Question: I'm a 44 year old white male. Aproximately 1 year ago I was a Drill Sergeant in the U.S. Army, thus I was very active. In March of last year, I got a severe lung infection, bronchitis, pneumonia, or something. In April I failed a PT test. I was unable to run for more than about 2 minutes before I ran out of wind, started staggering, and felt like I'd pass out. The 1st doctor I saw blamed it on my age and left it at that, but it didn't get better. On Sept 17th I found a new doctor. He sent me for a Pulmonary Functions Test. I was diagnosed with Restrictive Lung Disease, I measured about 73% of Expected Lung Capacity. I was initially diagnosed with a Pulmonary Embolism, but later tests ruled that out. Since then I've had about 60 blood tests, a CT scan, a PQ scan, a Right Heart Cathertization, a cardio stress test, and a pulmonary cardio stress test at the University of Utah Hospital. Most recently, I've been seeing a Neurologist as my Pulmonoligist suspected Muscular Dystrophy or Pompe Disease. EMG testing of my arms, legs, and spinal muscles ruled out the Muscular Dystrophy, and probably the Pompe Disease, but we will likely send some special blood/dna tests to the Mayo clinic to absolutely make sure I don't have Pompe Disease. I've had a broncoscopy, and the likely next step with the pulmonoligist is a lung biopsy. My symptoms are that I've lost approx 1/3 of my lung volume, I have a manual spirometer at home that I often play with, as in 1993 I had tubes in each lung due to traumatic crush type injuries. Before this started I could inhale 4500-5000ml, after it started I could only inhale 2500, after working with it I got it up to 3000ml, but no higher. - I have near constant headaches - I no longer have to exercise to feel short of breath. I find myself slowing down while walking because I start breathing heavy. - Air tastes, and has done so for a long time. It’s a flavor I cannot describe. It’s like my lungs are full of a heavier than air gas that I cannot get rid of. Even when I inhale deeply. It’s more like I push this gas to the sides of the lungs than remove it; and what I inhale only gets to the center of my lungs, never really filling them. It’s more of a feeling in the back of my throat than a taste on my tongue, but again indescribable. - I have the resting HR of a marathon runner (47-60BPM), but the working HR of a severely obese couch potato. Just getting up and walking around for a few minutes will raise my HR into the 120’s or higher. - There are times when walking where I feel like I’m not quite in control of my leg’s speed/ direction. It’s the oddest feeling. I slow down and it goes away? - I don't sleep well. I only sleep with sleeping medicine, then irregularly, and rarely for more than 4-5 hours. - Fatigue, most of the time I exist between barely-functioning and existing - Any movement raises my heart rate dramatically. Thus working with my wife, her HR was 100, and mine was 165. Thus I tire rapidly when I do anything as my body rates it as aerobic exercise. - I have constant muscle aches, mostly in my legs & calves. My legs ache on the outside from the knee joint and up about 8 inches. This area feels like it’s being pulled taut or is constantly flexed. - Chest constriction. It’s felt for months like my chest is banded, or restricted in some way. I simply cannot expand/fill my lungs like I used to. It fills like I run into a solid wall when I try. Like inflating a balloon inside a bottle. It often feels like there is a weight pressing on the center of my rib cage. Summary, any ideas, we've ruled out anything common or normal, and are now looking at rare things like Pompe disease (1:60,000). My symptoms match Pompe, but early testing says no. Any other ideas. Thanks much for the help. XXXXXXX

Dr. Mittal, I'm sending you copies of my PFT, broncochallenge, and cardiopulmonary exercise test results. These are the only tests I actually have copies of. As you can see at rest I showed acute respiratory alkalosis, which as I understand it is too little CO2 in my blood stream. They discard this due to possible anxiety. Frankly, that's nonsense. I was sitting motionless on an exercise bike at the time. Perhaps this is a significant clue that's been overlooked. What I read about this relates it to hyperventilation, something I've never done, but have seen and helped treat before. Could this relate to the weird taste/feeling in my lungs all the time, like I've gotten some type of chemical fumes trapped inside them? They didn't measure ABG at peak exercise due to institutional idiocy. University hospital's policy is that to insert a catheter, which would make a blood draw while I'm exercising child's play, requires a resident insert it. I offered to insert one in myself before the test began, but. . . Anyway, he was unable to get a blood sample while I was pedaling the bike, despite 3 tries and bruising the heck out of my hand. As far as I know this is the only ABG measurment we've taken. I do have an appointment with my pulmonoligist on Wen., so any questions you can think of, or any numbers you need from tests we've ran, I can get them, as a non-medical person, I just don't know what to ask for. I'm thinking we may have missed something in all of this testing that'd help diagnose the cause of my sudden loss of lung capacity, and exercise ability. Perhaps you're right that there is some heart problem, but I've had numerous EKG's. Sept. 17th when I switched doctors he gave me one, had me run for a few minutes and gave me another one. Then before, during, and after the Rt. Heart XXXXXXX I was hooked up to an EKG for hours. Also during the exercise test. The exercise test was ludicrous. They insisted on putting me on a bike, when my problem is when I run, then made me pedal slower then I ever have in my life with basically no resistance for the first 8 minutes or so. The last 1-2 minutes it suddenly went from no resistance to massive resistance so they could get my heart rate up. If I'd ran at a slow speed on a treadmill for 2 minutes (moving 100% of my body weight, instead of 1 leg at a time (15%?)) they'd have actually gotten some useful information. I wouldn't have wasted all day driving to Salt Lake had I known what they were going to do. Yep, leg fatigue, I don't ride bikes up the shear sides of mountains, EVER. Other tests, I just got a clean XXXXXXX of health from a brain MRI, with metal injection. I've had my hips x-rayed for spinal problems. We did a high resolution CAT scan. I did show very high levels of CK enzyme? In my muscles once, but the retest a week later was normal. I've shown some kind of liver enzyme problem twice I think, but more in depth tests showed no serious issues. I did test really low on vitamin D, and took pills for that. Other than that, I pass one test after another. The cardioligist seemed to feel my heart was ok, would you still recommend the Holter monitoring? Seems like a good idea to me, because my HR jumps 40 points just getting out of bed and walking a short distance, without any noticeable increase in breathing rate or difficulty. YOUR QUESTIONS: I also need some information- Smoker? Nope, never. Alcohol use? Nope, never. Snore? Very little to none. BP? Usually fine, since this started I've been testing borderline high blood pressure. 185/85 or so??? Weight? 220, about 25-30 pounds heavier then before my lung problems, didn't change me eating to reflect my lack of exercise. Height? 6'0” Hypertension? nope Diabetes? nope Any swelling? nope Any vein prominence? Not now, hard to find my veins now. If I work out a lot my arm veins are visible from across the room. Any muscle tenderness? My legs ache above the knee constantly, and my calves ache sometimes (see original post) Urine OK? A bit dark and smells mediciny at times, but basically OK Backache? no Any headache? Had a constant headache since the week before Christmas, started when I inhaled the antiseptic for a broncoscopy. Before this I didn't get headaches very often. This one ranges from background annoyance, to missing work 3 times. The neuroligist put me on Neurontin, which helps, no OTC medicines touched my headaches. Sweating? I sweat profusely with even minor exercise. I decided to include the symptoms/history list I sent my doctor recently. After the snowblowing incident, I stripped to my shorts and lay on a towel on my bed dripping sweat and having my first, and hopefully last, hot flash. Diet? Lots of Mountain Dew to keep my eyes open. Probably could use some more fruits and vegetables. You have mentioned about 60 blood tests, a CT scan, a PQ scan, a Right Heart Cathertization, a cardio stress test, and a pulmonary cardio stress test. I am guessing they were all normal. (NOPE, see attatchments). The cardio stress test was normal, and very easy, except that my heart rate got much higher than it should have, and my blood oxygen level dropped. Why are all these exercise tests geared for 80 year old arthritic patients, even when I ask them to make them harder? With the multitude of doctors I've seen, and the dozens of tests, I still haven't been able to get a single doctor to come out into their parking lot for 3 minutes to watch me run so they can see what happens. Don't get it. Instead they have me do tests that 'prove' I can do something much easier than what I tell them I can't do. It's like I take my car into a mechanic and say it can't go 70MPH, then he drives it around the block at 30MPH and tells me there's no problem???? I was in great shape a year ago, able to pass the Army PT test at the 17 year old level, even though I'm 44, yet they test me like I'm a 350 lb. Couch potato. I went from running 2 miles in 15 minutes to only being able to run ¼ mile at a time. When I run for 3 minutes at my old training pace of 8MPH, which is all I can do now, and only if I hang on to the treadmill, my HR goes to 180-185 and my blood oxygen level drops from 95-97% to 85-88%, and it's gone as low as 81%. I'm trying to restart some exercise, I do the run test just to see. A year ago, I could run 2-3 miles at that pace. Waiting for your response, XXXXXXX

Dr. Mittal, Thanks for your suggestions. Your assessment agrees with my own, that my heart is compensating, as much as possible for the decreased lung function. My heart is actually quite healthy, but my lungs don’t deliver the oxygen they should. I was able to track down some answers to some of the questions you asked. I was first misdiagnosed with a pulmonary embolism from a CAT scan, this led to the PQ scan, an ECG, and a leg ultrasound. All showed no signs of a PE. The ECG made them suspect some heart issues, which led to the Right Heart XXXXXXX The visits with my cardiologist showed no heart problems, except borderline high blood pressure. I was 135/85 today. - My thyroid profile showed no problems. - The bronchochallenge showed that albuitirol has no effect on my condition. Even with high levels of histamines injected into my system. - I tested high for CPK muscle enzyme once, but not in the two tests since. - I tested high of aldolase enzyme, test only ran once. - I used Dulera for a few days, until I first saw the pulmonoligist and he told me to quit as it wouldn’t do me any good. As far as a BiPAP, I have no idea what happens to my oxygen levels when I sleep. As stated earlier, I don’t sleep well very often, but despite my pulmonoligist being located in a sleep clinic, he’s never discussed my sleeping issues with me, though he’s very aware I have sleeping issues. I’m not thrilled with my pulmonoligist. He’s ran tons of tests, but I’ve come to consider him more of a technician than a doctor. If he can’t see a number on a test, he makes no attempt to treat it; he hasn’t treated me in any way in the 6 months I’ve been seeing him, at least not once the PE was ruled out and I was taken off the blood thinners. No inhalers, no sleep studies, no repiratory therapy, etc.. He told me last week that it’s time for me to get a 2nd opinion, and his office is collating all my tests and making a copy of my file for me to take to the Denver Jewish Respiratory Hospital so I can talk with many experts at the same time. He also told me that the idea I can taste air is insane and impossible, and that I should never mention it to anyone again (I didn’t tell him that feeling has lessened a lot lately). When I tried to talk to him about some significant changes that have occurred since I started taking Neurontin, prescribed by a neurologist I’ve seen very recently, he dismissed it out of hand as merely subjective. At that point I shut up, he’s my ticket into the respiratory hospital, so no need to upset hit. The neurologist told me I probably had a form of muscular dystrophy. Later disproven with a leg, arm, and spinal muscle EMG. He put me on the neurontin for a pervasive headache issue and to help with muscle pain. I took 500mg during the first day with no noticable effect so was going to quit taking it. His office said it took a few days to have much effect. After a few days I found it did help my headaches diminish, and dim my muscle aches some. The real surprise was when I used my manual spirometer. I’ve been stuck at a maximum inhale of 3000ml for nearly a year, when I used to do 4500-5000 regularly. Even at 3000 my chest would ache for hours after a couple of inhales. Then I picked it up and hit 3500 which shocked me. I’ve been working with it several times a day for the past week or so and have gone as high as 4100ml, without long lasting chest aches; most times I’ll get 3300-4000, but I can only stand to do 4-5 inhales at a time. The feeling of my lungs being trapped in a bottle is gone, my chest moves some now, and I can use my diaphragm again. Don’t laugh, but I can yell again; I used to train Army Drill Sergeants how to use their diaphragm to yell, but last April I no longer could. Now I can yell a little bit. My diaphragm is weak, and I cannot do anywhere near what I could, but it’s moving again. The strange thing is this hasn’t helped my exercise tolerance at all; I need to relearn how to breathe. I feel like I’m operating on top of Pike’s Peak, like my body’s always short of oxygen. My hands get tingly quite regularly now, which is new. My oximeter readings don’t support this, as I’ll feel really short of oxygen but it’ll still read 94-95%. But I breathe heavily more often walking around now, than I did when my diaphragm was locked up. Sometimes it drops into the 80%’s with only a bit of walking. They suspect I have Pompe disease, and we’ve sent blood to the Mayo clinic for a DNA test for it. We also sent out for a heavy metal blood test. Due to the feeling that I have something stuck in my throat, which started Sunday morning when I swalled the Neurontin (200mg/twice per day), I saw my regular doctor today. He’s sending me to an ear, nose, and throat guy to scan my throat. He suspects acid reflux is messing up my esophagus flap (lung/stomach), but wants to know for sure. After a year of nebulous medical answers, I’d love something concrete as well. Thanks, Sorry I’m so long winded XXXXXXX

Dr. Mittal, I guess, since I only have 37 hours left to use my final response I'd better do it. I won't be able to let you know if I have Pompe disease or not. Not too sure what difference the name of my executioner makes. I suppose I just needed someplace to vent. Someplace where I wasn't treated like a lab rat. The reality is I feel worse on my best days now than I did when in my past life I stayed home because I thought I was terribly sick. Example, last night I was hardly able to get any sleep. After 1/2 hour at work I went home to bed, slept for a few hours, then returned to work. Woke up feeling like someone had clubbed me in the back of the head with a 2x4. Not sure how long I'm going to be able to keep my job, even though they've been wonderful working with me. The totally unexpected side-effects of the neurontin, allowing my lungs to expand some, has provided the only faint glimmer of hope in this entire mess, still, if I hadn't been using a spirometer on my own, I'd have never noticed it. I try not to allow myself any hope, as it's too painful when it's yanked away. I felt some hope when sent to a neuroligist, yanked away when he said "you most likely have some form of muscular dystrophy." Hope when I passed the EMG test, yanked away when he called me to come back in for a spinal EMG for Pompe. Hope when I passed that, yanked away when he told me all that means is I'm not in the later stages of Pompe. Unfortunately, the symptoms of Pompe disease match mine very well, even down to the greatly enlarged calf muscles and proximal muscle soreness and weakness. Whether it's that or some other debilitating wasting disease matters little. Right now, I just push myself through one miserable day at a time. Fortunately, I have a wonderful family, which is what keeps me going. Treating the gastritis, BiPap, using steroids, etc. Seem to be about as useful as putting new paint on the deck of the Titanic, but I feel better when I at least try, even as I realize it's likely hopeless. Each time I do anything I wonder if it's my last time, which makes it hard to enjoy anything. Still, I'm trying to enjoy the best health I'm ever likely to have. XXXXXXX

I'll try to deal with it. I'm going to go see a counselor, which is supposed to help with such things (though I don't get how), probably within the next week. Somehow I'll try to find some NEW life that has some type of enjoyment and meaning to it, but at the moment I'm just existing. A diagnosis would help, as I'd at least have some ideas as to what to expect, possibly even some useful treatments. Might even be a miracle and I have something that's actually recoverable so I can get my active life back, but I'm not expecting that. ? Could the massive headache I woke up with, which has gotten better in the 5 hours I've been awake, be related to low oxygen levels while asleep? I'm wondering if I should have some sort of sleep test done. Thanks XXXXXXX

Dr. Mittal, Your comments intrigue me. I've started to think that somewhere we've missed the boat on what's actually wrong. Your comment, "There is definitely a possibility that the headache is due to the low oxygen pressure. I am worried there may be an associated high oxygen tension as well." I don't really understand any of this. I've had the arterial blood gas test once while at rest. The result was "at rest, arterial blood gas showed acute respiratory alkalosis and normal oxygenation..." What does this mean? My chest just feels abnormal all the time. I'm at almost 3 months with a nonstop headache.