#things i've had ruled out : FSHD and multiple sclerosis (had brain mri and spinal tap) tho a nurse told me she thinks i should get checked

[flutterbyfairy]

i have a neurologist appointment in about a month that i'm quite nervous about due to previously being dismissed/not having my concerns listened to, so gonna post this to ask for some advice on getting Taken Seriously or if anyone knows things about the type of condition i might have about what i should be asking them to do/test.

might be quite long so putting it under a read more, and tw for medical stuff and doctors being dismissive. also i am So So Tired and therefore not able to think very clearly so apologies if i've messed up any of the medical info about conditions i mention and apologise just generally for the rambliness of my writing.

summary of why i'm going:

bunch of disabling symptoms that have continually progressed over the past 5+ years, including: muscle weakness, fatigue, muscle twitches/small spasms, nerve pain, blurry vision, lack of coordination (have this from autism, however has gotten significantly worse recently so might also be related to neuro stuff). first symptoms were difficulty having my arms over my head (like having to take multiple breaks while putting my hair into a ponytail because i couldn't hold my arms over my head for the like.. three minutes to do a ponytail) and blurry vision (that optometrist has said seems like might be due to a systemic disease because of how variable it is) since i was 13, which was seven years ago. i started getting more impairing symptoms when i was 15, and began needing a wheelchair for anything that required standing or walking for more than 10 - 15 minutes. i'm currently 20 and need my wheelchair whenever i leave the house, i can't leave the house or do things around the house often, i can stand for a max of like four minutes and can't hold my hands above my head for more than like 30 seconds to one minute. pretty much all my symptoms get a lot worse with any exertion.

GP thinks i have myasthenia gravis, but the test for acetylcholine receptor antibodies was negative and he doesn't have the ability to do other tests.

the neurologist has already said he thinks i have functional neurological disorder and that i should do CBT and pysio to improve my functioning (i already know CBT is horrible for me, i'm in other therapy which is good, i've done some psyio before but she just taught me some stretches and that was it, more psyio could be good but it'd have to be with someone who isn't trying to do a graded exercise therapy type thing since i get PEM). he has mentioned doing a spine MRI but this hasn't been done yet. he said he doesn't want to do further testing for myasthenia gravis but i will probably try to get him to agree to doing a repetitive nerve stimulation EMG or something.

i also have scapular winging on the side of my body with worse muscular symptoms which has also caused a lot of nerve pain, and i might also have some sort of spine issues (straightening of cervical lordosis was seen on a CT scan, they said it was probably due to muscle spasms, and i get a lot of neck pain which might be due to that? as well as a ton of back pain along my spine. might have CCI but haven't been tested yet). since it seems like i'm getting some structural changes in areas where i also get a lot of the pain and weakness and spasms i'm hoping if i bring that up the neurologist might maybe look more at organic causes + the state of those structural changes but i dunno.

he did a basic neurological exam in my initial appointment with him and said that i have give way weakness/waxing and waning weakness because when he got me to do the pushing my limbs against resistance i could do okay for a couple seconds but couldn't maintain it. he also said in the letter that i had positive hoovers sign however i am.. very confused by this because from my understanding hoovers sign is mainly looked at when someone has one limb that's at least somewhat "normal" and one that either can't be moved or is very weak, and then the person can't move the weak leg but when asked to push the stronger leg against resistance they push the weak leg down. both my legs are strong enough that i can stand and whilst one leg is a bit weaker they're relatively similar. i lifted and pushed against resistance with both legs so.... i am not sure how hoovers is applicable here? does anyone know why it was applied and if that was correct or if i should be challenging that? he's saying that the give way weakness and positive hoovers are indicators that the problem is "non-organic" and therefore should be treated with CBT and pysio.

i'm not sure what i think is actually going on. i think myasthenia gravis might make sense, but also so could other neuromuscular diseases like a mitochondrial disease or something. also very possible it's myalgic encephalomyelitis (aka chronic fatigue syndrome) but obviously that one is a diagnosis of exclusion so i want to rule other things out if possible. i want to know what's going on so i can have the best chance of being as well as is possible for me. i know CBT is not right for me and whilst some type of pysio could help a bit/prevent some decline (based on past experience i know it won't Cure Me but obviously it can help a bit to build some muscle or maintain range of motion and things like that which are important) if there's other things i can do on top of that i want to.

i've tried to do research to work out the best tests to ask for and i think EMG might be good but also know a normal EMG doesn't typically pick up myasthenia gravis so it needs to also have repetitive nerve stimulation i think?

i can't see a different neurologist at least not anytime soon, so i need to get this neurologist to do as much to help as possible. a social worker from where i get therapy is coming to the appointment to help me so that should be good but i need to work out what the best way to advocate for myself is and what tests are going to be the most useful to ask for.

if anyone has any advice for getting doctors to take you seriously or for any tests i should be advocating for or conditions i should be looking into or anything i would really appreciate it <3 (emoticon description: heart)