There's the common cold. There's cancer. And then there's familial cold urticaria. What is that? Well, it is something you do not see someone diagnosed with everyday.
Sometimes doctors are just as befuddled by a person's symptoms as the patient is, because, frankly, they, and most doctors alike, have never seen them before. It is as if a person has a 1 in 1 million chance of receiving such a diagnosis. The following stories, found on Reddit and edited for clarity, come from those who were that 1 in 1 million patient, afflicted with an illness or medical condition that makes them stand out among the rest.
"One day, there was a sudden windstorm while I was in an open parking lot on the outskirts of a city. A leaf flew right into my eye and it immediately started to hurt. I somehow drove home even though my eye was killing me. I washed it a few times - didn't work. I started to feel movement inside my eye, but couldn't see anything in the mirror. I freaked out and started gently poking around in my eye with my index finger. A tiny little dot came out and moved a little on the tip of my finger...
I ran to my mom, showed her, and she couldn't see anything. To be honest, it was so freaking tiny and barely moved! It hurt for an hour and I had found two more tiny moving freaks from my eye. I was convinced I wasn't just 'seeing things.' Then, finally, my mom took me to an eye surgeon. I went in as an emergency. The doc examined and rushed me to an OR saying I had living micro-organisms inside my eye. It took about 20 minutes and they removed all FOURTEEN of them. ALIVE! I got a patch like a pirate that I had to wear for a few days.
I never knew what the bugs in my eye were, nor did the doctor. It was his private eye clinic with no other research departments. The bugs were, like, the most translucent, tiniest micro-organism - almost imperceptible to the naked eye. I could look at them based on their tiny movements that I felt. They looked closer to larvae. Doc said he'd never seen anything like it in his 25 years of experience and that I was a one in a million case. They were just on the surface of my eyes. They hadn't penetrated the cornea yet, which was almost a sure possibility if a day would have gone by. I would have needed a surgery then with a high risk of permanent blindness."
"During a sleep study when I was little, after I had had sleeping problems, they discovered I'm basically a zombie.
I have insomnia and have trouble getting to sleep, but when I do finally get to sleep, I don't wake up easily. This is because, when I do sleep, everything shuts off. My heart stopped, brain activity dropped to next to nothing, I didn't move or breathe at all. They had to wake me up several times and the doctor said they couldn't figure out what was going on. Finally, they let me sleep and I stayed in a state of near death for two hours, then woke up just fine.
This still happens to me and, as a result, I don't have dreams or a sense of time passing when I sleep. I fall asleep and I wake up instantly, from my perspective. This has lead to even more sleep issues and brain problems, as well as random pains, heart palpitations and muscle spasms, and there's basically nothing anyone can do because they don't know what's going on with me. I've also survived entire weeks without sleeping and managed to not completely lose my mind... Not completely, anyways.
I nearly died. I couldn't really keep myself up enough to keep running around and being energetic after the first six days. Everything was just a blur of colors and I couldn't feel my own body at all. I don't really remember anything past eight days and what I do remember I've suppressed a lot because it was just too creepy. Hallucinations from lack of sleep produce some scary stuff sometimes - giant insects crawling on the ceiling that took up the entire room with limbs, most of my food became some sort of living animal that I couldn't bring myself to eat, like a snake in a salad made of scorpions or noodles made of earthworms trying to escape my bowl. The worst part was wanting to sleep so bad, but also being too scared to even go near my bed. Even if I hadn't had insomnia, I still wouldn't have been able to sleep because I was terrified of everything. So, yeah, they were probably tired of the screaming.
It still sucks I can't dream. I miss dreams. Every now and then, maybe once or twice a year, I'll have an actual dream when I'm half asleep if I really focus on it, but that's rare."
"We lived in Jacksonville, Florida. My wife rarely gets sick, but has mild insomnia. One Wednesday, she had a low fever and complained of aches and sweats at night and trouble sleeping. That weekend, she wanted to see the doctor. I told her she probably had the flu, just wasn't used to the aches, and she always has trouble sleeping. But, if she was still feeling bad Sunday, we would go to a clinic.
Saturday night, she couldn't sleep, so we made an appointment for Sunday afternoon. But, on our way there, sure enough, she was feeling better. The doctor checked her out. She was feeling fine now - no fever. He said she probably had meningitis, but was recovering. I was due to go on a business trip to California the next day and I asked him if he thought it was fine I went. He said, 'Yeah, no problem.' That evening, my wife was eating and laughing and all was good.
Monday morning, I left early. That afternoon, my neighbor called, and let me know my wife was wandering in the street in a delirium. My wife didn't know where she was, so the neighbor drove her to the ER. I booked a flight home that night.
The hospital checked her out. She had a fever, her blood cell count was in the basement, and she was completely out of it mentally. They were not sure what was wrong, and a bunch of specialists started descending on her. I had to fill out a bunch of paperwork on her medical history, where we've been, and all other sorts of questions. They thought, maybe, it was some weird auto-immune disorder - not good. She got a bunch of transfusions and was put on a mixture of meds while they figured it out.
Third day in the hospital, the infectious disease guy came in. Blood parasite, maybe tick born, he said. She had been to the Midwest recently and could have caught it if she went walking in the woods or a park. Next day, he came in and figured out the parasite.
'Why didn't you tell me she left the country?' he asked.
'Huh?' I asked back. 'She hasn't...'
'Well, she has malaria.'
'Malaria? I thought you couldn't get that in the U.S.'
'You can't. You need to go home and bring me her passport.'
I retrieved her passport. Someone from the CDC came and did a whole case study on her which pretty much concluded that they couldn't find the source of the malaria. Mosquito traps were set up around the neighborhood, mysterious vans started driving by spewing clouds of stuff.
My wife stayed in the ICU for a week, but recovered just fine."
"I am a 19-year-old male. Once, I was driving with my sister when, suddenly, her face turned cold.
'Gavin, your eyes are yellow,' I remember her saying. I quickly pulled down the passenger's mirror and, to my horror, two yellow eyes radiated back at me. It was so strange, my eyes turned yellow over the course of a day. I was terrified.
I spent a month being sick. The initial diagnosis was Hepatitis A. I went back to the doctor and nothing was better. Things were worse, in fact. I was sent to the ER, then to the liver transplant unit at UCSF. By that point, my eyes had turned muddy orange, and my pee was the color of... a mahogany tree.
Anyways, the team of liver doctors at UCSF managed to save my liver. I was diagnosed with autoimmune hepatitis. I apparently have the more aggressive form of this disease (lost 20% of my liver before they figured out my diagnosis) and the road to complete recovery is a very long one. According to my doctors, the liver is your most regenerative organ, so it will hopefully be normal again someday. One kinda cool thing is that some of my liver samples got sent to the Mayo Clinic, and I have a totally new perspective of my life and health in general.
Oh, and my eyes are white again."
"My other half's family, including he and our son, almost all have Von Willebrand disease (a bleeding disorder caused by low levels of clotting protein in the blood). Most have type 1, but his aunt and uncle both have type 2 and, unfortunately, have given birth to a little girl with type 3. While Von Willebrand is not uncommon, type 3 is incredibly rare.
Her blood completely lacks factors needed for clotting, so it was said she will bleed continuously without desmopressin. Her case is incredibly severe, and everyone is nervous for when she starts menstruation. Some specialists have said there is a real chance that when she starts her period, she could bleed to death.
She once bled continuously for 14 hours after an injection while suffering from pneumonia. At this point, she was diagnosed. She was only 2. Her diagnosis led to the family wide diagnosis."
"I have a rare autoimmune disease: familial cold urticaria. Meaning, I am allergic to the cold. Yes, the temperature and not the virus. And my version is one that is handed down through genetics. As I understand it, most with cold urticaria just 'get it' one day, with no real connections to family.
My grandmother had it, my mother had it, and so do I. It's a weird inheritance, considering my grandmother came over from Latvia, though she herself was Russian. How the heck she went through winter, I'll never know. I just wish people would stop looking at me like I'm a princess when I complain about the cold. Like, do you think I enjoy room temperature drinks year round?"
"I have a hypersensitivity to dextromethorphan. That’s the active ingredient in cough syrup. I’ve never been one to experiment with substances. I never liked smoking pot or drinking and there is a long history of addiction in my family. I pretty much said 'Forget that stuff' from an early age. My friends, on the other hand...
I was around 18 when my buddies started 'robotripping' on a consistent basis. For the uninitiated, you drink a bottle of Robitussin and trip your balls off for six hours. Anyways, my friends did this CONSTANTLY for months and they always bugged me to join in. There were months and months of peer pressure until I finally caved. I agreed to do it one time as long as they shut up and didn’t ask me to do anything with them ever again.
On a Friday, I went to a buddy's house and drank a bottle of this disgusting liquid. I sat around for an hour or two wondering if anything would happen or if I was just going to feel nauseous for the rest of the night. BAM! I was rolling around on the floor in complete confusion. BAM! I saw my buddy in the corner staring at the ceiling. BAM! I was in a recliner, begging for sleep so this terrible feeling would go away.
I woke up the next day and sat there for a minute, confused. It was like trying to think through pudding. I really needed to use the bathroom, but my legs wouldn’t respond. I was further confused. I slid my way out of the chair and army crawled to the bathroom. I slowly pulled myself up onto the toilet, finished, and army crawled back to the chair. I woke up sometime later at the prodding of my buddies. I was still extremely groggy and unfocused but asked for help standing up. I could not stand up on my own. While my friends found it hilarious, I was getting more and more concerned. What was going on?
Later on, a doctor would tell me of this hypersensitivity that a small percentage of people have. He would ALSO tell me that I had essentially overdosed. Me, the guy who never tried ANYTHING, had overdosed and my hoodlum friends had not. This 'high' I had subjected myself to had lasted for AN ENTIRE WEEK.
A few highlights of my idiot self while under the influence of freaking cough syrup - I drove even though I could barely walk, let alone function. I went to a job interview. I was offered the job but turned it down and scolded the employer for offering me part time hours. I got the gig full time a little later. A few days into this, I stalked around the house with a letter opener hunting vampires while making REALLY weird noises. I’m glad I didn’t stab anyone. I laid under the bushes out in front of the house for a few hours while it rained. When asked what I was doing, I replied 'Hiding from Charlie.'
I unknowingly, and without consent, had my hand up a 15-year-old girl's shirt. Said girl had a huge crush on 18-year-old me. She had been pursuing me for sometime up until that point. Like, getting on top of me while I was sleeping over at a friends house and trying to hold me down while grinding on me. It was messed up. During the Super Bowl party, she ended up sitting next to me. As I was only able to focus on one thing, I didn’t notice. Commercials came on and my attention was drawn to where my hand was. I turned to see said girl with a huge smile on her face. I remove my hand and told her to go away. My friends laughed. The game came back on and I watched. Commercial break - same freaking thing. I BEGGED my friends to get this girl away from me, but they laughed because they’re freaking imbeciles. This continued throughout the game. It only ended when the girl I was seeing saw this transpiring at the Super Bowl party. She was there the whole time, but I didn’t notice. When we locked eyes, the anger in her face was enough to get me up and into my car. I drove home.
After SEVEN DAYS, I finally started to feel like myself again. Four days of pure insanity and three more of what felt like sleep walking. I tried to patch things up with the girl I was seeing, but she thought I was full of crap and I didn’t blame her. It was too stupid to be believable.
So yeah. I don’t take cough medicine anymore."
"When I was 14 years old, I woke up one day with heavy stomach cramps. We called the hospital and they told us that I probably had a stomach flu and should go to the doctor the following morning. After one of the worst nights ever vomiting and sleeping next to the toilet, we went to the doctor. I had a fever of 104°F and was aching a lot. The doctor told me I had to to go to ER and have it checked out because she thought my appendix was inflamed and causing the pain.
We went to the ER and I stayed in the hospital for about two weeks, but they couldn't find anything. They treated me with broad range antibiotics and, after two weeks, I was feeling a bit better and they told me to go home and recover. The night I got back from the hospital, I went to bed and started hallucinating that I lived in a retirement home and that pirates were coming to steal our food. So, I was flailing around trying to fend off pirates when my mother came in and asked what all the fuss was about. I told her what was going on and she looked at me like I had summoned a devil. She took my temperature and she instantly took me to the ER again. I had a 105.8°F fever.
When we went back to the hospital. I got treated immediately for inflammation and they did a wide range of tests again. They saw that something in my body was inflamed, but they couldn't find it. I stayed in the hospital for about two more weeks when they finally found what was going on. My appendix was inflamed and burst the night I was having the hallucinations, but on all the scans, they couldn't see my appendix. The doctor told me that if I came in two days later, I would have died because of the puss flowing in my body.
Apparently, there is a 1% chance of all the appendix cases that the appendix is so stretched out that they couldn't see it on the scans or that the area was so inflamed they didn't see it.
So, after staying on antibiotics for about two more weeks, they finally removed my appendix and all the pain was gone. I stayed in the hospital for over four weeks just because of my appendix and my bad luck on being that 1%. This is one of the craziest stories of my life. I'm doing much better now - 26 and I haven't had anything crazy happen to me after this. It's crazy that something so small can cause so much damage to the body."
"I’m allergic to water.
I have a very rare disease where my throat has cells that are not supposed to be there and when I have an allergic reaction, it swells below my windpipe so I can’t swallow spit, food, or liquid. If food gets stuck, I have to wait for the allergic reaction to dissipate or get it surgically removed while I have the sensation of chalking.
But, apparently, one thing I’m highly allergic to is chlorine, and small amounts of chlorine is in all public water and almost all bottle water (at least in the US), so I only drink brews, filtered water, or use a life straw."
"I have symmetric bilateral coloboma of the iris and retina! Essentially, my pupils are shaped like keyholes instead of circles. A single coloboma is pretty rare, double coloboma is even more rare, and double symmetrical... well, you get it.
My coloboma doesn't affect my eyesight too much, although I do have an astigmatism that gives me poor vision in general. I am very light sensitive because the pupil defect lets in about twice as much light as I would get through a 'healthy' pupil. But, I just get to wear cool shades a lot of the time! It is hard for me to see at night, when there are lights facing me (think headlights from oncoming traffic), but if there are no other light sources, I can see really well in the dark.
Because it is on my retina, too, I have a small blind spot in each eye. However, it is small enough that my brain basically fills it in, and I don't know where it actually is! The eye doctors thought I was blind for a long time, but I'm really lucky to have such good eyesight. I couldn't play contact sports as a kid, because there was a big risk of my retinas detaching. That hasn't been a concern since about age eight or so, and my eyes are good as can be (ish)!"
"I live in Florida. I am not outdoorsy but stinging things are everywhere. It is, in fact, the Australia of North America. I was so freakishly allergic to ant and bee venom as a child that a single sting from a single little common black ant put me into anaphylactic shock. Little black ants do, in fact, sting.
When my allergist was preparing to start immunotherapy for me, he found that the in-office lab equipment wasn't sensitive enough to measure the infinitesimally small amount of allergen with which to start my titration, so he had to send a sample of my blood to Johns Hopkins so that their lab could determine how much to give me. I did immunotherapy for several years to reach an immune response level at which it would be safe for me to basically exist in a non-frozen climate.
My parents would not move me to the frozen tundra to be a nomadic reindeer herder at my behest.
I'm good now. I've had a few run-ins with ants and wasps since my immunotherapy and my body didn't freak out and shut down, and research indicates that if it hasn't done that after this long, I'm probably safe for... maybe forever? I did some research a while back and found an academic paper that indicated that if I haven't had a reaction after so many years, the likelihood that I ever would again is vanishingly rare. I don't have EpiPens and I'm not overly afraid of ants or bees."
"I have completely unexplained hearing loss in my left ear. I had a cyst in it when I was 6 and the surgery to remove it and fix the ear was successful. When I was about 12, I woke up one morning with a killer headache and ear ringing and after three days it went away but so did my hearing. Doctors did multiple examinations and an MRI and they said it should be totally functional, it just isn't. One in a million case."