I thought I had ALS for two years

[Sunvista]

After experiencing slurred speech, excess saliva, jaw tension and swallowing problems for several months I went to a neurologist who prescribed Mestinon for Myasthenias Gravas. It didn't work so she ordered blood work, did a rudimentary EMG, ruled it bulbar onset ALS and referred me to Johns Hopkins neurology. The neurologist at JH reviewed the data (blood markers, EMG, MRI etc) and concurred with my local doctors assessment. Meanwhile my speech has continued to deteriorate so I proceeded with the VA route for support since I am a vet. After several months I got an appointment with an ALS clinic at the VA. The neurologist there (who seemed very sharp) did a very extensive and comprehensive EMG and could find not a trace of evidence I have ALS related nerve or muscle atrophy unless it is progressing at a glacial pace.

I should be happy but this has affected my life immeasurably as I have sold off rental property I didn't think I could manage and my wife quit her job to prepare her for caretaker status. The VA was about to provide a HISA grant to make my house ADA compliant. Plus I'm taking Riluzole, Clonazepam and Amitriptiline, some of which seems to be helping my symptoms but could be very toxic as well if I don't need it.

I'm really bewildered now as I have a serious condition that nobody can accurately diagnose. Has anyone here gone though anything like this and could provide some insight. I don't know where to go from here? Seems insane but I wonder if I should stop the Rilazole and see if the progression accelerates.

 

[Nikki J]

Who prescribed riluzole? All the people you mentioned ruled it out? Did anyone give you a clue what their thoughts were besides not ALS? Does anyone have a plan or at least a commitment to follow you? It does seem there are some people who genuinely have serious undiagnosed issues. Since you are in the VA system if the specialist was truly flummoxed ask about the program for undiagnosed diseases. There is also one at NIH which is open to civilians but it may be easier to access the VA program.

 

[lgelb]

Hi, Sunvita, as you say, good news, perhaps, but no resolution. May we know who you saw at the VA? There are other people here in that area.

Riluzole doesn't work that way...and stopping it would only add a new variable to your complex dilemma. I would stay on it and as Nikki says work through to a final diagnosis. Did the VA compare the EMG/NCV data from your first doc with theirs? That would seem an important consideration, progression of symptoms notwithstanding. I would also ask the VA to consult with Hopkins or vice versa, as would normally be done when diagnoses differ to such a serious extent.

There are some rare myasthenias and other possibilities as well, but I can't think of anything that your rx regimen would be worsening, except that for general health reasons, you would want to minimize dosing of the other two to cover symptoms and stop there.

One final thought: if most all your symptoms to date have started and stopped w/ the jaw/throat/saliva/speech, I would get an ENT exam to rule out parotid disease.

Best,
Laurie

 

[Blade~]

Hi Sunvista, I'm in similar shoes you are. Although nobody could give me a definite diagnosis I was constantly called back for rechecks by doctors and neurologist and their best guess from all was ALS!

For me is also started almost two years ago with muscle atrophy in the neck and throat, salivation, difficulty swallowing, yawning or sneezing (also had speech problems but mysteriously that only lasted for a short time). Then in a few months it all followed by increasing muscles twitches all over my body some areas more persistent than others, had moderate brisk reflexes and mild but frequent muscle cramps. Then the muscle atrophy started to spread down my chest and upper back causing some difficulty in breathing. I was sent to have many tests done but as with most ALS cases all came back negative. EMG, however wasn't used in my case as the muscles that atrophied were as they said 'too fine' and the readings would have been inaccurate. So again I was left hanging in balance.

... then just a few months ago all started to slow down and seems to have stopped all together at the stage where I am. Some symptoms like the salivation almost completely went away and most of the muscle twitching did too (still have occasional ones), however none of the muscles I lost came back. If I exercise them they just get worse but a few days later come back to this barely functioning state again. So here I am but at least with no more progressions with doctors don't know what to make of it even though their first guess was ALS. We're also all confused but yet grateful. Maybe it's something that very closely resembles ALS, or maybe a mild form of it that stops at one stage? No one knows and no one could say anything. This disease is just still too mysterious to know everything about it.

 

[Sunvista]

The VA neurologist ordered an ENT exam which has not yet been scheduled. The VA speech pathologist ordered a swallowing study. What is parotid disease?

I wouldn't say the VA neurologist was in the least flummoxed. He was skeptical of the first EMG and almost totally convinced of his own non-ALS diagnosis.

I have also consulted another non-VA neurologist here locally who runs an ALS clinic. He was also skeptical of the ALS diagnosis as I am showing no other muscle weakness (below my head and neck).

 

[Blade~]

Parotid disease when you have problems with your salivary glands.

I too went through swallow tests with several months intervals, fist was normal but consecutives showed some food stagnations, I am advised to drink liquids during meals. Liquids go down better than solids.

Just frustrating when they can't tell you what is wrong with you and can't do anything about it. For several months they were pointing to bulbar ALS but then ended up inconclusive. At this point I gave up going anywhere and just going on with this thing as is. I developed a few things that help like keep moderate physical and mental activity on daily basis, developed new ways to eat, yawn or taking deep breaths.

How are your symptoms now, any new ones? Are the ones you have getting worse, better or staying the same? Did you also have any muscle twitching and how about your reflexes? Hope you can get some answers soon.

 

[Music67]

Watching the most recent doctor bedlack video he shows the most common types of ALS patients and one of them only affected the neck region, if I'm not mistaken. Check the video out - under ALS reversals under the drug trials header.

 

[Sunvista]

How are your symptoms now, any new ones? Are the ones you have getting worse, better or staying the same? Did you also have any muscle twitching and how about your reflexes? Hope you can get some answers soon.

Existing symptoms staying about the same. No muscle fascillations and no new symptoms except one. Before getting out of bed in the morning I stretch on my back. My whole body trembles or vibrates. Strange sensation.

 

[4tloml]

Just a thought...

My husband's initial diagnosis was bulbar-onset ALS, but then it changed to Multiple System Atrophy--Cerebellar (and then back to ALS around 1 1/2 years later). But the early symptoms of MSA-C can be very similar to bulbar-onset ALS. Both ALS and MSA are primarily clinical diagnoses early on--I'm wondering if that's ever been on your doctor's radar. MSA is a Parkinson-Plus disorder, so a movement disorder specialist would be most knowledgeable about it. Like I said, just a thought. Chasing the diagnosis to get the right treatment has been one of the hardest things about this illness. Wishing you the best.