Respiratory onset? Low MEP

[Rosebud44]

Hi everyone

Thanks so much for your time reading my message, I really appreciate it. 49F. Prior to the issues below I was in rude good health.

In April 2018, out of the blue, I started waking up 2-3 times at night feeling breathless. I'd sit up and the feeling would go away, I'd get back to sleep and it would happen again. I saw the doctor and we decided maybe it could be asthma. I started a preventative medicine, which didn't help. After a few weeks on the medicine I started getting fasciculations all over my body - chest, limbs, face. I assumed it was the asthma medicine. Eventually testing confirmed that didn't have asthma and I stopped the medicine. But the fasciculations didn't stop. I had a heart check, all fine. Blood test, all normal. I had a PFT and it was normal except for my MEP, which was 58% of expected. I had a sleep study which did not pick up anything, but at the time I was using pillows and sleeping propped up. I think I should have been told to lie down normally.

I saw a local neurologist, not an MND specialist. He referred me for an EMG. My limbs were tested and it all came back normal. Over the course of 2018 I lost a lot of weight - 60kg down to 53kg. It was unintentional, and I didn't notice it until it became obvious. I had a month or two of night sweats. I found exercise impossible, and even jobs like shopping were difficult due to fatigue. Gradually over 2019 my tolerance for household activities increased again.

My GP became concerned about my mental health - in short he thought the symptoms were all in my head and I was unduly worried about MND. I was sent to a psychiatric hospital where they treated me with all sorts of stupid medicines which would supposedly cure me. Well that didn't help.

In 2019 I saw a second neurologist in a different city He said my reflexes were abnormally brisk and referred me for an MRI that was normal. He said he was very concerned, he couldn't rule out MND and he would try and get me a diagnosis soon. I went back to my local neurologist expecting to get some further testing but he was adamant I had BFS, by now with cramps too.

Two further limb EMGs in 2019 and 2020 were normal. I had another PFT which was normal except for my MEP which was 47% of expected. I saw the second neurologist again in 2021 and he said it had been too long without progression so it wasn't MND, and could I please just talk to my local specialists. They just shrug off the low MEP as having "unknown significance".

I still wake up short of breath every single night. I sleep propped up on pillows - 2 under my torso and 4 under my head - as this helps. When I wake it is usually because I have slid down. The waking is worse than in 2018, but I have few other symptoms. Aside from the shortness of breath I have unintentionally bitten my tongue in the night about three times, waking me up. A couple of times I have woken suddenly feeling that my breathing was obstructed. I still get fasciculations everywhere, I can even hear them in my ears. I get SOB if I try to talk while walking/gardening or lying down or being in a swimming pool. I haven't seen a doctor since 2021 as I don't think they will do anything.

Also relevant, my aunt died with/of FTD/Pic's disease. She was told she was very atypical as she had it a long time - I think some of the relatives even thought that it was just how she was, part of her personality. Another aunt has fairly early dementia (late 60s) and another one struggled with many psychiatric diagnoses all her life. I wonder if she could have had FTD. My Dad is unaffected (79). His mother was an only child and unaffected (died early 80s). But her Norwegian mother, my great grandmother, died young of vascular dementia in the 1930s - I wonder if this could have been FTD or MND.

Do you have any advice for me? And does anyone in this group have a similar story?

Thanks again for your time, it's so kind of you to help strangers on the internet.

 

[Nikki J]

Respiratory onset als is usually very aggressive. I do not think I have ever heard of someone surviving even a couple of years from respiratory als onset without a vent or at least 24/7 bipap let alone seven years.
I would also expect other things in your pfts to have been abnormal. There are numerous causes of low mep not just als.

I don’t think we can help much here. You need to go back to your doctor. Perhaps repeat the pfts if it has been 7 years

 

[lgelb]

I gather the PFT was repeated in 2020 but the sleep study is from 2018. I would see a pulmonologist about repeating the sleep study. You can also do a "lite" version at home and lie down exactly as you usually do.

Like Nikki, I see no reason to worry about ALS or your family history, but I agree that your issues coupled with the abnormal MEP x 2 merit followup.

 

[Rosebud44]

Thanks very much for your replies and suggestions. Maybe I will go back to the doctors. I just get so frustrated as they don't do anything, I don't think they believe that I wake up short of breath all the time. I'll let you know how I get on. Thanks again.

 

[KimT]

If your MEP is that low, I would think your FVC would also be low. Did they do an MVV?

 

[Rosebud44]

Hi Kim

Thanks for your reply. I got distracted by that meeting in the White House, and since then we've had family staying.

I checked the reports from the respiratory tests. Everything was normal, or close to normal, except the MEP. FVC was in the 90s, and MVV was 120%. The testing was excellent- done in a very good facility. When my MEP was low, about three more staff turned up, they checked the machine, and made me repeat it multiple times to make sure it was accurate.

The later test when my MEP was 47% was done at a smaller private facility. I don't have the results from that.

I still haven't organised follow up tests. I know I can't be helped any further here until I take that step. It's so hard as I can't show them anything. "I wake up all the time short of breath" is easy to dismiss. I think they write it off as anxiety, but I know it's not., especially when I think back to how it started, out of the blue with no anxiety whatsoever. All I've been told is Benign Fasciculation Syndrome... but my night time breathing problem seems anything but benign. Sorry to whinge at you guys, I know you can't do anything!!
Thanks for reading though

 

[lgelb]

I would see a physio that specializes in cardiac rehab (there are specialty exercise courses, too, usually in hospitals for post-cardiac surgery patients) and get a regimen to follow.

Some people have very minor lung changes and/or a flippy heart that make it harder for them to get synchrony between their lungs and heart in exercise (and lying down in sleep is its own form of exercise; I would still look to complete the sleep study, which might show any movement disorder that might be contributing to that "exercise").

Cardiac rehab is targeted exercises to get the heart/lungs working better together. You may never run marathons but you should be able to feel better in daily life.

The good news, this study shows no reason to think of ALS.