Mom had Bulbar onset ALS, now I am having concerning symptoms.

[Crista54]

First, thanks for everyone who takes their time to respond of these threads. ALS is so devastating and the willingness to help others while going through it is truly selfless.

My mom was diagnosed with sporadic Bulbar onset ALS in 2017 at age 70 and passed in 2018. I was her primary caregiver. I wish we had had genetic testing done at the time but we didn't. Fast forward to now, I am 53. About a month ago I noticed some muscle twitching in random places, foot, hand, shoulder, face. It is intermittent. I also noticed that sometimes body parts like my finger or arm will just jerk. I've been exhausted and just feel generally weaker than normal, especially in my legs. However, the function is there. I made an appt with a neuro but cannot get in until the end of May. I realize these symptoms in and of themselves are not necessarily indicative of ALS. I also have had a bunch of weird tingly and buzzy sensations on both sides of my body which would tend to lean away from ALS and toward something else.

However, my real concern is that in the last couple weeks I have noticed my voice is getting lower or hoarse and my mouth is full of excess saliva. I have a globus feeling int he back of my throat and feel shorter of breath than normal. I am not having any trouble swallowing anything (water, food, pills), but seem to have sticky stuff at the back of my throat that I have to keep clearing or swallowing and then cough. I also noticed my uvula is pointing way to the side, not straight down, and when I say Ahh it tips forward. I read this can be a sign of a weakened vagus nerve.

With my mom, she was having trouble swallowing and was choking on some foods long before her voice started to change. What typically comes first? Trouble swallowing or voice changes?

I have three kids and am trying not to let the fear take over. I have read that if my mom had a genetic mutation I have a 50% chance of inheriting it, although not necessarily of developing the disease. Thanks again. You are wonderful. Crista

 

[lgelb]

If CA is anything like WA, you are going through the height of tree pollen season. Your PCP can weigh in on your uvula position. As you say, the rest is very non-specific and suggests a close look at sleep, stress, and diet.

It would be unusual to have familial ALS present 17y before your mom's and it does not sound like there is family history. Adding it all up, ALS seems very unlikely. I am sorry for your loss.

 

[Elsielouise]

I am sorry for your loss. I don’t know if my story may help you at all but if you search via my profile you will see I posted about how I felt after the diagnosis and loss of my precious Mum (thread found here: 12 months of worry). The sensations I felt began nearly two years ago now. There has been no progression.

 

[Crista54]

Thank you both so much for taking the time to respond to my post.

ElsieLouise I am so very sorry for the loss of your mom. That's so hard. I am very glad your fasics have not progressed and I appreciate your take on trying to live your best life. I am so trying to do so.

Unfortunately, I can tell something is very wrong with my body, all of a sudden. Is it ALS, I don't know. However, it seems to be getting worse. I am now short of breath. My whole body feels weak and shaky in addition to the things I talked about above.
Is that typical with ALS?

Thanks again.

 

[lgelb]

No, it's not. I'd see a PCP who can assess and reassure you as to your state of health.

 

[Crista54]

Me again,
So unfortunately things have progressed a little bit. I am now needing to cough when I drink water especially, like I'm aspirating a little bit. This past week there were a couple times I tried to swallow and literally couldn't get the muscles to do it for a few seconds, like a throat spasm maybe? It was extremely scary. My chest/breathing feels heavy, sometimes like I can't get enough air, even though I am. I may be seeing atrophy in my hands but I'm not putting too much stock in that as it is crazy making. Overall I am exhausted and mildly nauseated. I have been eating very little because of this and because I hate the feeling of coughing after. That might be why I am also overall shaky. I'm also experiencing a weird buzzy feeling in my core and arms that comes and goes. I know that isn't really an ALS thing but I have seen some places where it says ALS can have sensory effects even though it isn't a normal symptom. Fasics that come and go pretty much all over whenever, but definitely over and over on distal edge of my left hand.

This all feels really fast for possible progression, unless I am mistaken. It has been about 2 months since I remember feeling totally normal. My mom's bulbar onset progressed over what I remember as being many more months.
Neuro appt is in late May.

With greatest appreciation,
Crista

 

[lgelb]

Plain water is the hardest thing to drink. Even sugar-free flavors in it would be easier, and there is juice, etc.

Again, while you're waiting for the neuro appointment, you can see a PCP who can listen to your lungs, etc. and make any appropriate referrals.