[Lisa Ryan]

Thanks John for the very thoughtful reply.  Isn’t it unfortunate that it is such a long process when the doctor cannot identify what the problem is ?. I’ve only had one muscle biopsy but I’m curious if you’re willing to say what they found on your MRI that looked like als?  This situation has to be taken day by day, when you’ve been in virtual uncertainty for years about what is going on in your body it’s very scary and depressing and the feeling of helplessness to me is overwhelming.  It’s sad I can’t feel better about my Dr but I just don’t know why it all takes so long to get any diagnosis.

[Lisa Ryan]

Well, after listening to the recording from our phone conversation I realized That I misunderstood what he was saying to me initially about not having his muscular dystrophy I found out through listening to the recording that he’s doing the genetic testing to see if there may be some other Jean related to the Gene that showed up that might explain my symptoms.  I literally gave myself hope that was not there for one day. I am glad that I didn’t make a deep dive into muscular dystrophy stuff because someone explained it to me that I am only a carrier I cannot have it without two genes showing up,. Well I’m back where I started from which is not a great place to be in. During the phone appointment he mentioned ALS saying it was very unlikely that that’s what I have and then he mentioned it again saying that I was tested for Lou Gehrig’s before and I just found it odd that he keeps mentioning it to try to negate any idea that it may be that. So I don’t know where to go from here and literally lost. I’m not able to somehow just live without knowing what’s wrong and go for the week so I can see my wrists forearms and right thigh and ankle are still becoming smaller.

I truly do not understand at this point with all the testing that I have done and all of the illumination of everything I can think of how it is that I could be experiencing what I am and not have a diagnosis I don’t understand this I just can’t believe that I’m sitting here with nothing, no further ahead than a year ago.  I am very upset and I’m mad and sad frustrated angry all of the above to do anymore I feel helpless

[Lisa Ryan]

Kathy, I don’t know what to think, I want to be positive about it but there are things he cant explain away.  He is being sneaky and leaving what he wants out of his reports, didn’t mention my abnormal FDI which had abnormalities along with wasting and clinical weakness.  I’ve lost trust and faith in him and I feel he should be able to give some kind of diagnosis but he is always non-committal about everything and at this point I feel he will never go against the opinion of the Als doctor that said no evidence of it 1.5 years ago, and even in that appointment I was only examined by his assisting doctor.  I really don’t know what I am to believe anymore so I don’t really feel good about anything, I am still frustrated and no further ahead.  He wasn’t even professional enough to tell me that the gene is for limb girdle muscular dystrophy.  I am sure that he did not want more questions from me if he was to mention it.  He was trying to get off of the phone before I had even asked him my questions.  I find that it was wrong not to be upfront about what the gene was related to.  I didn’t know to ask, I thought it was some nothing gene.  Anyways, I am not feeling re assured after today.  I am trying to figure out how I can see a doctor that hasn’t seen me before so I can have a thorough assessment.

[Lisa Ryan]

Just an update from call.  I am deflated and frustrated and angry that I never get any answers.  He saw my videos of my intense fasciculations and seemed to throw out the Cramp Fasciculation Syndrome right away that I was diagnosed with. Same old thing, cant stop it, I have it worse than other people because of the Syndrome blah blah blah.   All discounted even though they have spread to my upper body and I mentioned my increasing atrophy.  He said that you can have muscle loss from aging and not using your muscles and 30% loss from the CFS.  Hmmm well case closed then right….

He said my nerve blood panel was negative.

The blood panel showed an abnormal gene ANO5 but that it needs to be combined with another gene for it to be diagnosed as a muscle disease of some type.  He just said that maybe he would ask for genetic testing and counseling at this point.

I had my list ready and went through my atrophy and weakness, almost collapsing on the stairs due to hip and knee weakness, massage therapist can see progressing atrophy.  told him about having shortness of breath and that its being looked into but nothing found so far.  Told him about tripping when going up stairs or curbs, seems like I can’t or I don’t lift my right foot up high enough to clear it.  Told him my balance is still not good and I stumble and side step each day.  No response to this.  I told him that his fellow didn’t do a clinical exam when I saw him in September.  He just said well we will do one in September.

So after all my worry and researching of my symptoms and talking to others with the exact same symptoms he said he thinks it is “unlikely” that it is ALS because he did not find active denervation on EMG.  Period end of story, he will not entertain clinical symptoms at all it seems.  If he did he would have checked reflexes and other things correct?   He keeps referring back to 2019 when the ALS’S fellow did my clinical exam and EMG by himself and said no ALS.

No idea where this leaves me.  Perhaps I am a Psycho Hypochondriac and I am making all of this up.  I believe i am not being taken seriously.

I didn’t know that apparently all you need to be considered for MND is Active denervation and he did not see that so I guess I am perfectly fine.  Nothing to complain or worry or think about.

Sorry for ranting.

[Lisa Ryan]

Thanks so much everyone from the bottom of my heart for your help.  I can’t tell you how grateful I am that I found this site and that so many people want to help others, such good people! 🙂

Richard, I have seen that video years ago, it is very good, actually once I watched it, that is when I had a gut feeling that I had the same thing going on.  Thanks for your reply. It is very sad.  I saw a message from his daughter that said he had passed away 🙁

Nina, I’m really sorry to hear about your diagnosis and what you went through.  I wish it was as simple as just asking for another emg with another doctor.  I am not able to do that but I can ask my current doctor to do another emg asap.  Thank you

Hi Bill, well I have the same scenario as you…he says he doesn’t “Think” its ALS but that doesn’t sound very definitive does it so hes watching for progress.  This is very hard to deal with to always go away with nothing.

Thank you Veronika.  My doctor is overly tight lipped, he speaks very slow and I can tell very clearly that he is really not being upfront, for whatever reason he is using.  It’s glaringly obvious that he is putting most of the weight on the EMG or he would have tested my reflexes or Babinski sign or a lot of other things he could use but he just continues to say there is not “enough” on the EMG to satisfy him which is unbelievably stressful to me.  It’s like all I am is a set of limbs to be tested for EMG, he is not interested in the quality of my life either, same as your doctor.  Sorry you are going through this as well.  The best to you and your hubby.

 

[Lisa Ryan]

Hi David, I plan on recording it because I simply cannot absorb what he says when my mind is running 100 miles an hour trying to get answers and explain the symptoms I have.  I wish there was some kind of an advocate group for those who seem lost in the system.  I do realize it does take time and I would be perfectly ok with that if I felt that I was getting a thorough clinical exam and a non rushed EMG each time.  I’m so sorry you have this horrible disease.  take care…

[Lisa Ryan]

Hi Nancy, thank you for your response, it makes me feel less alone in this!  It helps because I am very hard on myself and always feel the reason I leave feeling angry that I didn’t get what I needed is because I am too shy to question a doctor.  I do feel intimidated and I worry by asking too many questions that they will write a lot of my symptoms off to having anxiety.  I am going to try not to rush my questions and let him say everything he needs to.  I think it might be easier on the phone than in person because I am only speaking to the Doctor, not him plus another person.  My main worry is that I still won’t get any answers and I will go on having these issues and still have to wait to get worse.

You said you are getting a second opinion…where are you on your Journey to diagnosis of your health problems if you don’t mind me asking?

 

[Lisa Ryan]

OOPS, I think i entered my answer when it wasn’t complete.  Kathy I have seen 3 neurologists but one didn’t examine me, the other one was an ALS specialist.  He examined me once in 2017 and gave me a diagnosis of cramp fasciculation syndrome.  I went back to see him a 2nd time but his fellow (dr. learning the specialty of ALS) did the entire examination.  The specialist came in for a few minutes at the very end to just confirm that the other doctor saw only minor things.  In between I was referred to a neuro-muscular specialist who i still see.  He is taking his time, we have ruled out everything that I know of.  Sometimes he is hinting that als is still on the table he just isn’t seeing it right now he said but that’s why he is monitoring me.  That’s all I know he doesn’t say much.  I cannot see another specialist because I am still seeing him.  Our medical system does not really allow more than 2 referrals so I am not able to see anyone else.  I wish I could go to the united states to a Mayo Clinic and get some fresh eyes on me.   I agree about doctors learning should not be doing this alone.  My second appointment to the ALS clinic was botched because the new doctor was alone.  He did not see large MUAPS or a chronic change in my Tibialis muscle that was found 6 months earlier by the neuro-muscular specialist.  I also had a couple of very brisk reflexes which he said were all normal in his report.  So frustrating.  Same thing happened this past September, the doctor who was supposed to be examining me and was learning did not do any clinical testing but put in the report that he tested reflexes, gait, occular something, babinski.  HE DID NOT!  I don’t know how they can get away with this.

[Lisa Ryan]

Hi Dagmar, it is only a telephone appointment this time.  I do have a list ready but he is very coy about answering things which makes me have to ask for clarification all of the time and then I feel like I am just badgering him with clarifications.  I was very upset about the student doctor again, this has happened twice and to me it just derails me right of the bat.  It changes the dynamic to more of a less serious natured appointment and there is joking around going on.  I will try to be as assertive as I can I am just not confident that I will get the answers I need because if he doesn’t want to give specifics then how do I force him?  He has ruled almost everything out and when I try to get him to give me something he always says, a slow progressive muscle disorder……..That means nothing to me so I ask like what and he just says there are lots of rare genetic muscle conditions.  Again, that means nothing to me.  When I flat out asked about ALS he just said that if it were that, he would expect to see A lot more denervation.  Again what does that mean?  It’s like playing a game that I am always the loser of.  Then I wait until the next appointment wondering and waiting, then it happens again and again.  He obviously does not know what is wrong I guess 🙁

[Lisa Ryan]

Hi Romy, first I am saddened to hear of your dear sweet twin, such a tragedy.  I hope you reach out for support wherever you can, you need that help.  I will ask for an EMG for March which would be a 6 month span between the last one.  I know that time will help you with your great loss.  Stay strong there are better days ahead!

[Lisa Ryan]

Thanks for all the input, much appreciated.  Kiki, I am struggling with increasing atrophy and stronger fasciculations and cramping presently.  They do need to see denervation in a few places but I haven’t met that criteria yet I guess so I am being monitored for changes.  I will ask about the neurofilament light chain markers, I did not know about that.

I am getting a call from my Neuro this coming Friday at 8:30 am.  I will worry until that day because I usually build up my expectations and think I may get answers but come away disappointed usually.  I will be receiving the bloodwork results from numerous nerve and muscle panels.   Hoping to get more info. Thx

 

[Lisa Ryan]

I might give my local chapter a call to see if they can suggest anything.. that’s a good idea. What is wrong with these doctors?? Can’t they take people seriously, why do dismissive.. so frustrating!!

[Lisa Ryan]

I will.  At this point I am just noticing very big muscle twitching in my thigh and my biceps and near elbows.  I also see more thinning of my forearms and hands.  My right thigh is getting very flat on the front and right side whereas my left thigh is better 🙁  I am scared to have a confirmation of ALS but I want to know.  I could call and make an appointment for another EMG, they wouldn’t say no.  He told me if things change to let him know because I am under a wait and see protocol.

[Lisa Ryan]

Ok, thank you for the info.  I wish you the best!

[Lisa Ryan]

Thanks for the well wishes Frank.  If I do get diagnosed with this my dream is to visit Hawaii.  I love traveling so much and with this Covid going on, I haven’t been able to look forward to that yet but I will take a trip asap!  What a lucky guy to live in Paradise.  The sun and salt air will be so good for your mental health and with a powered wheelchair, that is sweet freedom!  I wish I could do that!  The mind body connection is so important, think beautiful positive things while on your tropical travels in your new wheels! Hahaha!  I am buried in snow and cloud in Northern Ontario, I can only hope the winter goes by fast so I can get outdoors!  Stay well my friend! X

[Lisa Ryan]

Hi Bill, that is exactly my confusion because I can see obvious atrophy but I still have use of my hands and arms/legs.  I don’t understand it really

[Lisa Ryan]

Thanks for the replies!  Dagmar …I have read your story and I am happy to see such success and determination that has paid off!  You are an inspiring person, so positive and strong.  Thanks for the recommendations.  I don’t have a diagnosis but I have a gut feeling..and all of the signs.   What bothers me is the rate of muscle atrophy I am seeing. It’s scary.  It’s very noticeable to me from week to week.. I have never been a person to sit around but I am going to see if I can do some other light exercises as you have suggested, thank you.

Marianne,  sorry you have been diagnosed with this.. I’m glad you found some exercises that you can feel comfortable doing.. a couple of years ago I tried yoga but I could not hold my position at all and felt so off balance.. there are lighter styles of Yoga that could work but I gave up trying to find something after the twitching became so intense that I can’t stand aggravating it more than I need too ?.  I am on the go most days of the week, keeping busy doing household stuff which does use all my muscles but I find I am noticing I can’t do things without weakness and joint pain.. I am afraid I have MND and I feel like I need to conserve muscle energy but I feel lousy either way..

[Lisa Ryan]

Hello, I too have pain, I do not have a diagnosis yet but I have experienced what David has said about the fragile ego and arrogance of the specialists.  I too have had to talk over the doctor to be heard and even still I do not get answers to my questions, he swiftly changes the subject or talks over me and continues his train of thought.  This is very frustrating.   I have also heard him say pain isn’t a feature of ALS..

[Lisa Ryan]

Hi Kathy, sorry to hear about your diagnosis 🙁  I believe my Neuromuscular specialist suspects ALS.  He hasn’t ruled it out.  My last EMG was in September where he found chronic denervation in two of my right leg muscles, Tibialis and Medial gastronemius ??  I believe I have split hand syndrome and the muscle between thumb and index finger had abnormalities and wasting.  He is being very cautious saying that we are just going to keep an eye on things and he ordered bloodwork for rare nerve and muscle diseases.  The results should be in soon.  I think he is suspecting it but said because I don’t have widespread changes on emg that he said he doesn’t “see it”.  He wont rule it out though.  I have twitching and cramps, lots of symptoms that fit.  I am losing hope each week.

I hope you will get a plateau in your symptoms.  What was the main reason for your diagnosis….EMG?

[Lisa Ryan]

Sounds wonderful there Frank.  How lucky your kids were to have grown up in such a beautiful place!  I don’t blame you for not going back to Maine, I’m not too far from there near Toronto Ontario and If I had a place I could go to like Hawaii where I was a citizen, I would never return to the cold either.  I will post an update when I get one or after my next appointment.  Thanks for the kindness 🙂

[Lisa Ryan]

Thanks Bill.  I also think if I do have this it is LMN dominant.  My atrophy seems to be the biggest feature along with cramping muscles and fasciculations.  I believe I can see that my tongue is narrower now 🙁

[Lisa Ryan]

Hi Bill, thanks for all the info.  I guess I was just mistaken about weakness before atrophy.  I can see what you mean that stronger muscles will make up the shortfall of the weakened muscles…makes sense.  Did you get a diagnosis of PMA instead of ALS if you don’t have any upper motor neuron signs?  I have a lot of stiffness but I don’t know if it is just osteoarthritis or age or UMN.

[Lisa Ryan]

Hi Jeff, thanks for your reply.  I didn’t realize that you could be diagnosed with als and still be very strong, most of the time it seems like people have lost use of a limb before diagnosis,…from what I have read.  You seem to be able to keep your body in good shape by exercising.  I am not actually performing a type of exercise except I have always been a busy person always doing physical things.  I have been able to still paint walls and lift groceries up stairs and run around after 3 grandchildren…but it does take a lot of my energy and I feel if I overdo it then I will be really tired the following days.  It seems like it might be a balancing act of sorts.  I have been twitching since 2016.  At first it was just lower but as of 2020 it moved to upper body areas so now i have widespread twitching but it is always the very worst in my calves and feet.  I have neurogenic changes in my right calf and that is where it started.  I understand how you might feel more kindly towards your fasciculations.  That is a good way of looking at it!  I wish you the best!

[Lisa Ryan]

Hi Frank, thanks for your comments, I appreciate them.  I am truly sorry to hear of your struggles.  I can really empathize with all of the people that are living with this disease.  I am glad for now you are still able to use your right hand.  What is strange about my forearms is that both the left and right are equally wasted but my left hand is very hollow where my right hand is stronger and isn’t as wasted.  I am sure I have right deltoid wasting, my shoulder looks very strange, I also think my upper back muscles are wasting, my massage therapist thought that.  Both of my feet have really thinned out so they look equally wasted.  I don’t know about my situation but someone on facebook has said that with my symptoms I 200% have als or if not it would be a miracle if it was something else.  They are experiencing the exact same things I am.  I am trying to deal with this uncertainty and it is very hard to understand which muscles are wasting and if it is symmetrical etc.

I truly want to say I do understand what you are going through and the mental strain of having to rely on others for your care.  That is what scares me the most, I am a very independent person, having relied on myself most of my life never asking for help.  I hear you loud and clear on that.  I will send you best wishes for now!