I feel my Dr. is hiding the truth

[Scott Peirce]

Hello,

I’m sorry you can’t get an answer.  your symptoms sound exactly like mine.  1 year after left arm weakness, 3 MRI’s, blood tests, EMG’s, muscle biopsy i was diagnosed with ALS at Johns Hopkins in Baltimore. I’m 57 now.  Arms are both very week, voice is getting bad, but legs and all else good.

Best wishes and good luck.

[Bill]

Myself I went a year looking for a diagnosis before I demanded to be referred to a university MND specialist. Even then I got referred to an even more specialist ALS clinic head. I then got my diagnosis. If your local neurologist can’t give you a diagnosis or won’t even tell what MND’s he is considering then insist on a referral. There are some MND’s that mimic ALS and are even more rare. There is huge variability even in ALS. Good luck.

[Lisa Ryan]

Thanks John, I am very sorry to hear that you do in fact have ALS 🙁  I am glad you did find out early on so that you can plan and deal with things proactively.  I am thinking that I might need to go to a major center to get a diagnosis, even if I have to travel to the USA. It might be an option for me once covid settles down.

[Lisa Ryan]

Hi Bill, I have been seeing a neuro muscular specialist.  It is he that seems to be delaying and not wanting to confirm anything with me.  What is really frustrating is that in October 2019 I did see an ALS specialist, the head of the department and a leading specialist in Canada.  I went to see him but when the door opened, it was his fellow doctor that is in training for ALS.  He was a neurologist but I still think that he just missed some signs in my emg and also missed clinical signs.  I only saw the head doctor at the end after his student left and went to talk to him about results.  He brushed me off saying I had chronic fatigue syndrome and told me to forget about my fasciculations and cramping.  I was very angry.  I think it was the student doctor that did not recognize subtle signs of early ALS.  I guess I can ask my own family Doctor if he would be willing to refer me to another ALS center…I am so upset at the wasted appointments with doctors that are learning.  I understand they need experience but it seems to be at my expense 🙁

[Lisa Ryan]

Thanks Scott, I am glad you finally got an answer and it’s a good thing you seem to have slow progression and I hope you stay that way!  Thanks for the input.

[Alex]

If possible; you should get a second opinion from another neurologist. Delaying your getting help is not good. I was fortunate to have a neurologist familiar with ALS and was referred to a local ALS clinic for a confirmation of diagnosis within 4 months of my original complaints of precisely your symptoms. The sooner you can get started with treatment, the better.

[Duane]

I also think you should get a second opinion.  My initial Neurologist strongly suspected ALS, and he then made an appointment for me with a Neurologist that manages 2 ALS clinics. My EMG then confirmed active ALS.

[Lisa Ryan]

Thanks Alex.  I might ask my family Doctor to refer me to another city with an ALS specialist and try to get looked at by some fresh eyes with no past history.  It doesn’t shock me to read that your symptoms resemble mine.  I have already felt that there is nothing else it could be.  Seems like my Dr. does not want to take a chance that he is wrong even though I know he is thinking it could be ALS.  Wishing you the best!

[Lisa Ryan]

Thanks for your input Duane.  You did get lucky with your doctor didn’t you!  I don’t understand why I am having such bad luck with my doctors or why I am always getting the runaround.

Can you comment on how many muscles they tested?  I think my doctor did not want to test a lot because if he did it would probably have shown widespread acute and chronic denervation.  As it stands my left bicep had polyphasic signals, the space between index finger and thumb had active denervation and the two muscles in my calf had chronic neurogenic changes so they have already gone through denervation.  I am so frustrated with this process and thinking of this every waking moment.

[John]

Hi Lisa,

I am sorry about what you have been going through. Reading your post really hits home for me. I have had progressive weakness, twitching, pain, tingling and tightness all over since May 2019. I have literally had 100’s of tubes of blood tested, 5 EMGs, a muscle biopsy, spinal tap, a dozen MRIs and CT scans, etc. I have also seen about a dozen specialists including neurologists, Rheumatologists, endocrinologists, etc. including neurologists from NYU and Columbia in NYC. I have yet to get a diagnosis or straight answer from anyone. I have been told many times “I don’t think it’s ALS but I’m not sure what it is.” Or “no news is good news.”

The truth is that I don’t trust any of these so-called specialists and I’m willing to bet most of them never even seen or treated an ALS patient. On several occasions, I have had the same specialist suggest I may have carpal tunnel syndrome, neuropathy, an autoimmune disease and other disorders all in the same appointment. I have been passed around from one specialist to the next like a hot potato.

I have done thousands of hours of research on this disease and I’ve never heard of another disease “turning into” ALS. Most doctors beat around the bush and never commit to a diagnosis in fear of being held legally accountable or hurting their ego if they wrong. They only make a definitive diagnosis when they are absolutely 1000% confident in their diagnosis. I have chatted with a handful of pALS, most of whom told me they weren’t diagnosed until their symptoms were advanced and they had lost significant function in a few areas of their body. In many cases, it seemed to take 18 months or more to get diagnosed.

My hands and arms have progressed most recently. I expect an ALS diagnosis sometime soon but the question is which doc will be honest with me and have the guts to tell me. Everything else has been ruled out for me so it’s just a matter of time. Trust your gut and be relentless in your pursuit for answers. Never lose hope. I know it’s hard and very emotional everyday. I’m right there with you. Keep faith. Keep fighting. Good luck and God bless you.

[John]

Hi Lisa,

I have not been diagnosed yet but I am certain that I have ALS. Everything else has been ruled out so I am simply waiting to find the right doc at the right time to diagnose me. Good luck on your journey.

-John-

[Lisa Ryan]

John, thanks for your response, I understand totally what you are saying and I have to agree with what you said that either the doctors are not knowledgeable enough or they just don’t have the guts/bravery to tell a person until it is so obvious that anyone who has done a little searching  would already know.  It seems to vary so much and I just don’t understand their need to see widespread denervation when the person has every other single symptom…AND when there is literally no other disease that it could be.  What frustrates me is that when the doctor hears that I have no grip strength in my left hand and I drop things all day, when things started in my right calf and I am now tripping on nothing, it is asymmetrical, he has confirmed clinical weakness, I have an abnormal EMG, no sensory problems, it is progressing, I have visible twitching and cramps and I am 56 years old,….when we have eliminated everything and done every test except a spinal tap…..what is literally left that matches everything I just said.  Nothing, not that I can find.  I like you have spent countless hours, over the last few years researching endlessly and being rational and logical about this and there is not one thing, despite all the mimics that fits what I am experiencing.

Sorry for the rant but I am extremely frustrated.  I think it is a crime that no one seems to look at all symptoms and put 2 and 2 together to arrive at a diagnosis.

I actually recorded my appointment on my phone and I have listened to it a couple of times.  He was definitely trying to pick the right words and when I kept saying what is still on the table.  It seems only ALS, he said, well that’s why I keep doing these test to make sure it doesn’t turn into that.

He had me tap my index fingers to the crease on my thumbs and because I could do that he said ” If it was als, you wouldn’t be able to do that”.  I’m sure I wouldn’t be able to if I was in advanced stages but I am trying to catch this thing early so I can intervene and try to help myself the best I can ..

I get what you are going through,…totally.    All of us who just cannot find a doctor willing to help 🙁

[Stephanie]

Hi Lisa.  I’m sorry to hear about your health and your frustration.  I’m not an expert.  My 76-yr-old father was diagnosed in June with late-stage ALS.  It took us 3 years to get a diagnosis.  We spent so much time and have had a significant amount of anxiety about the root problem that resulted in his symptoms and caused us to see neurologists, cardiologists, pulmonologists, functional medicine doctors, internists, gastroenterologists.  I’m a layperson who wants to help.  I know my advice may not be easy or correct for you but I recommend you apply and go to the Mayo Clinic in Rochester, MN.  This is where we finally received a diagnosis.  We didn’t do this earlier because it seemed insurmountable to apply, travel, spend the money, etc.  However the web-based application process was easier and costs were less than we feared.  Mayo’s integrated care approach is amazing.  We were clear about the symptoms, diagnostic work, and frustrations we faced when we applied.  They matched us with a care team to analyze the problem.  We spent 2 weeks in Rochester but we came away with a diagnosis and plans for next steps for treatment in our local area.   My prayers and best positive energy are with you.

[Lisa Ryan]

Thanks so much Stephanie. I’m sorry to hear that you and your dad had to waste so much of your time going to endless appointments.  That is so unfortunate and very stressful.  Hearing this makes me so angry at the health care system.  I am in Ontario Canada and it seems it’s the same no matter where you live.  I just want to know why??  How come these neurologists cannot pinpoint this earlier in the disease.  It is so sad to me.  What a shame, wasteful loss of time.  I hope your Dad is getting very good care, he deserves that, everyone does.  I can identify with what you are saying about all of the specialists, I have seen 2 ENT’s and just went to the hospital to do a pulmonary function test because I get out of breath at times for no good reason.  I don’t want to keep spending time going to appointments for things that aren’t necessary 🙁  I will definitely look up the Mayo Clinic.  I wonder if it is open to Canadians… I think that might be my best option because I have already seen the best we have in my province and he was not helpful or interested.

Would you be able to say what you think they did different there that they were able to diagnose him?  Maybe it was the competence to read the EMG results properly?    When I had my EMG in September, my Neuro said a few times, “I think that’s ok, ya…I think that’s ok”….does not instill any confidence in me that I received a proper exam.

Thanks for the well wishes!  Same to you and your dad.

[Duane]

Hi Lisa,  I’m really annoyed with the run-around you have been subjected to.  I’m a Vietnam Veteran and here in the U.S. there are many Veterans with ALS.  I want through the usual battery of tests before my Neurologist said ALS, after he ruled everything else out to the best of his ability.  Then he set up an appointment for an EMG with a Neurologist who specializes in this disease.  He spent about 2 or 3 hours doing all of the tests and confirmed ALS based on El Escorial criteria.  They tested my arms, legs. back but I don’t know how many muscles.  I more than qualified according to the doctor’s notes.  If you are in the U.S. you may want to look at the link below, or the Mayo Clinic as another person suggested.  I wish you well and try to remain positive.  I’ve had ALS for 14 years and I still can do many things, but many I need assistance with.  Good Luck!      https://www.als.org/local-support/certified-centers-clinics

 

[Lisa Ryan]

Thanks Duane, I am in Canada but thinking of possibly going to the Mayo Clinic. I think that is a good idea, will cost me a bundle but I don’t know what other options I have except just wait till they are good and ready to make a diagnosis.

My EMG on Sept. 11 consisted of a total of 11 minutes of EMG and they tested 8 muscles, nothing in my back or trunk or hip.  I know exactly how long it took because I recorded the appointment with my iphone.  Some muscles were only tested for 30- 45 seconds.  This is shoddy testing to me.  He obviously did not want to find anything.  The first muscle they tested in between my fingers had denervation, after that he seemed to rush through the rest.

I wish you well and I hope you have very slow progression.  Thanks for your input!

[Karl]

Hi Lisa,

I’ve had symptoms for about 8 months.  Lots of fasciculations, muscle cramps and spasms, some spasticity, muscle weakness in my feet and legs, lots of fatigue of the legs, loss of function in both my toes and feet.  A few months ago my pinky finger on the right hand started twitching and locking up.  I really started to get concerned then as I work on a computer and loss of function in my right hand could really hurt my ability to provide for my family.  I was also tripping and falling lots whenever on uneven ground.  My neurologist did an EMG and then I had an MRI on my lower back (l4&l5 vertebrae) but he would not diagnose me.  He told me to live life and enjoy it and come back 4 months later for more testing.  Waiting is difficult for me (and probably everyone).

I have been waiting and researching for the past 2 and a half months.  I do not have the babinski sign (at least not yet).  My understanding is that ALS involves both upper and lower motor neuron disease.  The babinski sign will reveal if you have upper motor neuron disease.  Have you checked into that?

During my waiting and researching I read several clinical studies that suggest that ALL pALS test high for mercury and aluminum.  If you research the symptoms of mercury poisoning you will see that they are very similar to ALS.  For me, I have no reason to think that I would have mercury poisoning (no career or anything associated).  I went to a Naturopath and he tested me and indicated that I have high levels of mercury and aluminum that are causing issues in my body.  That does not actually mean that I have high levels of mercury but that I have high sensitivity to mercury and aluminum and/or I get issues with where my body is storing the mercury (supposedly even a couple mercury molecules near a neuron will kill it).  Have you looked into this?  The problem is that mercury is stored in tissues and blood tests for mercury won’t show anything unless you force it out of the tissues.  My neuro just asked a few questions about this but did not test me.

My naturopath said that he needed to support my liver for about 6 months before it would be ready to detox the mercury from my system.  He put me on a strict diet (no wheat, corn, potatoes, tomatoes, peppers, sugars (except stevia), chicken, alcohol, soda pop, MSG, dairy, seafood, chocolate, peanuts…you ever tried sheep cheese?) that I have adhered to for months.  After a month of the diet my muscle spasms almost disappeared.  The fasciculations are there still but are mostly very mild.  The spasticity is definitely gone.  So maybe an extreme diet might work for you??  Have you looked into this at all?  Definitely avoid any neuro-toxins like MSG (in a lot of packaged foods).  You could start seeking out an experienced dietician or naturopath that could help with this.  3 months ago I would never have advocated for this just because I didn’t want to pay for it myself ($800 in supplements $300 for 2 appointments).  My results have changed my mind as life is more comfortable which makes it worth it.  My naturopath indicated that a healthy fully functioning liver could make all the difference even before detoxing the mercury.  I believe that is why I have improved with supplements and diet alone (I still have loss of function and lots of fatigue but all other symptoms are better).

My naturopath suggested that when my liver healed, it would be able to detox the mercury slowly on its own.  He also said likely in March we would start a mercury detox program (really hoping that that will bring back my function in toes and feet).

For now, I am waiting for my next EMG with my neurologist in January and then later that month another appointment with my naturopath who will again test my liver and levels of mercury.

Not really sure if any of that helps.

Karl

[Lisa Ryan]

Hi Karl, you have really taken to the natural way of doing things which i do agree with and have read much about this.  I have done a lot of reading on how food affects the body and I am trying to eat very clean avoiding any food that causes inflammation.  I have started supplements on my own and have been basically following an anti-inflammatory diet but  it includes some of the things that you list as not allowed for you as advised by your naturopath.  I have thought about going to see a naturopath to try to get help with this.  I have heard about mercury and read about removing toxins from your body.  The only exposure I have had to mercury, besides my tooth fillings (I only have one left that is a metal filling) was when I had a leaky water tank replaced.  At the very bottom there were 3  or 4 small pebble sized mercury balls floating in the last of the water that was drained.  I have no idea if this might have affected.  I lived in that house for 3 years using that hot water tank.  I think the process to remove mercury is called Chelation therapy.

I believe I was tested for Babinski sign one year ago and it was negative.  I will ask my doctor for heavy metal testing, it’s a good idea to think about having that done.

I hope that your naturopath continues to help you and I really hope your health improves.  Keep us posted on your EMG in January. Best of luck to you and thanks for your response 🙂

[Stephanie]

Hey Lisa.  I know for certain that Mayo is open to people from every country.  They have an excellent team who probably can answer insurance questions for you in advance as they regularly care for non-US patients.  Another step you might take that I see others recommended is to make an appointment with an ALS Association Certified Treatment Center (https://www.als.org/local-support/certified-centers-clinics ), although I don’t see they list any in Canada.  You may be able to find something comparable in Canada.  Once we received the Mayo diagnosis we moved my dad’s care to a certified treatment center near us.  They’ve delivered outstanding care and have clearly demonstrated their ALS expertise as they confirmed my father’s diagnosis and deliver us an integrated care plan.

 

Speaking from our experience and my layperson’s understanding, I understand that early-stage ALS is difficult to diagnose as there’s no definitive blood or other test that can be used.  We were even evaluated for ALS at an outstanding care center in a major metropolitan area only 8 months before our diagnosis at Mayo.  It was just that difficult to diagnose, which is why I recommend you find an ALS expert.

 

To your question about Mayo’s diagnostic approach, even they didn’t detect ALS from the EMG they performed.  The neurologist diagnosed it based on the symptoms (primarily extensive muscle fasciculations + other observed symptoms) combined with an extensive history I had been keeping over the 3-year period of not just the diagnostic work we had performed but regularly documenting his symptom progression.  I could point to specific abilities, dates, and deterioration.  Therefore, if you aren’t already doing so, I also recommend you maintain a history of your symptoms with dates (e.g., Dec 5, 2020 no longer able to open Ziploc bags, more out of breath after completing my morning 2 mile walk, etc.)

 

Regarding the EMG, the Mayo neurologist told me that if they had performed it with the intent to diagnose ALS vs. a variety of symptoms that my dad has that are much more complex due to extensive neck and spine surgery and damage that they might have analyzed other specific things in the EMG that would have indicated ALS.  Once we had the diagnosis another EMG wouldn’t provide any benefit.

 

I recommend you ask to be evaluated for  bulbar onset ALS and potentially even more specifically for respiratory onset (a subcategory of bulbar onset) as this is less common, is the type my dad has, and I’ve been told is especially difficult to diagnose.

 

And I can second Karl’s recommendation to consult a naturopath or functional medicine doctor as I personally see one and we added one to my dad’s care team this past year, providing a whole different perspective on potential root causes and treatments. Feel free to ask me more questions if you think I can help.  Best!

[Lisa Ryan]

Hi Stephanie, thanks again for the info.  I’m wondering if your dad had the split hand sign? I definitely have that but my Dr is not putting any weight in my clinical signs.  I think he is only using the EMG to diagnose which is extremely frustrating.  Is that your experience with your Dad, they were not evaluating his clinical signs enough to be able to diagnose him early in the disease?

[Stephanie]

Lisa.  My dad definitely has extensive wasting in his hands and weakness as described with split hand sign.  I tracked the hand wasting and weakness as one of the symptoms he was having out of diligence when we were trying to find out what was wrong with him.  None of the neuros we saw mentioned split hand sign but they did consider his hand wasting and weakness in the diagnosis at Mayo.  The big lesson I’ve learned is that you’re best served to find an ALS specialist as they see the combinations of symptoms more frequently even than other neurologists.  The specialists at our ALS certified center evaluate my dad’s symptoms and progression at every appointment, including muscle strength on a scale they’re tracking across the visits.  Another thing to consider is that once you’re diagnosed, the doctor may prescribe Riluzole as I understand it’s the most likely approved drug that slows progression.  Even though my father’s in late stage they prescribed it for him.  You may have even more options in Canada!

[Lisa Ryan]

Thanks Stephanie.  I am afraid to ask my family Doctor for a referral to an ALS specialist because I am currently seeing a neuromuscular specialist.  I think he might not want to refer me until this neuro has found something to report on but it is taking so long and all I have is “a progressive muscle disease”  and he also refers to a “possible” radiculopathy which the MRI does not show.  I don’t know why he keeps mentioning things like that and being so vague and dodgy.  I wonder if I bring this up he will think that I am just a hypochondriac or not allowing my current doctor enough time.  It’s so stupid that I have to be so worried about what to say so that I can try to find a doctor that will be able to help.  I go back and forth in my mind with should I ask him for another referral or not.  I have a phone appointment next Wednesday so I need to figure out what I want to say by then. 🙁  This is very tricky.

[Stephanie]

Lisa – from reading your challenges I realize there may be significant differences between the way we obtain care in the U.S. and Canada.  I return to my recommendation that you contact the Mayo Clinic in Rochester, MN or an ALS certified center to obtain a consultation and understand the cost to do so.  Advocate for your care and make informed medical and financial decisions.  I would hate if you give over your power to take care of yourself because of systems and practices.  If you were my sister I would advise you to find an ALS specialist and come to peace with the cost.  Whether or not you have ALS, getting a diagnosis and obtaining care as early in your medical issue can make a significant difference.  You’ll make the right decision.

[Lisa Ryan]

Thanks kindly Stephanie, appreciate all the helpful ideas and words.  I am going to email the Mayo Clinic and go from there.  With Corona they may not be taking any new patients but I agree with what you said, it is worth a try so I can find out.  I would just hate to go through all of that and still not have an answer but I guess I won’t know if I don’t try.  I get to doubting myself in my head thinking, it’s not “that bad”, maybe out of fear of knowing and then I try to say even if it is ALS, what would knowing early do?  I could stop searching and searching and analysing every bit of my body and actions every day.  Then I think is it better or worse to know.  I am just afraid, truly scared.  I want to know but then at the same time I don’t.  This is so very difficult to deal with and I can’t talk to my family, they don’t understand what I am going through.  My sister has anxiety so I can’t talk things over with her.

I hope for the best for you and your dad, I hope he does not suffer and that he can find some happiness, he’s got a great daughter fighting for him! 🙂

[Mary]

My story could be yours Lisa I am 2 years with symtoms first 2 emgs showed denervation in fdi muscle in hand then chronic neurogenic changes reduced recruitment in the one muscle its been hell I have seen 4 neurologist all saying that I have anxiety no wonder no confirmed diagnosis have wasting in right hand like yours constant aches and pains had 3rd emg which was apparently normal but still symtoms persist not sure what to do next have burning feelings spend my time analysing how I got this have an idea am based in Dublin seeing neurologist who did supposedly normal emg on Monday but not expecting much I think u have to be wheeled in for a diagnosis