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“Rare diseases are... Rare” ~ Hank Green

Quality KZfaq content is a rare disease that SciShow needs to infect other channels with

Ehler's Danlos Syndrome... PLEASE. Please talk about it. It's a previously considered rare disease that's actually common and often misdiagnosed, underdiagnosed and poorly understood. Lots of people with fibro actually have it. Many doctors think it's a circus disease that just makes you bendy and stretchy skinned but it's so much more than that. It's often disabling and tends to include every comorbidity under the sun because of how collagen underlies every body system. Some types are usually pretty painful and can put you in and out of the hospital your whole life, while others with the genetic disposition for the clinical diagnosis live completely normal and painless lives, so it has an incredibly wide spectrum of possible damage. It's SO important that this is discussed by media with large followings, we need to help those lacking answers and raise money to do research into genetic markers, and treatment plans because we currently have no set treatment or even a solid guide or help from doctors. They often give us a dx and send us off without any clue how to help us. It's slowly gaining attention in the medical field and doctors are catching up to the new criteria, but we need to educate ourselves and know it exists so we can advocate.

So did the doctor who was working on HPP tell his patients, "Good news, everyone! I found a drug that helps people with osteoporosis. But it doesn't work on you people."

I had a rare disease - very rare. At the time, I was one of 5 diagnosed cases on the planet. My epidemiologist was convinced there was major underdiagnosis and set about using my case to develop new diagnostics. Today there are about 100,000 diagnosed cases. In my particular case, the weirdness of my situation allowed for developing new diagnostic tools, as well as giving insight into the infection mechanisms of the disease. So... yeah. Exactly what Hank said about rare diseases helping shed light on stuff.

This is the best science channel on KZfaq.

Please do a second part. This is a very interesting topic. Think of including MS pls

I have a rare autoimmune disease called mast cell activation syndrome, I’m hoping I can get my doctors on board with studying me during my pregnancy because there’s not much research or information on people with mast cell disorders who become pregnant

Can we get a video on rare birth defects/genetic deformaties?

Ash has a rare disease where he never ages

Scishow, thank you so much for covering this and giving these diseases awareness. I watched this video wondering if the rare disease my brother had would crop up, and got so giddy when it did (NPC) that I had to re-wind a bit because I wasn't listening from excitement :') My mum, dad and I are all carriers of NPC, and my mum has always said that there must be a reason that rare diseases are around, and has said that the carriers must gain some benefit/immunity, as with the famous example of people who are carriers of sickle-cell anemia are protected against malaria. It's interesting to discover what NPCs benefit is :) Thank you, SciShow

Update on Bisphosphonate treatment -- Unfortunately osteoclasts and osteoblasts have complimentary roles in bone maintenance. When bisposphonate inhibits the bone osteoclasts from their dissolving and restructuring role while the osteoblasts continue their bone formation function it is the equivalent of resurfacing a road without the preparatory step of grinding out the cracks and stabilizing the substructure of the road bed, where needed, before the new top coat. This in practice then actually causes more bone fractures and fragility. The bone density appears to be increased, but the occurrence of catastrophic fracturing is higher than in untreated osteoporosis patients.

These advancements are amazing, but I take the opportunity to remind people that although they are good options they are not easy for the patients. Bisphosphonates do wonderful things but have absolutely terrible side effects including severe gastric bleeding and not being able to eat or drink , nor lie down for hours either side of taking them. They can also cause horrific bone pain.

Have read all this in medschool, can recall these better now... thanx! Love from India :D

5:40 I always knew NPCs were a disease.

I have a rare disease. I wish research was done on it, and I would gladly let the results help non-sufferers as well. Hey scientists: check out Ehlers-Danlos Syndrome. It is a mutation of the MTHFR gene.

I'd like to see a video of dysautonomia and and ehlers-danlos syndrome!

Ah, good ol IGF. I remember doing a mock project that focused on that and how it can be a possible target for stopping abnormal cell growth. Watching this video has me wishing that I finished that project now.

Love this channel so much

SciShow is one of this one’s longest-subscribed channels on KZfaq - high quality in production values (audio is particularly appreciated), and high quality content. Far more likely to trust SciShow than some of the clickbait alternatives out there. Live long and upload often.

If you can come up with a cure for a rare disease that effects only one human that's a win in my book. It'll drastically change not only their life but the lives of those who low them. Not to mention, just because a disease is rare now doesn't mean it will always remain so.

Muscle hank would eat those diseases for breakfast

I love this channel! Please cover more misunderstood diseases like fibromyalgia.

Immediately signed up to skillshare, two months free is not to be sniffed at. Also I appreciate the explanation of the new sponsorship thing, changing the business model of scishow a bit to include sponsorship must have been a difficult decision. I'm not generally opposed to sponsorship because as far as I can tell it generally allows people who make good things to make great things (or in this case, continue making great things), which I think is the part we should focus on. Thanks Hank et. al. for keeping me informed and entertained

Cool. I'm glad you guys are able to work with education based sponsors!

God, i love this kind of genetic episodes! More please! :)

This is HIGH QUALITY CONTENT.

I LOVE it when you guys do these health videos! 😄😄😄

Our bodies= the most complicated & incredible bunch of processees! Love these vids especially that you do the pronunciations right.

It should be mentioned that the first thing on the list didn't have the intended positive benefit. The problem caused by osteoporosis is that your bones become weaker, more likely to break, as a result of the larger air pockets in them. Drugs like Osteobiflex fulfill the symptom of light bones by stopping the osteoclasts and making them denser, but that doesn't lead to healthier bones, nor make the bones less likely to suffer a fracture or break. Osteoclasts are important members of your team, along with the osteoblasts that build the bone. Simply preventing them from doing their job is like building a house and, instead of leveling out the ground through excavation to reveal the compacted earth that's good for building on, you just start building right on the top soil. And building and building, only adding, never subtracting, and it becomes like this awful game of stacking stones. Still cool that they found something out from the rare disease though, and hopefully they can put it to better use in the future. (Thumbs up for video)

Fascinating as always. Chronic Illnesses & diseases are a personal interest of mine, partially because they're intriguing, but primarily 'cause I have the neurological disease Fibromyalgia. It's not a rare condition, with it affecting approximately one in every twenty people (in western countries), or about 5-7% of the population. Despite this, it hasn't had a great deal of funding being put into research, with the majority of studies concerning it being pilot studies using very small groups of people. It's etiology has remained elusive, though in recent years it has been clarified to be a both a neurological & neuroendocrine disease (it was previously considered a rheumatoid condition due the heightened presence of several pro-inflammatory cytokines), through improved fMRI techniques. That it overlaps multiple medical disciplines has proved to be a hindrance to both scientific research & clinical treatment - though treatments like Lyrica/Ketamine for the Neuropathic Pain, Cymbalta for the "Fibro-fog", Naproxen for the inflammation & hormone treatments for the HPA Axis dysfunctions have certainly reduced the symptoms, and increased the quality-of-life for sufferers. Definitive research into the specific genes that cause Fibromyalgia have been sadly lacking (it's been known that it is a hereditary condition since at least the 1990s - especially in people with Mediterranean ancestry). With it occurring in such a significant percentage of the population, there is the implication (thanks to evolutionary genetics) that the mutation causing it has improved the survivability of people in the distant past. Why it would cause such a myriad of terrible symptoms in people living today is a puzzle - one that perhaps would also lead to advances in research that could benefit people with other illnesses, like those you mention in this video.

can you do more on rare diseases? i was given the label of multiple medical anomalies for almost 39 years of my life before someone gave me the correct diagnosis. i may have other diagnosis as well, trying to get it all figured out. i started searching the medical encyclopedias when i was 8 but i was missing key factors that docs never picked up on.

7:05 that is no longer a mouse, that is a Super JetPuff Marshmallow slowly melting

best feeling when you randomly find out about stuff you didn't even know existed, every morning on your pocket supercomputer, laptop, or smart display.

Great job guys my kids and I love your channel and we are all subscribed and at some point have donated. Keep it up

I love this channel. I learn something new everyday. I love learning about health, new medications, and new treatments

Thanks so much for this! I was just diagnosed at age 33 with Gaucher Disease!

I learn a lot from scishow, so great stuff always

Do an episode on fibromyalgia please!

Do a video on Fibromyalgia and common co-conditions/diseases that occur with Fibro? Took me 14 years to finally get my Fibromyalgia diagnosed and not just get brushed off as "a woman who exaggerates her pain." I also have MCS (Multiple Chemical Sensitivity) and Allodynia as co-conditions with my Fibro. Which *also* took many years to finally get diagnosed. Now I can finally start to find therapies, dietary changes, exercises, and meds to help me live a more functional lifestyle. The lack of support and research into Fibromyalgia and it's many co-conditions *needs* to be talked about. Especially considering how many people it affects, how disabling Fibromyalgia is, and how few medical doctors take Fibro patients seriously. It's a bloody epidemic to have the medical profession deliberately ignore people because reasons. Some of which are based in sexism.

So my step mom has Behçet's disease, and there is no known cause, origin, or cure. They suspect it is an autoimmune disorder because it causes similar symptoms, but they don't know for sure. It's crazy to think about the fact that there are people in the world that probably don't know anyone that has the same disorder or disease... It's crazier to know someone who has it, and know that I'm probably the only person I know, outside of my family, that knows someone who has Behçet's disease or has even heard of it. I absolutely love this channel, I've watched almost all of the videos. If you guys did a video about it within the list show, that would be amazing. I never see any videos of anyone talking about, or many articles about it. I feel like if more people heard about it, maybe it would inspire more people to research it.

As someone with Gaucher's, was surprised it made the list. That's pretty neat.

I kinda loved this video! It was interesting, dynamic, expressive & most importantly informative to the minute detail! I'm digging the gusto!

Hank is the best

I have Bruck Syndrome (a rare genetic bone disease that affects < 1000 people worldwide, although when I finally got correctly diagnosed in 2016, there were only 40 known cases). I receive annual bisphosphate infusions. It also treats osteogenesis inperfecta, a similar disorder that affects 1 in 20,000 people that was my initial diagnosis at birth.

7:06 I'm awe of the size of this lad. Absolute unit.

Y'all are wonderful people, thank you so much for all the awesome quality videos!

About twenty-five years ago I knew a woman who had a baby with hypophosphatasia. It's so rare, and apparently comes from a recessive gene, that the doctors asked her if she was related to the father. She wasn't, that she knew of - though most of us don't even know our great grandparents. The sad thing was, at the time the oldest age a person had reached while living with the disease was about ten. They had to operate on him to increase the size of his skull because it didn't grow with his brain. I don't know what happened to her kid, since we didn't stay in touch, but to me that's a huge nightmare...knowing your kid likely only has a few years to live, and that you really get to know them a bit by then. Babies are pretty much strangers to us, whether we admit it or not, but a ten-year-old kid is someone we've spent a lot of time with. I'm truly grateful the only thing that ever happened to my daughter was a stay in the hospital for the flu as an infant, and an allergy to penicillin. Otherwise, she's healthy and in her thirties now. I don't think I would find the same to be true for my former acquaintance.

I have the most common "Rare" genetic disease that hardly no one knows about (I've had people in the medical community give me false information about it), and that is Hemochromatosis, or commonly called Iron Overload Disease. I've 2 different mutated Genes which causes me to absorb Far more Iron than I need, which builds up in your body and becomes Toxic, particularly to various organs. The only way to get rid of Iron in your body is to Bleed (you lose a very small amount through skin and intestine cell flaking). Because women have a menstruation cycle it is overwhelmingly a Male disease, it usually shows up in Women after menopause.

In trying to diagnose my active medical issues we discovered I'm a carrier for Gaucher's (not uncommon in my ethnic group, but still a shock.) My brother had similar symptoms but tested negative. My grandmother also has dementia. I suppose there's no use worrying about something I can't prevent or can't control, and it's good that I know I carry one of the Gaucher's genes so that I can protect my future family. But still...

Please do a show on beneficial viruses, phages.

Can you do a vedio on congenital spyndolatheses an other congenital bone defects an maybe even its relationsh to early onset degenerative disk disease ?

6:45 is me when i try to present anything to anyone

I have a very rare disorder (PPHP) and it only affects 1 in 7 million people. There's only one doctor in the US who researches it, and she only has 14 other patients with it. I'm not sure if anyone else in the country even has it.

Love you SciShow!!

you guys are awesome, thanks for the high quality content :)

Scishow is the best

I'm so happy that this channel exists

I have PAI-1 it sucks having this bleeding disorder i have had it since i was 5 years old it took 3 years to be diagnosed with PAI-1 i have to be very careful of the things i do everyday if i get a bruise i have to take this medicine to help me to clot a small cut can bleed for up to 15 minutes.

I like diseases the same way I like my steak... rare.

It’s nice to have you all around. Thanks for sharing from skill-share

Can you do an episode on "invisible diseases" like chronic fatigue syndrome.

Please support public funding of scientific research! When our budgets get slashed, it is these kinds of breakthroughs that slip through the cracks.

Here before muscle Hank!!!

I absolutely love these in-depth videos.

Can you talk about the idea of not locking out your knees in order to prevent fainting? ...people say this all the time when you’re standing for an extended period of time and this cannot be true. If it is, why?

*THATS ..... ANOTHER GREAT VIDEO .... THANKS FOR THAT ...!*

Speaking of rare diseases, could you do a video on Von Hippel-Lindau, or VHL? I kind of understand what it is basically, but I'd love to know more about it.

SciShow should do a video about Seasonal Allergy Disorder, also, maybe one about the new Carnivore Diet Fad.

Most people still dunno when to stop eating, I'm not fat but I don't neccasarilly feel full that easily and can eat unhealthy if want to and the body doesn't say stop it allows it to continue forever so I have to rely on my mind and conciounce

Scishow is the best because it doesn't dumb stuff down

Support your friendly neighborhood Zebras by researching Ehler-danlos syndrome! It's a rare condition that needs a lot more awareness, and in-depth studies done on how to better treat it.

I’d love to see a video on rare diseases with neat backstories. Not necessarily ones that are helping find cures for other diseases, but more ones with other interesting stories to them. For example, I live with CRPS type II, a rare degenerative neurological disorder. Except it doesn’t attack the Central Nervous System directly. Nope, it likes to destroy the Sympathetic Nervous System, which is how the most common form of the disease (now known as CRPS type I) got its original name of Reflex Sympathetic Dystrophy. CRPS type II, on the other hand, was actually the first form identified and it was originally known as Causalgia. And it’s the history of Causalgia where things get interesting. It was discovered during the American Civil War. Yet, despite its initial discovery and the craziness that followed (they tried to amputate effected limbs which failed miserably), there are still no approved treatments for it in the vast majority of countries. It’s cause is also very interesting. It’s triggered by some form of trauma to the body (the severity of the trauma involved draws the line between the two types). Type I, which accounts for 90% of patients, can be caused by something as minor as a stubbed toe and it’s onset can be delayed by up to several weeks. Yet when the disease finally starts, it starts instantly, straight into the deep end with excruciating, nearly intractable pain. A rather common story amongst patients is, “yeah, I broke a small bone and everything was fine. Then a few weeks later, I woke in the middle of the night, screaming in agony because the sheet was touching me.” Despite this overly dramatic onset, it still takes an average of 6 years to get diagnosed. Both forms of CRPS combined are rather rare, with 1 in 5,000 people thought to have them. (For reference, in the US, rare is fewer than 1 in 2,000 people.) But CRPSs claim to fame isn’t its scarcity. Rather, it’s the symptoms. It’s the most painful chronic illness known to science. On a 50pt scale, a broken bone is about a 20, severe spinal problems are a 30-40, cutting off half your foot with a lawnmower is a 41, and CRPS is a 43. It usually effects only 1 or 2 limbs, but it can spread to effect all extremities and some patients even have it in their abdomen, plus it can damage internal organs (usually the heart). Other common and interesting symptoms include changes in skin color to white, red, blue, or purple (I even turn polka dotted, which is super entertaining) often accompanied by changes in skin temperature, muscle spasms, muscle atrophy, involuntary movements, osteoporosis, edema, hyperalgesia, and severe allodynia. That’s on top of the pain of feeling like you’ve been dipped in gasoline and lit on fire, your bones being crushed with a pickaxe, and/or the feeling of being wrapped in barbed wire.

Please do a SciShow on beating Mrsa, that was given by a hospital. That resides in a prosthetic. I trust u guys , please help me

Absolutely loved this show! Huge huge fan of DFTBA and this one specially needs to be said out loud in scientific community so that we are not asked to do the kind of research which will have direct relevance

You don't get to invent the light bulb from looking at a candle. By being too focused on a specific problem, it's easy to end up running in circles. Other horizons must be explored to find new ways to solve a problem.

I have a rare autoimmune disorder. I have Acute Flaccid Myelitis. I was the first person to get sick here in Texas in 2009. I got sick on July 8th 2009.

Awesome bedtime story👀😛 how cells communicate and interact is just wonderous to even imagine.. *stares off in wonder*🤔

Glucocerebrosidase is pronounced like gluco - cerebro - sidase where the "i" in "sidase" is long.

Always interesting, thank you.

7:10 LOL good God. Look at that 🐁 I also love how the other 🐁 looks like he is trying not to stare.

Please answer these 2 questions......why can eating cheese or chocolate on an empty stomach only sometimes give you a headache/migraine? And why does eating cheese make you sleepy?

7:12 That mouse be kinda chonky tho

According to the book the compas of pleasure, actually lepton production is not the problem most of the time, but lepton insensibility, patients don't have enough receptors for lepton so they keep eating.

I had to type this I have Laron Syndrome No wonder All of my Friends are a foot(Or aleast more than half a foot) taller than me I really didn't knew It was a type of Dwarfism!

Thank you sci show. I am trying to get more people to watch. Including my daughter and her friends. Love your work.

In America this is called Prada Willie and has treatment. There is only two places here but there are many people that understand the treatment they are call psych techs.

I have my own weird, rare condition - HNPP. basically there is a certain protein that i cannot produce that means the myelin sheith around my nerves is easily damaged, resulting in damaged nerves which means the signals from my brain cannot get trhough, meaning muscles in the affected area simply don't work. there are different degrees of affectedness, and luckily for me i don't have it too bad. but i have read of people who, even if they are just lying down, this causes too much pressure on their nerves and it damages them, rendering many parts of their body effectively paralysed. i'm hoping that a more common disease can contribute to the treatment of my own, because with so few people affected (or who even know they are affected) worldwide, there is no economic interest in researching and treating my condition, so i hope to get some run=off benefits from more 'popular' diseases :/

6:44 your telling me no one heard this?

I have congenital lepton deficiency. I'm feeling positive, but I'm missing my electrons.

Do a video about chicken pox and shingles.

This was an amazing episode!! I learnt a lot!

Just passing by, looking for NPC jokes...

6:45 great voice break Hank...

I got skillshare. Thanks. I'm trying a class on adobe premier pro for 2018. Hopefull making my videos much better. also gonna try a bunch of arts and design classes.

One thing to add: People with the sickle cell trait protects them from malaria.

Best channel on KZfaq in my opinion

What about cystic fibrosis?

I have LRP5 gene mutation that makes my bones virtually indestructible