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xtczero

New member
Joined
Nov 3, 2009
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6
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Learn about ALS
Country
Au
State
Qld
City
Robina
Hi all

I've been silently browsing the forums for a while now & thought its time to share my journey which has brought me to your forum and I pray everyday I don't have this or some other dreadful disease.

I hope you all don't mind me posting this & apologies for it being so long.

I have not been diagnosed with anything yet, however ALS/MND is 1 of many "possibilities" that hangs heavily over my head at this point.

Maybe some people who come here with the "ALS fear" might appreciate hearing my journey and find some comfort in knowing there's others going through the diagnosis phase, its scary for us all & we all go through the insane moments where we somehow connect a symptom to this disease. Not everything is ALS even if your symptoms may suggest they fit. Try not to let it rule your life & get off Dr google, he's the worst Dr you will ever visit!

I haven't listed all of my symptoms below, just a few to tell the story.....

6 months ago I was a healthy 32 year old fit athletic father who did 24hr mountain bike races as a sport, had bundles of energy and the world in front of me to conquer.

fast forward 1 month and I was in the ER having a heart attack with unknown origins, flu like symptoms, rhabdomolysis & other issues, after a miriad of tests my heart was given the all clear and after a further month of more & more muscles problems becoming apparent they eventually concluded it was my cholesterol medication causing the issues (As if the rhabdo shouldn't have given that away a month earlier!).

After coming off the meds I improved for 2 weeks, I felt amazingly well so I jumped back on the bike & went for a casual ride, what a mistake that would prove to be.

A few hours after the ride I started to feel funny, next thing I was twitching all over & felt exhausted, after a couple of days of this I went to the Dr's who referred me to a neurologist. This would start my journey into the world I now live of having test after test.

The 1st neurologist I went to spent 5 mintues listening to my story, did a half baked exam, concluded i'm suffering from migraines and sent me on my way with some medication, migraines? i've never had a migraine in my life, infact the only time I ever get a headache is if I have the flu. Anyway, niavely assuming he was the expert I took his diagnosis as right & collected my meds, the medication caused more twitching and spasms along with liver problems so I had to stop it after 4 days. On my return visit he concluded i'm suffering anxiety and I should get it treated.

What a downer, if there's 1 thing I can say about myself is i've never been the anxiety type of person, being a typical male I can switch off my emotional side like lightening (just ask my wife :p ). Then the mind games started.... could this be all in my mind, can my mind control me physically like this, how can I switch this off etc etc....

However, things just didn't seem right, I wasn't convinced anxiety could cause all the problems I was having, so after moving States (as if I didn't have enough going on I had to move States and start a new job) I decided to pursue this with new Dr's. I went to a local GP who was excellent, she was well up with the muscular problems Statins can cause and ran a miriad of blood tests, everything came back fine except my CPK was elevated at around 700. This was unusual as i'd been off the statins for a couple of months and there was no obvious reason why it should be elevated. Given this and my many physical problems including the odd random fasciculations + some weird thing going on with both quad muscles (kinda like fascics but more ripply/worms under the skin kind of thing and only when I flex them) she suggested I may have some kind of muscle disease like a dystrophy that the statins may have uncovered and I should get into a good neuro immediately for further testing.

So the Dr booked me in with a reputable neuro and I managed to get in after a couple days due to a cancellation(what luck because it was going to be mid january otherwise)

I went for my appointment and the neuro spent at least 20 minutes talking to me, asking about my history of problems etc. Wow, a Dr that actually spends time listening, this has gotta be a 1st!

He then did a full physical exam, which was all good, except my ankle reflexes seemed a bit low and then he decided to do a NCS and Needle EMG on 1 leg (thigh & calf). It all came back negative. So he then spent another 15 mintues telling me his toughts and what things could be causing my complaints etc. He finished up by saying I may have some kind of muscle or metabolic disease but he didn't think I had too much to worry about, the fascics may just be benign and he would see me in 3 months to see if anything had changed, I was free to get back to excercising. Well I was on top of the world when I left, that was the best i'd hoped for, a reputable neuro had actually given me the time of day and not pushed me out the door with some "here try this pills" and on top of that everything was looking good.

So I jumped back on the bike, did 3 rides over 3 days and that is when things really changed. I on the 4th day I felt exhausted, I was just so tired & fatigued I had to lie on the lounge for a day sleeping to regain some strength. then I noticed my palate felt like it had dropped, I woke up 1 night kind of snorting & carrying on & it felt like it was resting on my tongue if that makes any sense to anyone.. it was a horroble feeling anyway. Then the muscles all around my left eye started to hurt in an over used fatigued kind of way and my eyelid drooped. Then I was somewhere where I had to talk louder and my voice disappeared on me after about 5 minutes & when it came back it was gravelly for many days afterwards.

This is when the panic kicked in, my Dr googling on BFS told me these things don't happen so it must be something more sinister. Then I started to think back & remembered i'd noticed on & off that my breathing would on occasion go very shallow, it felt like my breathing muscles were fatigued and didn't have the strength to suck air in, then I remembered that when I felt like this I would do alot of yawning ( I assumed because my breathing was shallow I was yawning to get more air in). Then I remembered that i'd been quite emotional on & off for many months, I would tear up when watching real medical emergency type tv shows & there was a few times when i'd just burst into tears when i'd think of the the journey i'd been going through - At the time I thought its been an emotional rollercoaster and I was just releasing my emotions, however then I remembered back further, before all of this happened & I had noticed I was becoming unusually teary over several months prior with no real explanation as to why. Oh & what is this incessant phlem in my throat all about?

Then I started to think back over the last couple of years, I remembered my brother giving me some grief 1 day over having butter fingers because I kept fumbling tools in the garage, i'd had periods on the bike where my quads would get sore (as in the 1st time used kind of sore) and I would struggle to ride at my usual pace for no reason, I'd been to the Dr's a few times over this period complaining of feeling unusually fatigued, could all of this been some early signs of something bad that I hadn't connected?

The dread that filled me at this point was horrendous, i'd come across ALS in my Dr googling but never gave it any consideration, apart from the fascics, I didn't think I fit the ALS picture at all. Then the mind games started again, could all these things be tied together as the start of ALS symptoms? But what about all the other stuff that doesn't fit the ALS picture.... then the reasoning begins (i'm a very logical type of thinker), I have this but I don't have this, so it can't be ALS, but I have this so maybe it could be, grrr shut up brian!

Anyways, I rang the neuro's office and they got me back in, by this time my eye, palate & voice were back to normal, The neuro was alarmed at my newly developed problems and that my fascics had spread like wild fire since he last saw me (although the fascics are never present when he sees me - another positive sign?) and ordered a muscle biopsy to see what's going on with my muscles. He also said it didn't sound like a muscle or metabolic disease, it sounded more CNS. Well, why did he have to say such a thing? CNS.... isn't ALS caused by problems with the CNS rather than the muscles themselves? Talk about that feeling of dread again.

Moving right along, I had the mucle biopsy Tuesday just past, I have just received a call from my neuro's office to say the results are back (wow 2 day turn around that's gotta be a new record) and the neuro wants to see me asap to discuss. So i'm booked in 1st thing Monday morning.

I'm hoping with the quick turn around on the biopsy that they found something definate that steers me right away from ALS, the surgeon told me if the sample is complicated they'll have to use the electron microscope & that will take a much longer time than the standard tests, so this is a good sign. That & they can't or shouldn't diagnose ALS just off a muscle biopsy & some possible bulbar symptoms & with my clean EMG that's an even better sign.

I certainly I don't know if I have ALS I live in hope & pray that its not, I have some things going on that fit the picture but many things that don't, Infact many of my symptoms over the last few months would fit with an MG diagnosis long before ALS, however as human behaviour would have it, my worst fears firmly sits with ALS/MND.

To the PALS on this forum, your encouragment and advice to other people going through the diagnosis phase or to the recently diagnosed are inspiring and have lifted me on those low days when I realise that I don't know what's wrong but I know its not going away and i'm not a simple pill away from being cured.

What ever I have has taken away a significant chunk of my quality of life very rapidly, but I can still walk, talk, eat & breath without drama and the longer i'm able to do that without deteriation the more hope I get that maybe this thing will not progress into something worse than it already is.

My Neuro refers to me as the complicated case because I don't fit any picture entirely, this makes me smile, at least i'm making him work for his money & who knows, maybe my case might appear in a medical journal one day & assist in a cure for something? :)

Cheers all, i'll keep you posted on my progress
 
Hi, xtczero, and welcome to the forum. You have certainly been through a lot in the last six months, starting with a heart attack and then all these other symptoms. That is great that you have managed to maintain a generally positive attitude through all this. It's natural to be worried about ALS with all you are experiencing, but as you say your symptoms do not quite match up. Generally ALS problems do not come and go, although in my experience there may be some variation at first. But you would expect progression and worsening. It is also very encouraging that your EMG was clean. ALS weakness is due to nerve damage and that should show up in the EMG.

I don't know much about what a muscle biopsy might show. Those are sometimes used as part of an ALS diagnosis but I think that would usually happen only after a dirty EMG. Not sure what your neuro may be thinking to be trying that at this point. Maybe it could find some other muscle problems that are not nerve related.

Anyway, at this point I would try not to fret too much over a worst case scenario like ALS. It does sound like there may be other things going on and until you know more it is reasonable to expect a better outcome. I hope you do get some more helpful information soon and that things work out well. Feel free to ask more questions as you go along.
 
Hi xtczero, welcome.
It sounds like you have some very good doctors checking you out, which is good.

Hopefully on Monday they will be able to tell you what they think you have, there is some treatment for it and you will be back soon riding around tackling those hills around Roma.


cheers from another Aussie

Peter
 
Hope that it is NOT ALS! I love your line about making them earn their fees! Keep your chin up and welcome to the USA and the forum.
 
opps xtczero,
Just checked again and you live in Robina not Roma.
Hopefully you didnt get tangled up with the scoolies too much on the Gold Coast :D

cheers
Peter
 
please let us know the outcome and best of luck
 
Schoolies, for all you non Aussie people i will let you in to the secret.

No it is not a group of sharks that migrate every year to the beach (authough some say they are):lol:

What they are is when the school year is finished for the year 12 here, that is people that are normally 17 or 18 years old, roughly, they tend to congegate for a few days of partying.

The Gold Coast is a favorite destination of many and as the school year ends at different times in different states it tends to go for a couple of weeks.

From memory i think the figures for this year were app 10K for the first week end and double for the next.
If the numbers are wrong forgive me but as you can see a lot of young adults letting their hair down so to speak with plenty of liquor etc to go around it ends up being one big party.

Hopefully that will explain what scoolies are Glen, and no i didnt go, i just went to work when i left school, what a bummer:-(

cheers
Peter
 
Aww Peter, you weren't one of the "Boys Gone Wild"?
 
Thanks guys, I avoided the schoolies crowd like the palgue, Didn't see any passed out on the beaches 1st thing in the morning this year either, must've been a tame bunch.

Well I saw my neuro today, the biopsy was all clear so that rules out any muscle diseases. He's stumped, my symptoms don't seem to be progressing or if they are it's extremely slow, he's suggested that given I had such a rapid decline initially & now it's halted that maybe Ive had some kind of virus attack my cns at the same time as the statin problems, or perhaps a virus actually instigated the reaction to the statin along with the cns damage.

Anyhow, it's now just a waiting game to see if I improve, decline or remain as is. Time to get on with life & see how we go.
 
sounds like good news to me, wishing you the best
 
xtczero, have you looked into heavy metal poisoning? A lot of symptoms of such a poisoning overlap with symptoms with MS and MND. My brother had very similar symptoms that you have been experiencing and now a specialist that has been seeing him is convinced that it is heavy metal posioning. This could be due to a number of different causes including toxic environments and eating habits. Eating a lot of fish can definitely cause chronic mercury poisoning, especially eating fish that eat other fish (bio-amplification). Just something you may want to look into. I am glad that I suggested this to my brother because left long enough (maybe you are on a waiting list for MRI, etc.) the symptoms of heavy metal poisoning can be irreversible. I hope this helps you with your journey
 
Hi all

I thought I would post an update, mainly to give any concerned Dr googlers out there some hope that things aren't always what they seem.

As I said I had the muscle biopsy just before xmas and muscular dystophy was ruled out, but unfortunately I was no closer to an answer & ALS/MND has always been there niggling at my ever decreasing sanity.

Anyway, I had a significant improve leading up to xmas & was almost at the point where I was feeling 100%. I have since slipped backwards a bit but still much better than 6 months ago.

I have just been to see the leading MND specialist/researcher in Brisbane (maybe be the top guy in Australia?). He's interested in my case and is going to work with me until I get a diagnosis. The good news is there was no mention of MND whatsoever which was a godsend! He's looking down the path of metabolic or mitochondrial myopathies or maybe some kind of myotonia or maybe even as simple as a post viral auto immune issue. None of which are ideal but certainly a great deal better than MND.

My voice still goes hoarse and sometimes drops to a whisper if I exert myself to much, I have widespread fascisulations & I get random bouts of muscle weakness around my body but at this stage MND isn't even on the radar.

For those that are here with unsubstatiated concerns over ALS, It's amazing how you can cause yourself so much concern over having something based on 1 or 2 symptoms even though logic tells you all the other symptoms don't fit the picture. I'm a very level headed guy and even I couldn't shake the fear of ALS or some other MND even though looking at the whole picture I don't fit the picture.

For those that are on the search for diagnosis, I often see posts about people questioning if they should try a different neurologist, the simple answer is YES! One very important thing I've learnt through all of this is Neurologists ain't Neurologists! The 1st neuro I saw is reputable but was terrible, he had me pegged with migraines and associated myclonic jerks with a touch of anxiety before I even walked through his door and he wasn't budging off that diagnosis. The next 1 was great, he ordered the biopsy etc but I fell outside his area of expertise - most neurologists see elderly patients suffering the standard suite of diseases such as parkinsons etc, they don't often see younger people with rare diseases and aren't necessarily up with how to identify or treat them. The 1 i'm with now is proactive in researching these diseases and takes a keen interest in them and I have 100% confidence in what he's saying.

This is your life and you want the best person for the job looking into your illness so if you don't have confidence in your neuro go elsewhere! If your mechanic wasn't giving you the service or answers on your car that you want or expect you'd change garages without a thought, it should be the same for your own health.

As a side note - for anyone that wonders why their neurologist doesn't just send them off to get a muscle biopsy willy nilly I now understand why. The procedure itself was fairly simple and painless but the month of leg weakness and limping afterwards was a concern and an annoyance and I still have a large patch of numb skin on my thigh which may or may not repair itself. I guess depending on what's wrong with you, cutting into the muscle may aggrevate things more and they can't forsee what damage it may do if you have a muscle or nerve disease?

Anyway, I wish everyone the best
 
very happy for you
 
Thanks for the insightful, and well thought out post. Hearing from you might make a big worry go away for so many. I agree totally with the Neuro point. I had to go through a couple who had 0 idea of what I had, Ironically I had to plead to see a specialist, only took him a minute to get down to MND.. I think that you are in good hands, glad you Neuro is working on options. I think a Neuro would have noticed in the Clinical and surely if MND were in the radar. I am hoping you have something curable.
 
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