Confused and scared

[DalekSec]

Dear members,

First of all, I would like to say that I admire PALS and CALS in their constant struggle with this dreadful disease. I also hope that some proper drug will be found and released soon.

I would kindly like to ask you for and advice regarding my symptoms I have read the stickies (several times in fact) and I also know that MND presents itself in many different ways. Here is the brief history of my symptoms:

- I am a 33 years old male. Since mid July 2014, I am having a problem with constant body wide fasciculations, which are most pronounced in the muscles of my legs and feet (in every second I can see and feel several of them). I also have a constant fatigue and pain in my right leg which is increasing over time.

- All my blood tests came back normal. During September and October 2014 I was examined by the several experienced neuromuscular specialists. All my clinical exams were normal, except fasciculations and bilateral brisk (3+) risk reflexes. On the other hand all of my EMG's showed different results. One of them was completely clean, one of them showed +1 FIBS and +1 PSW in my L&R flexor digitorum brevis and R gastrocnemius (with decreased insertion activity) and the most thorough one (13 muscles tested), which was done on 23rd December 2014, showed some large (6-8mV) amplitude MUPs in my L&R extensor digitorum brevis, L&R extesnor digitorum brevis, L gastrocnemius and R opponens policis. However, this time no spontaneous activity was registered in any of the tested muscles (which as far as I know is good since this means there is no acute denervation). All my neuros independently concluded that these findings are consistent with a mild chronic bilateral L5S1 radiculopathy, that there are no elements of MND, and gave me the diagnosis of BFS. (Hooray!) Even though I was happy, this radiculopathy diagnosis was a little bit strange to me, since the MRI's of my cervical and LS spine didn't show anything important. But since they are the experts, I wasn't concerned much.

- With the passage of time, the pain and fatigue in my right leg increased; I have a constant awkwardness and fatigue accompanied by cramp like feelings when walking and standing (but fortunately no real cramps) so I try to avoid much walking. Also, 1.5 months ago I started to have constant fasciculations in my right hand (especially in my thenar area). Then I spotted I have some flattening in my right thenar area and that there one big dent there (I am left handed BTW). Since I haven't noticed any weakness or worse dexterity in my thumb, I hoped this was due to loss of subcutaneous tissue. However, when I showed it to my GP, he was concerned and refereed me to see a neurologist (again). This time I have scheduled an appointment with one of the leading MND specialist in Ireland. I have it next Friday. To be honest, this time I am really worried, since I know that fasiciculations with atrophy don't lead into anything nice.

If you have any suggestions/idea, I would be most grateful. Thank you very much for your time and consideration.

 

[Nikki J]

You certainly have reason to hope for another answer given all you have told us. But going to see an MND specialist should give you answers. Is it Dr Hardiman by chance?
There are certainly other causes for fasciculations even with atrophy and we all hope you will turn out to find them.
Advice? Try to stay calm,( easier said than done) prepare for your appointment. Organized history as you presented here and question list. Be prepared that you may or may not get all your answers then and there. If you do not make sure you are clear on the plan when you leave and know what is still being considered and what is ruled out. Once you are organized distract yourself and keep busy. Best of luck!

 

[alex34]

Dalek can we talk if you have a time ? But not under this title?

 

[DalekSec]

Thank you very much for your insight Nikki. Yes, it's Prof Hardiman alright. I try to stay calm and positive, even though it's not easy at the moment. But that's life I suppose...

BTW, I enjoy reading your posts, they are so kind and rational at the same time. I am also deeply sorry about your family history of ALS.

 

[Nikki J]

You are as you know very lucky to be seeing her. Let us know what she says
Thanks for the kind words

 

[DalekSec]

Well, to be honest, it depends on the definition of luck. I will find myself lucky is she says it's not MND (or anything else dreadful).
But, on the other hand, yes, prof Hardiman is one of the best experts in Europe in MND, so I am very grateful to be in her hands.

 

[DalekSec]

P.S. alex34 and jram303: I am sorry to hear about your health problems, but since I am not an expert in neuromuscular diseases, I can't help you much at the moment.

 

[DalekSec]

Hey guys,

I just wanted to write an update of my today's visit with prof. Hardiman. Here is a brief overview:

Her assistant neurologist did the usual clinical examination and she didn't find anything concerning. I also showed her the "atrophy" in my right thenar eminence. She said that, according to her, this is no real atrophy, and that even if it is, some noticeable weakness or loss of dexterity would be present.

After my exam was done, prof. Hardiman arrived in the room. She was very nice and friendly. I first showed her my fasics in my calves (which are very aggressive) and she wasn't impressed at all. She just said: "Oh yes, benign fasciculations...". I also asked her about this "thenar atrophy". She made a quick strength test, and repeated what here assistant said. Then she added: "So I guess you are probably worried about MND? Well... you don't have it". (It was such a relief. to hear that from her mouth.) Then I asked her about contradictory information about fasics being a precursor of MND. Here is her answer (fellow twitches, please pay attention):
1. As you know, fasics are common in patients with MND. But we don't look for fascics to suspect MND, we look for weakness, atrophy or change in reflexes.
2. Fasics themselves are no real indicator of MND or any other disease.
3. In most cases, fasics are of benign origin.
4. I have NEVER had a patient with BFS who progressed in MND. And I had a lots of MND (and BFS) patients in my clinical practice.
5. In most cases PALS don't even notice fasics by themselves. Usually their spouse, or someone else is the first one who notice them.

Then she repeated once again that I don't have MND, but for my peace of mind, she will order another EMG within the next couple of weeks. I would also like to add tat in the meanwhile I called my neuromuscular specialist who made my last EMG. She a univeristy professor with more than 40 years of clinical experience. She almost repeated the same words as Prof. Hardiman did. She also added that my EMG was in fact within normal ranges for my age group (i.e. many people around my age have worse EMG results than mine).

At the end of this post, I would just like to add several thoughts:
1. You can have many strange and annoying symptoms, but that doesn't mean anything sinister is going on.
2. Never interpret your EMG results by yourselves (unless you are an expert).
3. Believe in your doctors, they are the ones who are experts and who know your complete clinical picture.
4. If, for some reason, you don't think your doctor is good enough, go to a proven specialist, even if you will have to wait a little bit longer.
5. There are many scary stories on the net, but you don't know who wrote them and which information are (incidentally of deliberately) missing. You just cannot know the complete story and therefore cannot identify with it.

I wish everybody all the best,
Dalek

 

[Nuts]

Glad to hear the good news! Congratulations, and thanks for letting us know.

 

[ECpara]

DalekSec, congratulations on your good news! We are always so happy when a doctor gives the good news of no ALS! I loved your closing notes, I wish all our DIHALS could read them! Thank you!

 

[DalekSec]

Nuts and ECpara, thank you very much for your kind words. I would just like to add an update: Yesterday I had another EMG/NCS and this time everything was completely clean (I think 17 muscles were tested).

After talking to the world's best MND specialists, once again I would like to reassure new twitchers that if you don't have a family history of ALS and if several months after the onset of fasciculations you have had a clean clinical and a clean EMG, the chance you will end up with the ALS diagnosis is (almost) the same as for general population. Especially if you are younger than 45.

I wish everybody all the best and thank you for your support.
Dalek

 

[jamesond]

Dalek:

Congrats on your clean EMG! Did the neuros have any explanation for how the large motor units would be present five months ago but disappear by March? Was there any speculation on what initially caused the issues found in October?

James

 

[Clearwater AL]

Jamesond, so you're a health care worker... what is your relationship to ALS/MND?

 

[affected]

I've directed James to the new member introduction before posting in this section again, hopefully this will shed some light ...

 

[DalekSec]

Thanks James. Since Tillie kindly asked me to leave this forum, I will not continue this conversation. I hope my posts at least gave some reassurance to the new twitchers.

Kind regards,
Dalek