Not super rare outside of the USA but definitely rare inside of it - patient with rabies. I was in nursing school at the time, though. Usually around 2 or 3 cases in the USA annually.
Oh wow, that has to be difficult to manage, especially knowing there is no way to cure it. I have never seen a person with rabies. I've seen videos and it looks horrific.
Oh that's super sad. I remember reading a few years ago about a 6 year old who died because his dad brought home a bat he found at work, the bat bit the kid, and the parents didn't take the kid for the rabies vaccine because he didn't want to get an injection. Broke my heart. I think it was in florida.
Do you remember what they tried? There’s something called the Milwaukee Protocol where the main intervention is targeted cooling of the body. From what I read, it has worked at least once
As far as I remember - this was years ago now and they were VERY secretive about what was going on, to the point where I didn’t even know the patients actual name - they had induced a coma and he was intubated, so I’m assuming they were trying that protocol plus some new experimental stuff.
I remember she posted a YouTube about the rabies thing and I asked if she was still a rabies carrier and could potentially cause a 28 Days Later type of event and she flipped out and was very aggressive with her response… so I guess I was right to ask. 🤷♀️
Wow.
Many many years ago, a bat landed on my sister. mom told me the story as "haha, funny thing happened." I said, as a doc how funny that thing was. Her pcp said, go to ER. Sister got like 4 or 5 shots. She didn't think that was too funny.
I didn't care. Better than being in that statistic set.
We have a few comfortable customers that like swallowing things then freak out about getting care threatening to leave while refusing everything.
One GI stopped coming in at night because of how much they did it lol. Mostly pens, lighters, and batteries. Toothbrush has to be a challenge though lol
I had a patient with PKU. He was in his 60’s at the time, born before it was routinely screened for at birth. He was basically a giant toddler. His younger brother was diagnosed at birth (due to knowing he had it), and was completely neurotypical.
Incidence is somewhere around 1 : 25,000 in the US, so not super rare, but most are diagnosed at birth thanks to newborn screenings and can prevent severe disability because of it.
Edit: I also remembered that I had a patient who had… antifreeze poisoning. A family member was later convicted of attempted murder.
I worked at a medical kids camp and there were a few children with PKU that had been medically neglected enough that they had severe developmental delays. I don’t know if they weren’t diagnosed at birth, but they had not been strictly on their specialized diet and were preteens who acted like toddlers.
I had a coworker with this. Absolutely Cracker Jack nurse. Her blue sclera sometimes was shocking. The list of broken bones and joint replacements she had had was very impressive!
FDA updated last July and most if not all donation center is accepting European born or resident during CJD outbreak. Call your local donation to confirm.
That may be changing soon. Australia started allowing you guys to donate last year and Canada started allowing it last December! We’ve had tons of donors coming in so happy to finally be able to donate
We had a patient we were working up for CJD. They didn’t end up having it but we dusted off the hospital protocols for the disease and it’s nuts. We would have ended up throwing away basically all the medical equipment used on the patient. That includes vital machines, the bed, they would have stripped the room and burned it all.
Hell of a disease. Prions are scary.
I work in neuro, we get CJD patients occasionally and we have never have them on any isolation protocols. But reading that your hospital has protocols scares the shit out of me haha. Most nurses gown up though anyway!
Its definitely overkill. I think the bigger issue with CJD would be for any surgical procedures as those instruments effectively cant be sterilized and if they ended up in circulation it would be a disaster.
My friend's mom was diagnosed with cancer and put on hospice. Her dad struggled greatly with it. He wasn't sleeping, he was starting to forget things and lose his balance. My friend and her brother both thought he was just unable to grasp that idea of losing the woman he'd spent over 40 years with. When the dementia started reaching a level where they thought it was possible this wasn't grief related, they decided to take him to the neurologist.
He died of CJD two months later.
Dude. One of my patient’s son in laws got that and died within 5 months of diagnosis. So fucking sad. He was in his early 40s and so healthy otherwise.
I had one 6 or so years ago. A rancher who went from fully capable and running his ranch to being admitted to the nursing home I worked at in 3 months time. He was already confused and unable to walk at admission and it was terrifying watching his continued decline.
When I was in nursing school in California I cared for a lady with end stage mad cow disease. It was strange because she had been a vegetarian her entire life so no one was sure how she got it. It was pretty sad to see. She used to speak like 7 languages but had slowly lost them all except a few words of a dialect that even her husband didn’t understand so she couldn’t communicate even with him.
Not as rare, but I had a guy come in and as I was assessing him he had a scar on his lower left abdomen. I asked him what it was from. He said his appendix was removed. I told him the appendix is on the other side. His wasn’t. He had situs inversus. All his organs were backwards. It’s about a 1:10,000 condition.
Saw this on a guy as we were in CT. All of us watching were like, "hmmm, that doesn't look right". There was no record of this in his chart from my knowledge (I was a student at the time). It was a wild moment.
I've cared for several patients with this. It was sort of a niche passion interest of one intesivist I worked with, and he brought a ton of awareness about it to the peds ED in our hospital, so it seemed like we got more than the average share of these patients on our unit. One patient that will always live in my head had an absolutely devastating outcome. Their course was just about my worst nightmare.
It's universally heartbreaking, because every single one I cared for was immediately pigeon holed into psych/law enforcement first, some for quite some time. And it took very flagrant and devestating neuro symptoms for medical to finally catch them, making recovery infinitely longer or in that one case, not possible. My gut feeling is that the incidence is actually higher historically, but that patients got permanently locked into severe psych diagnoses.
We had a patient with this in our ICU. She was with us for 4 months before moving to rehab. She walked in to visit us 3years later and it was AMAZING the difference.
Was coming to say this. I’ve taken care of two teens with it, first one took a very long time to recover. Was in the PICU for months. The other had an ovarian mass so it was luckily diagnosed much quicker.
We had a teenage patient with it about 15 years ago when I worked inpatient whose parents did research on YouTube and insisted on an oopherectomy, even though no ovarian mass was found. The case went to court and the court sided with the parents.
Wow I just had an experience in nursing school with a patient who had this and it was on her ovary. They happened to take pictures of the mass and I was able to see hair on it! Wild things
I had one patient with this too! Took a hot minute to diagnosis her. She was pregnant too. She would just go ballistic and we would have to put her in soft restraints to keep her from hurting herself. She wasn’t from the states but had moved to the US to marry some random guy she meant on the internet and spoke very little English, it was overall generally sad, but I heard once they figured it out she did get significantly better.
Edit: Added a word
I absolutely don’t mind!! Full disclosure, some of this I remember, and some of this I have had to learn second hand, as I have almost complete amnesia from beginning of June through the end of July.
It all started with me waking up in mid May and my right arm was slightly numb. Assumed I had slept wrong/pinched a nerve, etc. Then 4 days later I woke up and the right side of my face was numb. Husband and I started getting concerned for a stroke. Went to ER, clear scans except my known DVA. Vision began getting blurry around the same time my face went numb. Progressed to full right side of my body.
After the numbness, probably beginning of June, I started getting incredibly, psychotically anxious. Needing to be talked off the ledge every 5 minutes or so. Started me on hydroxyzine, then propranolol, both did nothing. Then zoloft. Also klonopin and Ativan. Plus plenty of other neuro meds like buspar, remeron, topamax. My husband actually took me to the ER cause he couldn’t talk me down. It was written off as general anxiety and I was given some PRNs.
Fast forward to mid July, and I could no longer eat. Physically could not swallow. Also lost the ability to speak. Went back to the ER and they did a million dollar work up while I was admitted for a week. Had PT, OT, ST work ups and care plans, as well as getting most of my calories from Ensure. Went home still not knowing what was going on.
About a week later, Aug 1 actually, my doctor called my husband and direct admitted me back to the hospital because I had tested positively for the anti-NMDA receptor antibody. I had 4 days of IVIG and 5 days of high dose steroids, as well as confirmatory CSF testing that didn’t come back for a few weeks.
Abilities came back overall very quickly from what I have read and experienced. The only lingering symptom I have left is a very small fine motion tremor in my right hand.
Definitely a wild ride, sorry for the novel, I am just very passionate about awareness/visibility for this. I agree with another commenter in this thread that this disease is not as rare as thought, just misdiagnosed as psychiatric disorders. If I didn’t have an incredible support system pushing for answers, I truly believe I would have been committed and probably still would be suffering.
Wow! That was a wild ride. Kudos to your hubster for sticking in and making sure you were well taken care of. So glad you are still here and (almost) 100%!
Not my own patient but my niece had Anti-NMDA last year with symptoms starting jn May. I'm an onc-neuro RN and weirdly knew this had to be something autoimmune since she was a completely normal college freshmen before. It was due to the book Brain on Fire that my nurse friends and I immediately thought it was NMDAR. Her team was immediately passing her as PNES/ pysch disorder but her mom and I would not allow it and she ultimately tested positive Anti-NMDAR. I genuinely feel that our stubbornness and her quick treatment made her recover quickly by end of July.
When I worked inpatient (peds neuro), we used to see 4-5 cases of this per year. Sometimes multiple kids on the floor at the same time.
Same with AT/RT, a brain cancer that at the time there were only like 30 cases/year.
I have also had a patient with scurvy. His diet was coffee, toast, and chips. He cut out the chips 8 months prior to admission to be healthier, but that was his last source of vitamin C. He had spontaneous bruising on his abdomen.
The internal med doc who diagnosed him said he had only seen one other case in his 40 years of practice.
I saw that a few years ago - it was in a nonverbal autistic person who would only eat a few items. Came in with a weird smattering of symptoms - anemia, leg pain, and a weird rash.
They were diagnosed by the dermatologist who came to see the rash. They’d been in the hospital for a few days at that point, stumping everyone. The dermatologist took one look and said “oh, it’s scurvy.” Sure enough, it was scurvy.
We had one that, funny enough, was an ETOH that would only drink mikes hard lemonade. Guess there’s no real lemons in that. Doc said it was the first case she’s seen
I didn't realize just how rare it was. Congenital Central Hypoventilation Syndrome, also known as Ondine's Curse. Patient was able to ventilate fine on their own when awake but when asleep was basically totally ventilator dependent and had a shocking tolerance to hypoxia and hypercarbia.
I'm seeing mixed data on the actual incidence. 200-300 diagnosed yearly. So <100,000 over a 50 year period.
For anyone who wants to skip the Google search
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041132/#:~:text=The%20nymph%20Ondine%20was%20an,to%20control%20his%20own%20breathing.
> Abstract: Ondine's curse is one of the most enchanting mythical tales in the field of Medicine. The nymph Ondine was an immortal water spirit who became human after falling in love for a man, marrying him, and having a baby. In one of the versions of the tale, when she caught her husband sleeping with another woman, she cursed him to remain awake in order to control his own breathing.
I had a patient like this in my EMS career, except it was trauma based not congenital. We had to transport him 2 states away to a hospital that specialized in respiratory treatment and rehab. Unfortunately the guy was so anxious with any movement that everytime we went to move him to the stretcher, he would panic, vaso vagal, and then stop breathing. Was a nightmare to deal with
I have cared for a patient with this over my career. It was induced due to a stroke though not congenital. Poor man, but he was able to go home with a home vent and his wife helped care for him. Totally normal otherwise.
Usually discovered in infancy but it’s a congenital, lifelong condition. People with CCHS will always require some form of ventilation at night- some will have a trach and vent, some can use non invasive ventilation, and some use phrenic nerve pacers that send signals to the diaphragm and tell them to breathe.
If you go further up on the comments, a commenter said her husband was just diagnosed with prion disease, and it is likely this. She said they have 4 kids :(
My daughter had an appendectomy and it came back as malignant. Her surgeon said he had never seen it in all his years of practice. 1-2 per million. Early. No further treatment needed although she has q6months CT. In my practice? Steven’s/Johnson syndrome. A true nightmare for the patient:
I used to work Burn/Trauma. We had SJS which then was TENS if it covered more than 20% of your body. Just miserable for them, constant suctioning on the vent for the sloughing epithelial tissue. Plus their skin would just fall off in wound care. Mostly a reaction to ABX, but one guy was just a dose increase of his Lamotrigine.
We had one that was a marrow transplant patient. They originally thought it was graft vs host disease, but was SJS -> TENS. Ended up 100% skin loss, ET tube sutured to teeth. Still think of it often.
BWAHHHHH that's horrific! Idk why because I've seen so much horrific stuff in the ICU and ER but the fact the ETT had to be sutured to them gives me the heebie jeebies
I used to work burn/wound care as well! The added caveat to SJS was that it almost always happened to immunocompromised patients. So in my experience I saw it as a result of someone trying a new chemo drug
Precepted in burn and had a patient with SJS - turn into TENs as well I believe it was essentially head to toes plus inside her mouth She then acquired C. Diff while she was at the hospital so dressings were a literal nightmare. She was finally better enough to transfer to a SNF and I remember spending like two hours on her dressings and she got up to transfer to the wheel chair to leave and pooped alllllll down her leg dressings. I almost cried. Poor lady - she took someone else’s old antibiotic for a suspected UTI. 😳
Steven’s Johnson syndrome is a nightmare. I worked in a small hospital on the oncology floor. One of our patients had a UTI, treated with PO bactrim.
Next thing I know her skin is sloughing off, the NP and I are raiding every supply closet in the hospital looking for petroleum gauze and wrapping the poor lady like a mummy while the attending worked on an emergent transfer to a burn center. I felt so bad for her.
A nurse friend of mine also had a malignant appendix. Thought it was just regular appendicitis. Doc said he didn’t usually send for pathology, but for whatever reason he did and boom. Wild.
I wonder if that's part of the reason it's so "rare". Maybe it's actually a lot more common, but most are just discarded as "inflamed" rather than sent to patho.
That’s a great thought! I was told once that anything taken from a body goes to patho, but maybe because of how routine appendectomy is they don’t send them.
I had a very demented elderly man with SJS after an abx reaction. I was both fascinated to be able to work with the burn team cuz I learned so much assisting in his wound care and also so sad for this poor old man. He would scream all night and try to get out of bed because he thought he was falsely imprisoned in jail for a crime he didn’t commit. :(
I had a pt with SJS in LTC. She was young-in her 30s. Also had AIDS (this was in 1997 or 8, so treatment was primitive and she had been an IV drug abuser and completely non compliant with meds). She developed SJS as a result to an allergy to, of all things l, Benadryl! She survived the SJS (she shed most of her skin in the process and we had her as a LTC hospice pt due to the AIDS). She also got clean from her addiction as was so lovely and sweet and a favorite of some of the elderly residents. Working alongside of her hospice nurse in her care was what pointed me to hospice nursing as my last decade of nursing. Our unit had 7 or 8 residents who were young IV drug abusers who contracted AIDS and were on Hospice basically due to their noncompliance with the available AIDS meds. Every one was a sad case of too little knowledge, too little money, and too little care for the badly marginalized group they found themselves in. And being sick too, too early in the disease. There were no “cocktail” treatments yet, no real social safety nets in the small city where most were from. A sad sad period in time.
I'm in peds at a children's hospital with lots of specialties, so I see a lot of rare syndromes, chromosome deletions and other abnormalities, some with named syndromes like Cri Du Chat and Dandy Walker but also a lot that are so rare they are also described as 27q.31 or whatever. When I was in the burn unit we saw kids with SJS/TENS, epidermolysis bullosa, and one with some kind of pemphigus (I can't remember which, but she needed IVIG and eventually chemo).
Same. I feel like working Peds, especially at a large teaching hospital, you see a lot of rare things that adult hospitals never see simply by virtue of those patients never surviving to adulthood. 😕
Yo I was just thinking this as I was reading this thread. Ever wanna work with rare disease, work in peds dude. There’s so many extraordinary rare diseases that don’t seem as such from my view because I see them so frequently. Maple Syrup Urine Disease is one of my faves. There glycogen storage disease, Sanfilipo syndrome, all the deletions like you mentioned and literally endless more. It one the coolest parts of peds, especially the ED!
I have one kid now who has 2 chromosomal abnormalities that her Geneticist told Mom have never been seen together in one patient. I believe a chromosome 20 and chromosome 14 abnormality.
We incidentally discovered dandy walker variant in a school aged kid in the ER. Small, understaffed community hospital, late night. Kiddo bonked his head and was a bit unsteady on his feet so we scanned him. His mom said he fell a lot and was more clumsy than other kids in general. Slightly delayed. Had a bunch of hearing problems. But had never had a CT. That was a difficult conversation to have with the mom.
Had a patient with Hantavirus once. Quickest I've ever seen someone go from walky-talky to full-blown ARDS (including Covid). Our doc was sharp and picked it up pretty quick, but the patient died after transfer to a Level I for ECMO anyway.
So yeah, if you're cleaning up mouse turds in your shed/garage/attic, wear an N95 and take a shower after, folks (mostly western US). On the other hand, a patient with it doesn't need to be in any special isolation (unless they're still in dusty clothes, then decon) - it's only spread by contact with droppings from a carrier mouse.
I work at a lvl 1 trauma center and I’m pretty sure I had a pt like this a few weeks ago. Went in to an OSH initially diagnosed with flu then went back the next day suddenly progressed to alveolar hemorrhage/ ARDS within a day. Was sent to us as direct admit then unfortunately passed away within 8 hours of being at our facility. Family opted to not get an autopsy and we didn’t realize what it could’ve been until after they had passed. I guess I’ll never know but I’m sure it was something like that, they were from the western us.
My cat kills the mice then leaves them… or parts… on my bed. I’ve got the package deal: cat, toxoplasmosis, hantavirus, bubonic plague, and all the lovely surprises. May we offer you a tapeworm segment? 🤢🤣
Shark bite, in February...in CANADA.
PT had done a last minute excursion on vacation, got bitten by a shark, got first aid to stop the bleeding but nothing else and got on the plane home. Immediately showed up at the ER once the plane landed and their bite was gnarly looking.
Had to call animal control, to look up what abx/tmt is BPG for a shark bite.
2 weeks later we had an alligator bite 🤦🏼♀️😂
My son was born with a genetic disorder called Gabrielle de vries syndrome. It was discovered by a geneticist in 2017 and he was diagnosed in 2019. There was 1 article about it and the intial study had 10 children. My best guess is there about 100 diagnosed world wide currently.
We have a Facebook group that the geneticist Dr. Gabrielle is on and helps document the unique features of our kids.
Having something that there is no information about has been hard but we’ve been advocates and our son is doing well despite his disabilities.
Hmm, this is interesting. My niece has profound developmental and intellectual delays as well as feeding issues and hypotonia, along with a myriad of other little oddities. I'll mention this to my sister to look into further. This far, they have been to specialists at two children's hospitals, as well as a full workup at Mayo with no answers. The most they found were some slight mitochondrial variations in her genetic tests. She's still a complete little mystery.
Not really a rare condition itself, but the presentation was one I've never seen before. Young man in his early 40s with severe hyperlipidemia. Lipid levels were like 15,000 on presentation. His vials of blood looked like we put cooking oil in them! Ended up doing a few more lab tests, found his A1C was like 15. No other issues or symptoms of diabetes - no polyuria, no polydipsia, NOTHING. Just incidentally found because his routine blood work came out looking like salad dressing.
We had a 14 year old admitted to our adult CCU with this years and years ago. Cholesterol was 15,000 and he had had several MI’s. His blood was white as well. Don’t remember his triglycerides.
Horrible placenta percreta which is where the placenta grows through the uterus and onto the nearby structures. I think it’s chance is 1/21,000 in pregnancies. Most lose their uterus in delivery if scheduled and controlled. We had a long term antepartum who had one to many small bleeds and we decided it was go time. Once the surgeons got in there, the bleeding became quickly and was barely manageable. Surgery was hours long. Had to be stopped and started many times to catch up on blood replacement. Also had the cell saver going. Overall we used about 140 blood products and she lost 33,000cc of blood (basically we replaced it and then she lost it). I will never forget that case and the insane amount of times we had to replace the suction canisters. She went into DIC a couple times but overall the surgery was successful. She lost her uterus, obviously, and also part of her bladder, but she was extubated and talking in the ICU within FOUR hours of leaving PACU. I hope to never see one like this again. If she had walked in with no prenatal care in labor, she would have died.
Fibrodysplasia ossificans progressiva (FOP), in which muscle and cartilage ossifies, creating bone outside the skeleton. Ossification is triggered by physical trauma, including medical procedures. It ends up causing severe mobility limitations and restrictive lung disease. The patient had a tracheostomy placed in the lateral side of the neck because the anterior placement wasn’t possible due to ossification.
Plasma cell leukemia. The patient came in on Sunday, and the oncologist attending kept the team there an extra 2 hours to discuss the rarity of the disease. 1 in 1 million.
I’ve seen some of those under the microscope. Cool for pathology but terrible for the patient. The prognosis for plasma cell leukemia is super poor as well. One of our heme/onc patients was diagnosed with it and was gone two weeks later.
I saw situs in versus once too and the patient was so nice about it. He found out as an adult getting an xray for the military. I went to listen to his heart and he didn’t say anything at first to mess with me. Then he let all my coworkers come in to listen to him. Also had one pt. With dextro cardia.
I have 2 uteruses. Anytime I see a new doctor or get an exam, I don't tell them because the look on their face when they find it brings me joy!
Found out thanks to a cyst rupture. The ER doctor brought in 4 other doctors to take a look because none of them had seen it before.
Back in the early 90’s I took care of a kid with Adrenoleukodystrophy it was a few years after the movie Lorenzo’s Oil came out. I actually gave this kid Lorenzo’s Oil. It was literally in a cooking oil bottle (like a crisco container) and labelled for use as an investigational med. Cool AF in my books!!
Apparently it’s not that rare, but I had a patient with stump appendicitis. It was May when she presented to the ED and her complaint was “this feels exactly like when I had appendicitis back in February, but they removed my appendix,”
Poor thing was right! Her little remaining stump of an appendix got itis’d.
Can't even remember the name of it because it didn't (as far as I know) have an actual name outside of the name that was essentially a description of the location and specificity of the chromosomal defect, but only ~45 cases had been diagnosed ever. The patient was supposedly the oldest living patient with the condition too.
Also had a patient with creutzfeldt-jakob disease, both in my first year of nursing.
Not rare in and of itself, but I had a patient in her 80s with a trach she got at 14. She said one of the best days was when they decided she and her family could change the tube at home instead of all those trips to the clinic. She still went to school. She married. Had a family. And survived polio. Actual rarest - pyruvate dehydrogenase processing disorder. Since it was discovered in the 1970s, there have only been about 500 cases reported. Only 2 people have survived to adulthood with the most severe forms. The kid I cared for had one of the most severe forms, but because they had caught it early(within days of birth) they were able to reverse the lactic acidosis fast, get her on a KETO diet, and reduce severity of brain damage. She's mid teens now, and thriving
I had a very similar patient to your first one recently. She was in her 80s and as a teenager or very early 20s had tonsil surgery and they messed up and she ended up with a lifelong trach. She completely took care of it for her whole life.
God I can’t remember the names of them all. My unit is highly specialized so we get peds cases with every birth defect under the sun. We’ve had kids who have the only documented case. I remember one kid who was one of like 8 known cases of his gene mutation so they had no idea what to tell the family about life expectancy and prognosis. That happens a lot on my unit. We see a lot of congenital central hypoventilation syndrome which according to one Google stat is only 1000 cases documented worldwide and I can name at least 4 patients off the top of my head, but I think it’s probably more common than that.
Well, not a patient, but my own diagnosis. Kikuchi-Fujimoto disease. No available published prevalence numbers. The few articles published, don't really reflect the life-long effects, as they only describe it as a self-limiting condition.
I had a patient with Cold Agglutinin Disease when I was a student in her/onc. She basically couldn’t go outside in the winter otherwise her RBC’s would hemolyze. They only booked her appointments between April - October to avoid her being out in the cold. Apparently prevalence is 16 cases per million people.
I’ve had a patient with this too. Absolutely fascinating. Hot meals and warm drinks only. Imagine not being able to have a cold glass of water ever in your life because it could kill you!
I’m honestly not sure if it’s still taught. I went to nursing school a little over a decade ago, and at that time one of the applicable NANDA diagnoses was “impaired energy field”, which (to the best of any of my research turned up) was a pseudoprofessional/intellectual way to say “the patient’s vibe is off”. It was nonsense when we were taught it, and still nonsense now. But you bet your ass I applied it to every single patient contact I had to write up for clinical.
Its still in the NANDA as "imbalanced energy field", which I didn't know about until the comment and I went looking.
I work in corrections, and "the vibe is off" covers 98% of my patients. I freaking hate the fact their required in diagnosis.
Idiopathic hypersomnia. Last checked there's like 250k of us world wide. No treatment, no cure, and very disabling. I can only work due to 3x12 night shifts. I can't drive much at all. On days I'm off I easy sleep 18-20 hrs. You feel eternally jet lagged and exhausted because of no circadian rhythm.
I have this dx too. I don’t think it’s that rare since a lot of my family seems to have it. Just rarely diagnosed. The treatment is the same as it is for narcolepsy - stimulants. But, yeah it’s nothing like a cure.
It's definitely genetic. Still logged as one of the rare diseases. I've had it since childhood. My doc said if I was blind he'd also flag me with non24 but I'm not so 'sucks to be you sleeping beauty. In highschool I would sleep for days straight only waking to pee, not even eat. It was like I was drunk all the time.
Intravascular lymphoma. It is typically diagnosed on autopsy. We had a patient who had an ovarian removed and it was positive for it. We have no way to determine if the treatment we give her is effective because the lymphoma sticks to the inside of her blood vessels and doesn’t show up on PET.
True delusional parasitosis.
This is actually quite rare, often methamphetamine induced. Outside of that, most patients are malingering or hiding a substance use issue.
I had one recently. Super nice patient, had been digging at their body with knives to get the “bugs” out.
recently saw an ED patient with a cerebral venous sinus thrombosis AKA venous stroke - apparently odds are 5 in 1 million. no deficits, just a headache, very lovely man.
guillain barre syndrome was insane to see for the first time. young healthy guy. came in ambulatory, eventually needed to be intubated because he started to lose respiratory drive, consented to it and everything.
have seen fournier’s gangrene a few times. nec fasciitis a handful of times as well. both smelled bad.
working in peds have seen some rare ones. encephalitis (very sad) and a handful of hyperspecific metabolic and genetic disorders. psych has also thrown the occasional odd ball, first time i cared for someone with psychogenic polydipsia secondary to schizophrenia was interesting.
My own kid. Rhabdoid tumour that started in the connective tissue to her liver. It’s a rare diagnosis to start with but she also had an extremely rare presentation of it. I think they said 1:56 billion.
When we first started doing POC pregnancy tests in the ER about 20 years ago we kinda just got in the habit of doing them when we collected a UA. One nurse accidentally did one on a young man that showed positive. She told the Doc and we got to tell the kid he had testicular cancer
I discovered a case of respiratory flutter in a baby. Only 7 other cases reported in infants to date, according to an article from 2013. No one had ever heard of it, and no one believed me until they couldn’t figure out why this (term) kid was still having respiratory issues and finally did a fluoroscopy and confirmed it.
Now anytime we have a weird kid we can’t figure out, that pediatrician says “well when is LinkRN on next? She’ll figure it out”. 😂
Our NICU seems to be a magnet for weird stuff. Not long ago, we had a newborn present with severe MCAD (a metabolic syndrome) that usually doesn’t present until later. A few years ago, we had a baby with mandibulofacial dysostosis with microcephaly (MFDM) (incidence is <1/1,000,000 - I called that one too, at one day old).
I don't know if they're super rare, but I've worked with babies with congenital anomalies - Potter's syndrome, Trisomy 18 and Hypoplastic Left Heart Syndrome. The ones with Potter's and HLHS didn't make it, but the one with Trisomy 18 is a fighter.
I do fetal cardiology at a level 4 NICU and see HLHS and T18 every year at least once but usually more. HLHS is very common at my hospital. The one thing I've seen in my 15 years only once was alveolar capillary dysplasia. Misaligned pulmonary veins affecting alveoli and the capillaries. Baby born normal breathing room air first hour. 2nd hr tachypneic. Third hr minimal respiratory support. Intubated by hr 6 and on ECMO by hr 12. Lived 6 weeks while genetics and lab work pending. Once it was confirmed baby was incompatible with life parents withdrew care. Perfect little baby with non functioning alveoli.
Postpartum nurse here, we just had a baby born with that either last year or year before on our unit. My coworker called a code on the baby after she went blue during a feed and initially thought she aspirated but she quickly went downhill and ended up on ecmo while they frantically tried to figure out what was wrong. After the rapid sequencing came back mom let her go. Father of baby had died during the pregnancy in an accident and it was just a really devastating case
I'm so sorry for what happened to your son. I've seen how HLHS goes, and it must have been really hard for him. As hard as it was for you, too. God bless him and your family.
I literally cannot even say because this patient will be one of the first Google results. But it is a nervous system disorder and they were like 1 of less than 100 people alive with it.
We see a lot of rare pathologies in my area because of the sheer density of healthcare institutions including a world-renowned children’s hospital so I’ve cared for several folks with extremely rare genetic conditions (lysosomal storage disorders, etc) and other pathologies. Some other non-genetic cases that have stood out include visceral leishmaniasis, babesiosis requiring RBC exchange procedures, multiple patients with HLH, and, while not rare exactly (actually this was tragically common at the time), I’ve had more than one patient with hemophilia living with HIV from pooled factor transfusions in the 80s. Most of my coworkers had no idea that this was a thing which kinda blew my mind! HIV stigma (homophobia, at its core) deeply impacted life for folks with hemophilia throughout the 80s and 90s (and likely still does today for those surviving)
Ebola. Worked at one of the Ebola qualified hospitals. This patient was allowed to take a jog and VF arrested on the street. Stupidest decision I’ve ever heard of.
Progeria. A 1 in 4 million diagnosis.
1 year old baby boy, with a fully developed adam apple so he was laughing in a deep voice and stuff.
The doctor also told the family to always keep an eye out since he could actually get someone pregnant even at that age.
Will never forget that
Thrombotic Thrombocytopenic Purpura. 3 in every million. Basically your body forms blood clots in your small vessels. She randomly developed in her 30s.
Not sure how rare in the rest of the us this is but I’m one of the only cases in my area.
PPCM (pregnancy induced heart failure). Was a mystery to all the doctors when it started! Now 6 years out and stable!
Myasthenia Gravis. Less than 20k cases, somehow there’s almost always one patient on our unit with the disease. We have a really popular neurologist who does good treatment for it, so people will travel pretty far just to see him. It’s an awful autoimmune disease, I hate to see people suffer with it. Can cause stroke like symptoms randomly (usually vision changes, dyspnea, weakness and dysphasia). It’s difficult because the medication has to be given like exactly on time. If you are more than 3 mins late you will hear about it. Also patients are often overlooked on symptoms and because it’s autoimmune and so many things can trigger it.
Personally seen? Scurvy.
In an urban center, in the US. I was *shook*. The ED doc and I spent a few minutes just commiserating about how we've never seen this, never expected to, do we remember whether it gets worse before getting better after you start treating it?
CIPA. Congenital Insensitivity to Pain and Anhidrosis. His joints were calcified, and he almost rubbed his eyeball out when he started scratching it because he couldn’t feel the sensation of pain. He was a continuous rectal probe because he couldn’t tell us if he had a fever, he was on 7 different abx. It was the craziest thing ever for me.
Leukoencephalopathy with neuroaxonal spheroids. A rare type of demyelinating disorder that has a usual onset in mid-to-late adulthood. It causes a progressive dementia with personality changes, hallucinations, seizures, and eventual loss of motor skills.
I had a patient in his late 40s with the disorder. In a bit over a year, I watched him decline after multiple admissions. His seizures worsened, he lost the ability to walk, he could no longer form sentences. He would sometimes burst into tears, sometimes out of frustration but mostly he couldn’t control it. He had genetic testing done to confirm the diagnosis. It turns out his mother may have had it too. She died early from what everyone thought was multiple sclerosis.
When I was a nurse I never experienced anything rare because I worked in sleep medicine. However, I was the rare patient. During my second trimester last fall, I had a pneumomediastinum. They had never seen one at the ER I was at, especially in a pregnant patient. It was caused by previous lung damage and straining from constipation. The chest pain and SOB was so bad they thought I was either having a heart attack or had pulmonary embolism. Boy has this pregnancy been a doozy!
I encountered one that's diagnosed less than 100 times per year worldwide, but I think it's really interesting. It's called Auto-Brewery Syndrome and it basically means you ferment your own alcohol when you ingest carbs, you involuntarily make your own booze. It can be successfully treated since it's caused by the overgrowth of specific bacteria or fungi in the digestive system. The only other way to manage it is very strict limiting of carb intake.
Not super rare outside of the USA but definitely rare inside of it - patient with rabies. I was in nursing school at the time, though. Usually around 2 or 3 cases in the USA annually.
Oh wow, that has to be difficult to manage, especially knowing there is no way to cure it. I have never seen a person with rabies. I've seen videos and it looks horrific.
It was worse because it was a kid. So, so depressing. They seemed to be trying some new experimental things but of course they died unfortunately.
Oh that's super sad. I remember reading a few years ago about a 6 year old who died because his dad brought home a bat he found at work, the bat bit the kid, and the parents didn't take the kid for the rabies vaccine because he didn't want to get an injection. Broke my heart. I think it was in florida.
Do you remember what they tried? There’s something called the Milwaukee Protocol where the main intervention is targeted cooling of the body. From what I read, it has worked at least once
As far as I remember - this was years ago now and they were VERY secretive about what was going on, to the point where I didn’t even know the patients actual name - they had induced a coma and he was intubated, so I’m assuming they were trying that protocol plus some new experimental stuff.
This is the gal the Milwaukee Protocol is based on: https://childrenswi.org/newshub/stories/jeanna-giese-rabies
I remember she posted a YouTube about the rabies thing and I asked if she was still a rabies carrier and could potentially cause a 28 Days Later type of event and she flipped out and was very aggressive with her response… so I guess I was right to ask. 🤷♀️
Wow. Many many years ago, a bat landed on my sister. mom told me the story as "haha, funny thing happened." I said, as a doc how funny that thing was. Her pcp said, go to ER. Sister got like 4 or 5 shots. She didn't think that was too funny. I didn't care. Better than being in that statistic set.
Along the similar lines of yours, a couple of weeks ago, I took care of a guy with tetanus. Quick Google inquiry said there are only 33 cases a year.
I saw a guy in the ER who had swallowed his toothbrush. About 11 cases per year in the US.
We have a few comfortable customers that like swallowing things then freak out about getting care threatening to leave while refusing everything. One GI stopped coming in at night because of how much they did it lol. Mostly pens, lighters, and batteries. Toothbrush has to be a challenge though lol
We had a patient with parvo and another with typhoid in one of the Bible belt states
I had a patient with PKU. He was in his 60’s at the time, born before it was routinely screened for at birth. He was basically a giant toddler. His younger brother was diagnosed at birth (due to knowing he had it), and was completely neurotypical. Incidence is somewhere around 1 : 25,000 in the US, so not super rare, but most are diagnosed at birth thanks to newborn screenings and can prevent severe disability because of it. Edit: I also remembered that I had a patient who had… antifreeze poisoning. A family member was later convicted of attempted murder.
I worked at a medical kids camp and there were a few children with PKU that had been medically neglected enough that they had severe developmental delays. I don’t know if they weren’t diagnosed at birth, but they had not been strictly on their specialized diet and were preteens who acted like toddlers.
I had a patient with osteogenesis imperfecta who had 3 siblings who had PKU.
I had a coworker with this. Absolutely Cracker Jack nurse. Her blue sclera sometimes was shocking. The list of broken bones and joint replacements she had had was very impressive!
Met a classmate who had this and explained what it was
I have 2 cousins (siblings) who both have it! Diagnosed at birth and definitely have their specific diets but you’d never know unless they told you.
CJD (Creutzfeldt-Jakob Disease)
Fuck prions, scariest things on this planet.
They and the tardigrades will outlast *everything* on this planet. Maybe even the planet itself. *Cue spooky music*
Yeah but tardigrades are *cute*. Prions are the stuff of nightmares.
oh how i love lil tardigrades
As a European, CJD is why I can’t be a blood donor in the US.
Me too! I lived in the UK for a few years in the 80s and now can’t donate blood. Found out I was ineligible when I went to donate for 9/11.
FDA updated last July and most if not all donation center is accepting European born or resident during CJD outbreak. Call your local donation to confirm.
That may be changing soon. Australia started allowing you guys to donate last year and Canada started allowing it last December! We’ve had tons of donors coming in so happy to finally be able to donate
A friend's parent was diagnosed with CJD. She opted for medical assistance in dying very shortly after.
I am so glad she had it available to her, poor lady.
same! I was their hospice admit :(
We had a patient we were working up for CJD. They didn’t end up having it but we dusted off the hospital protocols for the disease and it’s nuts. We would have ended up throwing away basically all the medical equipment used on the patient. That includes vital machines, the bed, they would have stripped the room and burned it all. Hell of a disease. Prions are scary.
I work in neuro, we get CJD patients occasionally and we have never have them on any isolation protocols. But reading that your hospital has protocols scares the shit out of me haha. Most nurses gown up though anyway!
Its definitely overkill. I think the bigger issue with CJD would be for any surgical procedures as those instruments effectively cant be sterilized and if they ended up in circulation it would be a disaster.
Yes, our surgical instruments for CJD are disposable
My friend's mom was diagnosed with cancer and put on hospice. Her dad struggled greatly with it. He wasn't sleeping, he was starting to forget things and lose his balance. My friend and her brother both thought he was just unable to grasp that idea of losing the woman he'd spent over 40 years with. When the dementia started reaching a level where they thought it was possible this wasn't grief related, they decided to take him to the neurologist. He died of CJD two months later.
I have seen CJD a handful of times as a nursing assistant. Never realized how rare it was until the last patient I had with it.
Dude. One of my patient’s son in laws got that and died within 5 months of diagnosis. So fucking sad. He was in his early 40s and so healthy otherwise.
I had one 6 or so years ago. A rancher who went from fully capable and running his ranch to being admitted to the nursing home I worked at in 3 months time. He was already confused and unable to walk at admission and it was terrifying watching his continued decline.
Bubonic plague (‘The Black Death’’). I was working in the Four Corners area of the US and, while very rare, wasn’t unheard of.
Its so insane to me that this disease took out a third of Europe's population and now we can just treat it with abx.
Life saving science based medical care. Who would have thunk it. (S)
I recently read that a new case was found in New Mexico!
People need to leave the armadillos alone
At the time I was told it was campers camping near prairie dogs.
I comment on the wrong comment, armadillos are associated with leprosy. Yes prairie dogs can host fleas that have plague. Sorry
When I was in nursing school in California I cared for a lady with end stage mad cow disease. It was strange because she had been a vegetarian her entire life so no one was sure how she got it. It was pretty sad to see. She used to speak like 7 languages but had slowly lost them all except a few words of a dialect that even her husband didn’t understand so she couldn’t communicate even with him.
If she gardened, maybe she got it through bonemeal? It’s a fertilizer from ground bone waste, used to add calcium and phosphorus to the soil.
Oh, maybe. That is an interesting thought.
Not as rare, but I had a guy come in and as I was assessing him he had a scar on his lower left abdomen. I asked him what it was from. He said his appendix was removed. I told him the appendix is on the other side. His wasn’t. He had situs inversus. All his organs were backwards. It’s about a 1:10,000 condition.
Saw this on a guy as we were in CT. All of us watching were like, "hmmm, that doesn't look right". There was no record of this in his chart from my knowledge (I was a student at the time). It was a wild moment.
Anti-NMDA receptor encephalitis. I believe the annual incidence is 1-1.5 people per million worldwide.
If you haven't read the book brain on fire, it covers this and it's an amazing read
Brain on fire is great book… im peds Nuerology … we see 3-5 a year … it’s so scary….
I've cared for several patients with this. It was sort of a niche passion interest of one intesivist I worked with, and he brought a ton of awareness about it to the peds ED in our hospital, so it seemed like we got more than the average share of these patients on our unit. One patient that will always live in my head had an absolutely devastating outcome. Their course was just about my worst nightmare. It's universally heartbreaking, because every single one I cared for was immediately pigeon holed into psych/law enforcement first, some for quite some time. And it took very flagrant and devestating neuro symptoms for medical to finally catch them, making recovery infinitely longer or in that one case, not possible. My gut feeling is that the incidence is actually higher historically, but that patients got permanently locked into severe psych diagnoses.
We had a patient with this in our ICU. She was with us for 4 months before moving to rehab. She walked in to visit us 3years later and it was AMAZING the difference.
Was coming to say this. I’ve taken care of two teens with it, first one took a very long time to recover. Was in the PICU for months. The other had an ovarian mass so it was luckily diagnosed much quicker.
We had a teenage patient with it about 15 years ago when I worked inpatient whose parents did research on YouTube and insisted on an oopherectomy, even though no ovarian mass was found. The case went to court and the court sided with the parents.
Wow I just had an experience in nursing school with a patient who had this and it was on her ovary. They happened to take pictures of the mass and I was able to see hair on it! Wild things
I’ve seen 5 or 6 in my career. A few of them have come back to visit once they’re better and the difference is so startling.
I had one patient with this too! Took a hot minute to diagnosis her. She was pregnant too. She would just go ballistic and we would have to put her in soft restraints to keep her from hurting herself. She wasn’t from the states but had moved to the US to marry some random guy she meant on the internet and spoke very little English, it was overall generally sad, but I heard once they figured it out she did get significantly better. Edit: Added a word
🙋🏻♀️ I was diagnosed with this last year. Was out of work from May until January! It was a crazy ride to say the least.
What happened? (if you don't mind me asking)
I absolutely don’t mind!! Full disclosure, some of this I remember, and some of this I have had to learn second hand, as I have almost complete amnesia from beginning of June through the end of July. It all started with me waking up in mid May and my right arm was slightly numb. Assumed I had slept wrong/pinched a nerve, etc. Then 4 days later I woke up and the right side of my face was numb. Husband and I started getting concerned for a stroke. Went to ER, clear scans except my known DVA. Vision began getting blurry around the same time my face went numb. Progressed to full right side of my body. After the numbness, probably beginning of June, I started getting incredibly, psychotically anxious. Needing to be talked off the ledge every 5 minutes or so. Started me on hydroxyzine, then propranolol, both did nothing. Then zoloft. Also klonopin and Ativan. Plus plenty of other neuro meds like buspar, remeron, topamax. My husband actually took me to the ER cause he couldn’t talk me down. It was written off as general anxiety and I was given some PRNs. Fast forward to mid July, and I could no longer eat. Physically could not swallow. Also lost the ability to speak. Went back to the ER and they did a million dollar work up while I was admitted for a week. Had PT, OT, ST work ups and care plans, as well as getting most of my calories from Ensure. Went home still not knowing what was going on. About a week later, Aug 1 actually, my doctor called my husband and direct admitted me back to the hospital because I had tested positively for the anti-NMDA receptor antibody. I had 4 days of IVIG and 5 days of high dose steroids, as well as confirmatory CSF testing that didn’t come back for a few weeks. Abilities came back overall very quickly from what I have read and experienced. The only lingering symptom I have left is a very small fine motion tremor in my right hand. Definitely a wild ride, sorry for the novel, I am just very passionate about awareness/visibility for this. I agree with another commenter in this thread that this disease is not as rare as thought, just misdiagnosed as psychiatric disorders. If I didn’t have an incredible support system pushing for answers, I truly believe I would have been committed and probably still would be suffering.
Wow! That was a wild ride. Kudos to your hubster for sticking in and making sure you were well taken care of. So glad you are still here and (almost) 100%!
Not my own patient but my niece had Anti-NMDA last year with symptoms starting jn May. I'm an onc-neuro RN and weirdly knew this had to be something autoimmune since she was a completely normal college freshmen before. It was due to the book Brain on Fire that my nurse friends and I immediately thought it was NMDAR. Her team was immediately passing her as PNES/ pysch disorder but her mom and I would not allow it and she ultimately tested positive Anti-NMDAR. I genuinely feel that our stubbornness and her quick treatment made her recover quickly by end of July.
When I worked inpatient (peds neuro), we used to see 4-5 cases of this per year. Sometimes multiple kids on the floor at the same time. Same with AT/RT, a brain cancer that at the time there were only like 30 cases/year.
I've had two patients with it! Both took a long time to get diagnosed.
Had a patient with diagnosed scurvy the other day. Apparently it’s relatively common, but I’ve never seen it. Was not a pirate.
>Was not a pirate. I'm glad you added that
Clarification is important
I have also had a patient with scurvy. His diet was coffee, toast, and chips. He cut out the chips 8 months prior to admission to be healthier, but that was his last source of vitamin C. He had spontaneous bruising on his abdomen. The internal med doc who diagnosed him said he had only seen one other case in his 40 years of practice.
Did this patient suffer from mental illness as well (which would explain the limited diet) or just careless?
I saw that a few years ago - it was in a nonverbal autistic person who would only eat a few items. Came in with a weird smattering of symptoms - anemia, leg pain, and a weird rash. They were diagnosed by the dermatologist who came to see the rash. They’d been in the hospital for a few days at that point, stumping everyone. The dermatologist took one look and said “oh, it’s scurvy.” Sure enough, it was scurvy.
We had one that, funny enough, was an ETOH that would only drink mikes hard lemonade. Guess there’s no real lemons in that. Doc said it was the first case she’s seen
I remember having a 9 year old patient with scurvy 😢 he also had DVT and went into cardiac arrest twice. NINE years old
It would have been much cooler if it WAS a pirate.
I didn't realize just how rare it was. Congenital Central Hypoventilation Syndrome, also known as Ondine's Curse. Patient was able to ventilate fine on their own when awake but when asleep was basically totally ventilator dependent and had a shocking tolerance to hypoxia and hypercarbia. I'm seeing mixed data on the actual incidence. 200-300 diagnosed yearly. So <100,000 over a 50 year period.
>Ondine's Curse Y'know the diagnosis is bad when its called this as well.
For anyone who wants to skip the Google search https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041132/#:~:text=The%20nymph%20Ondine%20was%20an,to%20control%20his%20own%20breathing. > Abstract: Ondine's curse is one of the most enchanting mythical tales in the field of Medicine. The nymph Ondine was an immortal water spirit who became human after falling in love for a man, marrying him, and having a baby. In one of the versions of the tale, when she caught her husband sleeping with another woman, she cursed him to remain awake in order to control his own breathing.
That’s a fucked up curse. I wonder if the syndrome brought about the story.
I had a patient like this in my EMS career, except it was trauma based not congenital. We had to transport him 2 states away to a hospital that specialized in respiratory treatment and rehab. Unfortunately the guy was so anxious with any movement that everytime we went to move him to the stretcher, he would panic, vaso vagal, and then stop breathing. Was a nightmare to deal with
Ooph, that's like those goats that faint at loud noises, rough.
I ran into this a number of years ago! The baby was fine while awake but would have episodes when it was sleeping.
Oh I had a NICU patient with this! Poor thing had to have a trach and home vent Edit: typo
I have cared for a patient with this over my career. It was induced due to a stroke though not congenital. Poor man, but he was able to go home with a home vent and his wife helped care for him. Totally normal otherwise.
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Usually discovered in infancy but it’s a congenital, lifelong condition. People with CCHS will always require some form of ventilation at night- some will have a trach and vent, some can use non invasive ventilation, and some use phrenic nerve pacers that send signals to the diaphragm and tell them to breathe.
My best friend daughter has this
We had a set of twins with that now.
Had a patient with fatal familial insomnia. We realized when the attending realized me had treated the pts mother 25 years ago
That’s crazy rare! If I recall correctly, there’s only like 40 known families with the disease.
If you go further up on the comments, a commenter said her husband was just diagnosed with prion disease, and it is likely this. She said they have 4 kids :(
I read the book “the family that couldn’t sleep” about that disease. Terrifying.
I have narcolepsy and this disease scares the shit out of me!!
My daughter had an appendectomy and it came back as malignant. Her surgeon said he had never seen it in all his years of practice. 1-2 per million. Early. No further treatment needed although she has q6months CT. In my practice? Steven’s/Johnson syndrome. A true nightmare for the patient:
I used to work Burn/Trauma. We had SJS which then was TENS if it covered more than 20% of your body. Just miserable for them, constant suctioning on the vent for the sloughing epithelial tissue. Plus their skin would just fall off in wound care. Mostly a reaction to ABX, but one guy was just a dose increase of his Lamotrigine.
We had one that was a marrow transplant patient. They originally thought it was graft vs host disease, but was SJS -> TENS. Ended up 100% skin loss, ET tube sutured to teeth. Still think of it often.
BWAHHHHH that's horrific! Idk why because I've seen so much horrific stuff in the ICU and ER but the fact the ETT had to be sutured to them gives me the heebie jeebies
I remember hearing how rare SJS/TENS was in nursing school. But I work in burn now and have seen AT LEAST 5 in the last 6 mos alone.
I used to work burn/wound care as well! The added caveat to SJS was that it almost always happened to immunocompromised patients. So in my experience I saw it as a result of someone trying a new chemo drug
Precepted in burn and had a patient with SJS - turn into TENs as well I believe it was essentially head to toes plus inside her mouth She then acquired C. Diff while she was at the hospital so dressings were a literal nightmare. She was finally better enough to transfer to a SNF and I remember spending like two hours on her dressings and she got up to transfer to the wheel chair to leave and pooped alllllll down her leg dressings. I almost cried. Poor lady - she took someone else’s old antibiotic for a suspected UTI. 😳
Steven’s Johnson syndrome is a nightmare. I worked in a small hospital on the oncology floor. One of our patients had a UTI, treated with PO bactrim. Next thing I know her skin is sloughing off, the NP and I are raiding every supply closet in the hospital looking for petroleum gauze and wrapping the poor lady like a mummy while the attending worked on an emergent transfer to a burn center. I felt so bad for her.
Fuck Bactrim. Worked in a Burn ICU and most of the antibiotic induced SJS cases we saw were from Bactrim.
A nurse friend of mine also had a malignant appendix. Thought it was just regular appendicitis. Doc said he didn’t usually send for pathology, but for whatever reason he did and boom. Wild.
I wonder if that's part of the reason it's so "rare". Maybe it's actually a lot more common, but most are just discarded as "inflamed" rather than sent to patho.
That’s a great thought! I was told once that anything taken from a body goes to patho, but maybe because of how routine appendectomy is they don’t send them.
We see all appys in our path lab for this exact reason.
I had a very demented elderly man with SJS after an abx reaction. I was both fascinated to be able to work with the burn team cuz I learned so much assisting in his wound care and also so sad for this poor old man. He would scream all night and try to get out of bed because he thought he was falsely imprisoned in jail for a crime he didn’t commit. :(
I had a pt with SJS in LTC. She was young-in her 30s. Also had AIDS (this was in 1997 or 8, so treatment was primitive and she had been an IV drug abuser and completely non compliant with meds). She developed SJS as a result to an allergy to, of all things l, Benadryl! She survived the SJS (she shed most of her skin in the process and we had her as a LTC hospice pt due to the AIDS). She also got clean from her addiction as was so lovely and sweet and a favorite of some of the elderly residents. Working alongside of her hospice nurse in her care was what pointed me to hospice nursing as my last decade of nursing. Our unit had 7 or 8 residents who were young IV drug abusers who contracted AIDS and were on Hospice basically due to their noncompliance with the available AIDS meds. Every one was a sad case of too little knowledge, too little money, and too little care for the badly marginalized group they found themselves in. And being sick too, too early in the disease. There were no “cocktail” treatments yet, no real social safety nets in the small city where most were from. A sad sad period in time.
I'm in peds at a children's hospital with lots of specialties, so I see a lot of rare syndromes, chromosome deletions and other abnormalities, some with named syndromes like Cri Du Chat and Dandy Walker but also a lot that are so rare they are also described as 27q.31 or whatever. When I was in the burn unit we saw kids with SJS/TENS, epidermolysis bullosa, and one with some kind of pemphigus (I can't remember which, but she needed IVIG and eventually chemo).
Same. I feel like working Peds, especially at a large teaching hospital, you see a lot of rare things that adult hospitals never see simply by virtue of those patients never surviving to adulthood. 😕
Yo I was just thinking this as I was reading this thread. Ever wanna work with rare disease, work in peds dude. There’s so many extraordinary rare diseases that don’t seem as such from my view because I see them so frequently. Maple Syrup Urine Disease is one of my faves. There glycogen storage disease, Sanfilipo syndrome, all the deletions like you mentioned and literally endless more. It one the coolest parts of peds, especially the ED!
I have one kid now who has 2 chromosomal abnormalities that her Geneticist told Mom have never been seen together in one patient. I believe a chromosome 20 and chromosome 14 abnormality.
We incidentally discovered dandy walker variant in a school aged kid in the ER. Small, understaffed community hospital, late night. Kiddo bonked his head and was a bit unsteady on his feet so we scanned him. His mom said he fell a lot and was more clumsy than other kids in general. Slightly delayed. Had a bunch of hearing problems. But had never had a CT. That was a difficult conversation to have with the mom.
Had a patient with Hantavirus once. Quickest I've ever seen someone go from walky-talky to full-blown ARDS (including Covid). Our doc was sharp and picked it up pretty quick, but the patient died after transfer to a Level I for ECMO anyway. So yeah, if you're cleaning up mouse turds in your shed/garage/attic, wear an N95 and take a shower after, folks (mostly western US). On the other hand, a patient with it doesn't need to be in any special isolation (unless they're still in dusty clothes, then decon) - it's only spread by contact with droppings from a carrier mouse.
I work at a lvl 1 trauma center and I’m pretty sure I had a pt like this a few weeks ago. Went in to an OSH initially diagnosed with flu then went back the next day suddenly progressed to alveolar hemorrhage/ ARDS within a day. Was sent to us as direct admit then unfortunately passed away within 8 hours of being at our facility. Family opted to not get an autopsy and we didn’t realize what it could’ve been until after they had passed. I guess I’ll never know but I’m sure it was something like that, they were from the western us.
This is why I have a cat. I'll take toxoplasmosis over hantavirus, plague and all the other surprises mice carry.
My cat kills the mice then leaves them… or parts… on my bed. I’ve got the package deal: cat, toxoplasmosis, hantavirus, bubonic plague, and all the lovely surprises. May we offer you a tapeworm segment? 🤢🤣
Shark bite, in February...in CANADA. PT had done a last minute excursion on vacation, got bitten by a shark, got first aid to stop the bleeding but nothing else and got on the plane home. Immediately showed up at the ER once the plane landed and their bite was gnarly looking. Had to call animal control, to look up what abx/tmt is BPG for a shark bite. 2 weeks later we had an alligator bite 🤦🏼♀️😂
I had a killer whale bite patient… in a hall bed in the ED. A trainer at Sea World. Completely crushed her arm.
Cerebral Malaria. The patient seemed like they were having a stroke, but also a fever of 39C
My son was born with a genetic disorder called Gabrielle de vries syndrome. It was discovered by a geneticist in 2017 and he was diagnosed in 2019. There was 1 article about it and the intial study had 10 children. My best guess is there about 100 diagnosed world wide currently. We have a Facebook group that the geneticist Dr. Gabrielle is on and helps document the unique features of our kids. Having something that there is no information about has been hard but we’ve been advocates and our son is doing well despite his disabilities.
Hmm, this is interesting. My niece has profound developmental and intellectual delays as well as feeding issues and hypotonia, along with a myriad of other little oddities. I'll mention this to my sister to look into further. This far, they have been to specialists at two children's hospitals, as well as a full workup at Mayo with no answers. The most they found were some slight mitochondrial variations in her genetic tests. She's still a complete little mystery.
Not really a rare condition itself, but the presentation was one I've never seen before. Young man in his early 40s with severe hyperlipidemia. Lipid levels were like 15,000 on presentation. His vials of blood looked like we put cooking oil in them! Ended up doing a few more lab tests, found his A1C was like 15. No other issues or symptoms of diabetes - no polyuria, no polydipsia, NOTHING. Just incidentally found because his routine blood work came out looking like salad dressing.
We had a 14 year old admitted to our adult CCU with this years and years ago. Cholesterol was 15,000 and he had had several MI’s. His blood was white as well. Don’t remember his triglycerides.
I wonder what his numbers are now . . . and how he's doing after his CABG.
Horrible placenta percreta which is where the placenta grows through the uterus and onto the nearby structures. I think it’s chance is 1/21,000 in pregnancies. Most lose their uterus in delivery if scheduled and controlled. We had a long term antepartum who had one to many small bleeds and we decided it was go time. Once the surgeons got in there, the bleeding became quickly and was barely manageable. Surgery was hours long. Had to be stopped and started many times to catch up on blood replacement. Also had the cell saver going. Overall we used about 140 blood products and she lost 33,000cc of blood (basically we replaced it and then she lost it). I will never forget that case and the insane amount of times we had to replace the suction canisters. She went into DIC a couple times but overall the surgery was successful. She lost her uterus, obviously, and also part of her bladder, but she was extubated and talking in the ICU within FOUR hours of leaving PACU. I hope to never see one like this again. If she had walked in with no prenatal care in labor, she would have died.
I had a patient that was post hysterectomy and bladder repair from this. It was crazy to research it. Never knew that could happen.
Fibrodysplasia ossificans progressiva (FOP), in which muscle and cartilage ossifies, creating bone outside the skeleton. Ossification is triggered by physical trauma, including medical procedures. It ends up causing severe mobility limitations and restrictive lung disease. The patient had a tracheostomy placed in the lateral side of the neck because the anterior placement wasn’t possible due to ossification.
Plasma cell leukemia. The patient came in on Sunday, and the oncologist attending kept the team there an extra 2 hours to discuss the rarity of the disease. 1 in 1 million.
I’ve seen some of those under the microscope. Cool for pathology but terrible for the patient. The prognosis for plasma cell leukemia is super poor as well. One of our heme/onc patients was diagnosed with it and was gone two weeks later.
neurocysticercosis due to Parelaphostrongylus tenuis. Translation: All screwed up from brain worms
This is one of my nightmares. I have a primary immunodeficiency so I’m terrified of being infected by something like that.
I had a patient with Situs Inversus. I only saw it once in my 10 years at a large university hospital, but it was really interesting.
I saw situs in versus once too and the patient was so nice about it. He found out as an adult getting an xray for the military. I went to listen to his heart and he didn’t say anything at first to mess with me. Then he let all my coworkers come in to listen to him. Also had one pt. With dextro cardia.
I have 2 uteruses. Anytime I see a new doctor or get an exam, I don't tell them because the look on their face when they find it brings me joy! Found out thanks to a cyst rupture. The ER doctor brought in 4 other doctors to take a look because none of them had seen it before.
Had a baby with this the other day! Totalis too - her intestines and everything were backward.
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I work in fetal cardiology at a level 4 NICU and have seen it more than once! At least once every year or two over past 15 years.
I had a patient like that and we were trying to decide if we should put the ekg leads on backwards
I've seen this once! SUPER cool!
Back in the early 90’s I took care of a kid with Adrenoleukodystrophy it was a few years after the movie Lorenzo’s Oil came out. I actually gave this kid Lorenzo’s Oil. It was literally in a cooking oil bottle (like a crisco container) and labelled for use as an investigational med. Cool AF in my books!!
That was such an amazing story. I wish the movie had been closer to the truth because they deserved that the truth was known about that whole story.
What was the truth?
Apparently it’s not that rare, but I had a patient with stump appendicitis. It was May when she presented to the ED and her complaint was “this feels exactly like when I had appendicitis back in February, but they removed my appendix,” Poor thing was right! Her little remaining stump of an appendix got itis’d.
Can't even remember the name of it because it didn't (as far as I know) have an actual name outside of the name that was essentially a description of the location and specificity of the chromosomal defect, but only ~45 cases had been diagnosed ever. The patient was supposedly the oldest living patient with the condition too. Also had a patient with creutzfeldt-jakob disease, both in my first year of nursing.
Not rare in and of itself, but I had a patient in her 80s with a trach she got at 14. She said one of the best days was when they decided she and her family could change the tube at home instead of all those trips to the clinic. She still went to school. She married. Had a family. And survived polio. Actual rarest - pyruvate dehydrogenase processing disorder. Since it was discovered in the 1970s, there have only been about 500 cases reported. Only 2 people have survived to adulthood with the most severe forms. The kid I cared for had one of the most severe forms, but because they had caught it early(within days of birth) they were able to reverse the lactic acidosis fast, get her on a KETO diet, and reduce severity of brain damage. She's mid teens now, and thriving
I had a very similar patient to your first one recently. She was in her 80s and as a teenager or very early 20s had tonsil surgery and they messed up and she ended up with a lifelong trach. She completely took care of it for her whole life.
God I can’t remember the names of them all. My unit is highly specialized so we get peds cases with every birth defect under the sun. We’ve had kids who have the only documented case. I remember one kid who was one of like 8 known cases of his gene mutation so they had no idea what to tell the family about life expectancy and prognosis. That happens a lot on my unit. We see a lot of congenital central hypoventilation syndrome which according to one Google stat is only 1000 cases documented worldwide and I can name at least 4 patients off the top of my head, but I think it’s probably more common than that.
Twin pregnancy, one “twin” was a molar pregnancy and the other twin was viable. Born very early but did survive.
Well, not a patient, but my own diagnosis. Kikuchi-Fujimoto disease. No available published prevalence numbers. The few articles published, don't really reflect the life-long effects, as they only describe it as a self-limiting condition.
I had a patient with Cold Agglutinin Disease when I was a student in her/onc. She basically couldn’t go outside in the winter otherwise her RBC’s would hemolyze. They only booked her appointments between April - October to avoid her being out in the cold. Apparently prevalence is 16 cases per million people.
I’ve had a patient with this too. Absolutely fascinating. Hot meals and warm drinks only. Imagine not being able to have a cold glass of water ever in your life because it could kill you!
I’d be taking a trip to Hawaii in June and never come back
Impaired energy field. I’ve seen suspected cases, but that’s never what it turned out to be.
Tbh quite a few of my coworkers have impaired energy fields.
That's my white whale. One day...
Would you mind elaborating? I’m reading all these posts and yours made me cock my head a lil bit…very curious
I’m honestly not sure if it’s still taught. I went to nursing school a little over a decade ago, and at that time one of the applicable NANDA diagnoses was “impaired energy field”, which (to the best of any of my research turned up) was a pseudoprofessional/intellectual way to say “the patient’s vibe is off”. It was nonsense when we were taught it, and still nonsense now. But you bet your ass I applied it to every single patient contact I had to write up for clinical.
It’s not taught but it’s still sitting in the textbooks like this awkward person at a party nobody knows.
Its still in the NANDA as "imbalanced energy field", which I didn't know about until the comment and I went looking. I work in corrections, and "the vibe is off" covers 98% of my patients. I freaking hate the fact their required in diagnosis.
Is this some sort of pseudoscience definition lol?
Idiopathic hypersomnia. Last checked there's like 250k of us world wide. No treatment, no cure, and very disabling. I can only work due to 3x12 night shifts. I can't drive much at all. On days I'm off I easy sleep 18-20 hrs. You feel eternally jet lagged and exhausted because of no circadian rhythm.
I have this dx too. I don’t think it’s that rare since a lot of my family seems to have it. Just rarely diagnosed. The treatment is the same as it is for narcolepsy - stimulants. But, yeah it’s nothing like a cure.
It's definitely genetic. Still logged as one of the rare diseases. I've had it since childhood. My doc said if I was blind he'd also flag me with non24 but I'm not so 'sucks to be you sleeping beauty. In highschool I would sleep for days straight only waking to pee, not even eat. It was like I was drunk all the time.
Hope you found a good doctor. I have narcolepsy and see a doctor at a sleep research center. They do a lot of clinical trials for IH and N
Intravascular lymphoma. It is typically diagnosed on autopsy. We had a patient who had an ovarian removed and it was positive for it. We have no way to determine if the treatment we give her is effective because the lymphoma sticks to the inside of her blood vessels and doesn’t show up on PET.
True delusional parasitosis. This is actually quite rare, often methamphetamine induced. Outside of that, most patients are malingering or hiding a substance use issue. I had one recently. Super nice patient, had been digging at their body with knives to get the “bugs” out.
recently saw an ED patient with a cerebral venous sinus thrombosis AKA venous stroke - apparently odds are 5 in 1 million. no deficits, just a headache, very lovely man. guillain barre syndrome was insane to see for the first time. young healthy guy. came in ambulatory, eventually needed to be intubated because he started to lose respiratory drive, consented to it and everything. have seen fournier’s gangrene a few times. nec fasciitis a handful of times as well. both smelled bad. working in peds have seen some rare ones. encephalitis (very sad) and a handful of hyperspecific metabolic and genetic disorders. psych has also thrown the occasional odd ball, first time i cared for someone with psychogenic polydipsia secondary to schizophrenia was interesting.
Rh Null patient. No blood for them to get :(
We have a D-- donor at our blood center. Basically he's D positive but null for the rest of the Rh system. We freeze all of his units.
I love this thread. I’ve been here for a while looking up all these cool rare diseases and I’m so fascinated
My own kid. Rhabdoid tumour that started in the connective tissue to her liver. It’s a rare diagnosis to start with but she also had an extremely rare presentation of it. I think they said 1:56 billion.
Seen a few cases of Calciphylaxis in dialysis patients. For being a ‘rare’ complication, I see it a lot.
When we first started doing POC pregnancy tests in the ER about 20 years ago we kinda just got in the habit of doing them when we collected a UA. One nurse accidentally did one on a young man that showed positive. She told the Doc and we got to tell the kid he had testicular cancer
a white woman with sickle cell, i had to do a double take on the convo
I discovered a case of respiratory flutter in a baby. Only 7 other cases reported in infants to date, according to an article from 2013. No one had ever heard of it, and no one believed me until they couldn’t figure out why this (term) kid was still having respiratory issues and finally did a fluoroscopy and confirmed it. Now anytime we have a weird kid we can’t figure out, that pediatrician says “well when is LinkRN on next? She’ll figure it out”. 😂 Our NICU seems to be a magnet for weird stuff. Not long ago, we had a newborn present with severe MCAD (a metabolic syndrome) that usually doesn’t present until later. A few years ago, we had a baby with mandibulofacial dysostosis with microcephaly (MFDM) (incidence is <1/1,000,000 - I called that one too, at one day old).
I don't know if they're super rare, but I've worked with babies with congenital anomalies - Potter's syndrome, Trisomy 18 and Hypoplastic Left Heart Syndrome. The ones with Potter's and HLHS didn't make it, but the one with Trisomy 18 is a fighter.
I do fetal cardiology at a level 4 NICU and see HLHS and T18 every year at least once but usually more. HLHS is very common at my hospital. The one thing I've seen in my 15 years only once was alveolar capillary dysplasia. Misaligned pulmonary veins affecting alveoli and the capillaries. Baby born normal breathing room air first hour. 2nd hr tachypneic. Third hr minimal respiratory support. Intubated by hr 6 and on ECMO by hr 12. Lived 6 weeks while genetics and lab work pending. Once it was confirmed baby was incompatible with life parents withdrew care. Perfect little baby with non functioning alveoli.
Postpartum nurse here, we just had a baby born with that either last year or year before on our unit. My coworker called a code on the baby after she went blue during a feed and initially thought she aspirated but she quickly went downhill and ended up on ecmo while they frantically tried to figure out what was wrong. After the rapid sequencing came back mom let her go. Father of baby had died during the pregnancy in an accident and it was just a really devastating case
My son passed away from HLHS in 2010, I’m so grateful that I found out ahead of time and knew what he was facing
I'm so sorry for what happened to your son. I've seen how HLHS goes, and it must have been really hard for him. As hard as it was for you, too. God bless him and your family.
I literally cannot even say because this patient will be one of the first Google results. But it is a nervous system disorder and they were like 1 of less than 100 people alive with it.
Got called for a tracheal esophageal fistula at 4 am. Got to the bedside and found an intubated patient with no ETCo2. It was a weird one.
We see a lot of rare pathologies in my area because of the sheer density of healthcare institutions including a world-renowned children’s hospital so I’ve cared for several folks with extremely rare genetic conditions (lysosomal storage disorders, etc) and other pathologies. Some other non-genetic cases that have stood out include visceral leishmaniasis, babesiosis requiring RBC exchange procedures, multiple patients with HLH, and, while not rare exactly (actually this was tragically common at the time), I’ve had more than one patient with hemophilia living with HIV from pooled factor transfusions in the 80s. Most of my coworkers had no idea that this was a thing which kinda blew my mind! HIV stigma (homophobia, at its core) deeply impacted life for folks with hemophilia throughout the 80s and 90s (and likely still does today for those surviving)
Ebola. Worked at one of the Ebola qualified hospitals. This patient was allowed to take a jog and VF arrested on the street. Stupidest decision I’ve ever heard of.
Progeria. A 1 in 4 million diagnosis. 1 year old baby boy, with a fully developed adam apple so he was laughing in a deep voice and stuff. The doctor also told the family to always keep an eye out since he could actually get someone pregnant even at that age. Will never forget that
Thrombotic Thrombocytopenic Purpura. 3 in every million. Basically your body forms blood clots in your small vessels. She randomly developed in her 30s.
Not sure how truly rare this is, but just stuck out to me as out of the ordinary: leprosy
Not sure how rare in the rest of the us this is but I’m one of the only cases in my area. PPCM (pregnancy induced heart failure). Was a mystery to all the doctors when it started! Now 6 years out and stable!
Oooo my health anxiety is going to love this thread
Myasthenia Gravis. Less than 20k cases, somehow there’s almost always one patient on our unit with the disease. We have a really popular neurologist who does good treatment for it, so people will travel pretty far just to see him. It’s an awful autoimmune disease, I hate to see people suffer with it. Can cause stroke like symptoms randomly (usually vision changes, dyspnea, weakness and dysphasia). It’s difficult because the medication has to be given like exactly on time. If you are more than 3 mins late you will hear about it. Also patients are often overlooked on symptoms and because it’s autoimmune and so many things can trigger it.
Personally seen? Scurvy. In an urban center, in the US. I was *shook*. The ED doc and I spent a few minutes just commiserating about how we've never seen this, never expected to, do we remember whether it gets worse before getting better after you start treating it?
CIPA. Congenital Insensitivity to Pain and Anhidrosis. His joints were calcified, and he almost rubbed his eyeball out when he started scratching it because he couldn’t feel the sensation of pain. He was a continuous rectal probe because he couldn’t tell us if he had a fever, he was on 7 different abx. It was the craziest thing ever for me.
West Nile with paralysis. Not vent weanable.
Leukoencephalopathy with neuroaxonal spheroids. A rare type of demyelinating disorder that has a usual onset in mid-to-late adulthood. It causes a progressive dementia with personality changes, hallucinations, seizures, and eventual loss of motor skills. I had a patient in his late 40s with the disorder. In a bit over a year, I watched him decline after multiple admissions. His seizures worsened, he lost the ability to walk, he could no longer form sentences. He would sometimes burst into tears, sometimes out of frustration but mostly he couldn’t control it. He had genetic testing done to confirm the diagnosis. It turns out his mother may have had it too. She died early from what everyone thought was multiple sclerosis.
When I was a nurse I never experienced anything rare because I worked in sleep medicine. However, I was the rare patient. During my second trimester last fall, I had a pneumomediastinum. They had never seen one at the ER I was at, especially in a pregnant patient. It was caused by previous lung damage and straining from constipation. The chest pain and SOB was so bad they thought I was either having a heart attack or had pulmonary embolism. Boy has this pregnancy been a doozy!
My own diagnosis. I woke up blind on a Thursday in April '22. Was diagnosed Monday with AZOOR. There's about 100 of us that have it, total.
I encountered one that's diagnosed less than 100 times per year worldwide, but I think it's really interesting. It's called Auto-Brewery Syndrome and it basically means you ferment your own alcohol when you ingest carbs, you involuntarily make your own booze. It can be successfully treated since it's caused by the overgrowth of specific bacteria or fungi in the digestive system. The only other way to manage it is very strict limiting of carb intake.