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Possible ALS? Where to turn? What to do?

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Campaigner8
Campaigner8

Can someone, anyone help me navigate my next move, as I am at the proverbial end of my rope.

A brief background first:

I am a 54 year old male who was diagnosed with spasmodic torticollis, a dystonia which I developed in my early teens. This cervical dystonia causes chronic pain in my neck region. Also, causes me to involuntarily hold my head tilted to the left side. Otherwise, I have been a healthy individual, up until just over a year and a half ago. 

A new, seemingly muscle related problem started about twenty months ago, and is continuing to get progressively worse. When it first started, I was getting pain in my right arm and chest sporadically. As each month has passed, it has rapidly developed into a more widespread, extremely painful affliction of an unknown etiology. 

I am currently experiencing pain, muscle spasms and various symptoms in the following regions: 

- neck (different than the dystonia related pain) 

- shoulders - primarily right side, but not limited to 

- upper right arm - limited range of movement - deltoids and biceps are affected the most 

- chest including sternum - primarily right side, but not limited to

- mid and upper back - primarily right side, but not limited to

- spine - lumbar through cervical

- legs and feet - primarily right side, but not limited to

- Face, forehead, scalp and eyelids - pain and twitches

- Losing my voice - (hurts when speaking) - It seems like when the pain and muscle spasms worsen in my frontal neck muscles, my voice becomes hoarse and it hurts in my sternum when I speak. I went to he voice clinic and received a laryngoscopy. The ENT Physician cited that "everything looks normal; it is perhaps muscle related as per your other symptoms. You should be looked into further by a Neurologist." Neurologist referral sent.

Pain and various symptoms description:

I would best describe the overall pain as a combination of burning, pulling and pulsing muscles with a continuous stabbing of a hundred needles, all jabbing specific areas all at once. It feels like gravity is forcing me down at my shoulders. Almost like my spine can't support my weight (I am 5'11" - 195 pounds - big frame). I also am feeling increased rigidity when walking. Like my body muscles are seizing up. My balance is also affected. My neck and chest will often feel like there is barbed wire being tightly wound around these body regions. Up until about 20 months ago, I would describe myself as quite agile and athletic. Now, I could not venture at swinging a golf club due to pain, muscle spasms, balance problems,  rigidity and loss of range of movement. When I go to sleep with the aid of three medications, I sleep on my back and the pain and spasms calm down. Within minutes of getting on my feet in the morning, the pain, spasms and rigidity develop rapidly, getting typically much worse as the day progresses. I have days that are barely tolerable, and most days are spent writhing in pain. I would be on suicide watch if I were susceptible to depression.

A few months into these new pains and apparent muscle spasms, I saw an Internal Medicine specialist who trialed me on a number of medications. These included muscle relaxants, anti-depressants and other medications he thought might help. 

I am currently on the following medications:

- Gabapentin (300 mg's from 900 mg's) - tapering off as it did not help

- Baclofen - (10 mg's from 40 mg's) - tapering off as it did not help

- Mirtazapine (60 mg's to current dose of 15 mg's) - using now for sleep - higher dose was not effective for spasms and pain

- Sublinox - (10 mg's one hour before bedtime for sleep)

- Amitripyline - 40 mg's - recently started this medication - not effective for the pain, though may help with sleep

Note: I would taper off of the Baclofen and Gabapentin completely if I were able to bare any additional discomfort that may accompany the taper.

Tests performed:

- Bone scan - Normal

- EMG - Normal

- MRI - brain - Normal

- MRI of spine - showed spinal stenosis and some degeneration primarily lumbar and cervical spine related - Back Clinic, Neurologist and Neurosurgeon say that nothing is impinging on my nerves. They seem to concur that the stenosis and degeneration of my spine is not the cause of my widespread pain. I am not completely convinced of that assessment.

- Recent full blood work and urinalysis - Normal

My Mother suffers with multiple sclerosis and peripheral neuropathy. My Father developed and passed away from advancing supranuclear palsy at age 72. I don't seem to present the same symptoms as my Father did. The disease presents somewhat differently with each person. Perhaps, this disease should be considered? This muscular disease is rare, but seemingly passed on genetically. 

I am currently under the care of a Neurologist, but am skeptical as to his motivations in helping me. It may be a combination of the Neurologist and the somewhat inept socialized health care system in Canada. It works when you are easily diagnosed, but patients that are difficult to diagnose, like myself, get put on the back burner due to austerity measures.

This may be of interest. I went to the emergency ward on an occasion when the chest pain was alarming to the extent that I thought it my be cardiac related. They ruled the cardiac factor out and gave me two shots of morphine. It did not touch the pain in my chest, right arm, back or shoulder. I am not sure what that indicates.

I am desperate for help and don't know where to turn. The pain and various symptoms are getting worse, week to week, month to month... . If it is ALS, advancing supranuclear palsy or whatever, I would like to know. 

Thanks for reading. Any thoughts are greatly appreciated.

0 likes, 2 replies

2 Replies

  • PeterAK
    PeterAK Campaigner8

    Posted

    I sympathize, my first encounter with a neurologist was not all that great. He seemed to be disinterested ran a couple of the more common tests for neuropathies coming up with negative results and then just stopped for whatever reason. Finally found a neurologist who was more dogged and he followed a flow chart until he reached a positive diagnosis for myasthenia gravis. Rare disease symptoms overlap and it can be very difficult to get a correct diagnosis without extensive testing (sometimes very specialized). One of the ways to organize this testing so as not to not leave anything out is to use flow charts that go from the most common to least common disease associated with the symptoms. Testing can be slow and I’m sure expensive. Especially in your case, where you may have to follow several flow charts. It is not very glamorous and some doctors appear to find this boring. However, it may be what you need to get a diagnosis, as I found out.

    If your neurologist is not doing something systematic then you might have to consider finding another  neurologist(s) or getting another opinion.

  • PeterAK
    PeterAK Campaigner8

    Posted

    Another thought(s). It appears that you may have autoimmune coming down through your mother’s side and genetic through your father’s side. This is similar to my family with a genetic driven cancer on my father’s side and serial autoimmune diseases on my mother’s side. I don’t know much about genetic diseases but I have spent a fair bit of time dealing with autoimmune. I have read of autoimmune diseases that cause symptoms like yours, but they are very rare and if you had such your chance of getting a diagnosis would be close to nil. You likely would need to go the idiopathic route. One of the treatments for idiopathic (undiagnosed) autoimmune disease is IVIG. If you used IVIG and got a positive result you would be pretty certain of having an autoimmune disease and it might allow your doctors to craft some sort of treatment. The downside is the cost and getting it approved. I did three 1-week sessions and my insurance companies paid $27,500 US each for a total of $82,500 US, just to get me ready for a knee replacement (w/MG), that insurance paid less than half that amount for. I don’t know what the rules are in Canada for approving IVIG (and they probably vary by province), but if you decide to go this way you will need to determine what criteria need to be met. Possibly an idiopathic diagnosis.

    There are also conditions called autonomic neuropathies or dysfunctions that can be associated with autoimmune diseases. These dysfunctions can affect all parts of the body. I had all sorts of erratic heart issues including tachycardias during the period of undiagnosed MG. All my heart tests were negative of course, including the monitors. Once the MG was treated and I had the IVIG treatment they went away. My systolic blood pressure even dropped 30 points without losing any weight and my pulse rate from the 90’s and 100’s to the 60’s and 70’s. The problem with these dysfunctions is that they are not commonly tied directly (by published studies) to many of the autoimmune diseases. They are to MS for instance but typically not to MG. Thus, my doctors would tell me I had this dysfunction but would not give me the formal diagnosis, figure that one out. They can also occur with genetic diseases such as Parkinson’s and can be fatal.

    I throw these ideas out with the hope that you get something useful out of them. In the 7 years that my MG went undiagnosed I looked in all sorts of different directions, including ALS. And then one day I went to an endocrinologist who looked at me and said “this is not thyroid disease”, and sent me to a neurologist who nailed MG on the first visit. The secret there is a large completely integrated clinic with over 200 doctors representing all the specialties. They actually talk to each other. If you could find something like this it would be your best shot. I bet that endocrinologist suspected I had MG because he had seen it before, working with the neurologists across the hall.  

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