Calling On the Experts -- Muffy Too Please (LONG)

At the risk of starting another "thing", I am respectively and politely requesting input from the experts. I am at a point in my diagnosis/treatment that I feel I really need to be on my game.

RECAP: Began having trouble breathing at night last summer (with occasional daytime issues). Pulmonary function testing showed only slightly below normal readings (I don't have the specifics of these tests but can request them). Went for sleep studies. Diagnostic study report:

RESPIRATORY EVENTS:
Apnea-Hypopnea Index (AHI): 17.4
Obstructive 8.1/hr, Central 0.0/hr, Mixed 0.0/hr
Apnea 8.1/hr, Hypopneas 9.3/hr, RERA 1.6/hr
AHI 12.7/hr supine; N/A/hr prone; 19.7/hr left side; 22.7/hr right side; 40.0/hr REM; 10.0/hr NREM
Mean oxyhemoglobin saturation 94.3%; Minimum was 76.0% in REM and 75.0% in NREM.
The chest wall and abdomen moved paradoxically during most events.

IMPRESSION:
Moderate obstructive sleep apnea with severe oxyhemoglobin desaturation.

Went 10 days later for titration study. Summary from that:

With nasal CPAP at 11 cm H20, 2.5 obstructive apneas, 3.4 central apneas and 2.5 hypopneas. Minimum oxyhemoglobin saturation was 91%. At this pressure, she had REM sleep but no supine sleep.

After being on cpap at pressure of 11 for two weeks, an overnight was done. This is the letter I got about this:

The result of your overnight oximetry test showed several periods of low oxygen (I was not given the specific number, but the report I have showed me going down as low as 78% for up to 3 minutes). These may be times you were in REM sleep or on your back.

They changed my pressure to 13.

Now – here is the documentation I have that shows the reason they changed me to a bipap after two more weeks and a second oximetry:

Since starting nasal CPAP at 11 cm H20, an overnight oximetry showed persistent oxyhemoglobin desaturations in a pattern suggesting they occurred during REM sleep. CPAP was increased to 13 cm H20 and overnight oximetry was repeated. This actually showed worsening of the oxyhemoglobin desaturation.

The diagnosis of obstructive sleep apnea was based on the observation of paradoxical rib cage and abdomen movement during apneas. This pattern can be seen with diaphragm muscle weakness. [My name here] also has a diagnosis of Limb-Girdle Muscular Dystrophy which can involve the diaphragm.

Given [My Name here] observed worsening on CPAP, I believe the diagnosis of obstructive sleep apnea was in error and what was actually seen was weakness of the diaphragm resulting in apneas during REM sleep. In favor of this is an overall decrease in abdomen movement compared to ribcage during all stages of sleep.

REVISED IMPRESSION:
Diaphragm muscle weakness resulting in apneas during REM sleep when chest wall muscles are less active.

Was switched to bipap machine at IPAP/EPAP 12/6. But remember I started reporting where the bipap did not change pressures consistently -- blah blah blah and ultimately ended up on the ventilator. Here are my current settings:

S/T AVAPS
Dual Prescription OFF
Mode S/T
AVAPS ON
Tidal Vol 400ml
IPAP Max Pressure 23.0 cm H20
IPAP Min Pressure 14.0 cm H20
EPAP 6.0
Breath Rate 7 BPM
Inspiratory Time 2.0 Seconds
Trigger Type Flow Trigger
Flow Trigger Sensitivty 4.0 l/min
Flow Cycle Sensitivity 20%
Rise Time 3
Ramp Length OFF
Circuit Disconnect OFF
ALL ALARMS OFF (if we don't, the apnea and low tidal volume tend to go off a lot during the night).

Going into the set up menu, confirmed that it's set up as exhalation port.

Okay -- these are the settings that my doctor has concluded are providing me effective treatment. Her goals have been to keep my oxygen level up at night and have me sleeping reasonably well. At this point, she feels that we have achieved these goals and she plans on leaving things as is.

Now -- she has said we will do monthly overnight oximetry tests for about 4 months and IF they remain stable, we'll switch to every few months after that. I have purchased my own pulse ox monitor (wrist model) and check myself 2-3 times a week. The results are extremely variable -- some nights are fantastic with absolutely no desats at all. But there have been nights that I see sats in the low 80's, but they tend not to stay there long. The last one I did showed 84% for 17 seconds. But that was the ONLY desaturation below 90% the entire night. And I know for a fact that it woke me up because it occurred at 5am and I remember waking up at 5am and looked at the vent -- it was pushing pressure around 17.

Now -- I AM sleeping reasonably well and have found a slightly better energy level early in the day (later in the day I crash, but I was crashing ALL day before). I am still waking up a lot and know for certain (I've watched the vent monitor) that as soon as I start to really relax and fall asleep, my RR slows to 7-8 and the ventilator starts kicking up the pressure. The alarms are off now, but when they were on, the low tidal volume alarm would sound. My interpretation of this is that the ventilator takes a few seconds to get my volume back up, but it's not quick enough for the alarm not to sound.

Oh - one more piece of information: My two top notch neurologists have change my official neuromuscular diagnosis to Mitochondrial Myopathy (was Limb Girdle MD, but they both agree that Mito is more likely).

Okay -- now to the meat of this post (finally I know). I have a follow up appointment with my pulmonologist on the 21st. We will be doing an overnight oximetry AND a download from the ventilator earlier that week so she has all the information during my appointment to see if everything is really going okay.

Is there anything you experts feel I should be asking her or tests that we should be running to be absolutely certain of exactly what's happening and that I'm being treated effectively?

Sorry this is so long, but so much has happened. I feel that once I see her on the 21st (unless the oximetry or downloads show a problem), it will be determined I'm being TREATED and nothing much will be checked or done beyond that.

I thank you in advance and I promise to take all input in the spirit it is intended and NOT get angry or upset at what is said. I promise.

Forgot to mention that while on the bipap, oxygen was added. I was told I could have 1-2 liters and I bumped it up to 2. An overnight was done that qualified me for the oxygen and I definitely feel a difference with it as opposed to without it.

Also wanted to mention that I recall being told that an arterial blood gas would probably be a good idea to really get a good idea of the extent of respiratory failure. I plan on asking about this.

Greetings Madalot! It's great to hear you are sleeping a bit better. Even if you only reclaim the mornings that is better than no extra energy.

I don't know if I am an expert. With your case, I would rather hear from Muffy and -SWS. But, yes, I would expect both a PFT (pulmonary function test) and an ABG (arterial blood gas) test. In fact, since you crash later in the day, you might want to ask if those change as the day proceeds. Again, point out the symptom and the change over time. If the doctor does not order the specific test you might then wonder aloud if the specific test is needed. But you know how to work that sort of situation.

I also hope the situation with your DME has calmed down. I've been out of the loop for a bit, so I had not heard.

Hi John --

Thanks so much for responding! I've been wondering how you've been doing. Start a thread when you feel like it to let everyone know!

I've only seen my pulmonary doctor once since my initial consult where she did do the pulmonary function testing. If the results of that test are relevant and requested by anyone here, I'll work on getting copies of them. I know for certain that no ABG was done (I would have remembered that one since I understand they'd have to stick an artery -- yuck).

I will definitely ask her about another pulmonary test and ABG on the 21st and as you suggested question her a bit more if she says they aren't needed.

To the best of my knowledge, my DME hasn't gotten a new RT yet. I'm trying to stay out of his way for now so he can really focus on getting one.

Hopefully, more will chime in to give more input.

I hain't no expert, but it sounds like your medical team is on top of things. So to the extent you can give them information based on your continued efforts to educate yourself about the vent, the better they can help you, I would think.

As for tests, once you have a diagnosis and a course of action, tests would be mostly for judging efficacy of treatment, I would think. It may be that the main thing is trying things to see what makes you feel the best that you can. That can be somewhat trial-and-error in some circumstances, more than a matter of tests. That's just a wild guess on my part.

The nature of your diagnosis may mean that there may not be many rules-of-thumb to use. It may have more to do with your specific case. That, again, would make good communication between you and your team particularly important.

If that "Inspiratory Time" is a maximum, I might be tempted to think about trying a longer maximum, if it was me. But that is based on nothing more than my personal experience of needing a higher setting than that for myself for comfort reasons. That may, however, be a perfect setting for you.

Glad you are keeping at it and posting about your experience. It brightens my day when I see you post.

jeff

Hi Mad, I'll be waiting for Muffy and SWS too, but was wondering on what basis your neuros changed your dx, any further testing done to determine this or by any other process?

jnk wrote:I hain't no expert, but it sounds like your medical team is on top of things. So to the extent you can give them information based on your continued efforts to educate yourself about the vent, the better they can help you, I would think.

I think you're right there. That's going to be one of my main focuses -- figuring out exactly what's happening and how I feel and relay it to my doctor.

jnk wrote:If that "Inspiratory Time" is a maximum, I might be tempted to think about trying a longer maximum, if it was me. But that is based on nothing more than my personal experience of needing a higher setting than that for myself for comfort reasons. That may, however, be a perfect setting for you.

I can't answer for certain, but I think the Inspiratory setting is a maximum. When I first changed it from 1 to 2, I immediately found it way more comfortable. I may ask her if I can "try" 3 and see how it feels. I promised I would not make any changes without her permission.

jnk wrote:Glad you are keeping at it and posting about your experience. It brightens my day when I see you post.

Jeff, you're very sweet. Thank you for that.

DoriC wrote:Hi Mad, I'll be waiting for Muffy and SWS too, but was wondering on what basis your neuros changed your dx, any further testing done to determine this or by any other process?

Hey Dori --

My neuromuscular diagnosis process has been as frustrating as the breathing diagnosis/treatment. While I have been a "weakling" my entire life, nobody even considered that there was a medical reason for it. In my late teens and early 20's, I found friends and family expressing frustration and aggravation at my inability to do normal things or keep up with them during physical activities. I made up my mind to try to get into shape and really, really put an effort into a structured (and slowly implemented) exercise program. After six weeks of very diligent trying, I couldn't do any physical exercise more than about 6 minutes before I was totally exhausted and experiencing horrible muscle pain. I knew then that SOMETHING had to be up, but my attempts at getting medical help fell on deaf ears.

I know now that this is referred to as "exercise intolerance" which is a classic symptom of a Mitochondrial disease.

In my late 30's (yes, I spent 20 years feeling embarrassed and ashamed because it was obviously MY fault that I was such a weakling), I saw a neurosurgeon about herniated cervical disks. He noticed a significant weakness in my arms and asked me if it was new (thinking it was because of the disks) and I said no, that I was always like that. He did a few more rudimentary neurological tests and was astounded at the level of weakness in my arms and legs.

And I remember what he said and it was a HUGE turning point in my life: "I don't know if you have a Muscular Dystrophy or what, but there is something very wrong with you and I'm not touching you until you get this checked out by a Neurologist."

Since 2002, I have now had 3, different diagnoses -- Myotubular Myopathy, Limb-Girdle Muscular Dystrophy and now -- Mitochondrial Myopathy. We moved in 2004 and I left my first neurologist who said it was Myotubular. I am now seeing university hospital neurologists and both universities (the neuro departments and pathology) agreed that Myotubular wasn't possible because I didn't have the right "stuff" on muscle biopsy.

One of the reasons they are now going to Mito Myopathy is my eye involvement. Along with the limb weakness, I also have CPEO, which basically is that my eye muscles are slowly becoming paralyzed. They've been listing CPEO from the beginning, but I never really understood the ramifications of it until recently, especially considering that I'm experiencing significant problems with double vision. Turning my head to the left is challenging because my right eye won't move far enough in that direction for my eyes to focus properly and I always see double turning my head to the left - makes for a challenge driving I have to tell you. I'll probably have to stop driving soon.

If you look at the history here and then you add the breathing problems that cropped up last summer -- the entire package of symptoms is why the university doctors have agreed that Mitochondrial Myopathy is the most likely culprit.

Kathy,
I know I cant help but I am bumping this up in hopes you get more responses.

Jeanette

HI Kathy,
I was just wondering this morning how you were doing.
Thanks for keeping us posted. Continuing to send positive thoughts your way.

newhosehead wrote:Kathy,
I know I cant help but I am bumping this up in hopes you get more responses.

Jeanette

Thanks Jeanette --

I was going to bump it up myself, but you beat me to it!! Thank you.

Ms.Snuffleupagus wrote:HI Kathy,
I was just wondering this morning how you were doing.
Thanks for keeping us posted. Continuing to send positive thoughts your way.

Thank you. I appreciate the positive thoughts.

I'm going to bump this up again, hoping for a little more input.

Bless your heart!

You have my complete emphathy. I actually do understand how you feel better than you might imagine.

Though I certainly do not have myopathy, I also struggle with vision problems. You mentioned:

Madalot wrote:... One of the reasons they are now going to Mito Myopathy is my eye involvement. Along with the limb weakness, I also have CPEO, which basically is that my eye muscles are slowly becoming paralyzed. ... I'm experiencing significant problems with double vision. Turning my head to the left is challenging because my right eye won't move far enough in that direction for my eyes to focus properly and I always see double turning my head to the left - makes for a challenge driving I have to tell you. I'll probably have to stop driving soon. ...

Due to the problems with my cerebellum, my eyes have been doing the Cha Cha on me.

Of course, I also a scar at my focal point on my right eye. I do not know if this is a congenital defect or occurred when I was an infant. My neurologists, opthamologists, and even neuro-opthamologist do not know for certain. They do know it had to occur prior to being a few months old. They concur on this because I am "wall-eyed". That is, my right eye looks outward. This only occurs if the eye was damaged very early.

So, I only see out of one eye. I'm used to that. In fact, I actually have two fields of vision. I see forward with my left eye and have peripheral vision around the scar off to the side with my right eye. So, as I type this, I see the screen with one eye and I see out the window with the other. Just as you can never explain what depth perception is to me, I can not really explain what it feels like to have two fields of vision. I am completely adjusted to it. And frankly, it was not until the past few years that I actually realized how odd that is.

Unfortunately, I'm now losing control of my good, left eye. Yes, I can still move it left, right, up and down. But only if I don't want it to jump around. The lack of muscle control is odd to say the least. And within the past six months or so, I note that at the end of the day I fight to keep my eyes focused. SIGH!

There are lots of other visual things, which indicate I have a lot of problems with the coordination of my eyes and my brain. That coordination problem in conjunction with other symptoms led to the diagnosis of Sporadic OPCA for me. (More on a "diagnosis" in a bit.)

Due to these vision problems as well as the severe incoordination (when gets MUCH worse in emergency situations), I no longer drive. I fear I might hurt someone else if I do drive. I refuse to put my vanity ahead of the health and welfare of others.

If you are having problems with vision, you might find reading and many other interests elusive. I do have one word for you: "Plastics". Oh, wait. That's the wrong word. Ah, I remember. "Audiobooks". That's the word.

Seriously, there are numerous, wonderful audiobook productions. I use them as a way to keep my mind active, even when my eyes have decided to go on vacation.

Madalot wrote:... If you look at the history here and then you add the breathing problems that cropped up last summer -- the entire package of symptoms is why the university doctors have agreed that Mitochondrial Myopathy is the most likely culprit.

My previous neurologist put it honestly and clearly. Most neurologists, who are honest with themselves and their patients, admit they can put a name to the affiction and really help the patient about 33% of the time. Another 33% of the time they can put a name to it, but there is nothing they can do. However, the diagnosis does help everyone understand the WHY and WHEN of the progression. But unfortunately, in another 33% of the cases they just have no clue.

You fortunately do have a diagnosis. But you and I are in that second 33% group. It helps us understand the WHY of the symptoms. It helps us understand WHEN symptoms change. But there's nothing much they can do for us, other than treat the symptoms.

However, it DOES make it easier with a diagnosis to receive that treatment. I've watched a doctor spar with my insurance company and they backed down VERY quickly with the diagnosis.

So, you have my empathy. I wish I had words of wisdom. But I'm fresh out of those. So, perhaps some words of caring will help.

Hi John --

Thank you for sharing your personal struggles with vision issues. As aggravating as mine are, your's sound worse!! Not that this is a competition.

I have done audiobooks in the past and have resigned myself to the fact that I'll probably have to use them in the future. I don't like them as well though. For some reason, actually "reading" a book is more stimulating for me and requires more focus on my part than listening to a book. A lot of the time, I find my mind wandering and realize after a few minutes that I've missed a ton of stuff and have to rewind the tape/cd and start again. I just don't get as much pleasure from books that way.

My neurologists are pretty honest with me too and your assessment of how often they can diagnose and treat sounds about right. I'm falling into the category of while they haven't been able to give me a 100% certain diagnosis, they have a good "guesstimate" about what's causing my problems. But I also fall into the percentage where they can't treat or cure it. It's a matter of supportive therapy.

I'm not totally "onboard" yet with the stance that my respiratory issues are under control. My allergies have kicked up a bit due to new kitties in the house. That's okay and as I've always done in the past, I'm taking allergy medicine until I build up a tolerance to the new cats. But I've found that it's a little worse this time, compounded by the fact that I had a real cold a week or so ago. I found myself wheezing occasionally and having a very difficult time breathing. My doctor had given me an inhaler last fall, thinking that some of my daytime breathing issues might be resolved using an inhaler. They weren't and I never used it much, but I DID use it when I started the wheezing. And it helped a lot so I've been using it about once a day to try to ward off the problems.

Yesterday was an emotional day (my two teenage kids decided to pick Mother's Day as a day they were going to be real stinkers) and I had been upset and crying. When I was laying in bed watching TV, I was having a horrible time breathing. It hasn't been that bad in a long time, so I got up to use the inhaler, only to find the darn thing clogged up. Luckily, I had already refilled it and had a new one so I opened that one and used it. While I got some relief from it, I still had difficulty breathing. I hooked up to the vent/oxygen a little earlier than usual because of it. I found myself awake a lot longer than usual last night too.

Anyway -- probably more info than anybody needs, but it's why I'm looking for a little more insight as to what else my doctor might want to consider/test before making the decision that I'm being adequately treated at this point...