hi! wondering if anyone has any advice or experience for what i'm dealing with. i hope this is okay to post, let me know if i should take it down!

**background of conditions i had pre-This:** autism level two, type one diabetes (diagnosed at twelve), childhood asthma (started at around nine, went away as a teenager), dysautonomia (originally was very much hypotension beginning when i was twelve and worsening until around fifteen or sixteen, i would regularly faint upon standing, usually accompanied by convulsions. late teens this morphed to more tachycardia than hypotension, so i stopped fainting as much but heart rate would spike to 160 up to 220bpm upon standing which was very painful \[usual was 80s when sitting down\]. i'm now on a beta blocker which helps with this). 

**description of general symptoms/weakness:** i think symptoms began when i was fifteen but might've had very mild symptoms earlier. at first it was mostly exercise intolerance and fatigue. within like eight months it got to the point where i had to get a wheelchair for outings longer than around 15 minutes, but i could still walk for up to 15 mins, gait was normal, breathing unaffected. i'm now twenty three and things have progressed a lot. i'm lucky enough to still be able to walk a little, but that's more like a couple minutes. my gait is significantly affected, i have to rock quite a bit to each side as i walk since lifting my legs is difficult (it's sort of a waddle). getting up stairs is extremely difficult: i can make it up four stairs max and to do that i have do basically a more exaggerated version of how i walk, leaning far to one side in order to lift the opposite leg enough to get up to stair. i can't get up from low seats or the floor without assistance. my arms probably cause me less trouble day to day, but i can't lift anything at all heavy, hold my arms above my head for very long, ect.. my right shoulder hurts a ton, clicks a lot, and is visibly asymmetrical with my left shoulder. it's given me nerve pain from my shoulder to back of my head but pregabalin had helped a bit with that. i use a wheelchair outside of the house but get around at home without it. am looked after by family as i can't do any iADLs. over the last five years i've had a couple EMGs, nerve conduction studies, single fibre EMG, repetitive nerve stimulation, an MRI, and a spinal tap. i've been told these were all normal.

**respiratory issues:** i first started getting shortness of breath related to my weakness a few years ago. i knew it was different from my past asthma as it felt like my breathing muscles were too weak to pull in enough air so i could only take shallow breaths, where as asthma felt like constriction in my throat. at first the shortness of breath mostly came in episodes. i got a spirometry done which was normal. but like my other symptoms this just kept getting worse. since the start of last year i was on the waiting list for respiratory testing, got seen in november and had a bunch of testing done (most of the results are in the attached image, the only ones that aren't are ABG \[results were okay, pCO2 44, pO2 85, bicarbonate 27, pH 7.4\] and supine spirometry which i think was around half the values of the seated one.. supine FVC was like 28%) which showed there was definitely Something Wrong. symptoms kept getting worse. new spirometry and ABG done (results in attached images) which showed values getting worse including now having slightly high pCO2 and bicarbonate. the respiratory doctor actually told me i had no deterioration and that my results were the same as the previous ones. it was only through asking the hospital for copies of the results for me to have filed that i found out. the symptoms i'm getting from these respiratory issues are very significant. i often feel like i'm suffocating or have a very strong urge to breath more (like if you hold your breath for too long) but i just can't, i feel woozy and at times have been very confused/disorientated (luckily that's only happened for relatively short episodes so far), i can only say a couple words per breath (less when breathing is worse) and only quietly, feel tired, weaker, harder to think and read, and so on. it's making my life significantly worse, i feel like i can't do or plan anything because i won't be able to manage it with these symptoms. i was referred for respiratory physio/'breathing retraining' but after hearing about my symptoms and what i'm already doing the physio only had a couple exercises to recommend which i'm doing but haven't helped and she's said she's not sure what else to suggest. 

**where i'm at currently:** i've tried to ask for treatment for the respiratory issues. i think that noninvasive ventilation might be worth trying (and from what i can find online i'd meet the criteria for it if i have a neuromuscular condition), given how much my symptoms are impacting me. so far any ask for assistance gets met with "you need to see neurology" or "you don't have a diagnosed neuromuscular condition and you struggled/got fatigued during the respiratory testing so it might have underestimated your abilities" (i don't even really understand that last part as they always take the best score so.. even if i get tired and then do bad they'll still take whatever is my best, and i've had spirometries done multiple times with same or worsening results. I've also only had these tests done during a "good" day). i was meant to see neurology yesterday but the neurologist got busy on the ward so it got cancelled and i'm waiting to be rebooked. i'm really scared that because my EMGs ect have been normal they'll decide it's nothing or that it's functional neurological disorder or fibromyalgia (things i've been told previously, though that was a few years ago before it got this bad). i don't really care what they say it is but i want access to treatment, if not for the disease itself then for the impacts (like my breathing). i really want the neurologist to agree to prescribing noninvasive ventilation or another respiratory treatment at this next appointment but i know i won't have a diagnosis yet. ***does anyone have any advice on trying to get that outcome as well as anything else i should be asking for?? do you think this could be a mitochondrial disease? and if you are on ventilation at what point did you get started on it?*** 

undiagnosed respiratory and proximal limb weakness deteriorating - questions/asking for advice