#Rare condition

[unbfacts]

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.

[like-this-post-if-you]

Like this post if you have a rare condition

[2022dirt]

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. 

[cryptcatz]

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!!

[lifblogs]

Anyone else out here with erythromelalgia?

[bifflesnitch]

Ever since I was at least 5 years old I can remember seeing thousands of tiny, multicoloured dots flying around my vision like TV static. They are much more noticable in the dark and when I blink or close my eyes.

There's aso always been a ring of more prominent redish dots in the centre of my vision that moved with my eyes.

When I was little I thought I was seeing molecules in the air after learning about them on an episode of Magic School Bus.

***

Turns out there is actually a name for this phenomenon:

CEV - Closed Eye Visualisations

https://en.m.wikipedia.org/wiki/Closed-eye_hallucination

Althout apparently that is only supposed to be seen when you're concentration and dissapear when you're not but mine is just alwasy there so it could also be

VSS - Visual Snow Syndrome

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

The little dots are called phosphenes and theres been some really interesting research done on them and the different causes for them http://www.oubliette.org.uk/Three.html

***

Whatever it is, its harmless and we don't fully know why some people have it more than others but it's nice to know I'm not the only one. I actually found a quora thread with a bunch of people talking about there experiences with it.

https://www.quora.com/What-causes-us-to-see-tiny-coloured-dots-in-darkness-For-example-if-you-are-in-a-dark-room-you-don%E2%80%99t-just-see-pitch-black-but-thousands-of-tiny-dots

So yeah. The more you know.

[magpieblr]

(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!

[harmoniousworld]

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. 

[be-kind-to-all-kind]

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?(:

[emperornorton47]

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

[zuuriell]

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

[liones-s]

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

[daisywords]

One of my biggest nitpicks in fiction concerns the feeding of babies. Mothers dying during/shortly after childbirth or the baby being separated form the mother shortly after birth is pretty common in fiction. It is/was also common enough in real life, which is why I think a lot of writers/readers don't think too hard about this. however. Historically, the only reason the vast majority of babies survived being separated from their mother was because there was at least one other woman around to breastfeed them. Before modern formula, yes, people did use other substitutes, but they were rarely, if ever, nutritionally sufficient.

Newborns can't eat adult food. They can't really survive on animal milk. If your story takes place in a world before/without formula, a baby separated from its mother is going to either be nursed by someone else, or starve.

It doesn't have to be a huge plot point, but idk at least don't explicitly describe the situation as excluding the possibility of a wetnurse. "The father or the great grandmother or the neighbor man or the older sibling took and raised the baby completely alone in a cave for a year." Nope. That baby is dead I'm sorry. "The baby was kidnapped shortly after birth by a wizard and hidden away in a secret tower" um quick question was the wizard lactating? "The mother refused to see or touch her child after birth so the baby was left to the care of the ailing grandfather" the grandfather who made the necessary arrangements with women in the neighborhood, right? right? OR THAT GREAT OFFENDER "A newborn baby was left on the doorstep and they brought it in and took care of it no issues" What Are You Going to Feed That Baby. Hello?

Like. It's not impossible, but arrangements are going to have to be made. There are some logistics.

[inkskinned]

the thing about art is that it was always supposed to be about us, about the human-ness of us, the impossible and beautiful reality that we (for centuries) have stood still, transfixed by music. that we can close our eyes and cry about the same book passage; the events of which aren't real and never happened. theatre in shakespeare's time was as real as it is now; we all laugh at the same cue (pursued by bear), separated hundreds of years apart.

three years ago my housemates were jamming outdoors, just messing around with their instruments, mostly just making noise. our neighbors - shy, cautious, a little sheepish - sat down and started playing. i don't really know how it happened; i was somehow in charge of dancing, barefoot and laughing - but i looked up, and our yard was full of people. kids stacked on the shoulders of parents. old couples holding hands. someone had brought sidewalk chalk; our front walk became a riot of color. someone ran in with a flute and played the most astounding solo i've ever heard in my life, upright and wiggling, skipping as she did so. she only paused because the violin player was kicking his heels up and she was laughing too hard to continue.

two weeks ago my friend and i met in the basement of her apartment complex so she could work out a piece of choreography. we have a language barrier - i'm not as good at ASL as i'd like to be (i'm still learning!) so we communicate mostly through the notes app and this strange secret language of dancers - we have the same movement vocabulary. the two of us cracking jokes at each other, giggling. there were kids in the basement too, who had been playing soccer until we took up the far corner of the room. one by one they made their slow way over like feral cats - they laid down, belly-flat against the floor, just watching. my friend and i were not in tutus - we were in slouchy shirts and leggings and socks. nothing fancy. but when i asked the kids would you like to dance too? they were immediately on their feet and spinning. i love when people dance with abandon, the wild and leggy fervor of childhood. i think it is gorgeous.

their adults showed up eventually, and a few of them said hey, let's not bother the nice ladies. but they weren't bothering us, they were just having fun - so. a few of the adults started dancing awkwardly along, and then most of the adults. someone brought down a better sound system. someone opened a watermelon and started handing out slices. it was 8 PM on a tuesday and nothing about that day was particularly special; we might as well party.

one time i hosted a free "paint along party" and about 20 adults worked quietly while i taught them how to paint nessie. one time i taught community dance classes and so many people showed up we had to move the whole thing outside. we used chairs and coatracks to balance. one time i showed up to a random band playing in a random location, and the whole thing got packed so quickly we had to open every door and window in the place.

i don't think i can tell you how much people want to be making art and engaging with art. they want to, desperately. so many people would be stunning artists, but they are lied to and told from a very young age that art only matters if it is planned, purposeful, beautiful. that if you have an idea, you need to be able to express it perfectly. this is not true. you don't get only 1 chance to communicate. you can spend a lifetime trying to display exactly 1 thing you can never quite language. you can just express the "!!??!!!"-ing-ness of being alive; that is something none of us really have a full grasp on creating. and even when we can't make what we want - god, it feels fucking good to try. and even just enjoying other artists - art inherently rewards the act of participating.

i wasn't raised wealthy. whenever i make a post about art, someone inevitably says something along the lines of well some of us aren't that lucky. i am not lucky; i am dedicated. i have a chronic condition, my hands are constantly in pain. i am not neurotypical, nor was i raised safe. i worked 5-7 jobs while some of these memories happened. i chose art because it mattered to me more than anything on this fucking planet - i would work 80 hours a week just so i could afford to write in 3 of them.

and i am still telling you - if you are called to make art, you are called to the part of you that is human. you do not have to be good at it. you do not have to have enormous amounts of privilege. you can just... give yourself permission. you can just say i'm going to make something now and then - go out and make it. raquel it won't be good though that is okay, i don't make good things every time either. besides. who decides what good even is?

you weren't called to make something because you wanted it to be good, you were called to make something because it is a basic instinct. you were taught to judge its worth and over-value perfection. you are doing something impossible. a god's ability: from nothing springs creation.

a few months ago i found a piece of sidewalk chalk and started drawing. within an hour i had somehow collected a small classroom of young children. their adults often brought their own chalk. i looked up and about fifteen families had joined me from around the block. we drew scrangly unicorns and messed up flowers and one girl asked me to draw charizard. i am not good at drawing. i basically drew an orb with wings. you would have thought i drew her the mona lisa. she dragged her mother over and pointed and said look! look what she drew for me and, in the moment, i admit i flinched (sorry, i don't -). but the mother just grinned at me. he's beautiful. and then she sat down and started drawing.

someone took a picture of it. it was in the local newspaper. the summary underneath said joyful and spontaneous artwork from local artists springs up in public gallery. in the picture, a little girl covered in chalk dust has her head thrown back, delighted. laughing.

[lightpost]

I pray his voice remains in my memory as the days get louder and the pain takes over all I can get think about his is voice I have no choice it's my morphine to all my pain that night keeps saving my life something to lean on to that's real for me to me, feelings are real I can't deny what was felt and what I still feel and what I know and what's been happening he's the best part of my life, I got a vein that's seriously closed off I'm in new pain everyday and the old pain is just digging deeper pain constant everyday my foot to my heart to my head my chest and I'm told my er doctors to go home and commit suicide I'm told to stop seeking medical care for myself Im told to be in porn when I'm seeking medical care for myself how is a woman suppose to trust any doctor or go anywhere and feel like her health matters? Her voice goes unheard and ER doctor even did it with a nurse he rolled his eyes at her I saw it he shrugged and walked out the room she came to me and said you have to advocate for yourself cause obviously he's going to do nothing for you. she was on the phone with doctors in New York trying to figure out what is going on with me she spent 3 hours on the phone I believed her when she told me I have the nutcracker I feel it and it's in my scans it's on paper 3mm my normal is 10 to 34mm and still no help to this day so when I say a man's voice is seriously why I am here yeah I'm here for that. my right leg is popping my left leg is pressure my left side is pressure I'm lightheaded and tired.

I did three things today that will change my life in the next few months. I hope.

I need help

[tolusefrancis]

This video is subtitled in French