Still undiagnosed, Neuro appt today

[AndyDJX]

Hello everyone,

I thought I would post an update, as I know there are many of us on the "Do I Have ALS" section of the boards who share similar symptoms that perplex our doctors (and ourselves!) and it's nice to try to help each other in our quest for answers. And sometimes it's just good to know we're not alone.

Super-quick recap on my case: started having fasiculations 4 years ago, atrophy in my thenar muscle presented 3 years ago, symptoms such as tremors, fatigue and exertional weakness have continued (and gotten worse) since then. I had one "borderline normal" EMG a year ago that showed some slow nerve conduction in my left elbow as well as fasiculations, but nothing else.

Health background: Had lymphoma cancer at age 12, received radiation to the chest/spine and chemo, take levoxyl as thyroid replacement, got a compression fracture in my spine about a month before my symptoms began. Diagnosed with osteopenia in lower back.

The bottom line is I don't think I have ALS and neither do my doctors, but I'm concerned that my neuro-muscular symptoms have persisted for four years and continue to get very slowly but undeniable worse, from the muscle shaking to the tongue twitching. I'm only 29, and any signs of progression really bother me.

I made an appointment today to speak with doctor because I haven't followed up in over a year. Mentally, I am doing so much better than I was when these symptoms first showed up, I just wish that I could say the same for my physical self. But, focusing on the positive, the progression hasn't been so dramatic that I have permanently lost any functions either. Typically, I will lose my ability to use certain muscles after I significantly exert them, but their function always returns.

I want to follow up with doctors because if this isn't ALS, which everyone seems to be in agreement on, that means there's hope to treat it. The problem is obviously that we don't know what "it" is, and I want to be a little bit more pro-active in figuring that out. "No ALS" are two amazing words to hear from a doctor, but "No ALS...bye" can be frustrating.

I was fine with accepting a "who knows" diagnosis when things seemed to have plateaued, but the slow yet persistently progressing symptoms are bothersome. I'll let you guys know what she has to say!

Best,

Andy

 

[Blizna]

Andy, you know I am the same boat. Even the 4 years ago start fits me! And I too have (very mild) atrophy of thenar muscle. However, I cannot say whether or not there is a progression at all but as I started to get these tongue twitches, I think something is going on.
Best luck on your exam!

 

[trfogey]

Andy and Blizna,

I would trade my definite and rapid progression (which is slow by PALS standards) and my loss of functionality (that never returns, once gone) for your ambiguity in a nanosecond. It is far better to be frustrated because you don't know than to be grieving because you do know.

To put things in better perspective for you, the average lifespan of a PALS after the onset of the first symptoms is between 28 and 34 months, depending on the study you look at. That means the average PALS goes from a person with a minor disability that he pointed out to his family practice doctor to stone cold dead in two and a half years, give or take a couple of months. Fully half of PALS are deceased at the three year mark and, at the four year mark, that number climbs to about 80 percent. At the five-year mark, the number is 90 percent.

ALS progresses and it progresses systematically. Small muscles fail fast; large muscles fail slower. But they do all fail, with the exception of a few. They fail and they don't come back. That's ALS. Not twitching. Not cramps. Muscle failure -- complete and permanent.

By all means, keep following up with your doctors. It is better to have certainty than to be uncertain. But where there is uncertainty, you can look at probability and no knowledgeable bookmaker would offer any kind of odds that either of you have ALS.

I wish a doctor would say to me "No ALS... bye."

 

[AndyDJX]

Well, the report is certainly good. The doctor said I could completely cross ALS off the list, even used the term "definitely" not ALS. She didn't want to do a follow up EMG, and she said that every time she sees me, I look better not worse.

My only issue is that she was dismissive and didn't even do basic strength tests. Every symptom I have, she more or less wrote off as normal, even though I know my body and know that what my muscles are going through is not "normal."

She offered me a prescription to control the twitching, but I turned it down. I really don't need any more pharmaceuticals to control a symptom that isn't even what bothers me.

She acknowledged the big ridge in my thenar muscle, but said it wasn't "true atrophy" because the EMG didn't show any dennervation. That's obviously great news, but she didn't have any insight into what would cause non-stop fasiculations for months, only to stop twitching and leave a chunk out of my muscle in its wake.

She did take some blood to check my electrolytes, vitamin D and thyroid function.

She's leaving the neuromuscular diagnosis center this year, and will be focusing on movement disorders at the hospital. I really like her as a person, and love that she tells me I'm fine, but I may return to the same center and see a new doctor in a year if things are worse.

In the mean time, I will take comfort in the reassurance she gave me today and continue living my life trying not to think of my problematic muscles as much humanly possible.

 

[AndyDJX]

Hi Trfogey,

Believe me, I am incredibly thankful for the position I'm in, knowing that it could be worse. The relativity of health issues has been super apparent to me since I was in Junior High. I was the sickly looking bald kid walking the halls, thinking I would do anything to trade places with my peers who only had minor or no health problems to worry about. But then I'd go into the hospital and get chemo next to a toddler who had brain tumors, and I'd realize how lucky I was. Everyone has something they would change, and everyone has something to be grateful for that someone else wants.

I don't think that I have ALS, for all of the reasons you mentioned and more. But I am concerned about the fact that over the past four years, the health and ability of my muscles has decreased significantly, and there are symptoms that continue to affect them every day. My concern is that even at this very slow trajectory, I will be in much worse shape by the time I'm 40. If there's anything that can be done to avoid that, I want to figure it out with my doctors. That being said, I would never trade a doctor saying "we don't know what it is" for "we know what it is, and it's (insert insidious condition here.)"

 

[AndyDJX]

Blizna,

you should know that the doctor was completely unphased by my videos of my twitching tongue. She said a tongue that is being affected by bulbar als looks more like a bag of worms with significant undulating, as opposed to the flickers and pulls that could be seen on mine.

 

[trfogey]

Andy,

I know that for the most part, you don't worry about having ALS. But you do realize that your (and Blizna's) presence here after more than four years of symptoms and a long series of reassurances by doctors that you don't have ALS could be construed by the newer and less knowledgeable readers here that even four years without appreciable progression isn't enough to be reassured about your symptoms.

Those are the readers I worry about when I see a post like yours and they are the ones I was really speaking to when I laid out the statistics in my last post. They can read your past posts and Blizna's past posts and see how knowledgeable the two of you are, but even with all that knowledge, all the reassurances from your doctors, and the passage of a length of time with those symptoms that 80 percent of people who get an ALS diagnosis would never survive, you still have doubts.

Your journey along the neurological diagnostic path began four years ago. So did mine. You haven't yet received an ALS diagnosis. I did. Let's compare notes.

Your journey began with fasciculations. Mine began with minor weakness in my thumb that kept me from buttoning a cuff button. I had visible atrophy and paralysis in my thenar muscle within three months and visible atrophy in the forearm muscles of that arm within six months. I lost the ability to type with the little finger of that hand at the nine month mark, followed by the loss of control of the index finger at about the one year mark. By the eighteen month mark, I was unable to type with two hands at all, as I only had partial control of one finger and my wrist was too weak to support the weight of my hand. I had to use a wrist brace to be able to hold a telephone handset or a cellphone in my hand.

Fast forward to today. I have no use of either arm and haven't fed myself the smallest bite of food in a year, even though I have no bulbar symptoms and can eat and drink anything I want to. In the past six months, the muscles in one leg have weakened to the point that I can no longer stand or walk. I use a BiPAP mask and machine 24/7 and have for over a year.

Why is my story important? Because I am one of the slowest 20 percent of ALS progressors according to the ALS Functional Rating Scale statistics and the mortality charts. I beat 4 to 1 odds just to live long enough to type this post, much less have the functions that I still have.

We entered the diagnostic process at the same time, Andy, but we've ended up at far different points physically while still being participants on this forum. That's the perspective our newbies and our future readers (along with some of our longer term readers) need to see, and I thank you for providing a platform for me to put it out.

 

[Blizna]

trfogey:
You are right and I do understand how PALS must feel when reading our "moaning" posts that repeat each year or so. The thing is that quite a lot of people searched even years for diagnosis which is what scares most of us undiagnosed. Also the very mild progression is something that one just cannot overlook.
I agree that starting with pure fasciculations years ago makes ALS nearly impossible. Just the frustration and uncertainty about the future (is it something? will it develop into something worse?...) is sometimes terrible, at least for me in the age of 25.

 

[Zaphoon]

tr,

I appreciate the way in which you described above how devastatingly fast and permanent the damage occurs to muscles in ALS.

That post should serve as great comfort to anyone experiencing twitches, cramps, spasms, tongue twitching, toe twitching and what-have-you not having suffered any permanent weakness, atrophy, loss of movement, loss of speech, the ability to eat, drink or breath (especially after several years of said twitches, cramps, spasms, tongue twitching, toe twiching and what-have-you).

I agree with your reasoning regarding taking the not knowing over a definite diagnosis of something as terrible and relentless as ALS.

Keep up the encouraging words, my friend!

 

[Gusflower]

Great post trfogey.