Health

Doctors Reveal The Rarest Disease Discovered in Their Patients

15. When Your Body Tries To Take Care Of Itself And Backfires The body is a little adaptable when it comes to certain things. It tries… Trista - October 11, 2021
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15. When Your Body Tries To Take Care Of Itself And Backfires

The body is a little adaptable when it comes to certain things. It tries to take care of itself as much as possible without outside help, but there are just some things that do require medical attention. According to LatrodectusGeometric, a patient’s body was trying to take care of a condition all by itself, but it only ended up making the patient worse. In fact, the patient could have died if he hadn’t gone to the emergency room that day. These things can and do happen. If you think you have a disease, even a rare one, don’t be afraid to say something to your doctor. It might make all the difference, like in this case.

“I had a gentleman who came into the emergency room with extreme fatigue and was found to have very little blood in his body. I asked him what his medical conditions were, and he told me he had polycythemia vera, which is a condition where the body makes TOO MUCH blood, the opposite. Eventually, we discovered that he did have polycythemia vera but had been slowly bleeding from an obscure GI bleed, a tiny blood vessel in his small intestine that would come in and out and bleed small amounts into his stool. In essence, his body was self-treating, having too much blood by doing its own bloodletting, for years.”

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14. Sometimes The Womb Is Not The Safest Place for a Developing Baby

Pregnant mothers are always worried about what they’re putting into their bodies, as it could harm their developing babies. But what they may not consider is that within the amniotic sac, a baby is dealing with secret battles of its own. Even though the sac is filled with fluid that is supposed to protect and provide nutrients to a baby, there are other things present that can end up damaging a child. That’s what FocusInTheNow had to deal with when they were in the delivery room with a pregnant woman.

“30-year-old African-American in active labor with about five family members around her. I am the pediatrician at the bedside, waiting for the baby to come out so I can examine him. He comes out, and all of his poor little distal limbs are severely disfigured or missing digits. It turns out he had intrauterine amniotic banding. Pieces of the amniotic sack get wrapped around limbs and digits. This causes strangulation of the blood flow and prevents development. The worst thing I have ever seen and has one in 1 million chance of happening. But mom took him in her arms and loved him all night long as if nothing was different about him.”

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13. Genetic Syndromes Can Cause Very Strange Results

Genes are meant to carry information that not only tells the body how to function but how to develop as well. They’re more than what makes a person look like their parents. They’re an essential part of how a developing body grows. One error and the entire process can be thrown into whack. This can lead to any number of genetic syndromes that there are no cures for. It comes down to manageability and making the person as comfortable as possible. urunu12345 explains one such syndrome that can be quite difficult for a person and their family to deal with.

“[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.”

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12. A Doctor Who Found the Needle In The Haystack

Being a new medical student on rotation can be a bit nerve-racking. You don’t want to be wrong when you present a diagnosis to a doctor, but the lack of self-confidence can make that difficult. Luckily for yemewe, they managed to keep their cool and, instead of making a guess, decided to take to the Internet to discover what was going on with the patient they’d been given. They managed to get a glowing evaluation from their colleagues for it, too! When most people scour the internet for medical results, they just end up thinking, well, they have some rare disease. Don’ worry; millions of times, this is not the case. But if you think you do have something seriously wrong, just get it check out. Then, consider buying a lottery ticket, too, depending on the results.

“One morning [the surgeon] tells me to go examine a patient and tell him what he has. I assumed the surgeon already knew the diagnosis. I did the full 300-point med student physical exam and spent hours with this 25 yo kid. This kid had been in the hospital multiple times with life-threatening gastrointestinal bleeding and severe anemia. He had nystagmus in his eyes, and the color of his eyes was off. I got online with all of his symptoms/exam findings and basically typed them into Google. It is called Hermansky Pudlak syndrome.”

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11. Your Skin Is Not Supposed To Be That Color

People aren’t sure what to do when their skin changes color to something that’s not normal. It’s definitely a sign that something is wrong, and medical attention should be sought immediately. But what is a doctor to do when the cause of the change is the patient themselves? TheTallerTaylor came across a patient whose skin had become completely silver/grey, and they weren’t sure what to do about it. Talking with the patient, it seemed, didn’t help matters at all.

“My first impression from across the room was that he was severely hypoxic, and I was amazed he was walking and talking. He made comments that made it appear he was a huge conspiracy theorist, so I was suspicious of colloidal silver toxicity. When I asked him about it, he shouted angrily, ‘I don’t take silver supplements anymore!’ After some prying, he said he took them to self-treat for a prion disease which he self-diagnosed from ‘the grape juice test’ where you spit out grape juice into a Petri dish and ‘a fungus grows out of it.’ At this point, I’m like yeah, this patient is nuts. I’m pretty sure he listened to too much Alex Jones and, as a result, permanently died his skin blue, a condition called argyria.”

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10. When Not Even Your Doctors Understand What’s Going On

This story isn’t from a doctor, but from the patient themselves, since no doctor seems to really understand what they have. Every time they try to explain it, the doctor stares at them in disbelief. Anna_Draconis even explained that looking up the condition on the Internet always provides the wrong results for a different condition altogether. Thankfully, someone in the comments managed to provide them with a different name that they can take to their doctors for better treatment.

“I am someone with a rare disorder, called reflux valve disorder. Basically, it means that the valve between my kidneys and bladder doesn’t close or work properly, so I get kidney infections all the time. So far as I know, there’s no surgery or cure for it, just something internal that was deformed when I was born. It’s always a weird thing to explain to new doctors. Sometimes they point to a chart and say, “You do know you’re talking about this valve here, right?” or they just scrunch up their eyebrows in disbelief until I pee in a jar for them.”

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9. Some People Have the Strangest Allergic Reactions

People can be allergic to just about anything. That includes everyday things like latex, wheat, or even water, and sunlight. It takes a lot of time and patience to figure out what a person could be allergic to. Unfortunately for this person, they had to figure things out the hard way until their doctor finally gave them a diagnosis that helped them to manage their condition in the future. According to AngelicaPickles, all it took was to leave one key ingredient out of their future meals.

“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 of 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.” Hopefully this person doesn’t love eating those raw mushrooms, otherwise she will be heartbroken. Better to be sad over a food you have to avoid, though, then going to an early grave over some fungus.

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8. A Diagnosis that Could Only be Made When It’s Too Late

Cancer is a horrible, debilitating disease. Thankfully, modern medicine has made it easier for people to deal with it and come out on the other side, fully recovered and healthy. But there are some cancers that are extremely difficult to combat. According to S-Maturin, it’s a cancer called Merkel Cell Carcinoma and involves the sensory nerve cells of the skin. From their story, dealing with this kind of cancer isn’t easy.

“I was involved after the initial excision biopsy and assisted the sentinel node biopsy to check for metastasis. This is where a dye and a radioactive tracer are injected into the tumor. After a short time, a geiger counter is used over the skin to find the lymph node that the tissue in the tumor area drains toward first. It is then excised, being identified in surgery by the dye, and is sent to pathology to see if the tumor has spread to the lymphatic system.” And that must have been the case for this Reddit user. It is too bad to find such a rare disease, but hopefully we all can learn from this experience.

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7. Paying Attention In Medical School Really Pays Off

Going through medical school isn’t easy for anyone, no matter how smart you are. You have to take everything into account while working incredibly long hours, and it can put a lot of stress on your body. But because your career is focused on helping people, it can be very rewarding to get things right. IDK_MY_BFF_JILLING went through the whole thing, and when presented with a patient, managed to provide them with a diagnosis and the help they needed to prevent their condition from becoming worse.

“When I was a medical student, I caught a Guillain–Barré syndrome, which is roughly 10-20 per million. He had been admitted to orthopedics with a working diagnosis of spinal stenosis because he was losing the strength in his legs. But being a medical student, I had tons of time to take a really detailed history and discovered that his paralysis was ascending from his feet to ankles to knees. [I] told the ortho team what I thought [and by] the next morning the paralysis had reached his diaphragm, and he was being ventilated in ICU.”

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6. The Real Struggle Of A Parent Taking Care Of Their Sick Children

Becoming a parent can be a joyous blessing. However, it can also be a stressful time from the moment you conceive until, well, the end of time. Luckily, doctors do all that they can to make children healthy, but it’s on the parents to take care of those conditions for the rest of their lives. That makes raising children even more stressful than it needs to be, and it doesn’t help when everyone else around you doesn’t believe you or is too selfish to care. For N8theGr8, it’s something a lot more serious than other children not washing their hands.

“Both of my daughters have been diagnosed with FPIES. That’s short for Food protein-induced enterocolitis syndrome. It basically means that they show delayed allergic reactions to something like 90% of food out there. They can’t have dairy, soy, eggs, meat, nuts, wheat, and rice, just to name a few. My wife had to develop a lot of recipes on her own because nothing existed that included the foods that were available to them. Because of this, she may spend up to three hours a day cooking. We have to carry hand wipes with us because she’d end up having a reaction just from playing on things that other kids have played on.”

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5. Go in For One Thing for One Patient, Someone Else Gets Diagnosed

Sometimes, you might take a friend or family member to the doctor with you. In most cases, it is your mother. Even so, you have certain expectations when you go to the doctor’s office as to what they might say to you. What you don’t expect is that the doctor will diagnose someone else in the room with you who didn’t come as a patient. It can be a bit alarming and confusing, but doctors don’t usually provide medical advice for free. Thankfully for kasowavd, the doctor’s random diagnosis ended up saving their mother’s life.

“My mom accompanied my sister on a visit to an allergist. The doc walked into the room, looked up from reading the chart, stopped dead in his tracks, and stared at my mother. Seemingly mesmerized, he walked up to my mom. Without asking permission or saying a word, poked a finger into her cheek. ‘You need to get to the ER right now.’ It turns out she had advanced colon cancer. She was bleeding internally and severely anemic,. Plus, her heart was failing, and fluid was backing up. It caused her face to be really pasty and bloated (which he recognized), and when he pressed his finger to her cheek, he saw serious pitting edema.”

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4. Trying To Convince A Patient And Her Parents That There’s Nothing Wrong

At some point, when a person believes that they’re sick, it can be difficult for a doctor to convince them otherwise, no matter how much medical information is provided to them. One such condition is called delusional parasitosis, where a person suffers from a psychological disorder where they believe they are infected with parasitic worms or bugs. Providing medication for these parasites can have terrible side effects, and there’s no guarantee the patient will feel “cured” since there’s nothing wrong with them anyway. Unfortunately for Smeeee, they had one such patient come in.

“She actually brought a sample of these worms. She brought them in a glass, covered with saran wrap. I held it up to the light. It looked like saliva with clumps of mucus in it. As I was trying to convince her that it was just normal spit, her parents arrived. Mom and dad were livid with me when I suggested that it was in her head. So I opened up the glass, and with a gloved hand, I pulled out the “worms.” I ran it around in my fingers and showed them. I saw it in dad’s face, and then he turned to his wife and said, “honey, I think we need to talk.” I left the room, and they took her home 15 minutes later.”

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3. When Someone Catches The “Forgotten Disease”

It’s one thing to get a rare disease, but it’s something else to contract something called “the forgotten disease,” which means that it’s not diagnosed very often. Unfortunately, if a doctor doesn’t consider this kind of diagnosis, then it could result in the death of the patient. OrdinaryBunbury wasn’t the doctor in this story, but their friend ended up being diagnosed with their rare and horrible condition.

“Someone I was close with in college came down with Lemierre’s Syndrome. He was home for Christmas break and had a sore throat. And he went to the doctor, the doctor said to hydrate, and it should go away. He dealt with it for another day or so. Then he started to get really bad headaches, and was throwing up a lot. Finally, his mom realized that he was throwing up excessively frequently and also there was blood. So she took him to the ER. He was also allergic to penicillin. That turned out to be a good thing because, apparently, that would have made it much worse. Apparently, one of the doctors thought, hey, it might be Lemierre’s Syndrome. And sure enough, when they started treating him for that, he started getting better.”

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2. A Doctor Performs Surgery For One Thing And Discovers Something Else

Many surgeons never know what they’re going to find when they perform surgery on someone. Even with the latest in technology, they can end up surprising themselves once all of the layers are peeled back. That’s because medicine and science can be unpredictable, leaving doctors scratching their heads. jacquesrabbit decided to share this story of a surgery that revealed much more about the patient than even they knew.

“A guy came to to the hospital because of abdominal pain. He was diagnosed with an incarcerated hernia and sent to OT for exploratory laparotomy. Then the surgeon went in to see the inguinal anatomy if there is any other anatomical problems/disorders, i.e., torsion incarcerated inguinal hernia. Then, the surgeon could not find the testes. He went right into the scrotum but could not find any testes. So, he finally decided to pull out whatever organ he could find in the scrotum. He pulled out two eggs and a butterfly-shaped organ. They confirmed it: it was a uterus and two ovaries.”

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1. A Story of The Body Trying To Destroy Itself

Autoimmune diseases are some of the strangest conditions that people have to deal with on a daily basis. To put it simply, the body’s immune system is basically targeting the other parts of the body, leading to a lot of pain and inflammation that can appear like other allergic reactions. themidnightradio’s girlfriend ended up being diagnosed with an autoimmune disorder, but she had to go through a lot before the doctors figured out what was wrong.

“One day, she noticed some little red dots on her legs, but they didn’t itch and weren’t raised. We figured it was an allergic reaction to her new body wash or something, so we didn’t worry too much. One day, she came home from work early because her legs had swollen up, and she could barely walk. She spends the next four weeks in three different hospitals until dermatologist figures out she has henoch schonlein purpura. That is basically an autoimmune disease where the white blood cells attack the blood vessels, destroying them. Blood was flowing down into her legs and couldn’t return.”

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