Current Events > Anyone got a rare disease here?

(+) Yeah! (+)

I was born with a pretty rare neuromuscular condition. It's not well documented, but estimates are at 2-12 people per 1,000,000. My specific variant doesn't really have treatment, but I'm lucky to at least have a diagnosis so I've been able to get accommodations like a wheelchair and stuff without too much trouble. It's bizarre because there's no history of it in my family, but my brother also has it, and a sister who died as an infant also likely had it.

What about you guys?

MS

Could be worse I guess.

TeaMilk posted...

I'm lucky to at least have a diagnosis so I've been able to get accommodations like a wheelchair and stuff

Absolute fucking horseshit.

There shouldn't need to be documentation beyond "yo this dude needs a chair."

Psychological disorders count?

About 1.3% of Americans have been diagnosed with agoraphobia.

Heartomaton posted...

About 1.3% of Americans have been diagnosed with agoraphobia.

https://gamefaqs.gamespot.com/a/user_image/0/8/8/AABUaRAADN1Q.jpg
BOO

Kerataconus.

Eye disease but workable with enough money.

DrizztLink posted...

https://gamefaqs.gamespot.com/a/user_image/0/8/8/AABUaRAADN1Q.jpg
BOO

What?

Oh. Populated area. I get it.

Heartomaton posted...

What?

Oh. Populated area. I get it.

That's the Agora.

You have ruined me.

Tyranthraxus posted...

MS

Could be worse I guess.

i've known a few people with that, it sounds frustrating that it can be so unpredictable

DrizztLink posted...

Absolute fucking horseshit.

There shouldn't need to be documentation beyond "yo this dude needs a chair."

you're right, and you know what I kind of misspoke about the wheelchair lol. I was able to get my current powerchair through a charity program at a local children's hospital. I'm an adult now, and insurance actually won't cover it because I don't need it to get around inside my house. Whenever my current one dies I'll have to shell out a few thousand for one

insurance fucking sucks. probably tons of disabled folks are housebound because they can't afford mobility aids

TeaMilk posted...

you're right, and you know what I kind of misspoke about the wheelchair lol. I was able to get my current powerchair through a charity program at a local children's hospital. I'm an adult now, and insurance actually won't cover it because I don't need it to get around inside my house. Whenever my current one dies I'll have to shell out a few thousand for one

insurance fucking sucks. probably tons of disabled folks are housebound because they can't afford mobility aids

Nope, I don't give a shit if it's a regular-ass wheelchair or a goddamn Gundam.

Need it, get it, insurance can go fuck a hole in a tree.

DrizztLink posted...

That's the Agora.

You have ruined me.

Mf y wood u think I'd no wat a agora is

i have something pretty serious called Duya

Heartomaton posted...

Psychological disorders count?

About 1.3% of Americans have been diagnosed with agoraphobia.

wouldn't it be hard to get diagnosed if you can't go out to see a doctor? im pretty sure my ex-gf had that. that sucks man

DrizztLink posted...

Nope, I don't give a shit if it's a regular-ass wheelchair or a goddamn Gundam.

Need it, get it, insurance can go fuck a hole in a tree.

wtf i want a gundam. i can't do stairs

viewmaster_pi posted...

i have something pretty serious called Duya

duya... these nuts??

viewmaster_pi posted...

i have something pretty serious called Duya

i have a variant called duyamama

TeaMilk posted...

wouldn't it be hard to get diagnosed if you can't go out to see a doctor?

Not being able to leave the home is not a standard symptom. That is what happens in the most severe cases.

DUYA... have the time
https://youtu.be/SLSvT_2ocDQ

TeaMilk posted...

i've known a few people with that, it sounds frustrating that it can be so unpredictable

Medicine has come a long way in the last 5 years or so. There's ongoing human trials for theraputics which could result in a sort of cure kind of like HIV how you can just take some medicine and it's like you don't have the disease anymore.

Unfortunately the theraputics can't undo the damage that's been done, but I'm pretty optimistic for the future.

Neh. My diseases are pretty basic bitch.

viewmaster_pi posted...

DUYA... have the time
https://youtu.be/SLSvT_2ocDQ

for this bullshit? no

Heartomaton posted...

Not being able to leave the home is not a standard symptom. That is what happens in the most severe cases.

ohh i see. Do i remember right that you get SSDI? Is that purely for the agoraphobia or is there other stuff too?

Lost_All_Senses posted...

Neh. My diseases are pretty basic bitch.

lol look at this loser. doesnt even have any cool diseases

TeaMilk posted...

ohh i see. Do i remember right that you get SSDI? Is that purely for the agoraphobia or is there other stuff too?

General disabilities, I think.

TeaMilk posted...

lol look at this loser. doesnt even have any cool diseases

:(. But I have 2. So, at least diseases didn't just hit and quit me. They seen something special in me.

Lost_All_Senses posted...

:(. But I have 2. So, at least diseases didn't just hit and quit me. They seen something special in me.

Yeah, a sucker that'll settle for PLEB DISEASES

Tyranthraxus posted...

Medicine has come a long way in the last 5 years or so. There's ongoing human trials for theraputics which could result in a sort of cure kind of like HIV how you can just take some medicine and it's like you don't have the disease anymore.

it'll be like family guy. where quagmire gets the HIV. he could take a pill and it's all gone.

I have neurofibromatosis

TeaMilk posted...

for this bullshit? no

https://gamefaqs.gamespot.com/a/user_image/0/9/6/AAOjRaAADN1Y.jpg

I'm left-handed.

kingdrake2 posted...

it'll be like family guy. where quagmire gets the HIV. he could take a pill and it's all gone.

HIV doesn't go away but you can basically ignore it with proper medication.

Currently have been sick for the past year. Been to almost 10 different GI doctors. None of them can give me an answer besides maybe IBS but they are guessing. When Ive had every test and med with none of it working.

Basically Im in pain 24/7 due to when I eat its very painful going in and worse when it comes out. Ive figured out an ad hoc method of how to live but its crazy. Ive lost over 100 pounds as well. Not the healthy way either.

Im continuing on though. Some days it gets really bleek not going to lie.

ToadallyAwesome posted...

Currently have been sick for the past year. Been to almost 10 different GI doctors. None of them can give me an answer besides maybe IBS but they are guessing. When Ive had every test and med with none of it working.

Basically Im in pain 24/7 due to when I eat its very painful going in and worse when it comes out. Ive figured out an ad hoc method of how to live but its crazy. Ive lost over 100 pounds as well. Not the healthy way either.

Im continuing on though. Some days it gets really bleek not going to lie.

Have you tried checking for allergies / autoimmune disorders?

I have an arteriovenous malformation in my left leg. I had it for five years and thought it was a varicose vein until I finally had it looked at last year. Apparently it's super rare with only a few cases per million people. It doesn't cause me much trouble aside from some pain for a few seconds when I stand from a sitting position.

Allergies and autoimmune disorders would be considered in the very first visit with a gastroenterologist for those kinds of symptome. No way have they not been considered.

There's a lot of unknown/indistinct stuff that can cause unexplained GI symptoms or abdo pain like that though. Some rare intestinal motility disorders, and it's also pretty common to get them as part of a pain syndrome or functional neurological disorder.

does having a bunch of moles count as a rare disease

shinymon posted...

I'm left-handed.

That's not a disease, it's a super power.

Sonic Cannon posted...

Allergies and autoimmune disorders would be considered in the very first visit with a gastroenterologist for those kinds of symptome. No way have they not been considered.

There's a lot of unknown/indistinct stuff that can cause unexplained GI symptoms or abdo pain like that though. Some rare intestinal motility disorders, and it's also pretty common to get them as part of a pain syndrome or functional neurological disorder.

As much as I seriously dont want to ask this question but I really need the answer.

What do you mean by pain syndrome and/or functional neurological disorders? Neither of those have been brought up before. I would love to look into them as the IBS diagnosis has not helped and has been tunnel vision for doctors to not look outside of it.

As far as I know its not an allergy or autoimmune but I couldnt say for sure. Ive had a ton of tests, some of which have now been a long time ago, so its not as easy to pin down in my memory. And Ive had all the tests for chrons and celiac. A upper and lower endoscopy. Checked gallbladder. Nothing ever sticks out as wrong or out of place.

Ive had the whole gauntlet of anti-depressants and other meds too. All of them either cause more issues and none of them actually help the pain. Ive met more than a few doctors that think its just in my head or linked to stress. Both of which I have been tested rather harshly through my personal life in general to very high levels. Yet my issue stays consistent.

I have cut out alcohol, grains/wheat, fats, grease, and most sugar (Have to have some but I found glucose pills help too).

Im a man on an island here. I am a year a month into this while being at square zero. Im sorry if my terms sound weird or out of place but I dont have much to go on. Its all been learn as I go.

Thanks for anyone that reads this. Sometimes its helpful just to get it out there. Its weird having to come to grips that what I have may be actually something rare. Not as fun as it is in a game unfortunately and alot more frustrating. Trying to stay positive though.

Edit: Im a 32 year old guy. Since that does kinda matter.

Sorry that I don't have any further advice for you. I'd say just don't give up and you'll get to the bottom of it eventually.

Wife has Transverse Myelitis.
I've basically gotten to go to bed every night for the last 9 years not knowing if my wife will wake up the next morning.

If you want a good cry feel free to look it up. I shall give the short description of it.

Virus, attaches itself to spine, works way up to brain. Cuts signals to the brain, paralyzing the ability to move body parts (basically dead weight). Once it reaches (decides to go for) the lungs you will die.

LeadPipeCinche posted...

Virus, attaches itself to spine, works way up to brain. Cuts signals to the brain, paralyzing the ability to move body parts (basically dead weight). Once it reaches (decides to go for) the lungs you will die.

This is essentially ALS which is pretty fucking horrifying.

ToadallyAwesome posted...

Ive met more than a few doctors that think its just in my head or linked to stress

"Just in your head" is a pretty non-charitable description imo. It's very possible to get somatic symptoms from a psychological origin, and that doesn't make it any less "real." This is the same kind of group of problems I was hinting towards. It is usually a long process to figure out what else might be involved, and often there is no formal diagnosis that fits at all. But sometimes fixing another problem can help with this one.

Medically unexplained symptoms like yours can sometimes be pinned down to a specific organic cause if the right person thinks of the right set of investigations to do, but sometimes they can't. If not, some people find success approaching in a different way: treating it as a "bodily distress syndrome" and getting linked in with a psychologist and/or psychiatrist. Denmark in particular has a good body of research on this.

Sonic Cannon posted...

"Just in your head" is a pretty non-charitable description imo. It's very possible to get somatic symptoms from a psychological origin, and that doesn't make it any less "real." This is the same kind of group of problems I was hinting towards. It is usually a long process to figure out what else might be involved, and often there is no formal diagnosis that fits at all. But sometimes fixing another problem can help with this one.

Medically unexplained symptoms like yours can sometimes be pinned down to a specific organic cause if the right person thinks of the right set of investigations to do, but sometimes they can't. If not, some people find success approaching in a different way: treating it as a "bodily distress syndrome" and getting linked in with a psychologist and/or psychiatrist. Denmark in particular has a good body of research on this.

Thank you for taking the time to help with this. I have been shuffled around so much that its hard to get any continuity with a doctor/PA. So a long treatment plan hasnt really been something anyone has talked about let alone beyond basic tests (The bigger ones have been done like I mentioned)

I even had one doctor casually with zero tact mention that I could be this way for the rest of my life. That freaked me out hard that day. I dont want this to be permanent.

I will use all this though. Knowing the terms to get professionals understand can hopefully help tip the scales!

I have ITP which is moderately rare I suppose. White blood cells kill off platelets.