Weak Diaphragm

In August 2010, I began experiencing severe breathing difficulties. I've since been hospitalized on numerous occasions for trouble breathing. I've coughed up blood in the past and now become cyanotic (lips turn blue) once a week on average.

Strangely, every time I've been tested, my oxygen saturation has been normal. I've heard several diagnoses ranging from interstitial lung disease to POTS (I had several episodes of syncope when this first started). I haven't been able to wear a "normal" bra in over a year. I can't eat a full meal. I can't exercise. I can no longer sing. All of these things turn me blue. Literally.

I finally went in for an exercise stress test today and found out that my diaphragm is incredibly weak. As a 24-year-old female, my PEmax and PImax scores should be roughly 138 and -91, respectively. My scores were only 62 and -61. I have EDS III and probably POTS and Lupus (undergoing more tests), but I have no cardiovascular issues other than tachycardia, I've never smoked or lived with smokers, I exercise regularly (or try to), and am not overweight. The sudden breathing difficulty seems very...random. And frightening.

Has anyone heard of or experienced this? A weak diaphragm? Could this be related to EDS? I know we're prone to muscle weakness and atrophy, but I've been told by previous pulmonary specialists and geneticists that EDS shouldn't cause this. Help!

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So not really, but maybe relational in a second cousin once removed kind of way... My Motility Specialist at Hopkins brought that concern up to me just recently. He was talking about the stomach emptying, gastroparesis, and reflux tests I've had, saying he was curious about the strength of my diaphragm, and felt there could be some weakness exasperating the problem. He seemed to think that EDS could impact the diaphragm which also assists in motility. He also is theorizing that dysfunctional connective tissue may not properly interpret neuro signals which could weaken and atrophy as a result (a possible way to explain the sections of loss of tone in my GI). He is a researcher, but not researching EDS, just works with a lot of connective tissue issues in his specialty. Though his theory is speculative, I feel like it would explain a lot of my dysfunction. My only breathing issues however are triggered specifically from my esophagus, which can effect a nerve used when breathing and creates for me an asthma type reaction. I know lupus can effect the lungs in scary ways. Glad they are thoroughly looking at this and not just dumping it into the EDS dx. I hope they find a solution soon for you! Hang in there!

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Wow my daughter has breathing issues that come in bouts, and you know a weak diaphragm makes so much sense as she always tells me that the area of her diaphragm feels very uncomfortable! I thought she might have a hernia, as she has bad reflux, but her bouts tend to be when she is tired or has a bug of some sort, which always makes her loose tone!!
So could this problem come from neck issues some sort of nerve impingement?!!
My daughter had a visit with her Physiotherapist the other day due to her pulling something in her back that affected her legs, the PT explained to my daughter that she had very very poor muscle tone, I know that, that tends to be an EDS thing but my daughter is at University doing contemporary dance and works on muscle strength daily. Her PT is an ex dancer and knows about EDs but even he found her muscle tone issues abnormal!

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can you rule out myasthenia gravis? that can co-exist with EDS in some folks . . .

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Smilemommy: That definitely sounds related! Misinterpreted neuro signals...the doctor issuing the breathing tests did ask if I had any nerve damage (which I most certainly do, as most of us EDSers do). I'll have to look into this more.

kptocs: Good luck with your pulmonologist! Let us know how it goes. I have the same issue where my lung volume looks excellent despite being regularly cyanotic - I'm a classically trained vocalist who started college for musical theatre, so my lung volume is great as a result of constant singing.

jadecat: Yes! Nerve impingement in the neck! The doctor explicitly asked if I'd had any nerve damage in the neck. The phrenic nerves which start behind the ears and runs down the neck are the nerves responsible for diaphragm response. I have the same issue with muscle tone, too - chronically high CPK levels indicating atrophy, and months with a personal trainer spending 6 days/wk at the gym and not being able to increase any weights or reps.

yogateach: We haven't looked into myasthenia gravis. I've had several brain MRIs in the past year because they found lesions in my left temporal lobe in July 2010 and suspected I had MS. However, I've just had another brain MRI and the lesions were gone. I'll look into this, though.

Thanks for your responses everyone! Very helpful!

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Ditto on the MG. I have breathing problems and weakness. My pcp diagnosed me with mg. I'm on Mestinon,which helps. I'm still not convinced that it's all not due to EDS though as all MG test have been negative.

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Did you have a d-dimer or CT scan to rule out pulmonary embolism?

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My mom was passing out, short of breath for months before they ever checked/found pulm. embolism.

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My d-dimer has been chronically elevated for a while now, ever since they first checked it in August 2010. I've had several chest CTs (which is how I received the institial lung disease diagnosis from 2 hospitals that UM refuses to accept), and none have revealed PEs.

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