mack1234
New member
- Joined
- Jun 28, 2013
- Messages
- 1
- Reason
- PALS
- Diagnosis
- 05/2013
- Country
- US
- State
- OH
- City
- Little Hocking
I am 41 years old, married male with two young boys ages 3 and 7. I've always been a very physically active person in perfect health. Other than the Bird Flu and and an appendectomy in 2010 I've been in perfect health my whole life. I ran cross country and track all through high school and college. I spent many years mountain biking, skiing, backpacking and kayaking. I was still running and mountain biking until March 2013 when exercising just started to make me feel bad. I just felt rotten after a hard cardio workout.
My wife is a health food fanatic. I have eaten a balanced diet mainly of whole foods, meat, fruit, grains and vegetables for the last 14 years. In my bachelor days before I got married I probably had a few more Whopper's, Big Mac's, fries, soda's and Egg McMuffin's than were probably good for me but I had good cholesterol ratios the few times I did have blood work done so I never worried too much about it.
Looking back I had some symptoms over the past 3 years that were so benign and minor that they didn't seem to warrant medical attention. I'm also beginning to wonder if the flu and appendectomy I had in 2010 somehow started a snowball effect. Even the benign symptoms I'll describe below all seemed to start after my appendectomy in 2010.
The first symtom was cramping. I had cramping in my muscles only on the right side of my body that started 3 years ago that I didn't really think too much about. Now I'm realizing the cramps might be part of the big picture here. They would happen after I would exercise but most often when I was in a wedge teaching my son to snow ski when he was 3. The cramps have definitely gotten worse now that the fasciculations have started. Now, in the morning when I wake up, yawn and stretch, the muscles in my right arm, leg, hand, foot and toes all seize up. Again this is only on the right side of my body.
Another symptom that I have been experiencing for some time was the pseudobulbar affect. A few weeks ago in the neurologists office I saw a poster on the wall advertising a medication and realized I was suffering from this. When I get frustrated I laugh uncontrollably and I break out in tears sometimes when discussing things that have absolutely no emotional value whatsoever. This has been going on for two or three years as well but has definitely gotten worse this winter. I've always been an emotional person. I'm the first person to break out in tears at a wedding and I just attributed it to being an overly sensitive person.
Another symptom I was having for the last 3 years was bouts of acute bronchitis that would start every time I caught a cold. I would develop a dry cough and tickle in my throat that hung on for a month or two sometimes after the cold went away.
Another symptom that I have noticed over the last year or two was with my eyes. I've noticed my eyes darting away from whatever it was I was looking at then instantaneously returning back to whatever I was looking at. I've recently found out this is called nystagmus. The other eye issue is optic neuritis. My right eye just gets a little blurry from time to time and then clears up after a few days. I had been attributing this to eye strain. I work on computers and files and have always seemed to suffer from eye strain for the last 20 years so again I just wrote this off as a symptom of turning 40 and looking at computer screens for 10 hours a day and didn't really worry much about it.
the last symptom is a tremor on the right side of my body when I yawn deeply. Looking back I seem to recall this one happening for at least a year, maybe two. Anyway, my right arm and leg start to shake back and forth rhythmically similar to what looks like a friend of mine with Parkinsons disease. This tremor stops as soon as the yawn stops.
Again, the cough, the pseudobulbar affect, the cramps, the tremor and the eye issues didn't seem like anything to worry about at the time. None of them seemed like precursors to a life threatening illness but over these last few weeks I'm seeing that they might be part of the bigger picture here.
On to the story leading to my ALS diagnosis.
In February 2013 I caught a cold/flu bug and developed a nagging cough and went to the local walk-in medical clinic in early March to see if I could get some help with the cough. At this point I could still speak clearly and the doctor diagnosed me with acute bronchitis and prescribed me a steroid and antibiotic. After a week or so that fixed my cough but I lost the volume in my voice and went back to the same doctor a couple weeks later in late March and they diagnosed me with Laryngitis. They gave me a different antibiotic and Zyrtec for nasal drainage because they thought the nasal drainage was causing the throat irritation. After a few days the volume returned to my voice and this is when I really noticed the slur in my speech.
At the second visit to the walk-in clinic for Laryngitis, I was just starting to notice the slur in my speech. It just felt like my tongue was always getting between my teeth on the right side of my mouth and some letters in some words just came out slurred. The doctor had me stick out my tongue and noticed that it was deviating to the right side. She did not say anything about fasciculations so I'm not sure if there were any in my tongue at that point or not. She ran through a physical exam for other stroke issues and I passed that with flying colors but she recommended I see an Ear Nose and Throat Specialist because she was not sure what was wrong with my tongue.
A couple weeks later I got in to the the Ear Nose and Throat doc. By this point the slur in my speech was getting worse but not to the point where my speech could not be understood as I am now. The ENT also thought I had a stroke. She ran through the same physical exam as the doctor I saw two weeks earlier. She did balance and strength tests and a whole bunch of other tests pitting one side of my body against the other. Physically the only symptoms I was exhibiting at this point was the slur in my speech and the tongue deviating to the right side. They still were not convinced that I had not had a stroke so they ordered an CT Scan with contrast and blood work and sent me straight to the radiology dept. at the local hospital. The CT Scan results came back normal and the blood work was perfect just as every other blood work I've ever had done. They told me I was not in any danger of a stroke or aneurism so to go on about my business but we still needed to figure out what was really wrong.
The ENT knew something was up despite the normal CT scan and blood work so they set me up with a General Practitioner since they said I would need someone to make referrals to specialists. I did not have a family doctor at the time. We just moved here a year and half ago so I could start a new career and I had not had any reason to see a doctor yet.
A couple weeks later I finally got in to see the General Practitioner. By this point the fasciculations had started in my right arm and right leg (or at least this was the first time I or anyone else had noticed them) When the doctor examined my tongue he saw the deviation to the right and he also saw the fasciculations in my tongue. My speech was getting much worse by this point and it took me half an hour to verbally work through everything that was done in the previous three doctor visits. At this point I was also experiencing paralysis in the right side of my face. When I smiled the right side of my face did nothing. (I later learned that this was Bell's Palsy and it actually went away after a few weeks). He also gave me the same strength and balance tests and decided we needed a better picture of my brain. So, he ordered a new set of blood work a urinalysis and an MRI. I went to the hospital the next day deposited more bodily fluids with the nurse and had the MRI done. This MRI was done without contrast.
The day after the MRI the General Practitioner called and said the MRI, blood work and urinalysis were all perfect with nothing out of order. That is when he said he wanted me to see a specialist at the Cleveland Clinic. They sent me to a neurologist who specializes in Parkinsons Disease. I believe the General Practitioner at that point thought I possibly had Parkinsons.
I went to Cleveland, OH the next day, April 26, 2013 and spent about half an hour with the specialist. He did all the same strength and balance tests and I passed those with flying colors but he was very worried about the fasciculations coupled with my speech issues. My speech was terrible by this point and my wife had to tell him about everything leading up to our visit because I had nearly lost my ability to speak entirely. Anyway, the neurologist said the fasciculations were not a symptom of Parkinsons or MS so he started testing my reflexes. Almost anywhere he tapped me with the hammer I had a reflex. He said the hyper-excitability in my nervous system, the speech the fasciculations and the lack of any remarkable issues in the MRI led him to make a diagnosis of ALS.
I had been online reading over the past few weeks and knew what ALS was and knew what this diagnosis meant. I immediately had an anxiety attack. This anxiety attack was a new experience for me as well. My throat tightened up, I got lightheaded, I couldn't breath and thought I was going to throw up. All I could think about was my 3 and 7 year old boys and how my family would survive without me.
Anyway, the doctor got me an anti anxiety medication and I finally calmed myself down after about 10 minutes and we went on with the appointment. My wife did all the talking from that point forward. The doctor did tell us that the diagnosis was still dependent upon getting an EMG done and that there was a slight chance there might be some other underlying cause. However he said he felt very certain that my strength and balance would soon be fading away and more symptoms of ALS would soon be developing. He wrote ALS on the paperwork for my insurance and sent us on our way and told us to get an EMG scheduled as soon as possible.
We live 3.5 hours from Cleveland so we called around to try and find a local place to get an EMG done so we didn't have to spend a full day going to Cleveland and back again. It took us three weeks to get in to see a local neurologist and we finally got an appointment. Before he would do the EMG he wanted to do an examination so we went through the same round of balance, strength, reflex tests. By this point I had all but lost my speech but I was still not experiencing any physical strength or balance problems. Based on the exam he said his diagnosis was also ALS.
We came back a few days later and did the EMG and the neurologist was pleasantly surprised to find out that all but two spots he tested on the EMG were normal. One spot in my shoulder and another in my thigh gave a slightly abnormal reading. The EMG picked up fasciculations almost anywhere he tested including my tongue. Even my tongue which barely works showed normal readings on the EMG other than the fasciculations.
After getting what he called a very unexpected result on the EMG the neurologist ordered another MRI and a lumbar puncture. This time he wanted the MRI done with contrast. So a couple days later I went back down for the MRI with contrast. It again came back with nothing remarkable to report. I had the lumbar puncture done and the results from it came back almost normal. He said I have an elevated protein level but he said was not elevated enough to cause any concern.
They did check my CSF for Lyme DNA so they have ruled out Lyme disease as well.
That was how we left it at the appointment this morning. The diagnosis is still ALS because the doctors say they don't see any other symptoms that would cause them to change it. They say I don't have all the typical symptoms of ALS but the symptoms I do have point to ALS more than anything else.
So to finish up I have a few questions.
1.) I see people on here who say it took a year or more to get an ALS diagnosis. My initial diagnosis came in about 3-4 weeks and my diagnosis did not change with a nearly normal EMG. Should I be getting a second opinion, asking for more tests, etc. etc. or does this sound like the normal course of events for someone with my symptoms?
2.) I've been experiencing muscle cramps for some time but the fasciculations are fairly new. Is it normal to see a nearly normal EMG in someone who has been having the cramps for 3 years and fasciculations for three or four months? I've read that ALS fasciculations don't start until there is nerve death and people are saying if a person is having fasciculations without nerve death that they actually have BFS. Also is it normal to have cramps for three years and then have the fasciculations start?
3.) My tongue and speech have steadily declined over the past three or four months but I'm still strong, I have no muscle weakness, loss of balance etc. I still get out and walk a couple miles day. Could my years of running, biking, skiing, snowboarding, exercising and good diet be what is allowing me to function without the loss of strength and balance that most people say are key symptoms of ALS?
4.) I've been online reading about Optic Neuritis, Nystagmus and Bell's Palsy and I'm not finding anywhere that says these are symptoms of ALS. These symptoms coupled with a nearly normal EMG just have me wondering if there is something in addition to ALS happening here? All of these things along with the cramps are happening on the right side of my face and body. Is this just a coincidence or is there something else I should be exploring here? These things all seem to be caused by demyelination disorders like MS but I've been in the MRI machine 3 times and they have said for certain that I do not have MS.
5.) My MRI's were all done of just my brain. I didn't know this at the time I was having the MRI's done but I have since read people saying the doctors weren't doing me justice unless they ordered an MRI of my entire spine. Is this true and what kind of different things would an MRI of the spine show and why do I need an MRI of my spine?
6.) Is it common to have the Pseudobulbar affect for several years and not experience any of the other major symptoms of ALS like dysarthria, muscle weakness, loss of balance, fasciculations, etc. etc.?
Thank you in advance for your responses. I appreciate any info you guys can give me
My wife is a health food fanatic. I have eaten a balanced diet mainly of whole foods, meat, fruit, grains and vegetables for the last 14 years. In my bachelor days before I got married I probably had a few more Whopper's, Big Mac's, fries, soda's and Egg McMuffin's than were probably good for me but I had good cholesterol ratios the few times I did have blood work done so I never worried too much about it.
Looking back I had some symptoms over the past 3 years that were so benign and minor that they didn't seem to warrant medical attention. I'm also beginning to wonder if the flu and appendectomy I had in 2010 somehow started a snowball effect. Even the benign symptoms I'll describe below all seemed to start after my appendectomy in 2010.
The first symtom was cramping. I had cramping in my muscles only on the right side of my body that started 3 years ago that I didn't really think too much about. Now I'm realizing the cramps might be part of the big picture here. They would happen after I would exercise but most often when I was in a wedge teaching my son to snow ski when he was 3. The cramps have definitely gotten worse now that the fasciculations have started. Now, in the morning when I wake up, yawn and stretch, the muscles in my right arm, leg, hand, foot and toes all seize up. Again this is only on the right side of my body.
Another symptom that I have been experiencing for some time was the pseudobulbar affect. A few weeks ago in the neurologists office I saw a poster on the wall advertising a medication and realized I was suffering from this. When I get frustrated I laugh uncontrollably and I break out in tears sometimes when discussing things that have absolutely no emotional value whatsoever. This has been going on for two or three years as well but has definitely gotten worse this winter. I've always been an emotional person. I'm the first person to break out in tears at a wedding and I just attributed it to being an overly sensitive person.
Another symptom I was having for the last 3 years was bouts of acute bronchitis that would start every time I caught a cold. I would develop a dry cough and tickle in my throat that hung on for a month or two sometimes after the cold went away.
Another symptom that I have noticed over the last year or two was with my eyes. I've noticed my eyes darting away from whatever it was I was looking at then instantaneously returning back to whatever I was looking at. I've recently found out this is called nystagmus. The other eye issue is optic neuritis. My right eye just gets a little blurry from time to time and then clears up after a few days. I had been attributing this to eye strain. I work on computers and files and have always seemed to suffer from eye strain for the last 20 years so again I just wrote this off as a symptom of turning 40 and looking at computer screens for 10 hours a day and didn't really worry much about it.
the last symptom is a tremor on the right side of my body when I yawn deeply. Looking back I seem to recall this one happening for at least a year, maybe two. Anyway, my right arm and leg start to shake back and forth rhythmically similar to what looks like a friend of mine with Parkinsons disease. This tremor stops as soon as the yawn stops.
Again, the cough, the pseudobulbar affect, the cramps, the tremor and the eye issues didn't seem like anything to worry about at the time. None of them seemed like precursors to a life threatening illness but over these last few weeks I'm seeing that they might be part of the bigger picture here.
On to the story leading to my ALS diagnosis.
In February 2013 I caught a cold/flu bug and developed a nagging cough and went to the local walk-in medical clinic in early March to see if I could get some help with the cough. At this point I could still speak clearly and the doctor diagnosed me with acute bronchitis and prescribed me a steroid and antibiotic. After a week or so that fixed my cough but I lost the volume in my voice and went back to the same doctor a couple weeks later in late March and they diagnosed me with Laryngitis. They gave me a different antibiotic and Zyrtec for nasal drainage because they thought the nasal drainage was causing the throat irritation. After a few days the volume returned to my voice and this is when I really noticed the slur in my speech.
At the second visit to the walk-in clinic for Laryngitis, I was just starting to notice the slur in my speech. It just felt like my tongue was always getting between my teeth on the right side of my mouth and some letters in some words just came out slurred. The doctor had me stick out my tongue and noticed that it was deviating to the right side. She did not say anything about fasciculations so I'm not sure if there were any in my tongue at that point or not. She ran through a physical exam for other stroke issues and I passed that with flying colors but she recommended I see an Ear Nose and Throat Specialist because she was not sure what was wrong with my tongue.
A couple weeks later I got in to the the Ear Nose and Throat doc. By this point the slur in my speech was getting worse but not to the point where my speech could not be understood as I am now. The ENT also thought I had a stroke. She ran through the same physical exam as the doctor I saw two weeks earlier. She did balance and strength tests and a whole bunch of other tests pitting one side of my body against the other. Physically the only symptoms I was exhibiting at this point was the slur in my speech and the tongue deviating to the right side. They still were not convinced that I had not had a stroke so they ordered an CT Scan with contrast and blood work and sent me straight to the radiology dept. at the local hospital. The CT Scan results came back normal and the blood work was perfect just as every other blood work I've ever had done. They told me I was not in any danger of a stroke or aneurism so to go on about my business but we still needed to figure out what was really wrong.
The ENT knew something was up despite the normal CT scan and blood work so they set me up with a General Practitioner since they said I would need someone to make referrals to specialists. I did not have a family doctor at the time. We just moved here a year and half ago so I could start a new career and I had not had any reason to see a doctor yet.
A couple weeks later I finally got in to see the General Practitioner. By this point the fasciculations had started in my right arm and right leg (or at least this was the first time I or anyone else had noticed them) When the doctor examined my tongue he saw the deviation to the right and he also saw the fasciculations in my tongue. My speech was getting much worse by this point and it took me half an hour to verbally work through everything that was done in the previous three doctor visits. At this point I was also experiencing paralysis in the right side of my face. When I smiled the right side of my face did nothing. (I later learned that this was Bell's Palsy and it actually went away after a few weeks). He also gave me the same strength and balance tests and decided we needed a better picture of my brain. So, he ordered a new set of blood work a urinalysis and an MRI. I went to the hospital the next day deposited more bodily fluids with the nurse and had the MRI done. This MRI was done without contrast.
The day after the MRI the General Practitioner called and said the MRI, blood work and urinalysis were all perfect with nothing out of order. That is when he said he wanted me to see a specialist at the Cleveland Clinic. They sent me to a neurologist who specializes in Parkinsons Disease. I believe the General Practitioner at that point thought I possibly had Parkinsons.
I went to Cleveland, OH the next day, April 26, 2013 and spent about half an hour with the specialist. He did all the same strength and balance tests and I passed those with flying colors but he was very worried about the fasciculations coupled with my speech issues. My speech was terrible by this point and my wife had to tell him about everything leading up to our visit because I had nearly lost my ability to speak entirely. Anyway, the neurologist said the fasciculations were not a symptom of Parkinsons or MS so he started testing my reflexes. Almost anywhere he tapped me with the hammer I had a reflex. He said the hyper-excitability in my nervous system, the speech the fasciculations and the lack of any remarkable issues in the MRI led him to make a diagnosis of ALS.
I had been online reading over the past few weeks and knew what ALS was and knew what this diagnosis meant. I immediately had an anxiety attack. This anxiety attack was a new experience for me as well. My throat tightened up, I got lightheaded, I couldn't breath and thought I was going to throw up. All I could think about was my 3 and 7 year old boys and how my family would survive without me.
Anyway, the doctor got me an anti anxiety medication and I finally calmed myself down after about 10 minutes and we went on with the appointment. My wife did all the talking from that point forward. The doctor did tell us that the diagnosis was still dependent upon getting an EMG done and that there was a slight chance there might be some other underlying cause. However he said he felt very certain that my strength and balance would soon be fading away and more symptoms of ALS would soon be developing. He wrote ALS on the paperwork for my insurance and sent us on our way and told us to get an EMG scheduled as soon as possible.
We live 3.5 hours from Cleveland so we called around to try and find a local place to get an EMG done so we didn't have to spend a full day going to Cleveland and back again. It took us three weeks to get in to see a local neurologist and we finally got an appointment. Before he would do the EMG he wanted to do an examination so we went through the same round of balance, strength, reflex tests. By this point I had all but lost my speech but I was still not experiencing any physical strength or balance problems. Based on the exam he said his diagnosis was also ALS.
We came back a few days later and did the EMG and the neurologist was pleasantly surprised to find out that all but two spots he tested on the EMG were normal. One spot in my shoulder and another in my thigh gave a slightly abnormal reading. The EMG picked up fasciculations almost anywhere he tested including my tongue. Even my tongue which barely works showed normal readings on the EMG other than the fasciculations.
After getting what he called a very unexpected result on the EMG the neurologist ordered another MRI and a lumbar puncture. This time he wanted the MRI done with contrast. So a couple days later I went back down for the MRI with contrast. It again came back with nothing remarkable to report. I had the lumbar puncture done and the results from it came back almost normal. He said I have an elevated protein level but he said was not elevated enough to cause any concern.
They did check my CSF for Lyme DNA so they have ruled out Lyme disease as well.
That was how we left it at the appointment this morning. The diagnosis is still ALS because the doctors say they don't see any other symptoms that would cause them to change it. They say I don't have all the typical symptoms of ALS but the symptoms I do have point to ALS more than anything else.
So to finish up I have a few questions.
1.) I see people on here who say it took a year or more to get an ALS diagnosis. My initial diagnosis came in about 3-4 weeks and my diagnosis did not change with a nearly normal EMG. Should I be getting a second opinion, asking for more tests, etc. etc. or does this sound like the normal course of events for someone with my symptoms?
2.) I've been experiencing muscle cramps for some time but the fasciculations are fairly new. Is it normal to see a nearly normal EMG in someone who has been having the cramps for 3 years and fasciculations for three or four months? I've read that ALS fasciculations don't start until there is nerve death and people are saying if a person is having fasciculations without nerve death that they actually have BFS. Also is it normal to have cramps for three years and then have the fasciculations start?
3.) My tongue and speech have steadily declined over the past three or four months but I'm still strong, I have no muscle weakness, loss of balance etc. I still get out and walk a couple miles day. Could my years of running, biking, skiing, snowboarding, exercising and good diet be what is allowing me to function without the loss of strength and balance that most people say are key symptoms of ALS?
4.) I've been online reading about Optic Neuritis, Nystagmus and Bell's Palsy and I'm not finding anywhere that says these are symptoms of ALS. These symptoms coupled with a nearly normal EMG just have me wondering if there is something in addition to ALS happening here? All of these things along with the cramps are happening on the right side of my face and body. Is this just a coincidence or is there something else I should be exploring here? These things all seem to be caused by demyelination disorders like MS but I've been in the MRI machine 3 times and they have said for certain that I do not have MS.
5.) My MRI's were all done of just my brain. I didn't know this at the time I was having the MRI's done but I have since read people saying the doctors weren't doing me justice unless they ordered an MRI of my entire spine. Is this true and what kind of different things would an MRI of the spine show and why do I need an MRI of my spine?
6.) Is it common to have the Pseudobulbar affect for several years and not experience any of the other major symptoms of ALS like dysarthria, muscle weakness, loss of balance, fasciculations, etc. etc.?
Thank you in advance for your responses. I appreciate any info you guys can give me
