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Respiratory onset?
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ALS symptoms are elusive. EMGs are a good test… it’s not that doctors don’t know how to read them – – the symptoms just may not be manifesting strong enough to be identified by EMG.
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My wife on trilogy noninvasive ventilator and Oxygen most of the time especially at night .She constantly tearing from her eyes . She been using Restasis for years . Does anybody have the same problem? Please let me know.
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We saw a number of doctors at Mayo Clinic. Dr. Eric Sorenson is the neurologist we saw who diagnosed ALS (https://www.mayoclinic.org/biographies/sorenson-eric-j-m-d/bio-20054094). Applying was much simpler and less intimidating than I expected. I sent in an online request for appointment (https://www.mayoclinic.org/appointments). They followed up with a phone call within a week or so. We traveled from Washington state and they’re very familiar with hosting patients who travel long distances. The Mayo Clinic’s amazing in how they manage their schedules and integrate care. We had to book 6 weeks out to get our appointments all within one two-week long trip. Our situation was complicated involving internal medicine, neurology, cardiology, pulmonology, sleep study, and gastroenterology diagnostic work and doctor consultations. In the application, I focused on the diagnoses we’d received and the symptoms he was having that weren’t explained by the diagnoses (e.g., rapid weight loss, muscle weakness and atrophy). I made specific requests for some consultations (e.g., cardiology) but they assigned others (e.g., neurology).
Regarding the SNIFF test, we had that performed at the University of Washington Medical Center in 2019 so Mayo didn’t repeat it but it was helpful in the diagnosis. In one of Dagmar’s Sept 2, 2020 posts in this thread (thanks Dagmar!) she points out that EMGs are a good test. We had our Mayo EMG done before seeing Dr. Sorenson. He told us if he’d suspected ALS, when they ordered the EMG he could have asked for some type of special testing during the EMG that might have shown results consistent with ALS.
I’m happy to answer questions you may have. Peace!
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Hi Giselle
my husband started sounding like a teen male when their voice changes. Our sons teased him about going through puberty again, then it slurred. No it’s getting pretty bad. Some people can’t understand him and it’s mostly people that are hard of hearing so it must be his tones.
They put him on a bipap machine and he’s not adjusting to that very well. Everyday it seems like something new is happening. He has lost his taste so we are watching how much he is taking in. They can’t put in the stomach port, the Dr is afraid he won’t wake back up.
God Bless anyone who is going through this. It breaks my heart. -
Diana (and others with respiratory onset) – – I am sharing several tips that have helped me improve my breathing and helped in having others understand me better:
1. Practice diaphragmatic (belly) breathing to retrain from the habit of shallow breathing in the upper rib area. This helps stretch the rib muscles and lengthens inhalations and exhalations. Plus, I now “speak” using my diaphragm (like an opera singer would), which adds volume, and I can say more words with each breath. I have all I do in this blog post: https://alsandwellness.blogspot.com/2020/01/how-blowing-bubbles-helps-me-breathe.html
2. Low voice and low volume? Don’t give up! Just accept the fact that your voice is lower (better than no voice at all!) and then, use a voice amplifier to help others hear you. I wrote about mine here: https://alsnewstoday.com/2020/02/11/microphone-voice-hear/ I ordered mine from Amazon.
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Greetings. I am a 47-year-old female who is afraid she might have respiratory-onset ALS. It started back in January, with the development of what I can only describe as erratic, dysrhythmic breathing, sometimes accompanied by squeezing chest pain. The usual unconscious rhthym of breathing seemed to have disappeared, and I started to have difficulty coordinating breathing with talking, eating, drinking, swallowing. As it continued unabated and unexplained, I did various tests, including a pulmonary function test this summer and an arterial blood gas test, most of which were normal (the blood gas test showed “metabolic acidosis with complete respiratory compensation,” which my doctor declined to explain). Then in early September I developed what appears to be gastroparesis, still waiting on testing for that, and difficulty swallowing: I cough, clear my throat, and/or have a wet, gurgly voice after eating or drinking, and have to swallow multiple times per bite or sip. A modified barium swallow test did not show any dysfunction. How that’s possible, I don’t know. I’m also experiencing chronic muscle twitching in my chin, and for the past couple of weeks I’ve been short of breath even when I’m just sitting and talking, and I have some serious emotional lability making life difficult. My doctors are trying to tell me this is Functional Neurological Disorder brought on by trauma/anxiety, but that simply doesn’t explain the degree of disability I’m suffering from these bizarre symptoms. I know respiratory onset is rare, and to be followed by bulbar symptoms that appeared almost overnight would be unlikely too, but…. Any insight, advice, etc. you can share would be greatly appreciated.
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I should also add that, as was mentioned by another member in a previous post, I have experienced unusual chronic sinus congestion for quite some time, and about two weeks ago I started to have a hoarse, raspy voice due to excess phlegm that I can’t seem to clear. I don’t know how usual that is for respiratory or bulbar onset, but maybe someone else can enlighten me.
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Hi Sarah,
I am sorry you are struggling with these symptoms. Doesn’t sound very similar to my husband’s situation but that doesn’t mean anything bc each person is unique. I’m wondering if you have had unexplained weight loss and noticeable muscle atrophy? That was key in our diagnosis. Also he had wide spread fasciculations or muscle twitching. I would advise you to see another doctor if you are not satisfied or not feeling heard. Best of luck to you!!
Giselle -
Giselle: No, I have not experienced any unexplained weight loss or muscle atrophy, and I did read that is typical of respiratory onset. I have had some muscle twitching, in my chin, left arm, and left leg. I don’t know if it’s related or coincidental. I have another neurology appointment on November 12th, and I am hoping that my fears are NOT confirmed!
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Hi Tim Burr (7-2-2020),
I use an Astral150 non-invasive ventilator at night. I too experienced a runny nose and phlegm in the back of throat. My ALS neuromuscular specialist felt that these symptoms were not due to my als.
I mentioned this to my ENT in July. He Rx’ed Atrovent (Ipratropium bromide). I do 2 puffs in each nostril, twice daily. It has worked great.
I hope this is helpful.
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Hi Leslie,
Thanks for passing on this information. I will see if I can get the Atrovent. It certainly would be a lot better than all the soggy tissues in newspaper bags.
Tim Burr
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Hello everyone.
It’s been so long since anyone replied on this discussion but I was so happy to find it, I was hoping that someone may still read this. I’m new to this. I don’t have an official diagnosis yet but I have the SOD1 variant, likely pathogenic: Last week my pulmonologist finally tested my diaphragm and said that my PI & PEmax are both significantly decreased and the respiratory muscle weakness is related to ALS. MIP 40% and MEP 63%. I have had issues with shortness of breath, air hunger, fatigue, and feeling like I’m having a heart attack at times for many years. It’s gotten worse recently but this started in 1977. I’m 61 now, so when I was 15 was my first episode. I’ve been told my doctors my entire life that my lungs are fine and that it’s in my head. No one has ever checked the respiratory muscles until now.
My neurologist diagnosed frontal temporal disorder that I’ve had at least since 2014 and has not progressed in those 10 years although I have the symptoms similar to frontal temporal dimentia. That’s how we found this genetic variant. She was looking for that. My 63 yr old sister was recently diagnosed with Alzheimer’s. None of these have ever been diagnosed in my immediate family as far as we know. My grandmother had Parkinson’s. Both of our parents died at 74 and we never tested them for any of this. I have had extensive testing, including a spinal tap, and everything else is ruled out. I had an EMG but only of my left leg, left arm and middle of my back which was normal. They said they couldn’t test my lungs and didn’t see a reason to test my right side although that’s where I have intermittent fasciculations and cramping.
I have read about people with the SOD1 variant having the respiratory onset and that is progresses slowly. I am pretty convinced this is what is happening to me but I’m having trouble getting the actual diagnosis. My legs sometimes just stop working but then they start again soon afterwards. My left leg and arm go kind of dead at night sometimes but then come back. I’m on a bipap at night and my oxygen level goes to as low as 79 without it. I’m supposed to have another overnight oxygen test done but they haven’t delivered the equipment yet. I’ve read about the trilogy machine which sounds interesting. I think I need something new and I’d love a solution for getting relief while I’m awake instead of only while I’m asleep.
I would love some advice. I’m in Austin, Texas. I contacted Dr Appel’s office in Houston and they don’t do a 2nd opinion until I actually get an official ALS diagnosis from someone.
Thanks,
Lainey
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