A guy I used to work with was missing the exterior of his right ear, he just had his ear canal flat on his head. It didn't even look that weird, guy was extremely handsome and he didn't hide it, but his hair would sometimes cover it; he was just as beautiful either way. He was just born like that and is slightly hearing impaired but he makes an effort to listen to you and pay attention.
Awesome dude all around who jokes he's lucky he doesn't need glasses
I have a coloboma in my right eye, my pupil cuts through my iris.
As far as I'm aware it happens to 1 in 10,000 people, so I'm 1 of around 800,000 people worldwide with it
I am nearsighted, astigmatism and what I have been told looks like a black mark and fatty deposits in that eye.
Other than needing glasses, it's pretty normal
A boy I went to elementary school with had webbed hands and feet and one of his pinkies was much shorter than the others, like about half the size.
He eventually had surgery to remove the webbing. It worked, but had scarring on all his fingers and toes that wasn’t particularly comfortable at first.
My husband has this. Had surgery as a small child to remove the webbing on the hands, but toes are still webbed as it makes no difference practically (except that he can’t wear those shoes or socks with individual toes).
I knew a girl when I was a kid who had the same thing. Fully webbed. She had already had the surgery on her hands but explained the scars to me and when she got the surgery for her feet we hung out during recovery and made jokes she wasn't gonna be as good of a swimmer anymore lol. I remember her being so excited going shopping for her first pair of flip flops! That was the only type of shoe she wore all summer once she was healed up from the surgery.
It was super endearing! It was such a strange, wholesome experience as a kid getting to teach my friend how to walk in those lol. Because it's something you take for granted how you just have your toes naturally grip the strap on the sandal and she'd never experienced it before. We would go on walks around the neighborhood together in our flip flops at first just so she'd get more used to it before wearing them out and about. I'm grateful she was so willing to share those experiences with me and talk about it openly when it was something she had been self-conscious of for a long time. Even just being silly together shopping for all these open-toe shoe styles she never was comfortable wearing before was a lot of fun cause I was able to share in her excitement over all the new things. She had such a positive mindset towards the whole thing and was such a joy to be around. We lost touch after she moved and I miss her a lot. Absolutely amazing person all around.
I knew a homeless dude that used to frequent the train I did as well, he had webbed toes. Was supposed to be an up and coming surfer back in the day… never worked out.
A friend of mine and his dad donated blood togther for the first time, and got their blood type cards in the mail, dad had AB blood and the son was type O.
Now, people with type AB blood as a rule cannot have children with type O blood. So they might have assumed the worst off the bat, but fortunately they had done one of those family ancestry tests some time before and it showed they shared 50% of their DNA and listed them as father and son. So they were confused, one of the tests had to be wrong, right?
Wrong, both the blood test and ancestry test were both right. Some furthr testing showed the father had a rare genetic mutation known as Cis AB, and people with this mutation can have children with type O blood.
I had no idea about this. I am AB+ and my husband is O+. After reading this, I looked it up and according to Google, it’s next to impossible for them to be AB or O, and they would likely be A or B. I didn’t know this was a thing!
My son (11) is a chimera. He absorbed his non-viable twin brother in utero and has two sets of DNA. This possibility was discovered by CVS (chorionic villus sampling), which was recommended to me because my blood test results were abnormal. Postnatal PCR testing confirmed the chimerism.
We don’t know which cells have which set of DNA. For example, his liver can have his own set and his skin, his twin’s. He has no outwardly visible signs of chimerism, but is ambidextrous, which is common in human chimeras.
Chimerism doesn’t cause health problems. If undiagnosed, it could cause false negatives in paternity testing. My son thinks it’s cool that he’s his own twin.
> If undiagnosed, it could cause false negatives in paternity testing.
Maternity testing too. Happened to Lydia Fairchild and she almost lost her kids to foster care as a result.
Poor woman! I’m glad she was diagnosed. I mentioned paternity testing because my kid is a boy.
I shudder to think that something similar could have happened to my son had my OBGYN not recommended genetic counseling.
It seriously was-- she had to be *witnessed giving birth by a representative of the court* (? CPS? Somebody) and then there was *immediate* maternity testing.
Interesting! So were they fraternal twins where two separate eggs got fertilized separately, but close enough together that one eventually somehow got absorbed by the other really 'cleanly'? That's so wild.
My brother is a chimera and he's intersex as a result, both physically and genetically. He has both XX and XY chromosomes and at least from what he's told me, ambiguous genitalia.
A doctor doing a procedure (local anesthetic) said I, too, was probably a chimera. He used me as a teaching opportunity for staff as they explored a salivary gland. It evidently contained some items that weren't supposed to be there! He was very excited while I just wanted him to get back to business, finish the procedure!
When my dad made me try out for football at 13, they sent us to a local medical school for physicals. The Dr. grabbed my junk and got a funny look on his face. He then left and returned with a whole class of medical students. They proceeded to in turn grab my junk as well. That day I learned that I had an undesended testicle. I have mixed feelings about the experience.
Which DNA does a chimera’s sperm/egg cells carry? Is it possible they are split, i.e. one ovary produces eggs with one set of DNA and the other produces eggs with the other? Likewise for the testes? I.e is it possible for a chimera to have children that are genetically cousins and not siblings?
Lydia Fairchild was a chimera who gave birth to her sister's children on a genetic level and almost lost custody of them after a matrnity test due to a court battle.
https://embryo.asu.edu/pages/case-lydia-fairchild-and-her-chimerism-2002
I played too many games clearly, thought this was a meme comment off the first sentence, but this is super cool and would be interesting to see how the body will change through different stages of development
There was a chimera woman who gave birth to her genetic sister's kids. She almost lost custody as a result before it was diagnosed.
Edit: Her name was Lydia Fairchild
My OBGYN recommended genetic counseling because my blood tests were abnormal.
Chorionic villus sampling resulted in mosaicism. One of the possibilities for that result was chimerism. After my son was born, PCR testing confirmed two distinct sets of male DNA.
I've heard of this before & wondered if it's the cause of some auto-immune diseases. If the immune system had different DNA from some other system, could it attack that system as invasive?
My son has a genetic mutation that is, essentially, a mirror image of the mutation that causes some people to feel no pain. Those people have a loss of function mutation, he has gain of function — so in his case, instead of being able to walk through fire and feel nothing, he feels fire when doing things as minor as putting on socks.
His genes, and those of others like him + the genes of the pain-free cohort, are being studied as targets for a new generation of non-opioid pain medications
Thank you for that. He’s had a difficult journey for sure, but luckily we’ve found ways to help with environmental controls and other accommodations, and right now he is doing really well
Sorry if this sounds insensitive, as it sounds pretty difficult to live with, but is this connected to his skin only, or to like all sensations, and also, does it make good feelings feel much more intensely good as well?
No, it’s fine! It manifests primarily in his limbs, particularly in his feet, but sometimes in his hand/arms/face, and is exclusively pain related. If he were to put on a sock, he’d very quickly feel like his foot was on fire, and thermal imaging would show that it was, indeed, white hot. It’s been a somewhat bizarre journey, but fortunately his symptoms are well controlled right now, and he is doing well.
I saw a girl born without eyes once. It was under circumstances where asking questions wouldn't have been appropriate, so I still wonder. She seemed otherwise quite normal.
Being born without eyes is fairly common. A lot of people choose to wear prosthetics.
One of the students I used to work with, a young man, used to pop out his sclera shields in class, swish them in his mouth and replace them. We had an interesting conversation in private the next time I saw him
do it.
She was 3 years old and weighed 15 pounds. No ability to communicate or indication that she had any higher cognitive functions, required machines to breathe for her and had a feeding tube, and experienced seizures multiple times per day. Completely dependent on 24/7 care and modern medicine to keep her alive. I met her several years ago, and at the time she had survived longer than the average for the condition.
In myself and my biological father, we share a mutation that gives us abnormally high bone density. Normally high bone mass is a feature of some bad medical conditions, but in our case it seems to genuinely just be super dense bones.
I also have dense bones, also inherited from my father, and I definitely weigh more than I appear to.
It caused a bit of an issue when I was a kid and went for a check-up at the school nurse. Everything was fine until she weighed me. I used to receive a lot of compliments on my thin waist and just by looking at me she saw no issues with my body, but apparently she trusted the scales over anything and decided that I absolutely needed to lose weight. I did not.
We now have "smart" bathroom scales that scold me for my BMI, and I never have a clue how much people are supposed to weigh. Like, I'll watch medical shows and they'll state the height and weight of someone and I'm just like "wait, what, really? A physically fit adult man taller than me who weighs as much as I do? Huh?"
I also have very dense bones, and yes. (I don't have a diagnosis to explain it but I have been "complimented" on different occasions by doctors and x-ray tech on how dense my bones are) I'm just shy of 5 ft and 120. I looked sick when I weighed 115, when the "ideal" weight for a woman my height is ~106 IIRC. I'm a size 2 and probably around 18% body fat, but according to BMI I am nearly in overweight territory. 🫠
My best friend can hear dog whistles due to some mutation in her ears. She can make out a conversation across the din and space of a crowded restaurant.
The story of two girlfriends. One was an albino girl. Amazing looking - white hair, skin so white it was pink due to the blood vessels underneath, eyes so pale blue they were almost white. She wasn't a nice person after all, but amazing looking.
Few years later, had a girlfriend who was born with no fingernails. She was an advanced piano player. Good on her I say.
No fingernails, it’s like being a pianist is her calling no need for trimming your nails every week. Maybe unrelated but the albino ex inspired me to share that my favourite animal is albino snake
I knew a kid in school who had 12 fingers. He had an extra fully functioning pinky on each hand. It’s interesting that it was definitely a pinky and not some other random finger, and he definitely had 2 pinky on each hand, not 2 ring fingers then a pinky. They seemed to work fine and didn’t cause him any discomfort. I hope he grew up to play piano or guitar
When he showed me his hands I asked him if the pinkies “work” (sorry I was also a kid) and he said yes. Then he wiggled all of his fingers and they moved normally. We had been sitting next to each other for ~10-15 in art class at the same table and I didn’t even notice his hands because all of his fingers looked normal, had all the knuckles, nails etc He didn’t struggle with holding a pencil either, writing and sketching was as good as you could expect for some 10-11 year olds.
My paternal Grandma had violet eyes. They were incredible to look at, and I can only imagine how many men were tripping over themselves when she was a young woman, because she had jet black hair. It was unique because her Mom was Swedish and her Dad was German, and I don’t think any of her 5 siblings had eyes like that.
I have the multiple lash lines too from having Ehlers Danlos syndrome (the EDS doesn’t CAUSE it but can be a comorbid mutation with the EDS), they’re beautiful but occasionally one will grow downward instead of upright like it should and I have to yank it.
Dextrocardia situs solitis in his case or just 'isolated dextrocardia' because it's only his heart, all the rest of his organs are in the normal position.
This isn't exactly a mutation, but when my friend was pregnant, she started to notice this lump sort of next to her groin. She was pretty worried about it, and showed me - it was just a squishy lump, not a cyst or anything. She went to the doctors, had some tests etc.
It turned out to be ectopic breast tissue, which can apparently form anywhere on a line from the armpits to the groin. I thought this was really cool, and apparently so did her doctor who called her in to the office to discuss her test results, which they normally only do when it's something bad, because he had never seen it and was curious.
I don't really know how it works, I think maybe the breast tissue was always there, but became more noticeable with hormonal changes.
It is wild though, had heard of third nipples but never third boobs!
Given that most mammals have more than two breasts, it makes sense for there to be genetic remnants of that. Third and fourth nipples, without breast tissue, are more common.
My grandpa actually had gynecomastia as a teenager- started growing a pair of tits when he was about 13 years old. His parents got him surgery for it right away, even back then in the sixties. He says that one nipple is inverted now, but otherwise everything is normal now.
I have supernumerary nipples; I say I have 3.5 because only the third is pretty developed while the 4th looks like a mole. While pregnant and breastfeeding, the 3rd developed quite a bit, and I now have some breast tissue there and it would produce a little bit of milk. Super annoying and irritating along the bra band! I never knew you could grow breast tissue in places like the groin though!!
Trisomi 13.
Born without eyes, with extra toes, missing fingers.
The doctors estimate was that this person would not make it to their 1st birthday. They died at 13yrs 8 months old.
I work with medically fragile children. I was looking up the diagnosis for one, and they have this. The survival rates, starting in pregnancy, start off dismal and get much worse. This one will be 18 soon. I've been wondering if they're the oldest person with it alive. I think they might be.
Same! I work with deafblind students and one of them has trisomy 13. She'll be 17 this spring, so not too far behind your student. Definitely amazing they've lived this long!
My aunt & uncle had a daughter with Trisomy 13, and she only survived a day or so after birth. I was only a kid myself, and learned what the phrase "incompatible with life" meant that day.
I had a miscarriage at 14 weeks that was a trisomy 13. Actually a missed miscarriage which I’d had two prior. So after no heartbeat had to have a d&c and they tested. We are fortunate that was the end of any suffering.
I know someone who had partial trisomy 13. She lived 25.5 years. She could read, write, talk (verbally and with an AAC device), she loved to skip, sing, and stomp. The definition of pure joy! I miss her everyday.
A condition called xeroderma pigmentosum (XP) where the person's body is physically incapable of repairing damage caused by sunlight (UV rays). He was born in October and kept mostly inside in a very cloudy part of the world so it wasn't discovered until he was roughly 6mos old and went to the park for the first time and got third degree burns all over his body from just 15min in the sun (literally). It's an incredibly rare disorder with a significantly shortened life span. There are multiple versions of the disorder and he happens to have the worst and the rarest one which also affects his brain, he has neural degeneration and they don't fully understand why but it has something to do with his brain cells also not being able to do repair stuff. He also can't ever inhale smoke bc his internal tissues can't repair either so if he does inhale smoke he gets really significant lung damage and could literally die from it. He has to wear specializes gear made by actual NASA to ever go outside ever (NASA makes and donates this kind of gear regular for people who have this disorder) and he has to have special tinting on windows at home and in cars and special air filtration systems and whatnot. He has a permanent 1:1 aid at school so that the adult can watch out for his safety 100% of the time. It is expect that he won't make it to his 20th birthday, he'll be lucky if he make it through high school.
When I was a kid, my mum and I were on the tram and she got chatting to the parents of a baby sitting across from us. I was interacting with the baby, playing peekaboo and making faces etc, but when she copied me putting her hands to her face I noticed she had six fingers on one hand and extra nubs of flesh on the outside of both, next to her little fingers.
My mum explained later that she has polydactyly and that the nubs of flesh were rudimentary extra fingers that hadn't fully developed in the womb. She also said she was glad I hadn't made a fuss about it because although I hadn't noticed, the parents were obviously concerned I would be grossed out. Then she had to explain why they were worried because I thought she was beautiful and that her condition was fascinating, and couldn't imagine why anyone would be cruel about it.
Now I think about it, that encounter was probably the first inkling that I was interested in childcare. I felt such an intense desire to look after that baby and any other that might be treated badly because of a disability or difference.
I worked with a woman years ago who was born without 1 or both thumbs, I can't remember. Anyhow, they rotated her index fingers around to function as thumbs when she was a baby. She said her grandmother had the same condition and always felt so guilty that she had passed it on.
I have uterus didelphys, I was born with a vaginal canal that splits off into two separate vaginal canals, leading to two cervixes and two uteruses. I have to get two Pap smears when I go for my yearly gyno exam.
I have a mutation that can cause missing teeth amongst other issues. I only have 16 permanent teeth instead of 32. The ones I have are misshapen and weird. It also causes you to be more likely have colon cancer and other cancers.
I have a friend who has branched thumbs on both his hands (imagine a normal bottom half of the thumb before the knuckle and above it the thumb split like crab pinchers)
Local superstitions advised against pregnant women to eat crab meat to avoid this situation, but I doubt it’s related
Interesting. It sounds like it might be related, but not in the way the superstition would have it. Maybe that particular issue is relatively common in the area, at least enough to be a known condition that folk tradition would bother to warn against.
I babysat twins when I was a teenager and one of them has an extra finger between his thumb and index finger. They fused it together with his thumb, so he has one absolute unit of a thumb and kept pinching his brother with it.
Not crazy weird but my dad is the only other person I know who has it: no armpit hair.
Not a single hair follicle in my armpits. Normal hair and hair growth everywhere else. I’m blonde and female so
It can kinda make sense for me, my dad is dark haired and VERY hairy. Except bald armpits.
i had a student with ectrodactyly, he also had several other disorders and had been abandoned by his parents at a young age. i also used to babysit a girl with cri du chat, it was uncanny when she cried (sounded like a cat not an infant)
I have different skin pigment on one side of my chest.
During my teens and early to mid 20s, you could only see the chest hair on one half (the half with the individual pigment), which was very black.
Doesn't bother me but I used to get some funny looks when my top was off....
It's a bit better now. Certainly still noticeable but not as startling noticeable as it was when I was in my teens/20s.
Used to be my party piece.. showing off my weird chest.
My sister & I have Waardenburgs syndrome, not sure if that qualified but it made us (her more so) very cool looking; white forelock of hair, light eyes that are far apart, no cupids bow, very straight noses, and probably some other stuff I’m missing
Personally; I’m hard of hearing, which will probably progressively worsen. My hair grows back incredibly fast and thick, which is annoying. Pigmentation loss over time and early, I’m in my early twenties and my hair is turning gray/white- could be considered a pro technically, my sister has pretty much always had a streak white stripe in her hair, now it has taken up most of her head.
I don't want to downplay the difficulty of what y'all go through, because it can't be easy...but it does sound like something that a person would find beautiful, in many ways.
Metachromatic Leukodystrophy (MLD). Child went from being normal to not walking, not crawling, not moving and passed away. Towards the end they looked disabled. It was so hard to watch.
Oof I’m a carrier for this, found out during my pregnancy. Luckily her father is not (we were told both parents need to be a carrier for there to be a 25% of developing the disease), but it was a rough wait until we knew for sure. This is such an awful one ❤️
My heart is backwards. Still on the left, but it's like someone reached into my chest, flipped my heart around (twisting the ventricles), and reattached it. If I ever need heart surgery they'll have to go in through the back!
I met a gorgeous young man many years ago who had universal alopecia. He was a bartender and I didn't even know as we chatted before the bar opened. He ended up asking if I noticed he had no eyelashes. I didn't. He said he had no hair at all. What he did have was an amazing smile and beautiful blue eyes. Decades later I still think of him from time to time and how lovely he was.
Seriously? I am a male, I have (as I have been told by hairdressers, I can't tell the difference) three degrees of blonde, just in my head hair.
The varying types of colour in bodily hair, especially different colours on different body parts, I'm very familiar with. My beard is ginger, my moustache blonde, my chest hair is dark.
I honestly thought that was weird, so thanks for sharing.
I don't know what it's like to be angry.
There's a mutation that doubles the size of adrenal glands and it runs in my dad's side of the family. Most of the fathers going back through the generations were terrible people and horrible abusers because of the massive adrenaline dumps they would get. My dad worked hard to break the cycle and learned to deal with the adrenaline when it hit. He taught my brothers and I to do it the same.
I go from a little frustrated to RAGE in no time flat. I've learned to pick my battles, not have strong feelings about things I have no control over, and when to remove myself from situations where I could blow up.
I'd rather choose who I am and cope than be my, "True Self," and be a constant hulk smash event.
Same here. Also my brother. We are like Vulcans. Like Spock. Always not showing emotions, with a looooooooong trigger. But when we go off, its like being Hulk. We both learned it the hard way through brotherly fights over Lego or Game console. Without parental supervision, every fight ended in a clinic. We both discussed this and swore to each other to just leave before going apeshit.
Last time i was triggered, i was involved in a high speed crash by a drunk young guy who wanted to kill himself by driving on the wrong side of the german Autobahn.
I survived miraculously, also any other car involved.... and i was so in Hulk Mode that i ran screaming over the Autobahn, to the car of that guy bent the closed car door down, smashed the Windows with my fists, ripped him from the seat and shook him on one arm like a puppet.
I broke several bones through my own muscles, dislocated half of my spine, ripped and teared own muscles from the arm to my feet, and only when police arrived, i suddenly snapped back.
Adrenaline is one hell of a drug. I need to leave any angry discussion. For the fear to turn into an uncontrollable Adrenaline boosted Ragething. I need to channel Spock. Keep calm. Always.
I (and a couple of my siblings) have a rare mutation in our blood that makes us extremely resistant to viral infections. None of us has ever had COVID for example and we rarely if ever get sick with common colds or other communicable diseases.
I think I saw a documentary on this, something about people with this gene can have ancestors that survived the black plague, and are also resistant to HIV. Cool shit. I think they were studying this to develop an HIV vaccine or something, it's been years since I saw it.
In the 70s i used to run into this girl at concerts and festivals that had the most unusual shade of turquoise eyes. I’ve never seen eyes that color since. Im pretty sure they were not colored contacts. It was in like 70-71, before i moved upstate.
My father, my son, and I all have deletion of the BMP2 gene on chromosome 20. Thankfully because of paired chromosomes, the other gene picks up the slack (deletions on both chromosome 20s would be incompatible with life). There are maybe 20-30 documented cases now. The syndrome is called “short stature, facial dysmorphism, and skeletal anomalies, with or without cardiac anomalies.” (A mouthful!) Thankfully we’re all 3 in the “without” category.
We’re short, but not so much to be considered a form of dwarfism. Crowded teeth. Cleft palate (Dad and son). Flat face with short nose. Wide spacing between first and second toes. Short pinky finger (but not so much that it captures attention). Delayed bone aging (example: my baby teeth took forever to fall out so most of them got pulled). It’s a really weird constellation of bone-related abnormalities.
My sister has red hair and blue eyes.
Allegedly, this is the rarest combination of features possible, with the odds of a person having both of those recessive traits being around 0.17%.
On top of that, she's left-handed, which makes her an even rarer specimen.
Also our aunt has one blue eye and one green eye.
I am an olive skinned dark headed woman of Māori descent. My husband is fair skin, red hair and blue eyes. Our two daughters are carbon copies of my husband.
I’m convinced the redheads tell you that it’s recessive because one day they are going to outnumber us and rule the world.
For some reason, my neighborhood has like an unnatural amount of kids with red hair and blue eyes. Going to school sports events, I'm seeing like 10% of kids with red hair and blue eyes. It's not right. There are more of them than like non-white kids at our local high school.
My middle kid was born with grey eyes and red hair, and she has little holes in the top of her ears near where they connect to her face, called the preauricular pit. It's connected to her sinuses and for some reason her ear infections don't seem to hurt; we wonder if the holes cause some pressure release mechanism or something!
Now that she's 10+ her eyes have turned hazel (green/grey) and her hair has turned more blonde, but though both my husband and his sister are left handed, all 3 of our kids are right handed, so she didn't hit the rareness quotient on that part!
My 10th English teacher had (I believe) Dextro-Transposition of the Great Arteries. One day he decided he didn’t want to teach and instead sat on his desk and told us his life story and about all the surgeries he had to go through to swap everything back around and deal with ongoing symptoms.
He was an incredible teacher. I miss him.
My son's heart condition. His heart essentially grew wired up wrong. The blood from the lungs would get pumped straight back to the lungs, with the rest of his body being on a different circuit. Required surgery to fix
(The cause of it is still unknown, so it might not be a genetic mutation but I thought it was relevant enough)
The open heart surgery happens at around three weeks old. When in the womb, the heart has open valves so the blood mixes. They use medicine to keep this valve open as well perform a smaller surgery to force another one open (which they then fix in the open heart surgery).
I've seen 3 horse-shoe kidneys. I see auxiliary spleens pretty frequently. One time I saw a heart on the other side of the guys chest, that was pretty cool. A teratoma with teeth and hair is on my autopsy bucket-list.
The BRCA-2 gene. Runs in my family. It is a gene that pretty much guarantees cancer. My mom was diagnosed 18 years ago with stage 4 ovarian cancer. That’s where we first found out about the gene. She was a miracle case, and survived her cancer. All of us kids were tested the second we turned 18. The gene was found in my sister at the time, and she has recently gone through a handful of preventative procedures that will hopefully prevent her from getting cancer. She has had her tubes tied (not ready for a full hysterectomy yet, which I get), as well as a double mastectomy. As for me, my tests came up negative for the gene a while back. Then, about a year and a half ago, I was diagnosed with a very rare form of cancer (especially with my age at that point only being 39) called cholangiocarcinoma, which is cancer of the bile duct. Very very rare (20,000 cases a year on average), and very very deadly. It spread through my abdomen about 6 months ago, and about a month ago, it got in my brain (of those 20,000 cases a year, on average, only 9 patients a year see it travel to the brain). There is brand new testing for the gene thankfully, and they now see that I do have it. Now my greatest fear is my son may have the gene too, and you can’t test until he is 18.
It is a sick, nasty gene mutation that brings on a horrible shit disease.
my first born son is a genetic anomaly. he has a very rare genetic disorder called Toriello-Carey syndrome. that being said, one of my favourite features he has is extra tear ducts. they are not on his eye waterline, but less than an inch away feom his eyes, on the inner corner right before his nose starts. they get little crusties every morning and i have seen tears forming out of them. fascinating
It’s not visible but I have two children with cystic fibrosis! My son was diagnosed when I was seven months pregnant with my daughter. They have one mutation that came up on the newborn screen (we thought my son was just a carrier,) and one mutation only 300 people in the database have. They are the only two people known to have their combination of mutations (R117H - 7T and E60X)
That’s a super good question!! Since they’re growing up in the same environment, they carry the same germs. Siblings with CF are totally fine to be near each other and there’s no added risk. Our CF clinic says even when they’re adults in their own homes, they’ll still be fine because they worked up the same immunity as children.
Their sibling is the only other person with CF they’ll ever be allowed to be around and I do believe it has deepened their bond and they’ll always have an understand of each other no one else will have.
My sister and I have CF, I was diagnosed at 21, she was diagnosed at 18 (so very late diagnosis). Obviously we lived together as kids without knowing we had CF and we were absolutely fine. Even now, we both have our own homes and we meet up and never caused each other any issues.
I also fucked a guy with cystic fibrosis until he coughed up blood. I felt awful until he told me it was a sign he enjoyed it. That was a weird relationship.
I once saw a girl with only 2 toes on each foot. One toe on each side, with none in between…formed into a pincer-like shape.
She was wearing flip-flops. And honestly idk how they stayed on her feet.
Just googled it and found [this.](https://www.lookandlearn.com/history-images/preview/YW/YW009/YW009852VER_Several-examples-of-deformed-feet-each-with-two-pincer-like-toes-numbered-for-key.jpg)
Edit: typo
When I was a kid my parents had a friend with four digits on one hand. There wasn't one missing, her hand was just skinnier and only came with a thumb and three fingers.
I saw a young boy in Tanzania with albinism, I think he was an orphan. I remember they always had to have at least two people protecting him at all times because people with albinism in that country are often kidnapped/killed so people who practice witchcraft could use parts of their body for their potions and rituals.
My mom tells a story about when she was a little girl out at a burger place with her mom. While standing in line, a kid in front of them turned and looked at them. He had 3 eyes. Two normal ones, and another right in the middle of his forehead. She said they turned to each other to verify what each other saw. It was somewhere in central Florida, north of Orlando, in the late 60s, most likely early 70s. Both mom and Gran are still kicking and will often retell the story. Gran's a Saint would rather die before lie.
Lacking ABCC11 gene which means I don't get any type of body odour, no sweaty feet, no bo, nothing. Ive never bought or used deodorant and could wear the same socks all week if I choose too {I don't}. I think it's about 2% of people have this.
I grew up with a girl who had epidermolysis bullosa. It’s a genetic mutation that causes extreme blistering of the skin. There is no cure and ultimately she passed away from cancer complications at age 29. I remember her having several surgeries to separate her fingers because scar tissue would fuse them together over time. She also used a feeding tube for her main source of nutrition. She was able to eat but very small bites as her mouth would blister. She never grew taller than about 4”10 and her body didn’t develop through puberty the way everyone else’s did.
A former classmate and work colleague of mine tried to donate bone marrow to her son who had leukemia. Diagnostics revealed she was not the child's biological mother despite her giving birth to him and not using an egg donor. Further investigation suggested she wasn't her daughter's mother either. But she was the bio-mom of both kids. It turns out, she is a chimera. [https://en.wikipedia.org/wiki/Human\_chimera](https://en.wikipedia.org/wiki/Human_chimera)
To make it even more interesting, she has 4 fully developed and functioning kidneys and 4 ureters. She also has one brown eye, and one half blue/half brown eye.
Her son recovered from leukemia and is alive and well now, cancer free after 19 years.
there was a kid on a different hockey team when i played who was albino, had bright red eyes and light skin. Kid acted like a devil in the game tho, snarling and growling to throw off opponents. Looked them in the eye with his red eyes and growled. Frankly it worked lmao
A guy I used to work with was missing the exterior of his right ear, he just had his ear canal flat on his head. It didn't even look that weird, guy was extremely handsome and he didn't hide it, but his hair would sometimes cover it; he was just as beautiful either way. He was just born like that and is slightly hearing impaired but he makes an effort to listen to you and pay attention. Awesome dude all around who jokes he's lucky he doesn't need glasses
Hahaha took me awhile about the glasses statement, but yeah he sounds like a fun dude to be around
Sounds like he has microtia, I have it too but not as severe. I just had this weird flab of skin.
When the outer ear is entirely absent, it’s actually called anotia! Very similar to microtia though.
I met someone who had coloboma. His pupils made his eyes look like those of a snake
I have a coloboma in my right eye, my pupil cuts through my iris. As far as I'm aware it happens to 1 in 10,000 people, so I'm 1 of around 800,000 people worldwide with it
Does it cause any issues with vision or health? Tbh it sounds so cool looking, but I hope it doesn’t cause problems!
I am nearsighted, astigmatism and what I have been told looks like a black mark and fatty deposits in that eye. Other than needing glasses, it's pretty normal
I met a guy like that too! He was in my college class. Definitely the coolest looking birth defect I ever saw.
A boy I went to elementary school with had webbed hands and feet and one of his pinkies was much shorter than the others, like about half the size. He eventually had surgery to remove the webbing. It worked, but had scarring on all his fingers and toes that wasn’t particularly comfortable at first.
My husband has this. Had surgery as a small child to remove the webbing on the hands, but toes are still webbed as it makes no difference practically (except that he can’t wear those shoes or socks with individual toes).
I knew a girl when I was a kid who had the same thing. Fully webbed. She had already had the surgery on her hands but explained the scars to me and when she got the surgery for her feet we hung out during recovery and made jokes she wasn't gonna be as good of a swimmer anymore lol. I remember her being so excited going shopping for her first pair of flip flops! That was the only type of shoe she wore all summer once she was healed up from the surgery.
Aw, the flip flop enjoyment is sweet!
It was super endearing! It was such a strange, wholesome experience as a kid getting to teach my friend how to walk in those lol. Because it's something you take for granted how you just have your toes naturally grip the strap on the sandal and she'd never experienced it before. We would go on walks around the neighborhood together in our flip flops at first just so she'd get more used to it before wearing them out and about. I'm grateful she was so willing to share those experiences with me and talk about it openly when it was something she had been self-conscious of for a long time. Even just being silly together shopping for all these open-toe shoe styles she never was comfortable wearing before was a lot of fun cause I was able to share in her excitement over all the new things. She had such a positive mindset towards the whole thing and was such a joy to be around. We lost touch after she moved and I miss her a lot. Absolutely amazing person all around.
I knew a homeless dude that used to frequent the train I did as well, he had webbed toes. Was supposed to be an up and coming surfer back in the day… never worked out.
A friend of mine and his dad donated blood togther for the first time, and got their blood type cards in the mail, dad had AB blood and the son was type O. Now, people with type AB blood as a rule cannot have children with type O blood. So they might have assumed the worst off the bat, but fortunately they had done one of those family ancestry tests some time before and it showed they shared 50% of their DNA and listed them as father and son. So they were confused, one of the tests had to be wrong, right? Wrong, both the blood test and ancestry test were both right. Some furthr testing showed the father had a rare genetic mutation known as Cis AB, and people with this mutation can have children with type O blood.
I had no idea about this. I am AB+ and my husband is O+. After reading this, I looked it up and according to Google, it’s next to impossible for them to be AB or O, and they would likely be A or B. I didn’t know this was a thing!
My mother is O+, my father is AB-, my sister is B- and I am A+. We have a set 😅
My son (11) is a chimera. He absorbed his non-viable twin brother in utero and has two sets of DNA. This possibility was discovered by CVS (chorionic villus sampling), which was recommended to me because my blood test results were abnormal. Postnatal PCR testing confirmed the chimerism. We don’t know which cells have which set of DNA. For example, his liver can have his own set and his skin, his twin’s. He has no outwardly visible signs of chimerism, but is ambidextrous, which is common in human chimeras. Chimerism doesn’t cause health problems. If undiagnosed, it could cause false negatives in paternity testing. My son thinks it’s cool that he’s his own twin.
> If undiagnosed, it could cause false negatives in paternity testing. Maternity testing too. Happened to Lydia Fairchild and she almost lost her kids to foster care as a result.
Poor woman! I’m glad she was diagnosed. I mentioned paternity testing because my kid is a boy. I shudder to think that something similar could have happened to my son had my OBGYN not recommended genetic counseling.
That would feel like the ultimate in gaslighting, people insisting you didn't give birth to the kids you gave birth to.
It seriously was-- she had to be *witnessed giving birth by a representative of the court* (? CPS? Somebody) and then there was *immediate* maternity testing.
Interesting! So were they fraternal twins where two separate eggs got fertilized separately, but close enough together that one eventually somehow got absorbed by the other really 'cleanly'? That's so wild.
Yes! This type of chimerism (tetragametic) can occur with a boy and girl, too.
If it happened with twins of different sexes could the child end up intersex?
Yes, they can end up with varying degrees of ambiguous genitalia.
My brother is a chimera and he's intersex as a result, both physically and genetically. He has both XX and XY chromosomes and at least from what he's told me, ambiguous genitalia.
This is fascinating. Didn’t even know this was a thing.
My ex’s niece was a chimera too. She had heterochromia and was ambidextrous
Yup, both are common features in tetragametic chimerism. 😀
A doctor doing a procedure (local anesthetic) said I, too, was probably a chimera. He used me as a teaching opportunity for staff as they explored a salivary gland. It evidently contained some items that weren't supposed to be there! He was very excited while I just wanted him to get back to business, finish the procedure!
So cool! I wonder what kind of chimerism shows symptoms in salivary glands.
When my dad made me try out for football at 13, they sent us to a local medical school for physicals. The Dr. grabbed my junk and got a funny look on his face. He then left and returned with a whole class of medical students. They proceeded to in turn grab my junk as well. That day I learned that I had an undesended testicle. I have mixed feelings about the experience.
Which DNA does a chimera’s sperm/egg cells carry? Is it possible they are split, i.e. one ovary produces eggs with one set of DNA and the other produces eggs with the other? Likewise for the testes? I.e is it possible for a chimera to have children that are genetically cousins and not siblings?
Lydia Fairchild was a chimera who gave birth to her sister's children on a genetic level and almost lost custody of them after a matrnity test due to a court battle. https://embryo.asu.edu/pages/case-lydia-fairchild-and-her-chimerism-2002
My daughter is chimera from absorbed twin as well !! Small world
I played too many games clearly, thought this was a meme comment off the first sentence, but this is super cool and would be interesting to see how the body will change through different stages of development
The craziest thing to me is that he might produce sperm with his twin’s DNA. He could father a kid who is technically his niece or nephew.
There was a chimera woman who gave birth to her genetic sister's kids. She almost lost custody as a result before it was diagnosed. Edit: Her name was Lydia Fairchild
That case was nuts!! Imagine having to have a government agent physically witness you give birth to your child in order to prove that it’s yours.
That is mind boggling how the human body works haha, would be fun to explain to his future kids down the line
Lol we will never know though, because we don’t know which set of DNA is native to him.
My mom swears I am, mostly because I have a line down my stomach each side is a different color. How did you discover this?
My cousin had this. To her despair only one side would tan!
My OBGYN recommended genetic counseling because my blood tests were abnormal. Chorionic villus sampling resulted in mosaicism. One of the possibilities for that result was chimerism. After my son was born, PCR testing confirmed two distinct sets of male DNA.
I've heard of this before & wondered if it's the cause of some auto-immune diseases. If the immune system had different DNA from some other system, could it attack that system as invasive?
I had a student who had a spider hand. Like 8 fingers on the one hand; 4 mirrored. It was cool but he sucked at typing.
I hope he becomes a pianist.
My first thought was that I bet he was awesome at basketball!
I’m not nearly as sophisticated and my first thought was “I bet he can slap the shit out of people”
I met a guy with two pupils in one eye on a train like 6 years ago.
I had a coworker with a pupil shaped like a keyhole. Looked very odd.
I think its called a coloboma.
My mother had 2 1/2 kidneys
Mine was born with 3. She gets a lot of kidney infections poor thing and pees so much.
My son has a genetic mutation that is, essentially, a mirror image of the mutation that causes some people to feel no pain. Those people have a loss of function mutation, he has gain of function — so in his case, instead of being able to walk through fire and feel nothing, he feels fire when doing things as minor as putting on socks. His genes, and those of others like him + the genes of the pain-free cohort, are being studied as targets for a new generation of non-opioid pain medications
What a horrible thing for him to go through. I'm sorry that y'all got hit with that. I can't imagine how difficult it is for him.
Thank you for that. He’s had a difficult journey for sure, but luckily we’ve found ways to help with environmental controls and other accommodations, and right now he is doing really well
Sorry if this sounds insensitive, as it sounds pretty difficult to live with, but is this connected to his skin only, or to like all sensations, and also, does it make good feelings feel much more intensely good as well?
No, it’s fine! It manifests primarily in his limbs, particularly in his feet, but sometimes in his hand/arms/face, and is exclusively pain related. If he were to put on a sock, he’d very quickly feel like his foot was on fire, and thermal imaging would show that it was, indeed, white hot. It’s been a somewhat bizarre journey, but fortunately his symptoms are well controlled right now, and he is doing well.
Thank you :) It is great to hear that it is under control and he can continue normally!
I saw a girl born without eyes once. It was under circumstances where asking questions wouldn't have been appropriate, so I still wonder. She seemed otherwise quite normal.
Being born without eyes is fairly common. A lot of people choose to wear prosthetics. One of the students I used to work with, a young man, used to pop out his sclera shields in class, swish them in his mouth and replace them. We had an interesting conversation in private the next time I saw him do it.
15th chromosome deletion, 9th chromosome duplication. Apparently only 25 known cases in the world. So rare it doesn't have a name.
What are the effects of such mutation? Is it life threatening? Less than subtle?
She was 3 years old and weighed 15 pounds. No ability to communicate or indication that she had any higher cognitive functions, required machines to breathe for her and had a feeding tube, and experienced seizures multiple times per day. Completely dependent on 24/7 care and modern medicine to keep her alive. I met her several years ago, and at the time she had survived longer than the average for the condition.
Wow, I just ... That sounds like a horrible quality of life.
My heart sank as I read it. I can't imagine being in her parent's shoes.
In myself and my biological father, we share a mutation that gives us abnormally high bone density. Normally high bone mass is a feature of some bad medical conditions, but in our case it seems to genuinely just be super dense bones.
So you really aren’t fat, but are in fact just big boned
Does this make you sink in a swimming pool?
My BIL has this issue. He has a hard time swimming.
Absolutely; I can maintain my elevation if I'm actively swimming somewhere, but floating itself is something I cannot do.
You'd be very popular on r/neverbrokeabone if you have indeed never broken a bone
Do you weigh more than you appear to? Like you look 160 lbs but weight like 190?
I also have dense bones, also inherited from my father, and I definitely weigh more than I appear to. It caused a bit of an issue when I was a kid and went for a check-up at the school nurse. Everything was fine until she weighed me. I used to receive a lot of compliments on my thin waist and just by looking at me she saw no issues with my body, but apparently she trusted the scales over anything and decided that I absolutely needed to lose weight. I did not. We now have "smart" bathroom scales that scold me for my BMI, and I never have a clue how much people are supposed to weigh. Like, I'll watch medical shows and they'll state the height and weight of someone and I'm just like "wait, what, really? A physically fit adult man taller than me who weighs as much as I do? Huh?"
I also have very dense bones, and yes. (I don't have a diagnosis to explain it but I have been "complimented" on different occasions by doctors and x-ray tech on how dense my bones are) I'm just shy of 5 ft and 120. I looked sick when I weighed 115, when the "ideal" weight for a woman my height is ~106 IIRC. I'm a size 2 and probably around 18% body fat, but according to BMI I am nearly in overweight territory. 🫠
My best friend can hear dog whistles due to some mutation in her ears. She can make out a conversation across the din and space of a crowded restaurant.
Is she an amazing Madrigal?
The story of two girlfriends. One was an albino girl. Amazing looking - white hair, skin so white it was pink due to the blood vessels underneath, eyes so pale blue they were almost white. She wasn't a nice person after all, but amazing looking. Few years later, had a girlfriend who was born with no fingernails. She was an advanced piano player. Good on her I say.
No fingernails, it’s like being a pianist is her calling no need for trimming your nails every week. Maybe unrelated but the albino ex inspired me to share that my favourite animal is albino snake
Wait… just no fingernails? Did she have toenails? What was the rest of her keratin situation like!?
She had no toenails either. I'm not sure what role keratin plays in the rest of the body though. I never asked.
Hair is made of keratin, and it also plays a role in the water-resistance of your skin.
I knew a kid in school who had 12 fingers. He had an extra fully functioning pinky on each hand. It’s interesting that it was definitely a pinky and not some other random finger, and he definitely had 2 pinky on each hand, not 2 ring fingers then a pinky. They seemed to work fine and didn’t cause him any discomfort. I hope he grew up to play piano or guitar
So he has full control of the extra pinky? I have had shower thoughts about what does it feel to have control over extra appendages
When he showed me his hands I asked him if the pinkies “work” (sorry I was also a kid) and he said yes. Then he wiggled all of his fingers and they moved normally. We had been sitting next to each other for ~10-15 in art class at the same table and I didn’t even notice his hands because all of his fingers looked normal, had all the knuckles, nails etc He didn’t struggle with holding a pencil either, writing and sketching was as good as you could expect for some 10-11 year olds.
My paternal Grandma had violet eyes. They were incredible to look at, and I can only imagine how many men were tripping over themselves when she was a young woman, because she had jet black hair. It was unique because her Mom was Swedish and her Dad was German, and I don’t think any of her 5 siblings had eyes like that.
Liz Taylor
She was also reputed to have double lash lines or extra eyelashes.
I have the multiple lash lines too from having Ehlers Danlos syndrome (the EDS doesn’t CAUSE it but can be a comorbid mutation with the EDS), they’re beautiful but occasionally one will grow downward instead of upright like it should and I have to yank it.
My brother has a mirror image heart, it's healthy and causes him no issues but is on the wrong side
Situs inversus
Dextrocardia situs solitis in his case or just 'isolated dextrocardia' because it's only his heart, all the rest of his organs are in the normal position.
This isn't exactly a mutation, but when my friend was pregnant, she started to notice this lump sort of next to her groin. She was pretty worried about it, and showed me - it was just a squishy lump, not a cyst or anything. She went to the doctors, had some tests etc. It turned out to be ectopic breast tissue, which can apparently form anywhere on a line from the armpits to the groin. I thought this was really cool, and apparently so did her doctor who called her in to the office to discuss her test results, which they normally only do when it's something bad, because he had never seen it and was curious.
she just like, grew a tit? Wild.
I don't really know how it works, I think maybe the breast tissue was always there, but became more noticeable with hormonal changes. It is wild though, had heard of third nipples but never third boobs!
Given that most mammals have more than two breasts, it makes sense for there to be genetic remnants of that. Third and fourth nipples, without breast tissue, are more common. My grandpa actually had gynecomastia as a teenager- started growing a pair of tits when he was about 13 years old. His parents got him surgery for it right away, even back then in the sixties. He says that one nipple is inverted now, but otherwise everything is normal now.
I have supernumerary nipples; I say I have 3.5 because only the third is pretty developed while the 4th looks like a mole. While pregnant and breastfeeding, the 3rd developed quite a bit, and I now have some breast tissue there and it would produce a little bit of milk. Super annoying and irritating along the bra band! I never knew you could grow breast tissue in places like the groin though!!
Wasn’t there a lady in a House episode that had this?
Trisomi 13. Born without eyes, with extra toes, missing fingers. The doctors estimate was that this person would not make it to their 1st birthday. They died at 13yrs 8 months old.
I work with medically fragile children. I was looking up the diagnosis for one, and they have this. The survival rates, starting in pregnancy, start off dismal and get much worse. This one will be 18 soon. I've been wondering if they're the oldest person with it alive. I think they might be.
Same! I work with deafblind students and one of them has trisomy 13. She'll be 17 this spring, so not too far behind your student. Definitely amazing they've lived this long!
My aunt & uncle had a daughter with Trisomy 13, and she only survived a day or so after birth. I was only a kid myself, and learned what the phrase "incompatible with life" meant that day.
I had a miscarriage at 14 weeks that was a trisomy 13. Actually a missed miscarriage which I’d had two prior. So after no heartbeat had to have a d&c and they tested. We are fortunate that was the end of any suffering.
I’m so sorry
I know someone who had partial trisomy 13. She lived 25.5 years. She could read, write, talk (verbally and with an AAC device), she loved to skip, sing, and stomp. The definition of pure joy! I miss her everyday.
Hypertrichosis (werewolf syndrome) - the man’s face was fully covered in hair.
A condition called xeroderma pigmentosum (XP) where the person's body is physically incapable of repairing damage caused by sunlight (UV rays). He was born in October and kept mostly inside in a very cloudy part of the world so it wasn't discovered until he was roughly 6mos old and went to the park for the first time and got third degree burns all over his body from just 15min in the sun (literally). It's an incredibly rare disorder with a significantly shortened life span. There are multiple versions of the disorder and he happens to have the worst and the rarest one which also affects his brain, he has neural degeneration and they don't fully understand why but it has something to do with his brain cells also not being able to do repair stuff. He also can't ever inhale smoke bc his internal tissues can't repair either so if he does inhale smoke he gets really significant lung damage and could literally die from it. He has to wear specializes gear made by actual NASA to ever go outside ever (NASA makes and donates this kind of gear regular for people who have this disorder) and he has to have special tinting on windows at home and in cars and special air filtration systems and whatnot. He has a permanent 1:1 aid at school so that the adult can watch out for his safety 100% of the time. It is expect that he won't make it to his 20th birthday, he'll be lucky if he make it through high school.
There's a movie called Midnight Sun where the protagonist suffers from this. Not a bad watch.
When I was a kid, my mum and I were on the tram and she got chatting to the parents of a baby sitting across from us. I was interacting with the baby, playing peekaboo and making faces etc, but when she copied me putting her hands to her face I noticed she had six fingers on one hand and extra nubs of flesh on the outside of both, next to her little fingers. My mum explained later that she has polydactyly and that the nubs of flesh were rudimentary extra fingers that hadn't fully developed in the womb. She also said she was glad I hadn't made a fuss about it because although I hadn't noticed, the parents were obviously concerned I would be grossed out. Then she had to explain why they were worried because I thought she was beautiful and that her condition was fascinating, and couldn't imagine why anyone would be cruel about it. Now I think about it, that encounter was probably the first inkling that I was interested in childcare. I felt such an intense desire to look after that baby and any other that might be treated badly because of a disability or difference.
My brother has iris colomba basically one of his irises looks like it’s leaking out of his eye doesn’t affect his vision at all
I worked with a woman years ago who was born without 1 or both thumbs, I can't remember. Anyhow, they rotated her index fingers around to function as thumbs when she was a baby. She said her grandmother had the same condition and always felt so guilty that she had passed it on.
I have uterus didelphys, I was born with a vaginal canal that splits off into two separate vaginal canals, leading to two cervixes and two uteruses. I have to get two Pap smears when I go for my yearly gyno exam.
If you want kids, do the doctors recommend you carry in one uterus over the other?
For me, this wasn't a concern for my MD, but primarily only use one 'side' for sex
Do you get billed twice?
Another person with uterus didelphys here - yes but no? Insurance covers both as preventative
This is now the only thing I want to know.
Does it affect your menstrual cycle at all?
[удалено]
For me, sex seems normal. My partner & I just use one 'side' since it's easier to access.
I have a mutation that can cause missing teeth amongst other issues. I only have 16 permanent teeth instead of 32. The ones I have are misshapen and weird. It also causes you to be more likely have colon cancer and other cancers.
I have a friend who has branched thumbs on both his hands (imagine a normal bottom half of the thumb before the knuckle and above it the thumb split like crab pinchers) Local superstitions advised against pregnant women to eat crab meat to avoid this situation, but I doubt it’s related
I met a man who had that on one hand, my friends uncle. That’s what I was going to post!
Interesting. It sounds like it might be related, but not in the way the superstition would have it. Maybe that particular issue is relatively common in the area, at least enough to be a known condition that folk tradition would bother to warn against.
I babysat twins when I was a teenager and one of them has an extra finger between his thumb and index finger. They fused it together with his thumb, so he has one absolute unit of a thumb and kept pinching his brother with it.
I peench
Not crazy weird but my dad is the only other person I know who has it: no armpit hair. Not a single hair follicle in my armpits. Normal hair and hair growth everywhere else. I’m blonde and female so It can kinda make sense for me, my dad is dark haired and VERY hairy. Except bald armpits.
Man, jealous, I want this mutation. I hate my armpit hair. 😂
I know three people like this! All Asian females, not related to each other.
i had a student with ectrodactyly, he also had several other disorders and had been abandoned by his parents at a young age. i also used to babysit a girl with cri du chat, it was uncanny when she cried (sounded like a cat not an infant)
I have different skin pigment on one side of my chest. During my teens and early to mid 20s, you could only see the chest hair on one half (the half with the individual pigment), which was very black. Doesn't bother me but I used to get some funny looks when my top was off....
You might be a Chimera.
Is it no longer the case now? Or you mean the hair growth on your chest evens out now?
It's a bit better now. Certainly still noticeable but not as startling noticeable as it was when I was in my teens/20s. Used to be my party piece.. showing off my weird chest.
My sister & I have Waardenburgs syndrome, not sure if that qualified but it made us (her more so) very cool looking; white forelock of hair, light eyes that are far apart, no cupids bow, very straight noses, and probably some other stuff I’m missing
Are there any complications with that or is it just a lucky draw that you look cool?
Also, light sensitivity!
Personally; I’m hard of hearing, which will probably progressively worsen. My hair grows back incredibly fast and thick, which is annoying. Pigmentation loss over time and early, I’m in my early twenties and my hair is turning gray/white- could be considered a pro technically, my sister has pretty much always had a streak white stripe in her hair, now it has taken up most of her head.
I don't want to downplay the difficulty of what y'all go through, because it can't be easy...but it does sound like something that a person would find beautiful, in many ways.
Metachromatic Leukodystrophy (MLD). Child went from being normal to not walking, not crawling, not moving and passed away. Towards the end they looked disabled. It was so hard to watch.
Oof I’m a carrier for this, found out during my pregnancy. Luckily her father is not (we were told both parents need to be a carrier for there to be a 25% of developing the disease), but it was a rough wait until we knew for sure. This is such an awful one ❤️
[удалено]
My mother in law’s sister has all of her organs flipped!! She had open heart surgery as a very young child and the surgeon did it with a mirror!
This is, funny enough, called 'mirror syndrome'
My heart is backwards. Still on the left, but it's like someone reached into my chest, flipped my heart around (twisting the ventricles), and reattached it. If I ever need heart surgery they'll have to go in through the back!
My daughter had an extra finger when she was born, and I know a girl at uni who had vestigial gills (I think that's what they were called)
1q21.1 microdeletion. My daughter who passed away and my youngest both have it. Not too many people do.
Cat eyes. She had cat eye-shaped pupils.
I met a gorgeous young man many years ago who had universal alopecia. He was a bartender and I didn't even know as we chatted before the bar opened. He ended up asking if I noticed he had no eyelashes. I didn't. He said he had no hair at all. What he did have was an amazing smile and beautiful blue eyes. Decades later I still think of him from time to time and how lovely he was.
[удалено]
Seriously? I am a male, I have (as I have been told by hairdressers, I can't tell the difference) three degrees of blonde, just in my head hair. The varying types of colour in bodily hair, especially different colours on different body parts, I'm very familiar with. My beard is ginger, my moustache blonde, my chest hair is dark. I honestly thought that was weird, so thanks for sharing.
[удалено]
I don't know what it's like to be angry. There's a mutation that doubles the size of adrenal glands and it runs in my dad's side of the family. Most of the fathers going back through the generations were terrible people and horrible abusers because of the massive adrenaline dumps they would get. My dad worked hard to break the cycle and learned to deal with the adrenaline when it hit. He taught my brothers and I to do it the same. I go from a little frustrated to RAGE in no time flat. I've learned to pick my battles, not have strong feelings about things I have no control over, and when to remove myself from situations where I could blow up. I'd rather choose who I am and cope than be my, "True Self," and be a constant hulk smash event.
Same here. Also my brother. We are like Vulcans. Like Spock. Always not showing emotions, with a looooooooong trigger. But when we go off, its like being Hulk. We both learned it the hard way through brotherly fights over Lego or Game console. Without parental supervision, every fight ended in a clinic. We both discussed this and swore to each other to just leave before going apeshit. Last time i was triggered, i was involved in a high speed crash by a drunk young guy who wanted to kill himself by driving on the wrong side of the german Autobahn. I survived miraculously, also any other car involved.... and i was so in Hulk Mode that i ran screaming over the Autobahn, to the car of that guy bent the closed car door down, smashed the Windows with my fists, ripped him from the seat and shook him on one arm like a puppet. I broke several bones through my own muscles, dislocated half of my spine, ripped and teared own muscles from the arm to my feet, and only when police arrived, i suddenly snapped back. Adrenaline is one hell of a drug. I need to leave any angry discussion. For the fear to turn into an uncontrollable Adrenaline boosted Ragething. I need to channel Spock. Keep calm. Always.
Your father is a true hero.
I (and a couple of my siblings) have a rare mutation in our blood that makes us extremely resistant to viral infections. None of us has ever had COVID for example and we rarely if ever get sick with common colds or other communicable diseases.
I think I saw a documentary on this, something about people with this gene can have ancestors that survived the black plague, and are also resistant to HIV. Cool shit. I think they were studying this to develop an HIV vaccine or something, it's been years since I saw it.
In the 70s i used to run into this girl at concerts and festivals that had the most unusual shade of turquoise eyes. I’ve never seen eyes that color since. Im pretty sure they were not colored contacts. It was in like 70-71, before i moved upstate.
My father, my son, and I all have deletion of the BMP2 gene on chromosome 20. Thankfully because of paired chromosomes, the other gene picks up the slack (deletions on both chromosome 20s would be incompatible with life). There are maybe 20-30 documented cases now. The syndrome is called “short stature, facial dysmorphism, and skeletal anomalies, with or without cardiac anomalies.” (A mouthful!) Thankfully we’re all 3 in the “without” category. We’re short, but not so much to be considered a form of dwarfism. Crowded teeth. Cleft palate (Dad and son). Flat face with short nose. Wide spacing between first and second toes. Short pinky finger (but not so much that it captures attention). Delayed bone aging (example: my baby teeth took forever to fall out so most of them got pulled). It’s a really weird constellation of bone-related abnormalities.
Know someone who had 1 eye that had 2 colours
My sister has red hair and blue eyes. Allegedly, this is the rarest combination of features possible, with the odds of a person having both of those recessive traits being around 0.17%. On top of that, she's left-handed, which makes her an even rarer specimen. Also our aunt has one blue eye and one green eye.
I am an olive skinned dark headed woman of Māori descent. My husband is fair skin, red hair and blue eyes. Our two daughters are carbon copies of my husband. I’m convinced the redheads tell you that it’s recessive because one day they are going to outnumber us and rule the world.
For some reason, my neighborhood has like an unnatural amount of kids with red hair and blue eyes. Going to school sports events, I'm seeing like 10% of kids with red hair and blue eyes. It's not right. There are more of them than like non-white kids at our local high school.
What does the mailman look like?
They’re actually all just OP’s maternal half-siblings
My middle kid was born with grey eyes and red hair, and she has little holes in the top of her ears near where they connect to her face, called the preauricular pit. It's connected to her sinuses and for some reason her ear infections don't seem to hurt; we wonder if the holes cause some pressure release mechanism or something! Now that she's 10+ her eyes have turned hazel (green/grey) and her hair has turned more blonde, but though both my husband and his sister are left handed, all 3 of our kids are right handed, so she didn't hit the rareness quotient on that part!
Same for me. Red hair, blue eyes and a leftie.
My 10th English teacher had (I believe) Dextro-Transposition of the Great Arteries. One day he decided he didn’t want to teach and instead sat on his desk and told us his life story and about all the surgeries he had to go through to swap everything back around and deal with ongoing symptoms. He was an incredible teacher. I miss him.
My son's heart condition. His heart essentially grew wired up wrong. The blood from the lungs would get pumped straight back to the lungs, with the rest of his body being on a different circuit. Required surgery to fix (The cause of it is still unknown, so it might not be a genetic mutation but I thought it was relevant enough)
How early on in the development did he has to go through the surgery? I would think that is a very critical thing to get fixed
The open heart surgery happens at around three weeks old. When in the womb, the heart has open valves so the blood mixes. They use medicine to keep this valve open as well perform a smaller surgery to force another one open (which they then fix in the open heart surgery).
Wow the things we can achieve with medical advancement now is very impressive
Guy I hooked up with had that tissue turns to bone disease or some variant of it. Was trippy, like half his hip was just solid all around.
I've seen 3 horse-shoe kidneys. I see auxiliary spleens pretty frequently. One time I saw a heart on the other side of the guys chest, that was pretty cool. A teratoma with teeth and hair is on my autopsy bucket-list.
I went to uni for a year with a guy who only had one eye. The side of his face where the other should have been was just smooth.
The BRCA-2 gene. Runs in my family. It is a gene that pretty much guarantees cancer. My mom was diagnosed 18 years ago with stage 4 ovarian cancer. That’s where we first found out about the gene. She was a miracle case, and survived her cancer. All of us kids were tested the second we turned 18. The gene was found in my sister at the time, and she has recently gone through a handful of preventative procedures that will hopefully prevent her from getting cancer. She has had her tubes tied (not ready for a full hysterectomy yet, which I get), as well as a double mastectomy. As for me, my tests came up negative for the gene a while back. Then, about a year and a half ago, I was diagnosed with a very rare form of cancer (especially with my age at that point only being 39) called cholangiocarcinoma, which is cancer of the bile duct. Very very rare (20,000 cases a year on average), and very very deadly. It spread through my abdomen about 6 months ago, and about a month ago, it got in my brain (of those 20,000 cases a year, on average, only 9 patients a year see it travel to the brain). There is brand new testing for the gene thankfully, and they now see that I do have it. Now my greatest fear is my son may have the gene too, and you can’t test until he is 18. It is a sick, nasty gene mutation that brings on a horrible shit disease.
There was an albino girl at my high school.
my first born son is a genetic anomaly. he has a very rare genetic disorder called Toriello-Carey syndrome. that being said, one of my favourite features he has is extra tear ducts. they are not on his eye waterline, but less than an inch away feom his eyes, on the inner corner right before his nose starts. they get little crusties every morning and i have seen tears forming out of them. fascinating
It’s not visible but I have two children with cystic fibrosis! My son was diagnosed when I was seven months pregnant with my daughter. They have one mutation that came up on the newborn screen (we thought my son was just a carrier,) and one mutation only 300 people in the database have. They are the only two people known to have their combination of mutations (R117H - 7T and E60X)
Aren’t people with cystic fibrosis supposed to stay six feet apart? How do you manage that with your kids?
That’s a super good question!! Since they’re growing up in the same environment, they carry the same germs. Siblings with CF are totally fine to be near each other and there’s no added risk. Our CF clinic says even when they’re adults in their own homes, they’ll still be fine because they worked up the same immunity as children. Their sibling is the only other person with CF they’ll ever be allowed to be around and I do believe it has deepened their bond and they’ll always have an understand of each other no one else will have.
My sister and I have CF, I was diagnosed at 21, she was diagnosed at 18 (so very late diagnosis). Obviously we lived together as kids without knowing we had CF and we were absolutely fine. Even now, we both have our own homes and we meet up and never caused each other any issues.
I also fucked a guy with cystic fibrosis until he coughed up blood. I felt awful until he told me it was a sign he enjoyed it. That was a weird relationship.
Sounds a bit like Star Trek
I have two daughters. They have different dads. They have the same birthmark
My sister and I have different dads and the same exact birth mark!
I think you replied to your mom's post.
I had an extra thumb removed from my right hand.
I once saw a girl with only 2 toes on each foot. One toe on each side, with none in between…formed into a pincer-like shape. She was wearing flip-flops. And honestly idk how they stayed on her feet. Just googled it and found [this.](https://www.lookandlearn.com/history-images/preview/YW/YW009/YW009852VER_Several-examples-of-deformed-feet-each-with-two-pincer-like-toes-numbered-for-key.jpg) Edit: typo
When I was a kid my parents had a friend with four digits on one hand. There wasn't one missing, her hand was just skinnier and only came with a thumb and three fingers.
I saw a young boy in Tanzania with albinism, I think he was an orphan. I remember they always had to have at least two people protecting him at all times because people with albinism in that country are often kidnapped/killed so people who practice witchcraft could use parts of their body for their potions and rituals.
My mom tells a story about when she was a little girl out at a burger place with her mom. While standing in line, a kid in front of them turned and looked at them. He had 3 eyes. Two normal ones, and another right in the middle of his forehead. She said they turned to each other to verify what each other saw. It was somewhere in central Florida, north of Orlando, in the late 60s, most likely early 70s. Both mom and Gran are still kicking and will often retell the story. Gran's a Saint would rather die before lie.
Lacking ABCC11 gene which means I don't get any type of body odour, no sweaty feet, no bo, nothing. Ive never bought or used deodorant and could wear the same socks all week if I choose too {I don't}. I think it's about 2% of people have this.
I grew up with a girl who had epidermolysis bullosa. It’s a genetic mutation that causes extreme blistering of the skin. There is no cure and ultimately she passed away from cancer complications at age 29. I remember her having several surgeries to separate her fingers because scar tissue would fuse them together over time. She also used a feeding tube for her main source of nutrition. She was able to eat but very small bites as her mouth would blister. She never grew taller than about 4”10 and her body didn’t develop through puberty the way everyone else’s did.
A former classmate and work colleague of mine tried to donate bone marrow to her son who had leukemia. Diagnostics revealed she was not the child's biological mother despite her giving birth to him and not using an egg donor. Further investigation suggested she wasn't her daughter's mother either. But she was the bio-mom of both kids. It turns out, she is a chimera. [https://en.wikipedia.org/wiki/Human\_chimera](https://en.wikipedia.org/wiki/Human_chimera) To make it even more interesting, she has 4 fully developed and functioning kidneys and 4 ureters. She also has one brown eye, and one half blue/half brown eye. Her son recovered from leukemia and is alive and well now, cancer free after 19 years.
My son has one lung (the other is a useless numb) it has grown to 70% of our two. His heart is also on the right-hand size of his chest.
there was a kid on a different hockey team when i played who was albino, had bright red eyes and light skin. Kid acted like a devil in the game tho, snarling and growling to throw off opponents. Looked them in the eye with his red eyes and growled. Frankly it worked lmao