Debiliating fears of ALS

[HarleyQ]

First of all, I dearly thank everyone who takes the time reading my story. I‘ve read the sticky and the forum rules, so I am aware that another thread about twitching might be annoying, and I sincerely apologize for that. But I am really desperate after many month of debiliating fears.
In february 2023 I (39y, female, no meds) first realized muscle twitches in my left foot and within 2 weeks it spreaded to my thighs, twitching was literally all the time in calves and feet, occasionally also thighs, arms and abdomen.

Being a GP myself, I really tried hard to be rational about this and went to a neurologist a few weeks later, who reassured me that this was unlikely ALS but eventually due to anxiety. However, he also said that ALS can never be completely ruled out and we have to want and see, which kickstarted my debiliating anxiety.

Over the summer the twitching subsided and got less severe only to return with full force in october 2023 (calves twitching non stop, occadionally other Locations). Since then I live in fear every single day, that additional symptoms like cramps or weakness might occur (non of this occured yet, clinical weakness ruled out by a GP friend last week).

I have done tons of research and of course I found several studys that confirm my greatest fear: fasciculations can precede weakness and other symptoms by many month. I called my neurologist again last week and his answer was still the same: as long as twitching is the only symptom, I will have to wait and see if any other symptoms occur.

So here I am, being in this dark place and desperately seeking a little bit of relieve. Can ALS really present that way in the initial phase? Do I have to live like this from now on, waiting what other symptoms will show with no chance for relieve? Sorry again to bother you with this and thank you from the bottom of my heart to everyone who may answer.

p.s.: EMG was not recommended by neurologist, because any irregularity that could show up would kick me into even more anxiety.

 

[Nikki J]

You are a 39 yo female. The twitch first group is almost all males over 50 and carriers of an aggressive sod1 mutation. Further most of these people develop obvious weakness within a few months at most and even more have some irregularity on clinical exam when first seen.

You don’t fall into the risk groups for twitch first, you have had normal exams and you have twitched for a long time.

You can choose to live on fear of a highly unlikely outcome or not. You don’t have to live in fear. Consider that there are thousands of people in this world who are known FALS carriers. They are the people who if anyone should live in fear but most are living their lives and not obsessing. If you are on a dark places that has driven you here get help for that

 

[HarleyQ]

Dear Nikki, thank you so much for your answer, it is very much appreciated! Also thanks for your infos regarding the twitch-first group, I didnt know that.
The genetic aspect is also something that is haunting me for quite some time and adding to my fears, since my dad (75y) is currently under evaluation for FTD, also exhibiting symptoms that could point to ALS (weakness in legs, foot dropping).
Since I have two kids, of course I also worry about them being affected in case of a genetic mutation.
I have so much admiration for people who just live their daily life while knowing to be gene-carriers. I feel so pathetic that I am not even able to get over some fasciculations (and my dad also has no confirmed Diagnose yet).
Again, thank you for your time and kind words!

 

[Nikki J]

Sod1 that I mentioned for twitching is not one of the mutations that is known to associate with FTD and anyway IF your dad has it (I hope not) the majority of FTD is not associated with ALS mutations. The biggest culprit for ALS ftD is C9 I do not believe any of my family twitched first with ALS. Every one of us had failure/ weakness

Re your dad’s motor issues, aside from age, some motor dysfunction is common in pure FTD.

You are leaping across bridges that you do not need to cross

 

[lgelb]

As well, if there were truly a genetic form of ALS to consider, you would not be experiencing onset at the same time.

As a health outcomes researcher, I would rephrase what your neurologist said. It is not that you have to "wait and see" if there are more sx, it's that no one has any reason to believe there will be any. Therefore as Nikki notes, there is no rational way to live your life except to note that you have benign twitching and look for triggers so as to make it less troublesome. If you cannot take the rational approach, that is the rationale for seeking counseling.