Could this be ALS / what should I do?

Status
Not open for further replies.

ClaraW

New member
Joined
Sep 22, 2020
Messages
1
Reason
Learn about ALS
Diagnosis
00/0000
Country
US
State
NY
City
New York
Hi!

I am at age where ALS is not a probable diagnosis but my symptoms have developed over the past 15 -16 months to a point where I believe this is what I have. I honestly don't know where to turn to get diagnosed.

It all started with tongue fasciculations back in June -19, then my throat, stomach, shoulders and arms started to twitch. I got myself an appointment at a local small town neurologist. They did blood work, MRI and EMG - all was fine and I believed I had BFS and not ALS. The odds of people having ALS at my age is against me and no weakness. Anyways, so then I calmed down for 1 month because I had no weakness whatsoever. That's when my hands started to get weaker and my swallowing became and issue. The twitching and tounge fasciculations persisted. I was fortunate that I could do and lung function test because they suspected my swallowing issues had to do with asthma or something else. My FVC was at 70% and they put me on asthma medication that did not work for improving my symptoms. I got sent to another neurologist - he said my symptoms were stress related and that I shouldn't be concerned about ALS at my age and with no family history. He didn't look at my tongue or anything but he wrote that my hands were slightly weak. The first neurologist noticed tounge fasciculations and twitching in my scapula and cramps in my left hand, hence he sent me to an EMG 1 month after symptom onset.

The second neurologist basically said I've made everything up/was stressed. I met him early October last year. At that point I had lost 15 pounds, which I later gained back by drinking smoothies with a lot of oil in them and consuming 4000 kcal daily. Since October -19 my symptoms have gotten worse so I have done another EMG privately, only tested 3 nerves because I had to pay and could not afford more than that , 2 of which showed motor (but no sensory) abnormalities in my left weak hand - consistent with carpal tunnel, these abnormalities were not present in my first EMG which I did in September -19. The EMG technician thought I might have carpal tunnel or hurt my hand during work. I had done literally nothing between the months of my first and second EMG so I know that my hand has not gotten damaged from work. Neuros suggested surgery to fix carpal tunnel and I refused because I have tongue fasciculations, swallowing problems and I cry a lot and this is not a hand problem. They stopped trying to help me and my symptoms have never gotten better. I've only managed to gain weight, otherwise everything is worse month by month. I have no good days where my symptoms are better, my overall twitching rate has decreased everywhere except my tongue. I choke on food often and my left arm is heavy whilst my left leg feels like it's made of wood. I can't bend my left leg and it's tight. I assume that's an UMN issue. I also have started to loose bladder control. My voice is noticeably hoarse and my primary care doctor thinks we should observe my symptoms for a couple of more months just to see what this develops into. I am in an European country that has very few good neurologists and very few neurologists in general so I don't know what to do. My primary doctor has tried to refer me to 10 neurologists but they have refused to take me in due to lack of resources according to themselves and also because they look at the last neurologists opinion which stated that I have no symptoms, though he never even examined me like the first one who was concerned. I want to see an ALS specialist and re-do my EMG and do a spinal tap, my second neurologist didn't allow me to have a spinal tap. I am afraid I'll die before getting diagnosed. My twitching is not a problem, except for the fact that it has spread to my jaw and nose. The weakness is the issue, I can't hold a pen properly (I am left handed). Here is a picture of my tounge approximately 6-8 months from onset.

I am not an anxious person. I've never bothered doctors like this before. I usually avoid doctors. My family and my primary care doctor believe that I am sick too, though they don't believe I have something as bad as ALS. My first neurologist did a really good job at excluding other possible causes for my symtoms like MS, MG, thyroid issues, back problems etc. The exclusionary work is almost done, it's just that I have no dx. You can't probably judge if I have ALS or not, if I was 60 I would be certain that I had ALS. With my age I am just highly suspecting something is wrong and because of lack of other options I believe it's ALS. Where can I find a good private ALS-specialist, I am tired of this process with these small town neurologists that see 1 case a year, if not less. My friends mother passed away from ALS and it took the same neurologists 3 years to diagnose her, she had almost full leg paralysis at dx. Should I be concerned about my tongue? My primary care is doctor is concerned but says "If you have ALS, you'll be dead in 5 years so it doesn't matter if you know now or later. Live and be present today." View attachment 19404View attachment 19405
 

TippiLeigh

Active member
Forum Supporter
Joined
Jun 13, 2020
Messages
59
Reason
DX UMND/PLS
Diagnosis
07/2020
Country
US
State
CA
City
XXXX
It’s not impossible to have ALS at a young age, just not likely, which is probably why you keep getting brushed off. I’m so sorry about that. The best type of of neurologist to see for these type off issues is a neuromuscular neurologist. Is there anyway you can do more research in your area to find one that you could travel to? My closest is 4 hours away. All you can do is keep being your own advocate with doctors. Keep asking questions. Keep going back. Not necessarily to get an ALS diagnoses, but so that you can get to the bottom of your health issues. No one should ever just have to “go away and see how things go”. That’s just laziness. I completely understand how frustrating it is to be brushed off. Hang in there and keep fighting!
 

lgelb

Moderator
Forum Supporter
Joined
Nov 5, 2009
Messages
8,921
Reason
Lost a loved one
Diagnosis
00/0000
Country
US
State
WA
City
Seattle
Not working between the two EMGs doesn't rule out carpal tunnel issues, which build up over time and can be exacerbated even by eating or sleeping. Your history does not suggest ALS, but there are numerous reasons for muscle/nerve problems that can appear in young adults, including respiratory issues, from muscular dystrophy to motor neuropathies to viruses. So it is completely inaccurate to say, "the exclusionary work is almost done."

ALS centres where you are include Umea and Karolinska. That is where I would go, to obtain a definitive diagnosis, even if it's one that you don't expect.

Best,
Laurie
 
Last edited:
Status
Not open for further replies.
Top