Rose Marie Bentley lived for 99 years with organs in all the wrong places
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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!
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.
I was rear ended by a guy going 100kmh while strapped into my seat. I can't imagine.
Adding a tattoo of my organ placement would be comical. I'd be a human Operations Boardgame by the end of it.
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.
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.
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.
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.
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...
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.
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.
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.
...though I guess you were just reinforcing your point: driving becomes so second nature that you forget the implementation details.
https://www.vox.com/2015/7/1/8877583/two-foot-driving-pedal-...
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.
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.
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.
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?
Agreed. What's more impressive is that this "single neuromuscular system" can climb a tree, swim across a lake, or hike across a continent.
Freaks of Nature: What Anomalies Tell Us About Development and Evolution
https://www.amazon.com/Freaks-Nature-Anomalies-Development-E...
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.
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.
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.
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.
> 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.
I'm also not keen on their use of the word 'survivor' in the same paragraph.
The working understanding is that these are ultimately ciliary dysfunctions in utero which cause aberrant gradients for body patterning.
The only explanation I can think of as to why this would cause an issue is that not everything is mirrored.
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
I only ask because it wasn't explained on wikipedia.
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.
Unless you are special I guess?
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.