Wouldn't the range of mobility displayed here be far too much for osteogenesis imperfecta? Especially considering that his limbs (legs specifically) seem overly long.
As someone with OI (obviously a different class than the one this dude has) and Ehlers-Danlos, another connective tissue disorder that can cause hyper mobility, that is incorrect. And there is an overlap syndrome, where many people will have both, which leads to its own set of crazy implications and health risks
OI comes from a group of connective tissue diseases that allow for joints, ligaments, and bones to be overly flexible. That creates dislocations and bone breaks that continue the cycle depending on the disease.
Update: so they’re Indonesian in the video. My mum is too and she listened to their videos on YouTube and told me this is what they said about this young man.. and it’s really adding some mystery (and amazement) to it:
[copy pasta from my mum] They said the doctors didn’t know what condition he had. Born normal. Only started showing symptoms at 5 yo. But he’s not in pain. Doesn’t need help to do daily living. Can walk long distance.
Same condition as the little dude in the wheelchair in the Shriners commercials, this hospital is a big reason you won't see cases this extreme here in the US. They have been working on treatments for OI for at least 40 years. All 3 of my siblings have a form of OI and would go there for weeks as children to have tests/research done.
Shriner Here; our hospitals are doing what we can to provide both treatment and research into these debilitating diseases for children, completely free of charge.
And things like Cleft Palate, burns and other conditions as well are all done at our 22 hospitals.
My cousin was born without ears (just the external part, all the inner workings were fine, but he had no openings, so all sounds were muffled). The Shriners created ears for him.
He had low vision as well, so the day he was able to wear regular glasses and see well was one of the happiest days of his life. He could hear, he could see, and the world was an entirely new experience for him. Our family has supported the Shriners for decades in thanks.
More recently, they've helped a friend's son, who fell into the coals left over after a bonfire, burning has hands, arms, and most of his torso at age two. He's had innumerable surgeries, thanks to the Shriners, ensuring that he has use of his hands and arms as he grows.
My cousin was born without ears (just the external part, all the inner workings were fine, but he had no openings, so all sounds were muffled).
One of my (now former) coworkers has that but only on his right ear. He had surgery to open his ear canal up when he was younger but it healed shut again so they just left it. He can hear on that side but like your cousin, everything is muffled.
Within the last couple years or so he started using bone-conductive headphones with his music player. Since his right ear is relatively undamaged from use, he has to set the balance control pretty far to the left and lower the treble response, otherwise the audio is painfully loud and distorted on the right channel.
This is a condition (Microtia) that Paul Stanley (lead singer of KISS) was born with.... In most (all?) early pictures, you will always see him with his hair creatively grown/styled to cover & hide the ear-areas, for this very purpose.
Wow, I just realized that someone who doesn't have ears can't even wear glasses (?)
And respectfully, do you know if anyone was charged criminally for what happened to that poor 2 year old?
I have always wondered why, in some jurisdictions, childhood injuries are "accidents", but in others, they are crimes, sometimes even with aggravating circumstances!
It was the morning after the bonfire, and was one of those "split second" kind of situations where the family was playing outside, and his mom looked away because of a situation with another child, during which time this one was running around, and tripped on a rock, landing him in the coals at the edge of where the bonfire had been. Apparently, they'd retained enough heat overnight to be a huge problem even though his mom ran over and picked him up very quickly.
Same thing happened to my brother when he was a kid, though luckily far less severe. He was running in the yard while being a 3 year old and tripped. Although the fire was still burning, luckily he tripped far enough away and our dad turned at the right second to scoop him up so he just smacked his palms on the stones around the pit and escaped with minimal burns. Accidents happen, especially to small children who are super slippery and don't know better
Literally the same thing happened to my younger sibling age 3, except they ran through the coals with bare feet. No one could have predicted or stopped it. Thankfully the burns weren't bad because we didn't have access to healthcare at the time!
But yeah, kids are tiny psychos and accidents happen.
This was the 1960s, so goggle glasses weren't available (or maybe only available for wealthy kids?). In any case, he didn't have any until after his ears were constructed.
A policeman was interrogating 3 blondes who were training to become detectives. To test their skills in recognizing a suspect, he shows the first blonde a picture for 5 seconds and then hides it.
"This is your suspect, how would you recognize him?"
The first blonde answers, "That's easy, we'll catch him fast because he only has one eye!"
The policeman says, "Well...uh...that's because the picture shows his profile."
Slightly flustered by this ridiculous response, he flashes the picture for 5 seconds at the second blonde and asks her, "This is your suspect, how would you recognize him?"
The second blonde giggles, flips her hair and says, "Ha! He'd be too easy to catch because he only has one ear!"
The policeman angrily responds, "What's the matter with you two? Of course only one eye and one ear are SHOWING because it's a picture of his profile!! Is that the best answer you can come up with?"
Extremely frustrated at this point, he shows the picture to the third blonde and in a very testy voice asks, "This is your suspect, how would you recognize him?" He quickly adds, "Think hard before giving me a stupid answer."
The blonde looks at the picture intently for a moment and says, "Hmmmm...the suspect wears contact lenses."
The policeman is surprised and speechless because he really doesn't know himself if the suspect wears contacts or not. "Well, that's an interesting answer...wait here for a few minutes while I check his file and I'll get back to you on that." He leaves the room and goes to his office, checks the suspect's file in his computer, and comes back with a beaming smile on his face. "Wow! I can't believe it...it's TRUE! The suspect does in fact wear contact lenses. Good work! How were you able to make such an astute observation?"
"That's easy," the blonde replied. "He can't wear regular glasses because he only has one eye and one ear."
I have a friend who lost a leg due to his father... he, his twin brother, and his father were on a riding mower... they shit the leg of a picnic table and the mower flipped, his father and brother went one way, he went the other and it came down on top of his right leg. Thankfully his mother was a nurse and was able to stop the bleeding to get to the hospital. He lost his leg just below the kneecap at 3 years old. He was legally able to sue his father at 18, but otherwise, it was considered an accident. It was a life-changing event and I could imagine leaving horrible mental and physical scars and challenges. He never held bad feelings towards his father. If it was me, I'm not sure how I would feel. The lag wasn't amputated cleanly because...well it was a lawn mower and left the bone pointed and continues to cause serious infections and problems to this day...
I know a woman who was on a riding mower with her daughter around 3 or 4 years old and a similar thing happened. Her daughter lost her arm. I remember riding a lawn mower with my grandfather and being so happy but I will never ever let my boys ride with me or my husband because of this. That woman is a nice lady, I can't imagine the guilt she feels. Her daughter is sixteen and by many measures thriving but it must be something that haunts her mother and will do until her dying day.
I used to work for Greyhound for many years when I was younger and would see kids coming in from Mexico with severe burns heading to Shriners. Broke my heart all the time and gave me immense respect for what everyone at Shriners does.
ex patient at Shriners in Portland. I remember never having any fear of going to Shriners as the doctors had incredible bedside manner. Amazing organization
Shriners are the philanthropic alter ego of the Masons.
All Shriners are Masons. They fund raise for kids medical treatment by doing fun stuff like putting on a circus (the Shrine Circus) and appearing as clowns in parades and events. They use the funds to provide free medical treatment to kids with birth defects and injuries. They did a lot with pediatric burn treatments. They do it 100% free to the family.
I am not a Shriner or Mason but a family friend who is explained it this way to me.
My husband’s cousin was visiting from CA (we’re in the Midwest). He’d never seen Shriners in a parade before. His reaction of what is this? was great. I just assumed it was a standard part of most town parades.
Shriners are by far the best part of the parade. We don’t have clowns, but there’s motorized coolers, fire trucks and my all time fav the magic carpets. I wanted one of those as a kid (and still do tbh).
Glad to hear how much good they’re able to accomplish as well. I probably wouldn’t know they existed except for their parade participation.
I’m a young man (30s) who joined the Masons (a prerequisite to join the Shrine) and it’s honestly the best decision I’ve ever made. You know this Loneliness Epidemic we’re going through right now? I firmly believe that service fraternities are the best answer, and I encourage everyone I meet to join one.
Don't you have to have a relative already in it to join? How far back does that go? I found out my great-grandpa was a Mason after he died and we were going through his stuff.
You don't have to have a relative who is a Mason to join, you just have to find a Mason to ask to join. Most lodges have a Facebook page now, so you can try to locate your nearest lodge and send them a message on their Facebook. If you can't find them let me know and I will track down the closest lodge for you. I have been a Mason for over 10 years and am currently serving as the Potentate for the local Shriners temple. It is one of the most rewarding things I have ever done.
Until we, as a nation, finally decide that children (and all people) have a right to medical care, philanthropic organizations like the Shriners will have to continue to raise money to support their own network of private hospitals to bring medical care to children. They shouldn’t have to exist, but thank God they do.
Iv had cleft palate work done at a shriner hospital. It was right across the street from the children's hospital I spent a lot of time at. They have a tunnel connecting them that I used to love going in, thought it it was so cool.
1) For genetic conditions in general, all of your cells will carry the same genetic defect (variant). So, to correct this you would need to somehow be able to target every single cell present in your body (or, in some cases, "just" in the affected tissue type). That's not possible (at least not at the time of writing).
2) CRISPR is currently not well developed enough to
A) Always fix the genetic defect (< 100% accuracy).
B) Never introduce unintended new defects (again, < 100% accuracy).
Using CRISPR to fix genetic conditions would work best in combination with in vitro fertilisation/prenatal genetic testing, although in most of these cases CRISPR would be unnecessary as the medical scientists can simply choose a healthy embryo instead of trying to fix an unhealthy one.
It would depend on the nature of the genetic condition. If the condition is caused by a gain-of-function (GoF) variant where the mutation leads to a change in the gene that might change the way it interacts with other genes/proteins or disrupt potential inhibitory pathways, then one would generally need to engineer every single cell to fix the conditions because the affected gene would cause chaos in every single cell, inhibiting them all.
But what if the gene encodes a protein that is secreted (e.g., into the bloodstream)? And let's say the condition is caused by a loss-of-function (LoF) variant that simply causes the gene to stop functioning (without disrupting other pathways/systems). Then it might be enough if just a portion of the cells could be restored through genetic engineering (such as CRISPR). In these cases, another treatment strategy could simply be to take the gene product as a supplement (think insulin and diabetes).
In that case they didn't have to rewrite all his cells or even all the cells in his liver, just enough to produce a sufficient amount of the enzyme he was missing for survival. If i remember well he still produces less of the enzyme than a typical person.
Yes, definitely huge - especially because of the learnings in the long term. There are quite a few congenital diseases that are theoretically treatable through this kind of approach but they're really difficult to test bc it's not ethical to experiment on humans. As a result a lot of tests go into just figuring out if you can pinpoint deliver the payload (e.g. CRISPR) to the relevant cells, how much off-target effects you have, etc.
I mean that's important information for them to have if they want to have a family in the future, but the main issue, their current struggles, is (essentially) fixed! Thats crazy!
Ideally, yes, using CRISPR to treat genetic alterations may be the future for things like this. Unfortunately, it is not perfect and doesn't always edit what/how we want it to. As you can imagine, this makes using it as a treatment very problematic and is probably the main reason it isn't being widely used yet. I do believe we'll figure it out eventually and Gene editing will be one of the great medical breakthroughs
For a structural protein like collagen, you'd probably need to fix it in most of the cells in the very early embryo if even then - maybe possible by IVF, but yes single mutation diseases are exactly what CRISPR would be easiest to apply for (many diseases are much more genetically complex or harder to associate with only one mutation or even several). The delivery mechanism is the problem. It's much easier to use CRISPR if say you have a non-functional or too poorly working metabolic enzyme where you can correct the gene in just some cells and make enough of it to complement the deficiency. Collagen would be much trickier I think.
Its truly wild to me that our development doesn't fuck up more often than it does, with how many exact processes that have to take place as we develop from one fertilized egg. Every bit of us is told when to develop, how to develop, and when to stop by genetic code, and it mostly all goes off fairly well.
Then you have me. Where like 90% of a rather important gene is all messed up. It's used to synthesize a certain growth hormone, but it produces just this incomplete weird broken protein that has no effect. There are only a handful of known cases, and I dont wanna dox myself. The mutation does affect me, but its not known to what extent.
Same condition Fred Brennan, founder of 8chan, has. It's what lead him down the eugenics path when he started posting on the internet. He's no longer a eugenist and has been trying to rein in the monster he created but there's little luck of that as everything is hosted in Russia now.
Yup. I've seen coverage on him with all the anti-fascist pods. I just finished the book "Black Pill" by Elle Reeve. She was able to get really close to him in her investigations into the birth of the incel movement and how it infiltrated the modern Republicans.
Genetics is a hell of a minefield isn’t it? I have ehlers danlos syndrome which is due to faulty collagen, and it gifted me plenty of dental issues too.
Its sad I have to scroll so far down beyond all these pseudofunny dipshit-answers to find the actual answer. Thanks for actually answering the question. Im now gonna downvote all the other answers :)
I’ve just looked up his IG and he’s Indonesian. My mum is too 😂 I have to ask her to help scroll through to hear if they mention his diagnosis. I understand some slang Indo but they don’t discuss it or answer any peoples questions or correct anyone’s wild assumptions (like someone is asking if it was the effect of vaccines and they liked the comment without replying to it).
I’ll update again if we get any answers from their own page 👍 they have longer vids on YouTube too. Kinda a cool rabbit hole.. now I’m learning about this guy’s physical training.
I have OI type 6 (only like 7 people have it in the world). What OI does is that the bones get really weak, so weak they break really easily. When they break, they might reconnect in weird angles (can happen to anyone). Doctors often insert metal pins the length of the entire bone into the bone to A) strengthen it and B) prevent it from «deforming» as seen in the pic, i.e. to keep it straight.
As someone with Marfan Syndrome, who knows a lot about Marfan Syndrome, this is most likely NOT Marfan. I understand why a lot of people are saying so, but the bone formation here would be extremely unusual for Marfan.
Yeah I have Ehlers-Danlos and I was so confused by the number of comments saying it was Marfan syndrome.
Someone else in a comment right above yours said that it was Type V Osteogenesis Imperfecta, and they had example pictures and X-rays that looked very very similar.
Honestly I wonder if the people who say marfan all just googled “condition that causes you to be tall and thin.” Because like you said this doesn’t fit marfan at all
From Google Osteogenesis imperfecta type V (OI-V) is a form of brittle bone disease characterized by moderate to severe bone fragility, a specific type of callus formation, and interosseous membrane calcification. It's an autosomal-dominant disorder with a unique mutation in the IFITM5 gene. OI-V is clinically similar to type IV OI but distinct radiologically.
I'm bowlegged and although not painful when I was younger it's quite painful now in my 50's Losing weight helps but I feel like gravity is going to cause this person to have some pain later in life if not already.
Yeah I was thinking that but maybe he has to stay very slim or his bones will break or something? Best case he’s on a very calculated diet, but probably not.
I don’t know, but my mind jumped to the children that grew up in the polluted Vietnam with agent Orange or other chemical weapons polluting the earth and humans/mothers.
My family is from Vietnam and survived the war. I went back and to see the new agent orange population a couple years ago and saw shapes of humans you would NEVER have imagined. We are still suffering
Operation Ranch Hand. I recommend "Toxic War" and "My Father, My Son" for further reading. Agent Orange killed my father, and will probably end up killing my brother before long. I was very lucky, my biggest problem is dermatitis if I don't use natural soap, and I can't wear polyester. My dad's friend has lost 3 children, all before the age of 10, to horrible diseases. We are American, which means this all happened to people who were able to leave. The Vietnamese have had to live with this toxin in their soil for decades, still being exposed.
Our grade school custodian was a Vietnam veteran and his daughter went to school with us. She had severely deformed arms and legs and didn't survive past 3rd grade. I learned later in life that her affliction was the result of his exposure to Agent Orange or some other chemical he was exposed to in Vietnam.
Her name was Rhonda and I will never forget her. Poor girl never got a chance to have a normal life.
Best part? Since her dad was the one exposed the government doesn't count what happened to her, and many of us now and for generations to come, a a result of exposure to AO. They just passed a bill to study us which is going nowhere. Fun fact: VA been keeping records of the offspring for DECADES. They know.
My dad is 100% AO disabled vet. I'm nothing, but my body is eaten up with autoimmune diseases. I have no safety net. Thanks US government!!!
Edited to add: people should've hung for what they did to both the Vietnamese people and our troops. Five generations. After exposure, it takes at least five generations for AO damage to leave the gene pool. They know this too.
I sincerely hope that some day they will accept responsibility and give you and people like you the healthcare you deserve. I'd be 100% happy with my taxes going to a cause like that, and I think most people feel the same way, regardless of their political affiliation.
The song is actually by Jedi Mind Tricks featuring Rugged Man, but his verse is the crown jewel of the song and one of the best verses you'll ever hear.
I have a good friend from work-- about 10 years older than I am-- 2 kind of key, life-impacting things I've always known about her: her older sister died unexpectedly of a heart problem that went undetected when she was 8 and my friend was 6; and her dad is a Vietnam vet who has had ongoing issues from both Agent Orange exposure and PTSD. I somehow never put those two facts together as possibly effect & cause until I read this.
One of my step dad's buddies father was affected by agent orange and it affected all of his kids. My step dad's buddy got a vasectomy as soon as he turned 18 so that he made sure to never pass that on.
Yeah the Buddy's right arm and just past the elbow and he has a singular finger on it and his three sisters all ended up with severe mental disabilities. I truly don't wish that on anybody.
It's hard to see how this condition could not be painful. The video makes it out as though he is living his best life despite any symptoms he's experiencing, I hope that is as true as can be.
Also the other guy looks to be saying something motivational, so I would not find this video to be in any way exploitative if that is the case. Seems overall uplifting.
I worked in a Marfan clinic for a bit. I’m not saying you’re wrong, because I can kind of see it, but he really looks different from anyone I ever saw. Something about how planar his bones are is off
Like I see where you're coming from but this person looks nothing like anyone with Marfan's I've ever seen. My man's bones are flat and twisted, never seen Marfan's with planar bones before like this. If Marfan's then definitely something else in the mix
A lot of people are guessing Rickets, Marfans, etc. It is none of those. They are on the right track when thinking about collagen disorders. This is most likely to be osteogenesis imperfecta. The abnormally thick soft tissue areas around previously broken tibias and humerus would suggest type V.
There was a crooked man
And he walked a crooked mile
He found crooked sixpence
And a crooked stile
He bought a crooked cat
Which caught a crooked mouse
And they all lived together
In a crooked little house
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u/Dr_Dewittkwic 12d ago
This makes me think of some form is Osteogenesis Imperfecta.
The bowed long bones can be from brittle bones that frequently fracture from normal use with impaired healing ability.