Doctors, What’s the Rarest Disease You’ve Encountered? Here’s What People Said.

If you tend to be a hypochondriac, these answers might freak you out a little bit…I thought I should probably throw that out there.

Are you ready to learn way more about diseases than you ever wanted to?

Doctors shared stories on AskReddit about the rarest diseases they’ve encountered.

Take a look.

“Rare and interesting would be Pentalogy of Cantrell which has the heart outside of the chest because the sternum has not fused.

Id seen it before with just a bit of the heart on view, but with this kid it was completely out: you could see pretty much the whole heart with the aorta and lung vessels all that was holding it, the heart just beating away.

I’d done adult cardiac for a bit but this was a little different. Tiny. We covered it with a polystyrene cup, until the kid went or theatre to have it pushed back inside.

It’s meant to be 1:65,000 live births.”

“Anti-NMDA receptor encephalitis. One in 1.5 million.

Psychotic symptoms (auditory or visual hallucinations, paranoia, delusions) due to an autoimmune disorder where your body produces antibodies against NMDA receptors in your brain.

We’ve seen 2 this past year at our hospital. The real incidence of this could be higher than one in 1.5m but might not be tested for often enough. Once someone gets labeled a “psych” patient, consideration of medical etiologies often goes out the window.”

“The rarest I’ve encountered is KID Syndrome (Keratitis Ichthyosis Deafness).

A 5 year old, very sweet, blind girl who literally had rough, thick, opaque skin on the surface of her eyes.”

“Pseudocyesis or hysterical pregnancy, in a woman who was an inmate in the psych wing of a prison I rotated through.

She thought she was pregnant with Jesus’s triplets and had grown a massive pregnant looking belly, was producing milk, etc.”

“Gorham’s disease, aka vanishing skull syndrome.

A softball size area of my patient’s skull disappeared and left behind a soft spot.

She ended up with a plastic plate to protect her brain. Crazy disease.”

“We had a patient once, a young girl, who was so sick that it broke our data analysis pipeline.

When the code ingested a genome sequencing sample, it attempted to detect the chromosomal s** of the patient. It was using two metrics: the sample was considered female if it (1) lacked Y chromosome, and (2) was heterozygous on X chromosome, implying there were two copies of it. Otherwise the sample was considered male.

This one sample registered as female on metric 1 (no Y chromosome) but male on metric 2 (very little heterozygocity on X chromosome), which was not anticipated and resulted in our pipeline crashing.

Upon investigation, it turned out that the parents of that poor girl were brother and sister to each other. As a result, she had very little genetic variation throughout her genome, not just X chromosome, and was consequently very sick, with a plethora of diseases typical for consanguineous births.”

“Harlequin ichthyosis.

In med school there was a baby born with this. Basically their skin scales up an peels removing that very important barrier so kids born with this don’t live long.

She was just a couple months old and had not yet left the hospital since birth.”

“Fibrodysplasia ossificans progressiva (FOP).

A disease that calcifies soft tissue and turns it into bone. When I was a medical student our group’s cadaver had this disease. During dissections we sometimes would get poked by spiky pieces of bone in random areas of her body.

Also had a spine that resembled a small turtle shell.”

“Em coup de Sabre.

It’s a rare form of scleroderma that makes your skin looks like you’ve been cut by a knife down the center of your face.

This poor lady’s mandible actually split in half.”

“I saw a 4-5 year old patient with Lesch Nyhan Syndrome on my peds rotation in med school. It’s an X-linked recessive disease that a quick Google search tells me affects about 1 in every 400,000 individuals.

It’s due to a mutation in an enzyme involved with DNA recycling. The thing all med students remember about it is for whatever reason these patients have a tendency to self-mutilate. My specific patient had to have a procedure to have all his teeth removed because he would terribly bite his arms unless he was physically restrained.

I believe he had an older brother that went through the same ordeal. So sad, but definitely one of the more memorable cases from med school.”

“Walking corpse syndrome – cotard delusion. 17 years in mental health and I’ve seen it once.

The belief that some or all of you is d**d. The guy was so certain he was d**d he believed he was a zombie.”

“Brazilian doc here.

I live in a really poor part of an already poor country. When I was in my pediatric internship there was this baby wiith hepatomegaly (big liver). In my region, the first thing that you have to think about in this cases is a disease called Kala-Azar (also known as black fever or visceral leishmaniosis).

It is an endemic disease which there is a parasite transmitted by a mosquito that can infect people with compromised immune system (like people living with HIV) and kids.

This parasite infects the bone marrow and simulates clinical signs of acute leukemia, like chronic fever, spontaneous bruises and bleeding. The patient develops anemia, leukopenia (low white blood cells) and low platelets.

To compensate, some organs like liver and spleen take care of the bone marrow function to create new blood cells, and thus, get bigger. This disease is really common in my region, but really rare in other parts, especially non-tropical countries like the US.

Anyway, as I was saying, this baby girl, about 1 year old was admitted to investigate a hepatomegaly. But the catch was that she kept having those episodes of hypoactivity and sleepiness, and sometimes even faintings that would then get better after she was being breastfed.

We then checked and saw that she was having lots of hypoglycemia episodes. Her lab was normal, and she had no other clinical signs that would remind of kala-azar, besides the hepatomegaly.

The patient had Hers Disease, a genetic disorder that makes you produce less Glycogen due to an enzyme defect. Never hear of it before meeting this patient, and I think I’ll never will meet other one.

Interestingly enough, in this same time, I had a patient that was admitted with leukopenia, anemia and low platelets that was also hospitalized to rule out Kala-Azar, but he actually had Fanconi Anemia, an also really rare genetic disease.

In this one, the bone marrow slowly stops producing blood cells. Besides this, the patient also has kidney, facial, bones malformation and overall physical underdevelopment.”

Do you know about any rare diseases that most people aren’t familiar with?

If so, please tell us all about them in the comments.

Thanks a lot!

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