If I have raredisease/medical condition how can I get a diagnosis?

[~Amelia~]

I don't want to explain all the symptoms and such since you guys probably won't know what it is if my doctors don't.

It is musculoskeletal in nature and probably a rare genetic disorder.


I've seen 2 doctors and a neurologist who gave me minimum tests (an mri) and told me they can't figure out what is wrong.

I'm 19 and have to live with the feeling that I might not live much longer if I, or someone doesn't figure it out. Does anybody know what I should do or if there is a database of rare genetic disorders that I can spend the next few months reading through?

 

[Sue]

you would be kinda suprised at what alot of people who post on this board actually know when it comes to reading symptoms and tracking back certain ones to very specific places that the function would only originate from? and to be quite honest, in the grand scheme of things, only seeing a couple of what appear to possibly be very inexperienced types of neuros(usually the biggest reason they simply 'don't know'certain things that other more experienced and specific specialists simply would know?) is really NOT getting too in depth when trying to find a true Dx of what is wrong inside our bodies. you would not believe the idiot neurologists and neurosurgeons that i personally have seen over the past ten years that were soo freaking clueless on pretty basic things, and of course simply reading other peoples stories with "their" own 'trying to get a real Dx nightmares here too?

what any specialist simply does 'know' overall, pretty much comes down to what they have seen the most of in their own practices and the more years the better kind of thing? what did your MRI state and what was actually scanned? if you do NOT yet have your own copies of any and all testing done on you yet, you definitely NEED to start obtaining your own personal copies of EVERY single test that ever gets done on you, both previously and from here on out too. this stuff can be priceless, esp when certain, mostly specialists will actually keep certain real hard findings that were actually IN your rad reports from you? they do this sick thing ONLY because they 'feel" it is not a pertinent issue when it could mean one heck of alot more to why you are even feeling what you are as symptoms? again, it does come back to them and their OWN exprience which may be completely lacking in what YOU simply actually have? so they do not have a freaking clue about YOUR condition and will blow it and you off.

if you could actually list your symptoms here and any info re the MRI, someone may just be able to totally even relate to what YOU are dealing with and actually respond too? but the rare disease/condtion kind of national "warehouse" of conditions is called 'NORD"? i believe that stands for" national org of rare diseases? do not quote me on that, but it IS a govt entity so its okay to mention it here on these boards?

there is also a particular board here called 'rare conditons' too that may be worth checking into? but right now you really do NOT actually truely know whether what you have IS a rare thing or simply got some idiot for docs and the neuro who are pretty clueless overall when it comes to specific things going on within our muskuloskeletal and the connections to the spinal cord and brain too? a good neurosurgeon always would know more only becasue they actually go into things like our brains and spinal cords vs the only mere 'outside" that neurologists are limited to too?

simply knowing symptoms, what got scanned and ANY real findings that you were told, and getting that copy so YOU can also read thru it to even KNOW whether or not you were actually told everything would be the most helpful for us to try and help you here hon. you have just ONLY hit the tip of the iceberg here with the very minimal actual specialist who you have seen and an MRI that if it was not actually even a contrasted one, would not even always show the more possible hidden findings without it either? just give US a shot here hal before you move on, K? FB

 

[♥i have an answer♥]

Wow, thanks for that post.

It's really ridiculous the reactions I have got from doctors almost like they are denying my symptoms. They want to just tell me it's in my head an i'm mental when in reality I have a plethora of insane symptoms in my body that are even observable and obviously not in my head. I think my body has a structural deformity in the way my muscles and skeleton interact maybe from something neurological. It's freaking scary and not at this moment I can't feel my body and it feels like my spine is detached from my muscles. If I were to talk to somebody about it they would tell me it's a panic attack causing this feeling when it's obviously not because I am completely calm observing these feelings and scared out of my mind that I am feeling them and the professionals are not giving me the help I need in figuring out something that defines my entire life.. I will look into what you said I will read through every disease for months straight researching if that is what it would take to figure this thing out that has ruled my life for 4 years.

I'll post back in the morning when i'm less tired trying to describe the symtoms in detail, so that maybe someone can relate or tell me what to do.

The neurologist I saw basically tested my reflexes looked at my MRI and said huh sounds weird I don't know what it could be and then sent me away is if him saying that means there is nothing wrong. It's terrifying what i'm going through and worse that they want to tell me it's in my head when I know for a FACT it is not. I'll post back. Thank you.

 

[futureinfinance07]

Looking at my posts I see that you also replies in depth to a post by me last month feelsbad. If you look at you will see posts by my detailing some of my symptoms including the one you replies to last month. I thank you for your responses and for being so vigiliant. I will update this or make a post in the rare condition board going into further detail about what I'm experiencing.

Thank you very much.

 

[Squee]

okay hal, i just went back thru all of your posts and did also find where we did also cross paths here before? the one thing it appears from what i read is that the MRI you had would have to be like YEARS old now? when WAS that actually done, and was this ONLY on that lumbar area where it stated stenosis? just EXACTLY where is that stenosis located, within the spinal canal(much more possibly impactful ON that spinal cord) or was the stenosis actually found within a specific vertebral level nerve root foramen, where the nerve runs from that spinal cord outward? the "exact" and specific area of any stenosis would better dictate symptoms? tho you do mention that one leg actually appears to be 'electrified" or something like that? that WOULD be much more specific to the stenosis being within a nerve root foramen and actually impinging upon a specific nerve root?

the one HUGE thing here that i just would very much recommend to you is to obtain a brain and on down full spinal(from top to bottom) type of contrasted MRI? just to really see what other possible areas are being impacted? someone at your very young age when the stenosis was actually found is pretty unusual to say the least, so the real chances of this also possibly being present above the only area you have had scanned just IS much more likely too kind of thing?

trust me hal, you just have NO real clue as to what you may have going on in any area of your body til you simply get that one good looksee inside it. this is how alot of MY insane spinal cord crap was even found that i had no freaking clue i was actually even born with? it just was an 'incidental finding' upon my first ever MRI done that happened to be on my c spine wheere we knew based upon my radiculopathic types of symptoms that i DID have something like a herniated disc going on up there? what we did not expect was the other finding that just was IN that area IN my spinal cord.

the mere fact that in other posts you have made that you have mentioned how your actual 'perceptions" just are of your own body is something that I too deal with but from a very specific area/spinal tract within my cord that was damaged during a surgery done on it that is whats called the "spinocerebellar tract"? this lil sucker is what sends the 'working signals' back and forth from the actual cerebellum(located more at the base of the skull area)which DOES also govern pretty much how we even 'see' or 'percieve" our own body and extremities too? it does govern alot. i am just wondering if there is ANYTHING at all up there that just could be possibly impacting your tract in the cord level or that cerebellum within that very base of your brain? its just that the vertebral arteries also run TO and thru the cerebellum as well so if there were ANY disruption of that bloodflow by even something like possible impingment, it very much just 'could' create cerebellar issues? are ya with me here so far?

just a couple of things i DO NEED some answers to here? exactly WHAT did your lower leg reflex react like that made that neuro comment on it when he tapped right under your kneecap area with that lil hammer when you had the eval with him? did it slightly more subtley 'bounce out"? or did it appear to be much more "brisk' and more shoot out? your answer to THAT one question is just extremely important for me to know.

do you yourself actually have a copy of that old MRI report that you could at least post the summary at the end up here for me to read thru? that summary is pretty important with the more solid findings the interpretting radiologist who looked at your films just saw. you CAN obtain your own copy from either the referring doc who ordered it, or usually more quickly right thru the actual facility that did that MRI for you? just pop in there and ask for your copy and they will have you simply sign a form and shoot you off your own copy since it is all in their computers.

but you just really DO NEED that top to bottom and make certain it is a contrasted MRI which esp when looking into that brain, really does highlight things much better vs without it? they simply need to be rechecking that area of stenosis anyways by now too for progression, so asking for that full brain to sacrum MRI, well, considering allll your ongoing symptoms just really does NEED doing at this point since you STILL do not yet have anything close to a real solid Dx now and this has been going on since age 15??

all your primary doc needs to do is refer and then write that order. simply tell him that you are sooo tired of feeling like you have been and NEED to just know IF there indeed IS something more going on above that lumbar area at this point? and tell him you also want to have a solid Dx at this point in order to even know who or what to see or simply do next as well. this full brain and spinal just realistically should have been done a long time ago considering symptoms and the solid dx of stenosis in your lumbar in someone really way too young to 'normally' really even have this yet?

i would just DO whatever it takes right now to just get this full MRI with the contrast agent done on you. whatever does or does not show will pretty much dictate what any next steps should be from that alone? ya just don't really 'know" anything(no one really does) until you at least get that much deeper look into any suspected area that could be a generator of what symptoms you specifically even have. trust me on THAT one. good luck hal and do keep me posted. but this IS needed right now hon. FB

 

[Natasha&Jose]

Hey feelsbad.. I will post an in depth response to all your questions as soon as I am a better state of mine. The last few days I've had a lot of severe cognition problems and right now my body is so hot it feels like it's on fire so i'm really not able to conjure up too many details at the moment.

The main defining characteristic of what I'm dealing with that I can't explain is the cracking of my spine and vertabre constantly almost like my skeleton is trying to re-align and fix itself and when that happens my perception changes. There is my mid back where it feels like two vertabre are stuck and don't move in unision with the muscle or aren't properly attached to the muscle. There is the same thing with two vertabre in my neck and i have to constantly try to move and crack these portruding vertabre and try to get them to start working with the muscle and re-align themselves into a normal way again.

The one disease and condition I've always felt matched up perfectly with how i'm describing this is "spinal bifida" or tethered spinal cord syndrome.


I feel so well like that syndrome fits what I have even with loss of bladder control and the sensory things..

The way my back looks and feels is also VERY similar to

Scheuermann's disease.







What's even stranger is that i've noticed my sister has the same structural deformity in her back and she is almost at the age I started devloping problems (16) and I can tell she is going to have the same exact problem is me... Maybe I should mention I'm pretty sure they said I have Scoliosis.

Kind of going off but i'm feeling pretty intense things right to the point that feel like I am on a heavy dose of some mind altering drug even though I don't take them so i'll answer your questions about the MRI and everything as soon as I get in a better mental state if I end up okay. Thank you for your long post I very much appreciate your time.