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Rose Marie Bentley lived for 99 years with organs in all the wrong places (cnn.com)
275 points by nradov 14 days ago | hide | past | web | favorite | 86 comments



This is fascinating! I was diagnosed with dextrocardia w/ situs inversus at 19.

I didn't make it to 99 years old to find out I had it, but several physicians and doctors in my childhood missed the diagnosis too. Story time!

This is written on mobile so I apologise for grammar and spelling errors.

I had awful asthma as a child and would frequently visit hospital till my teenage years because of asthma attacks and similar. I couldn't estimate how many X-rays and Ultrasounds I had growing up. No one picked up the Dextro Cardia till I got my medical exam for Permanent Residency in Australia. You can imagine how surprised I was when I found out all my major internal organs are a mirror of where they should be. The consensus so far is that because my organs are all mirrored, most doctors look straight past the condition and consider it to be an X-ray Technician error.

Similar to Rose I experience chronic heart burn and I'm at heightened risk of heart disease, but little more than that. Unlike the majority mentioned in the article, but like Rose, I'm quite healthy and I'm now at the age of 30 with no signs of stopping.

One funny story within a story. I have to wear a medical alert to describe my condition in case of an accident.

When I was in my mid twenties I was in a car accident and my (car hits bicycle, I was on the bicycle) and didn't wear my medical alert. The one time in my life I definitely needed it. In vehicular accidents it's common for your organs to be moved around your chest cavity and abdomen as a consequence of the trauma and inertia of your body travelling and the inevitable sudden stop at the end. I got taken straight to triage in ER at the hospital and was whisked away to get stabilised, x-rays taken and my visible wounds cleaned.

I wasn't quite with it at the time but vividly recall the doctors looking distressed at my X-rays, the doctors came over to mention there's some 'anomalies' in my chest and require an ultrasound.

I have a brief moment of lucidity and mention to the doctor, 'Oh, I usually have a medical alert for this. I have Dextro Cardia w/ Situs Inversus. Thought you should know.'

The doctors lost their minds with laughter and took particular attention to finding the apex of my heart beat (it's not where it should be), prodding and poking my body to find out how it ticks.

To think if I wasn't with it at that time, I may have ended up with corrective surgery which is quite common when DC w/ SI is found to minimise risks associated with the condition.

I was quite fortunate, I had no broken bones, but I did have a concussion and so much road rash and other open wounds as a consequence of the accident.

Still to this day I now wear my medical alert daily, and when ever meeting a doctor they show visible delight in getting to play around with me and my rare genetic disorder. It's all quite fascinating. Including my girlfriend who's a doctor, as are most of her friends. :)

Thanks for reading!


I also have Situs Inversus Totalis. Thankfully I haven't had any major health incidents to date, and my experiences with doctors and nurses has been similar. EKGs in particular can be quite interesting. :)

I'm also diagnosed with Primary Ciliary Dyskinesia, and your mention of asthma issues as a child had me wondering if it's something you're aware of? About 50% of people with PCD also have Situs Inversus Totalis. The primary symptoms are a chronic cough and congestion.

https://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia


Holy shit! Yeah perhaps, I'm due for a medical examination, I'll bring this up.

Do you often get chest infections too? Apparently that's very common as it is with me and those who have DC or Situs Inversus.


Yes, it's common, and I have regular mucus build up because, well, my cilia don't clear it well for me. :)

As rscho mentioned, you should definitely bring it up and see if you can get a referral to a specialist. I see a pulmonologist regularly to keep an eye on it. The term Kartagener syndrome (SI + PCD) may ring a bell to them more than PCD will.

I was misdiagnosed as a kid as having asthma (or something like that, I don't remember this well), and doctors prescribed an inhaler but it had no effect. My parents had me seen by a pulmonologist which then led to a diagnosis.


The parent is correct. This is a common association in situs inversus, and you should seek specialized care. Your GP will probably not know about that (it's extremely rare), so if you have to insist, do so.


Absolutely related! The ciliary malfunction causes the situs inversus in embryonic development by swishing your chemical development signals the wrong direction

> doctors look straight past the condition and consider it to be an X-ray Technician error.

This can go the other way too. As a student I “corrected” an initial film as it came out the film processor. The patient hadn’t been imaged before and they had dextrocardia. Basically I turned the film over and sent it for reporting with the left and right reversed. The reporting radiologist noticed as the name tab, which used to be printed onto films, was on the opposite side to normal.

What happens now days with digital processing? Who knows, but a backstop has been removed.


Did the X-ray have the metal L/R "tags" in the image? Did you assume the radiographer had placed these incorrectly? My understanding is they are how you understand orientation.


If you saw everything backwards your first assumption would be X-ray error without question. But assumptions...

I can’t remember, but in a chest x-ray room it is usually taped to the Bucky reversed, in which case I had assumed the letter was around the wrong way.

in a world of ultra high bandwidth, backstops are as needed as removed.. odd


I remember my grandmother said a guy she was married to in the early sixties found out when they went to take out his gall bladder. When the surgeon opened him up, things not as expected.


You might enjoy reading "A Door in the Sand" by Roger Zelazny. (A minor spoiler) there is a scene in which the main character causes similar confusion in doctors, but in his case the reversal was caused by a mishap with a piece of alien high technology.

This is awesome! For some reason I got really nervous reading about your accident. I was sure they opened you up and did some damage! I hope you keep going strong with the condition. I wonder how many people have lived full lives and never had it be detected.


Yes there is something very disturbing about the thought of doctors potentially opening up your body and shuffling your perfectly functional organs around because they think they’re supposed to be somewhere else.


Classic refactoring story.

Maybe a tattoo of the organ locations would be helpful?


Unlike most, mine is an exact mirror. I missed it earlier but this is what the Totalis refers to in Dextro Cardia, w/ Situs Inversus Totalis.

Adding a tattoo of my organ placement would be comical. I'd be a human Operations Boardgame by the end of it.


I’ve just been playing that game - the version on ship shelves now is a shadow of its former self. The version I played in the 80’s was excellent.


They'd be dozens of us! Dozens! Haha.

Ah, I was very lucky in the accident. The driver was on his phone and distracted and hit me at 60 kmh. I was very, very lucky.


> hit me at 60 kmh

I was rear ended by a guy going 100kmh while strapped into my seat. I can't imagine.


Wouldn't lucky be not having the accident?


is the majority of people with Dextro Cardio w/ Situs Inversus Totalis on average left handed (handedness innate) ? or right handed (handedness cultural)?

I'd have to check. I'm very right handed. :)

You know, this sounds like the kind of thing you get a tattoo for!


It's on my list! I should probably prioritise it a little higher...


Get it in mirror imaged text :)


“Other side, doc”


Biochemical Individuality by Roger Williams [1] is an amazing read. It discusses a wide variety of "unusual" human physiological characteristics, including bones that only occur sometimes.

One hears the refrain "everyone is unique". The thing is, technically you can say "every factory made part is unique" at some level. But humans are much more unique on many more different levels, than any human-made-machine (things like bone density or blood saltiness vary widely. Indeed, very few measures are uniform for everyone).

The remarkable thing is how the different parts of a living thing can still function well with that capacity to vary.

[1] https://www.amazon.com/Biochemical-Individuality-Roger-Willi...


My favorite was a statistician in the late 40's early 50's who was tasked by the air force to find the 'average pilot'. The reason was new fangled jet fighters were crashing due to pilot error. At higher rates than could be anything but problems with the man machine interface.

He and his helpers took 10's of thousands of measurements of thousands of air force pilots and determined that, there is no such thing as the 'average pilot'.

Well there was. About two dozen of them. Turns out that all the measurements were uncorrelated in the already highly selected group that is air force pilots.

Aerospace manufacturers were forced to redesign cockpits with adjustable seats and controls. And the rate of accidents declined.

> The remarkable thing is how the different parts of a living thing can still function well with that capacity to vary

What's really whack when you consider it is the same neuromuscular system that allows us to walk can also be repurposed to drive a car, fly a plane and operate other machinery.


What's really whack when you consider it is the same neuromuscular system that allows us to walk can also be repurposed to drive a car, fly a plane and operate other machinery.

Isn’t this because we purposely design all those things around our anatomy though?

I’d imagine alien octopuses’ vehicles would be designed around their anatomy and they would have no trouble using them.


Not OP, but I always thought it’s amazing how it becomes second nature.

You think you want to turn left and slow down, not I have to use my left foot to slowly press the brake and slowly move my hands in a circle while grasping.


> use my left foot to slowly press the brake

I'm not a driver, but isn't the left foot for the clutch? Don't you have to use both the clutch and the brake when stopping the car so the motor won't stop?


Fewer and fewer cars have clutches anymore, but if the car does have a clutch, then yes, the left foot would be for the clutch.

You shouldn't use your left foot for braking unless you're a sports driver. I just mispoke.

Oops dammit, I meant right foot, but got confused since it's the left pedal.

Breaking with the left foot sounds really dangerous. What is the right foot doing?

...though I guess you were just reinforcing your point: driving becomes so second nature that you forget the implementation details.


Actually, two feet driving is superior to traditional method in every way, especially on a slippery road. The only problem with it is that when you try it, you are a newbie again, so of course you can mix up pedals just like when you were learning driving. So train it on roads without traffic.

https://www.vox.com/2015/7/1/8877583/two-foot-driving-pedal-...


If you are used to a stick shift car, the issue is that the left foot is too 'heavy' and totally lacks the sensitivity to apply the brake.

At least that was my experience. I drove an automatic for the first time some years ago, and that was the only issue I detected.

The fact that you never have to move your feet from the corresponding pedals actually helps to avoid mixing up pedals.

It would be an issue in a rally when downshifts require a bit of throttle and you have to use two feet for three pedals.


Yes, that's a problem, but I'm used to a stick, and that issue was quickly resolved after an hour or two of practicing. One hint - use your ankle muscles, not calf to apply pressure with a left leg. If you don't have a low traffic road to practice, you can use go-kart for that too.

I'm not sure what you mean, but I noticed back when I was driving stick one of the things I do with my left foot (and I hate how I misspoke and derailed stuff) was lifted my heel from the floor of the car.

With my right foot on the gas and on the brakes I can just pivot my ankle to control the pedal with my heel resting on the floor, but with the clutch you typically have to quickly press it in completely, but then slowly and smoothly release it. Which is easier to do with your heel in the air.


People do totally drive two-footed. In a decently new car there's really no downsides, they'll stop themselves from tanking the engine if you mess up and hit both pedals.


In my experience the concern isn't the damage you cause to your car, but the confusion you give the driver behind you when your left foot resting on the break makes your break lights go on and off

Actually some modern cars do not light brake lights if you press on a pedal lightly, I think engineers are two feet drivers themselves. Test yours!

That's standard in racing.

And race drivers can drive normal vehicles too.

Of course, they are the selected elite.

I am just pointing out this is not something that should be forbidden.


Yeah, I misspoke :P "left pedal" vs "left foot".

Please tell me you meant to say "right foot".


Yeah. I dun goofed.

Or he is in a go-kart. :D


>> What's really whack when you consider it is the same neuromuscular system that allows us to walk can also be repurposed to drive a car, fly a plane and operate other machinery. > Isn’t this because we purposely design all those things around our anatomy though?

Agreed. What's more impressive is that this "single neuromuscular system" can climb a tree, swim across a lake, or hike across a continent.


I am curious what limitations of our anatomy are out of the norm for other intelligent technological civilizations.


This is also described in the book "The End of Average" https://www.amazon.com/End-Average-Succeed-Values-Sameness-e...

Also, maybe more in line with this news:

Freaks of Nature: What Anomalies Tell Us About Development and Evolution

https://www.amazon.com/Freaks-Nature-Anomalies-Development-E...


Very interesting. I have "Intestinal Malrotation" and have had surgery for it (cutting ladds bands). Still experiencing several of the issues that I had before the surgery. I am 28 and was diagnosed when I was about 25-26. It is a very rare condition.

One thing I've learned since I was diagnosed is how little we seem to know about the gut and the surrounding area. I hope more research will shed light for future generations.


One of my cats was born with a diaphragmatic hernia and we didn't know until she was like five years old. Organs were all over the place but things were fine. Stomach was in the upper chest, and the lungs had grown into the lower abdomen.

She ended up showing symptoms of not being able to keep food down (although eating slower seemed okay) and so we got it fixed for a pretty penny. It really seems like depending on where the organs end up, there might not be any issue. I was really impressed with how mechanical the problem is and how reliably successful surgery is. Presumably there could be complications if there's a real tangle.


How does the body figure out which side is left and which side is right? I can think of an easy way to break symmetry but it seems harder to consistently know which side is which.


Short answer: at the single cell stage there's a cilium that, spins in a single direction and establishes chirality. People with immotile cilia thus have a 50/50 chance of getting SI, because the developing body chooses randomly.


I thought it was multiple cilia, wafting fluid in a current around a cavity, a bit later than the single cell stage but still very early?

Either way, the reason a cilium spins in one direction rather than another is that the motor is a molecular machine built out of amino acids, and amino acids are themselves chiral. If you made a person out of amino acids with the opposite chirality, their cilia would go the other way, and their body would be flipped. It's a lovely example of magnifying something up from the molecular to the macroscopic.


The motion of the cilia is not directly coupled to the chirality of the amino acids, you could probably make a cilium that obligatorily moved in the other direction with a handful of mutations.


Maybe it figures out left/right but mixes up up/down :) Flipped upside down and rotated 180 degrees is the same thing as flipped left/right.


The article states that situs inversus sufferers "invariably" have severe heart defects, and generally gives a pretty bleak outlook for the condition. And yet this woman made it to 99, without diagnosis, despite several surgeries.

I wonder if anyone has done a statistical analysis to find the true number of undiagnosed cases, because it would seem to be very high.


They explain the likely reason:

> But Bentley was an anomaly, one of the few born with the condition that didn't have heart defects, Walker said. "That is almost certainly the factor that contributed most to her long life," he said.


Which means that they shouldn't have used the word 'invariably'.

I'm also not keen on their use of the word 'survivor' in the same paragraph.


I agree based on anecdata. Once every year or two (most recently in February) I encounter it. It isn’t always known about and in the recent case the patient had had ultrasounds of the abdomen previously. I do MRI scans, but have worked in a cardiac centre which might distort things (though NZ’s population is only 4-5 million).


My uncle has a condition where all his organs are flipped left to right too, I think it's a slightly different condition though.


There’s multiple variants of heterotaxy syndromes (left and right variants) as well as many on a wide spectrum. We see a couple a cases a year pass through the radiology department.

The working understanding is that these are ultimately ciliary dysfunctions in utero which cause aberrant gradients for body patterning.


This condition is called situs inversus. There’s another similar one called dextrocardia where only the heart is on the wrong side (literal meaning is “right sided heart”).


My cousin has it, my mom always blamed it on her parents doing drugs.


I've already planned to do willed body when I pass on. There's nothing like it in anatomy class. Ours had a pneumonectomy, which was interesting to discover (why was the tissue different on both sides?).


My very elderly paternal grandfather has a similar condition. He had a minor abdominal surgery (spleen or gallbladder) in the 1960's, and it took an unusually long time to find the correct surgical site.


The molecular mechanism that determines left-right asymmetry in the body is extremely interesting. For mice, it comes down to Nodal flow from ciliary movement that occurs around E8. The cilia rotate clockwise to generate leftward flow to establish a gradient to generate left-right asymmetry.


Why does a prefect mirror image of organs in your body result in things not working? One would assume most things would work...

The only explanation I can think of as to why this would cause an issue is that not everything is mirrored.


In many cases, it doesn't cause problems.

In the absence of congenital heart defects, individuals with situs inversus are phenotypically normal, and can live normal healthy lives, without any complications related to their medical condition. There is a 5–10% prevalence of congenital heart disease in individuals with situs inversus totalis

https://en.m.wikipedia.org/wiki/Situs_inversus


I understand this. My question is what is the mechanism that causes the 5-10% prevalence? Was something not mirrored?

I only ask because it wasn't explained on wikipedia.


The rest of that paragraph: most commonly transposition of the great vessels.

From my read, yes, sometimes not everything is mirrored. But, also, a problem with the cilia can be a cause of the organ reversal. This will cause additional health problems.

Just trying to be helpful. Hope that answers your question.


Here is the Associated Press News story on this.

https://www.apnews.com/456c51d0a69b4b86bde1a52e9a5e9a60


> To honor and respect the privacy of those who offer their bodies to science, no further details are given medical students about the person who had once inhabited the body lying on the silvery slab before them.

Unless you are special I guess?


It sounds like they talked with her surviving family and got permission. The second half of the article is from them.

Why is this so rare?


Given the number of people who commented here with their own stories I wonder if it actually is rare.

I imagine you only find out if you're undergoing x-rays, operations and similar.

If there are no obvious side-effects there could be a lot more flipped-people out there.


Doesn't almost everybody receive x-ray, ultrasonography, abdominal palpation, stethoscopy, ECG or surgery today? Does it happen often that a person grows up never ever examined by a doctor closely?

Probably as developmental defects go it has to happen really early and be just right or everything goes sideways.


Why is this even a defect? Why do the body parts have to be located the way they usually are and not mirrored? Why dos the body development orientation take the right-handed or the left-handed direction randomly?


[flagged]


Please don't do this here.


Autoplaying video that starts after I already scrolled down and switched to HN tab with the comments? Thanks, no.




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