muscle weakness . . . but rather . . . muscle fatigue, which is different than muscle weakness.

After reading your entire story, it sure sounds like it could be some kind of a mitochondrial disorder / myopathy. The cause of these disorders aren't entirely known but it's speculated that infections, adverse effects to some drugs and severe trauma could cause them (among a few other things). The reason I mentioned those three is because you said you recently had a surgery to remove your appendix, which tells me that it might have been infected, you were more than likely on some post-operative drugs and certainly surgery causes trauma. You also said that you are a type 1 diabetic and have had these symptoms in the past . . . and certainly type 1 diabetes can put quite a toll on the body.

An autoimmune disorder should also be left on the table. Sometimes these disorders can escape detection and can wreak havoc on the body. By the way, ALS is not thought to be an autoimmune disorder.

I think you should get the EMG with your current neuro (even though he/she doesn't sound very attentive or compassionate). It could shed some light on your condition.

Keep your head up and let us know if we can be of any further help.

 

[Naeco]

Thank you so much wright! I hadn't really thought about that. But it's hard to tell if it's fatigue or weakness because it's almost like the chicken and the egg scenario. Or maybe I'm having trouble seperating the two. For example when I'm washing the dishes sometimes I need to lean my elbows against the sink for support. I feel like I need support because I don't feel like I have enough strength in my legs to hold myself up but at the same time I feel like I'm going to collapse from the fatigue. I'm probably just thinking too much into this.

Thanks for the advice and I'll be sure to go to the EMG test and try to get more answers.

God Bless!

John

 

[joelc]

John, if it was weakness you would not be able to do those things. It would not be a case of being able and then fatigue steps in and you have to rest. When you have ALS weakness happens slowly, and gradually, over time and you can't do the things you used to. I hope that makes sense.

 

[Naeco]

Hey miss91,

I've had fascics in the past but not since the symptoms got more severe. The muscle cramping is getting pretty bad though, unfortunately. I've even been getting them around my jaw when I eat.

 

[Naeco]

That does make sense, thank you joel! This is deff fatigue then.... because it's not gradual at all. This is very good news. I'm starting to question all of the syptoms now because they might be more of a result of something else rather than the actual cause.

Thank you all for yoiur comments. You have such great courage to help others with their symptoms even while dealing with your own.

God bless!

John

 

[GlenBrittle]

Glen,

Did you have symptoms for several years before it showed up on the tests? I can't imagine going through this and not even having it register on a test. Not that anyone would want to hear something like that but in many ways I think it would help just to know what you're up against. That would be very difficult.

I started looking for a diff doctor after reading some of the comments but it's hard to go backwards and start over with another initial consultation in another month or so, given all the problems that I'm having. But I guess it's always better to start that now instead of later.

Thanks for your help.

John

Hey John,

I had the twitches , though only once in a while , since I was a teenager. I never had it tested , just found it cool to watch .

The weakness, in my left ankle was about 16 months before I was finally diagnosed.

Glen