#Rare condition
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unbfacts · 4 months ago
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A woman gave birth to three children whose DNA didn’t match her own. After being monitored during delivery, she was accused of fraud, until doctors found that she had two complete sets of DNA due to chimerism.
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like-this-post-if-you · 1 year ago
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Like this post if you have a rare condition
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2022dirt · 7 months ago
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Cats with Polydactyly.
Polydactyly is a condition in animals that results in extra fingers or toes. In addition to animals, this can happen to humans as well.
This is caused by a dominant gene mutation that is inherited from a parent. The gene associated with polydactyly is called Sonic Hedgehog, the same gene associated with this mutation in other animals, including humans.
A cat only needs one copy of the gene from either parent to have the trait, so if one parent has extra toes, 50% of their kittens will likely have it too. 
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floralfairie · 9 days ago
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Alright folks. Time for the daily dose of diary entry-like posts. And uhhh personal thoughts.
Also I will be mentioning the fatty and mammalian things common on a persons chest sooooo yeah.
So… I have this rare condition called Poland Syndrome. Basically it means that one side of my body doesn’t have certain upper body muscles/tissue, or undeveloped muscles. This can also affect the rib cage and other bones, and it is also common to affect a persons arm or hand as well. Pec muscles are typically absent or severely undeveloped, on one side. For some people, it is barely noticeable, and despite having a little weakness on one side, they can live pretty normal lives. Others are more severely affected, in which hands can be missing fingers, or have missing joints, muscles, webbed fingers, a smaller hand, and usually missing or smaller breasts or pecs on one side of the body.
While yes, it DOES count as a disability, many with my condition often feel slightly disconnected from other disabled people because we don’t “have it as bad” as imposter syndrome takes over, or that we could “fix” the “problem” with cosmetic surgery (thats only true in SOME cases for functionality’s sake… some MIGJT choose cosmetic surgery and treatment for personal reasons but it IS NOT covered my insurance even if severely debilitating mental health wise,AND it is so rare that most doctors don’t even know what Poland Syndrome IS.) some even CHOOSE to make their kids remove fingers they could otherwise use as they get older simply for cosmetic purposes because they’re afraid of the social stigma they could face as they get older. (Imo unless its for functionality, please don’t do surgical procedures on your kids, especially young ones, okay?)
Okay, now that THATS out of the way.
I have had PS my whole life, obviously. My hand on one side is severely affected, and I have limited mobility, but I still use it to some degree. But my main concern today is boobs.
Why? Well, because mine are two different sizes! You read that correctly! One is a C cup, and the other is smaller than an A cup. That one is the affected side.
I once heard the idea that Ps was an intersex condition, but had mixed feelings about it bc simply having boobs doesn’t INHERENTLY make them sexual. But, I also relate a LOT to what many intersex people experience in terms of this strange feeling of disconnect from your body sometimes, or that your body is one thing, your mind is fully another. I understand dysphoria to a certain extent BECAUSE I have experienced it. I DO experience it whenever I see each half of me in the mirror. The side of me that looks feminine and curvy , and the side of me thats flat chested and.. well, not. And I wonder, who am I really? What does my body MEAN?
I don’t really fit in any community, really, I am this floating being flying around facing disconnect whenever I see myself. I think, I am not beautiful enough. But then I am glad that I have practically no boob on one side because it’s easier to sleep on my stomach! And less sweat there.
I look good when I see myself dressed in ways I wouldn’t normally but would never go out in public that way. I am NOT an assertive and cheeky rogue who has stolen a strangers costume, but oh how I wish someday I could play the role.
I don’t know where to talk about this because frankly there are not many online spaces for people with PS. And its so rare that… well, there are not too many of us. I want to know if they ask the same questions. Do other women with PS ask the same questions?
I don’t want cosmetic surgery because I y my uneven chest is part of who I am. Plus, insurance would not cover it. Even if it’s what is causing my back pain.
I wonder how many people have looked at me and felt creeped out? Have pitied me? Have wanted to look away, rather than approach? Do they not see that when they shy away, it only makes me want to, too?
How obvious is my uneven chest? Can others tell?
When will a lover see me and walk away? Or laugh? Or be horrified? Why should I feel the need to disclose such personal information to someone, to anyone, even prior to intimacy simply to give them the chance to back out in case my condition is something they cannot handle? It is tiring. I just want to be seen and loved without the expectation of being rejected because of how I look. And then I get told I shouldn’t be so picky because I am lucky to get anyone and its like… uhhh no, everyone has a right to have standards.
I can be absolutely gorgeous and sexy when I want to be. But there is always that fear. When is someone going to notice my secret?
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the-firefly-jar-system · 2 months ago
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realized there’s literally like. 7 case reports *ever* on our genetic condition (i think that’s the right term for it- it’s not a super super rare condition usually, but it is *incredibly* rare for it to be genetic/familial)
i sorta wanna ask our doctor… (one of them?)… if there’s any reason that the case of my mom and i should be officially reported, and if so, how that happens. idk why to me it feels wrong(?) somehow to not officially report our case if if hasn’t been already
okay i need to stop trying to find any more reports on it bc 1) they actually just don’t exist and 2) i’m starting to get a bit ahhh bc i keep reading these things even though they’re chock full of triggering things! and i am ignoring my physical and emotional reactions so let’s stop before it gets worse!!
anyway uh i think the universe should stop giving us rare disorders and conditions. we’ve had enough thanks!
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roguekhajiit · 3 months ago
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Allow me to clear some stuff up from the series of reblogs below this one.
Another Tumblr user decided to use an old post of mine speaking from a clearly American issue about American jobs to soapbox from a global perspective.
All their complaints could be solved if they just asked for help, something they never actually mentioned doing. When I pointed this out, I was accused of being an ablest.
They kept caps yelling at me to JUST LISTEN TO DISABLED PEOPLE. But isn't that ironic? To yell that at someone and just assume you're the only one struggling with a disability? Your lived experiences with a disability are the only ones that matter? Invisible disabilities don't exist? Anyone who doesn't immediately agree with you is an ableist?
So, allow me a moment to speak about my own disability. I don't speak about it often, but I will on this post.
As a regular, everyday American, I don't have the ability to travel the world and live in different countries while being disabled and have family helping me through life. I think that part gets overlooked on the global scale. The average American isn't flying into France for breakfast and then Italy for dinner. We are working two, sometimes 3 jobs just to make rent and afford groceries. We don't have the time to visit 3 countries in one day when we can barely find the time to sleep.
I have to choose between working and paying for groceries to feed my kid or going to the doctor and getting the tests I need to check that my condition isn't worsening.
You see, I'm one of those lucky people who won the rare condition jackpot. I have Idiopathic Intracranial Hypertension. Take the time to Google it. It's OK. My own primary doctor had to Google it, too.
I live with constant pain in my head 24/7. It's migraines on steroids, with the added bonus that I'm playing Russian roulette with my eyesight; one day, I could just wake up and be blind, or half blind. Who knows. Thankfully, my particular flavor of IIH seems to be affecting my hearing more than my vision.
But because I was born in America and because people value cheap gas and eggs over affordable healthcare, I have to choose between paying rent and going to the doctor.
"Listen to disabled people." OK. But have you also tried listening to them back? Or do you just scream and throw a tantrum whenever people don't immediately throw themselves at you without you having to ask?
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cryptcatz · 2 years ago
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having a rare condition (Charcot-Marie-Tooth, in my case) is seriously so awful. it’s so hard to find peers who understand. i often relate to discussions/etc. related to other similar conditions but it would be inappropriate for me to partake. usually the people i do find with my condition are far older and didn’t experience symptoms until late adulthood (vs me being born in pain) so i can’t particularly relate to them. AND the subtype i have of my rare condition (4C) is rare like wtf 😭 even most doctors have no clue what it is!!
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lifblogs · 7 months ago
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Anyone else out here with erythromelalgia?
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magpieblr · 2 years ago
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(by Martin Baldwin on Flickr)
Here is a common eurasian magpie with Ieucism! Ieucism is a less severe form of albinism, which means this magpie has partial loss of all pigmentation. This magpie should really be black, blue, and white - but instead due to this phenomena it is brown and white! Only ONE in SIX MILLION (0.000016~%) eurasian magpies have this condition, so this was a very rare photo!
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harmoniousworld · 2 years ago
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Even though I say I’m having “difficulty breathing”, it doesn’t mean that I’m going to appear the same way as if someone were having a heart attack.
I wanted to make this blog post because there seems to be a lack of awareness on this topic.  The other day, I saw a new doctor on Telehealth. I told her I was having issues breathing and that I preferred to write in the chat log (if there was one).  She said there was no chat log, and I said that I will hang on as long as I can speak.  She did urge me to call 911 if I needed to, but she was pretty hasty, rolling her eyes pretty much the entire time, with an attitude (before I even told her I was having difficulty breathing).   I won’t be seeing her again.  In her notes, she didn’t dismiss that I was ill, but she did write down that I claimed to be having some breathing distress but that I was “talking fine, talking in full sentences / paragraphs, and not in any breathing distress”.  She put something like, “patient claims she’s breathless and can’t talk, yet she continues to talk very fast and is not actually having any issues breathing.” I wanted to put this out here, loud and clear!!  Just because someone is feeling distress upon breathing and while verbally speaking does NOT necessarily mean this person can’t talk “at all”, and it doesn’t mean that this person isn’t suffering to the max when he/she speaks.  There are MULTIPLE manifestations / types of “breathlessness”.  That is an ambiguous word.  That is why I used the phrase “difficulty breathing” earlier on. No matter the semantics you choose to use, the universal message should be clear: that if we tell you we are in distress verbally speaking, WE ARE.   NOT all shortness of breath presents the same.  Of course I was not having a heart attack.  I know what THAT type of “short of breath” is like.  That is a breathing for me that was very fast, with frequent deep gasps, with the worst distress and inability to catch my breath whatsoever.   For my usual daily symptoms, though, my “difficulty breathing” is much different than that!!  I guess even doctors aren’t familiar with “this type” of “difficulty breathing”.  Again, having “difficulty breathing” could mean a variety of things!!   Well, she did technically tell me she was not a doctor but rather a nurse practitioner.  (I even had a NP who didn’t know what dysautonomia was recently, so I can’t hold them too accountable here. But, they should open their minds a little.) Even when I’m not speaking, I have labored breathing.  It’s not the same type as when you have to labor your breathing when you’re in an SVT attack; I get that way too.  That’s much different. When I have labored breathing, I have to manually focus on each breath.  My chest is also VERY tight, and my airways are not that elastic to begin with.  My lungs are always tight and compressed.  I also have apnea both while awake and asleep... and not the obstructive type but the central type where the brain doesn’t even send the message to breathe.  I don’t have apnea all day long.  That part does come in waves.  Some days it’s very severe and breathing isn’t automatic.  At that point I have to focus very hard, and when I speak and my brain is going fast, it becomes almost impossible for me to breathe enough.  I will talk until I get faint and then it jolts me to breath.  But on the moments/days that the apnea is not severe, I still have many other respiratory issues that are exacerbated while speaking verbally. There are moments I can’t speak at all, and there are moments I can speak with just a little distress (which always worsens as I go).  My FEV1 is EXTREMELY low, which is the forced air output. My lungs are also hyperinflated, as seen on chest x-rays. I was also diagnosed with COPD on top of astham and the low FEV1.   When I speak, I am VERY lightheaded / faint.  I get more and more near-syncope as I speak.  My airways get tighter because of their lack of elasticity. I did have nodules on my vocal cords years ago.  I also felt a pop in my airway back in 2010 when this all started with my airways. I did have breathing difficulty since I was a child with exertion.  I see phosphenes (stars) when I speak.  I start to gasp for air.  I take breaks at certain times. I may talk for 4 minutes straight and then suddenly stop talking fully. I may start doing very deep breathing which can sound like I’m sighing... I assure you I never sigh.  It is me deep breathing.  And people don’t even notice the deep breathing.  If you see me in a video, though, you’d see how much distress I’m actually in if I were to highlight the exact moments that I’m holding my chest, breathing oddly, etc.  I start to sum up my answers, EVEN IF I am still talking “a lot”!  This is because I know the convo could go on for a while and I want to answer as much as possible even if I have to sum things up here and there.  For anyone who knows me, they will know I’m an EXTREMELY DESCRIPTIVE person.  That’s just the way I am.  I’m not a person of a few words; I’m a person of many words.  I love to talk.  I was always extremely talkative.   Talking on the phone / video urges me to speak louder, and any time I speak loud, it makes me more breathless.  I also used to be a singer and now I cannot sing much.  That should be full proof right there.  I went from being able to belt out a tune, even though I was always lightheaded to some degree doing so, to being able to hardly finish one stanza while only sitting down.  Now my FEV1 is so low that I can hardly get a few lines of singing out at one time... and I can’t sign with much force for long.  I can maybe sing with significant force for ~2 seconds max. I also can still scream / yell, but only for 2 seconds, and then i’m left suffering greatly afterwards.  After every vocal interaction, I’m suffering SO much.  It actually makes me worse because then I can’t go and exert after speaking.  After talking to someone, it usually takes about 45 min for me to reset and then I can go into a wheelchair or use the bathroom, etc.  People have NO idea how distressing this is.  I would love nothing more than to use sign language or another method, but people do NOT see this as a “real problem” because it’s so rare.  If I were deaf, yeah, sure people will use sign language.  Funny thing is I can hardly hear... I lip read mostly now... and when people turn their backs and I can’t hear them, I have to ask “what” repeatedly.  And it’s not even an issue with volume... I can hear volume fine, so hearing aides won’t help.  It’s a problem hearing clarity, as I have extremely loud tinnitus going on at all times, involving knocking sounds, rumbling, and 8+ pitches of tones, some pulsing.  I also have tensor tempani and tons of ear pressure.  So believe me, I would love to use sign language, but because I’m not “deaf” no one would accommodate that.  And here I will sit, suffering, for the rest of my life!!!!  I also would like to write things down.  Sometimes I do. Some people will not entertain that, because they can see I can still speak. But what they don’t see is how much worse it makes me, how bad I feel during it and after it, and how I can’t do anything for so long after speaking.  It would give me so much freedom to be able to use sign language or write things down.   Just because I can verbally speak does not mean it’s not torturing me.  MY LUNGS FEEL LIKE BRICKS to lift with each breath, and when I speak, I have to lift so much more.  It feels like 100 pounds.  And it exhausts me.  My heart rate goes up.  My heart also becomes inadequate and doesn’t beat right after talking for several minutes or even after exerting at all.  I burn so many calories from just TRYING to speak, due to my heart rate going up.  I get so exhausted just talking a little bit.  I can’t afford to speak but I do it anyway because I’m stuck in a world that only caters to visible disabilities.  If you have an invisible disability, forget it.  You’ll always be seen as meek, weak, and a wuss to outsiders.  I’m so spent and wrung out from all this explaining.  I don’t owe anyone an explanation, but here I am making myself all stressed out because an uninformed, narrow-minded nurse would rather assume than look at my past history or ask me in writing on a message. 
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be-kind-to-all-kind · 2 years ago
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What's the most unusual effect of EDs (ehlers-danlos syndrome) you have that's not as known?
Despite it being a rare condition and practically unknown by the general population, as time passes, people (and we all, and doctors I guess) are learning more about it, people who know about it know about the flexibility (of the hypermobile kind, hEDs) and joint problems and chronic fatigue and such, but there's still ones that are less familiar, I think, and that I don't even see other zebras mention, such as grey hair.
So I'm starting a thread; fellow zebras, what's the less-than-obvious, lesser-known manifestations that you experience?
I'll start:
Teeth randomly snapping in half
It happened at least once and I was eating something soft!
grey hair!
I've had it since my (early?) 20s, though it's mostly white but now it's more peppery (because I was blonde until a point in childhood then it went dark brown so some hairs go straight to white due to the blonde start hair colour and some go grey due to the brown change later which is interesting considering I still look like a teenager, which is also another effect of it also with the smooth wrinkle-free skin, but as long as I still get carded, I'm good xP
reddit post about others who have this too
What about you?(:
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emperornorton47 · 2 years ago
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Ella Harper, aka Camel Girl, was born with a rare condition that caused her knees to bend backward. Because of this condition, she had to walk on all fours, earning her the nickname “Camel Girl.” Though it was difficult at first, she made a fortune out of it. She earned a weekly wage of $200 in 1886
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zuuriell · 1 year ago
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this ‼️ + shoutout to those with acromegaly!! my mum has it and its so disappointing that theres not much research out there and barely any awareness :(
shout out to people who have never and will never meet someone else with their condition
shout out to people with disorders that are classified as "too rare to care" and therefore get no research or funding
shout out to people who are the only person alive with their condition
shout out to people with disorders that are near impossible to find information about
shout out to people who feel lonely in having their disorder
shout out to people who have to educate doctors on what their disorder is and what it causes
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xxforeverxx · 2 months ago
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Hey, so I haven’t talked about this in a while but for my Marfan peeps out there! My mom had Marfan Syndrome, undiagnosed because what was that in the 50s. She died because of the heart problems with Marfans before the age of 60. Doctor said that was a long lifespan for someone with the condition 🤦🏽‍♀️ I’ll probably die young too and that’s ok.
A few years ago, I got an echocardiogram done after finally finding a doctor that knew what Marfans was ! I don’t have the heart conditions my mother had but they never fully diagnosed me with Marfans.
I’m just out here being super skinny, unable to gain weight, looking like a teenager in my 30s. Women jealous, I blame it on genetics instead of explaining the long sad story. 🤷🏻‍♀️
Just wanted to share that some of us are out here.
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liones-s · 9 months ago
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a big lesson for me was learning that most things are not as fragile as I’d believed. missing a class, or turning in a bad assignment, won’t instantly destroy your professor’s opinion of you. accidentally saying something harsh won’t make your friend want to end the friendship. it takes work to repair these things - it takes effort and research and sometimes a sincere apology - but you can do that because they’re not irreparably broken. what you’ve worked to build, in academia and in relationships and in life, is stronger and more enduring that your mind may teach you to believe. don’t let imagined fragility lead you to giving up
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brawley1492 · 3 months ago
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ACROMEGALY
Rare condition!
Excessive production of growth hormone by the pituitary gland
Causes enlarged bones in face, hands and feet
Can be dangerous or life threatening if untreated
Treatment can manage condition, but not be a cure
Can last a lifetime ... medical facts
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