Awaiting diagnosis

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So ... yesterday my brother was in the middle of an IVIG session, when the respirologist who did the CPET on 11 November turned up (one month anniversary of the test!). My brother had been told by his MND doctor, an endocrinologist and the community nurse, that even though he should have heard by now re: results from the CPET (stress ECG?), it must be all ok otherwise they surely would have contacted him. Not so ! Even though the echocardiogram he had done before the CPET came back normal, the CPET was "barn door abnormal", whatever that means. The respirologist is wondering if there isn't something happening with the heart, NOT the lungs. He's writing off months of breathlessness, which was the initial presentation, as anxiety. Not so sure. He's now ordered a second Stress ECG, as he doesn't think the first one looks at enough measurements. Hopefully the results will be back before Christmas 2020. The good news is the MND clinic's physiotherapist says he's presenting no physical weakness yet.

The irritating thing is my brother's now on a waiting list for the sleep clinic, with a 4 week delay, because of the delay with the respirologist, hasn't had arterial blood gases done, months after reporting shortness of breath, and if something comes up re the heart that needs medication, this may mean he is excluded from a trial his MND doctor has included him, for copper.

A bit of a rant, sorry. Nothing to be done but wait. I wish you all the very best.

Sx
 
I would expect a "barn door abnormal" [that is generally used to mean something very clearly abnormal] CPET (cardiopulmonary exercise test, a stress ECG, yes, but also more) to be explained to you expeditiously.

If any of the results are attributable to something besides MND, there is often an opportunity to at least keep things from worsening. I would certainly demand a copy of the report, as there is such a wide range of possible findings that you cannot know/we cannot comment on what this might mean in re MND or anything else, but you certainly have a right to know what was found, even in advance of a repeat test. Certainly, the findings could influence the priority of his ABG and sleep study, and might point to other testing that might permit more efficient timing.

There are definitely some potential dx coming out of exercise testing that might not have been appreciated in the echo. However, it's possible also that the results only reflect MND.

Best,
Laurie
 
Yes, I believe so Laurie, given the EMG results.
Sx
 
Has anyone heard of, or used a technique called breath stacking, and if yes, did you find it helpful to you in any way?
 
Yes there are posts here about it and some believe it helps
 
So, yesterday my brother is booked in for the stress ECG to investigate the "barn door abnormal" CPET results detected on November 11 and reported on December 11. The idea being, he'll have this stress ECG, then sleep studies with ABG analysis, then hopefully access some form of breathing support. He and his wife get the cardio clinic, to find the specialist has booked the wrong thing, no one is on site who can do the proper thing, and the next appointment in not until January, which puts the sleep clinic further off and behind it, possible NIV even further off ! I know it takes a long time to investigate MND/ALS but is this the sort of thing why? This just sounds like systems failure. It's very disappointing, and adds an unnecessary level of stress.
 
My brother’s ALS diagnosis was confirmed last week. No one has mentioned what sort but I believe it to be respiratory onset. He first noticed shortness of breath in Nov 2018, went to the doctor about it Feb 2019, put up with it because it was mildly concerning but not disabling until he started to fasciculate, basically all over, in June/July. From then on is outlined in my first posts, through to the IVIG trial which his second opinion neuro doesn’t believe has shown result, especially as what is his presenting symptom, his breathing, has progressed. Strangely he has been able to go on good walks, but has found difficulty standing and working, even low level gardening activities. This is deemed because of thoracic weakness, which showed up on the EMG. He has only JUST received a BIPAP machine, despite family agitating for it since August - a real system failure. Whatever else was being trialled or going on his breathing should have been addressed. His sleep study results show that probably for months (he has been waking up with headaches for quite a while) he has had very little proper sleep, which has probably contributed in part to his weight loss. Laurie is very kindly assisting with settings for his BIPAP machine.
The “good” news is his neuro has enrolled him in the upcoming stage 2 CU(II) atsm trial starting in a few weeks. The bad news is everything was so unnecessarily delayed that he is unable to establish a stable dose of Riluzole 4 weeks prior to the commencement of the trial.
S x
 
Is it possible to make your breathing function “lazy” by overusing NIV? My brother is using his BIPAP overnight and it’s working well. He is often short of breath during the day, but often not. If he decides to watch a movie during the day, is it not advisable to use BIPAP if he isn’t breathless at that time, and just wants to relax? Will it accelerate breathing problems/weakness? Thanks everyone. Sx
 
If he feels better with it during the movie or whenever he feels short of breath or like he wants it, that's enough reason to use it, because the muscles used in breathing will get more rest, and under those circumstances, the rest is better than not.

People who are breathing well enough on their own at any given moment will find it uncomfortable -- kind of like wearing a sweater on a sunny beach. So it can't be overused in that way, as long as the settings are appropriate.
 
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Thanks Laurie. The machine seems to be working well for him, and once his little gel nose pads arrive, should be more comfortable around the nose, as well. I’ve really appreciated your input, including what we’ve found on searching through the forum re NIV. S x
 
Sorry to hear about your brother's confirmed diagnosis and the incompetence he had to deal with during the dx process.

When your breathing is affected in ALS, without BiPAP you will over-stress those muscles, which hastens their decline. WWith other muscles, like your legs, you can do gentle exercise, and stop at an appropriate limit so you don't overdo it. But we can't just stop breathing. That's where BiPAP comes in to allow those muscles to rest.. So I don'tt think you have to worry about over-using the BiPAP.
 
My brother feels his fasciculations are notably calmer over the last few days. Does this mean signals (or something?) are starting to not get through? Is this one way that failure starts - the cessation of fasciculations? S x
 
It can happen that when the fascics slow down in a particular area, that weakness progresses. But it is not an absolute thing.

My advice is not to wait for progression to find him, or spend too much time on the tea leaves (I know you won't --just a general comment for newbies). ALS is most linear in the middle -- less so early and late. But it is still not a straight line.

By getting legal documents done, adapting his home, finding outside care resources if needed, staying ahead of medical equipment needs, etc., you are doing the constructive part of predicting, rather than the less productive part. But these are precious days in other respects, so also spend them doing things that he/you/any other family and friends enjoy, whether out and about or at home.
 
Laurie, such wise words. I am profoundly grateful. X
 
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