What are some of the rarest medical conditions?

What are some of the rarest medical conditions?

Obviously, to keep the topic "sexy", conditions that really fuck people up are of interest. But above all we are interested in extremely rare-yet-identifiable conditions, which might not even negatively impact a patient's life to a significant degree.

The type of thing for which there are fewer than 1,000 patients in the world at any given time.

In these hyper-rare cases, how can science and/or medicine be legitimately performed? You're dealing with a small sample size, which makes things harder.

Other urls found in this thread:

en.wikipedia.org/wiki/Fields'_disease
en.wikipedia.org/wiki/Situs_inversus
en.wikipedia.org/wiki/Dextrocardia
twitter.com/NSFWRedditImage

I don't remember the name of it, but there was some condition that caused your whole body to become bone over time.

bonitis?

Fibrodysplasia Ossificans Progressiva

In terms of rare conditions this has to be up there. Progeria, Epidermodysplasia Verruciformis, Cotards Delusion, Alstrom syndrome and Harlequin ichthyosis are to name just a few.

Joseph Merrick (OP pic) is a bit of a weird case since there is no consensus on what he suffered from, most likely Proteus syndrome and perhaps a form of neurofibromatosis: two very rare diseases in themselves, making him possibly the least lucky person in medical history.

Myostatin-Related Muscle Hypertrophy results in kids with super-huge muscles.

Fatal familial insomnia has been diagnosed in something like 100 people in history, and the gene is only even in between 20-40 families.

Basically one day in your 40s you wake up and are physically incapable of sleeping again until you die from exhaustion.

Scary shit.

>tfw insomniatic and have problems sleeping daily

I am now scared.

>What are some of the rarest medical conditions?

I bet Google has the answer!

>...

>In these hyper-rare cases, how can science and/or medicine be legitimately performed? You're dealing with a small sample size, which makes things harder.

Too broad of a question without first knowing what ailments in particular the 'patient' may be suffering from. Usually you'd observe, take into account molecular arrangements, then apply things which might reverse the mutations and the mutations' effects. I'm a personal advocate of the possibility that there might be electromagnetic wavelengths capable of destroying certain defects.

If you were at an actually significant risk you'd have known about it long ago.

If neither of your parents has it then you're safe. But you should seek help for your insomnia anyway.

>What are some of the rarest medical conditions?
You should watch House MD.
That's the main pull of the show, diagnosing rare medical conditions.

CIPA - congenital insensitivity to pain with anhidrosis
Split-Brain Syndrome

Reminder that it's never lupus.

>yfw chemical sedation actually speeds up the degeneration of the brain and makes you die faster

delete this

Diphalia

Why do humans have the most number or most painful diseases?

Is it because our bodies are weaker than a wild animal's?

Is it because our nervous system is incredibly complex making it more prone to these diseases?

probably just several biases

if an animal is sick in the wild it's very unlikely that we'll notice; we don't give physicals to every wild animal

animals in the wild are also very likely to quickly die if they're handicapped, so there's not a big window of time to see them in the first place
not so with 21st century humans

I have an odd condition that I gotten 2 years ago and have no idea what it is anyone want to hear it ?

Progressive incurable rectal ulcer, isn't it?

Intersex is pretty interesting desu

You can literally have two gonads that are half testicle half ovary each

Most interesting rare conditions for me are Progeria and Split-Brain, as a few people highlighted.

This is something I wasn't aware of, and it's definitely scary af but very interesting too.

>I bet Google has the answer!
Maybe he wants to have a conversation about it?

There's a disease that either one person or two sisters have. I think it's sisters, perhaps in Wales, but I can't can't find anything.

Found it:
en.wikipedia.org/wiki/Fields'_disease

holy fug that is the worst luck i think i've ever seen

>objectively living in the future
>hundreds of years of recorded history
>about 150 years of recorded medical history
>out of almost 8 billion people, only you and your sister get a completely new disease that will probably kill both of you
>doctors have no fucking clue what to do

i'm scared

There's a genetic condition in which all of your internal organs are mirrored. Like, your heart is on your right side, your liver on the left, and so on.

are those people more likely to be left handed?

source

Because we spend more time discovering them.

en.wikipedia.org/wiki/Situs_inversus
en.wikipedia.org/wiki/Dextrocardia

Trying to think if the trachial deviation makes it so an EMT might treat pericardial tamponade/collapsed lung wrong

Situs Inversus isn't that rare, I even personally got to treat such a person.

Can confirm. I went to highschool with a girl who found out she was mirrored during a routine chest x-ray.

I was gonna post this one you fuck.

Glycogen storage disease type 15 , only one patient to date. Not interesting but rare.

Double penis.

Triple penis.

was it ever sarcoidosis?

Kuru present in Papa New Guinea is pretty interesting. You start to laugh incontrollably as you lose muscle control and then die. Don't eat your dead.

Another rare disease is cyclopia. It's a mutation in the sonic hedgehog gene that yields only one center eye in the fetus. This mutation leads to abortion of the fetus.