Water allergy, Foreign accent syndrome, Laughing Death, Alice in Wonderland syndrome. These are just some of the rarest illnesses in the world. But trust me, the list is much longer and it grows daily.
When these 15 patients went to the doctor with their symptoms, some docs had no idea what to tell them and in one case just thought it was the flu. In another case, they STILL don’t know what is wrong, except the patient should be dead, but she isn’t. Read their stories and be prepared for your own rare prognosis one day.
1. Double whammy
I thought I was having a Crohn’s flair up, so I went to see my gastroenterologist who proceeded to diagnose me with Rocky Mountain Spotted Fever. He started me on treatments and when the results came back from the blood work he was correct.
He also diagnosed me with Crohn’s Disease, so I owe him doubly.
2. 3 weeks to crazy
We had a patient with Creutzfeld-Jakob once when I was in medical school. It’s an extremely rare prion disease similar to mad cow disease.
I can’t say too much because of HIPPA, but basically this normal lady was found in her home and had drawn all over the walls and started fires and hadn’t bathed in weeks. She essentially developed dementia over the period of three weeks with very bizarre symptoms.
She had EEG findings consistent with CJD and eventually we found out a couple months earlier she had had a surgical procedure at a small hospital where we assume her contact with the disease was.
3. Only 5 Ever
I’m not a doctor, but my wife’s oncologist was baffled and put her symptoms out on a network of oncologists, and about a week later a doctor at UCLA figured it out. It’s pretty rare – post-meopausal pure choriocarcinoma – there were only 5 previously known cases. Diagnoss was confirmed by Dr. Lawrence Einhorn of Indiana University, probably the world expert in choriocarcinoma. He directed her treatment after that, and kept her alive for three more years.
The sole symptom was a high level of beta-hcg, and none of the doctors put the puzzle together because it’s so rare at her age.
My Dad was diagnosed with a rare parasite. He had holes in his brain and the doctor told him he must have eaten under cooked pork whilst he was out in Sri Lanka as that’s how you get infected. It’s a rare condition and there’s only one or two cases a year here in the UK. The doctor wanted to write a paper about my Dad.
They did some more tests after that and nope, no rare parasite, just cancer. That started in his kidneys and worked its way up to his brain. Yeah he didn’t live for long after that.
5. Rarely survive
I’m not a doctor but my son has pretty nasty pulmonary hypertension that they really had never seen before and no doctors around the world had either . His chances of survival were one in a million and now he is the eldest child to have survived anything like it. He was in end stage and slowly pressure decreased and everyone was shocked.
He also has cardiomyopathy, aortic stenosis,mitral. Stenosis and a few other weird things happening.
But how it went with his PH everyone is baffled and I’ve never been more ecstatic.
6. I Hope you don’t like mushrooms toomuch
A year ago I developed a pinprick looking rash all over my torso and limbs. It was really itchy and the strangest thing was it was shaped like whip marks so I had to explain that I wasn’t being abused. It took a couple weeks and several doctors before I was diagnosed with Flagellate shitake mushroom dermatitis , a freaky reaction to raw mushrooms. I was the first case my dermatologist ever saw.
7. Ehhh, not that one
I am not a doctor, and have never worked in any related field of work. I was sick for 3 years, a year and a half in I had the mostly likely suspect figured out.
I had been to a couple of family doctors, an infectious disease specialist, and a couple of neurologists. All of them kept applying labels to my illness that didn’t seem to fit.
I did my own research on line and concluded that the only reasonable explanation was Primary Progressive Multiple Sclerosis, but no doctor seemed willing to listen or order the tests to confirm it.
After my second neurologist displayed what I viewed was a level of incompetence similar to my first I asked for a referral to a real doctor. I was given one to a hospital with MS experts and they confirmed my diagnosis by tests that the other neurologists had proclaimed were neither needed or necessary.
8. Keep it coming
Probably the strangest day my doctor ever had at work:
I was the second scheduled appointment of the day. I had to wait 45 minutes. Something was going on in the office…
I finally saw the doc and showed him a rash I had. I said, please tell me this isn’t shingles. He took one look and said sorry, it’s shingles. HOW old are you? (34 at the time)
“My first patient had tuberculosis. He hadn’t been to a foreign country. I just got off the phone with the CDC. This is a REALLY weird day.”
TB is somewhat rare in the US, but this guy had no traceable reason for contracting it.
Shingles is very common among older people, but at the time, 15 years ago, it was rare for a middle aged healthy woman to have it. It’s become fairly common since the chicken pox vaccine came out.
I told him his day could get weirder. It was only 10am.
9. Not rare, but rare
I was diagnosed as having a lack of Stereognosis when I was very young. It’s not a super rare diagnosis, but it’s rare outside of elderly people or those who have suffered brain injuries. I was born very premature, which is the reason.
You’ll likely not notice anything unless you watch me do something like tie my shoes, hold a pencil, holding knife/fork etc.
10. So odd
This case may have been in your local paper six years ago. Sadly, I don’t really have a diagnosis for you.
I once had a patient that came in complaining about their fever. The nurse took her temperature, but she was within normal limits. She kept saying the air was getting hotter. It was late October, and we were in a hospital, so it most certainly wasn’t the air.
She described it as “like stepping into sunlight from the shadows”. Now we we’re thinking hot flashes. The woman was 27 years old. I asked about her family history and such, trying to figure out where to start. She wasn’t giving me very good answers, mostly talking about where she spent her summers as a child. A change in her behavior added psychological problems to my list of possible causes. I wanted to do an ultrasound and realized that she was cold to the touch. Her body temperature had dropped five degrees in the last fifteen minutes. Her heart was racing, and she started to panic.
She was going from bad to worse faster than we could help her. She started vomiting everywhere, she was pale, but also blue. You could see she was freezing. Her body temperature kept dropping faster than we could help her. I had never seen anything like it. I had never even heard of such a violent drop. We tried to warm her up, but we couldn’t. We used everything we had for hypothermia. We caused mild burns on her legs in our desperation. Her heart wasn’t racing anymore. She was calm. If you’d asked me, by glance I would have told you she’s been dead for a while.
By the time we moved her back on the hospital bed, she was hard to move. She couldn’t speak anymore. She looked dead. To my extent of knowledge, she should have been. She was beyond severely hypothermic, but she kept going, and she kept getting colder.
We couldn’t heat her up without burning her. We were just monitoring this.. slow but certain death. Our patient was freezing to death in room temperature. Every single one of my colleagues wanted to see.
She didn’t die. She should have, but she didn’t. She’s still in the long term ward, with a steady core temperature and no respirator. Her heart still beats a couple of times every minute. If she looked dead before, you can imagine what she looks like today.
She still turns her eyes to look at me when I visit, if I stay long enough.
11. That’s a lot
I have been diagnosed with the following: Rheumatoid Arthritis, Dermatomycitis, Lupus, Sclaraderma, and Raynaudes Phenomena.
It took close to a year for a myriad of doctors to solve all my symptoms. I had more blood drawn than I thought possible, and was subject to multiple studies from doctors all around the world. Everyone thought I would die within a couple of years, since this cluster of diseases is extremely uncommon (Which led to some interesting family decisions, people getting married early so I could be there, trips we wouldn’t have otherwise taken, etc..). After 10 years of steroids, chemo, NIH studies, conferences, they declared I am in remission.
It’s been a crazy journey.
12. Genetic mutation – or…STD?
I was diagnosed with Reiters Syndrome. It affects random joints. Last year my knee was the size of a volleyball, now my shoulder, hip and jaw hurt like hell. I had a gene test come up positive think it was b-27, which makes me more susceptible, and the Doc thinks it could have been food poisoning as STD tests came back in the neg.
13. Study this guy
Not a doctor but a patient, I was diagnosed with chronic Tietze syndrome (which is classified as a rare disease). It won’t kill me but it gives me every now and then an excruciating pain in my chest which apparently is on a level with the pain someone has just before a heart failure. Except that my heart is just fine and the pain comes and goes and makes respiration and sports hard.
Also no one knows much about it, even specialists.
14. Might have
When I was in grade school, I had something called Erlichiosis, which is transmitted by ticks and infects about 0.7 cases per million people each year. It mimics flu symptoms pretty well, so my doctors thought I had the flu, then strep, then mono, but all the tests came back negative.
After about 3 weeks of being sick, my doctor was like “you know, I heard about this in med school once. Let’s test for it.” It’s a bacterial infection, and was treated with a stupid long dose of antibiotics (more than 2 weeks worth of pills).
For sake of comparison, Lyme disease, also transmitted by ticks, infects about 1000 per million each year in the US. I might’ve spent too much time in the woods growing up.
15. He showed you, Doc
Well, one of my patients – Stephen – came to me with completely broken / paralyzed hands after a car accident. I couldn’t really help him, but he insisted that it HAD to be possible to fix his hands so he could continue his work in the medical industry. I told him it was impossible and that there was no way known to man that would give him his hands back. He was devastated – but then said goodbye and I didn’t hear from him for several years, until recently.
He had been traveling around the East and had met an old person who had cured his hands. I was absolutely dumbfounded. It should not have been possible! I have seen a lot of weird and rare stuff, but this was strange….