Buzz
Medical series are rapidly taking over US television. From Chicago Med to The Good Doctor, it’s clear that people are fascinated by the complexities and delicate balance of the human body.
Television gives us a window into the hidden world inside our bodies, offering insight into what happens when our internal systems go awry, and fueling our intrigue with illness and the fragility of life.
Although the human body is a remarkable product of evolution—able to thrive in various environments, diets, and activities—it has its vulnerabilities. Sometimes, the immune system falters, the heart struggles, or genetic disorders disrupt critical metabolic processes.
Yet, every so often, a medical condition arises that is so rare it demands special focus. Now, let's explore 10 fascinating and extraordinary cases of unusual medical conditions.
10. Drunk On Carbs
Every day, Nick Hess would wake up and immediately feel the urge to vomit. The 35-year-old struggled with several puzzling symptoms, such as stomach cramps, nausea, and frequent headaches. On top of that, he often felt the sensation of being drunk, even though he hadn't consumed any alcohol at all. 'Sometimes, it would happen gradually over a few days, and other times, it hit me out of nowhere like a punch to the face,' Nick recalled.
At first, his wife suspected he might be in denial about being an alcoholic. Karen Daws scoured their home looking for hidden bottles of booze, but found nothing. Despite undergoing numerous medical tests, doctors were unable to figure out the cause of Nick's strange symptoms.
Through Karen's independent research, the couple from Ohio eventually reached out to Dr. Anup Kanodia. After examining stool and blood samples, Kanodia discovered that Nick's gut contained an alarming 400 percent more yeast than is typically found in a healthy digestive system.
It was revealed that Nick had a condition known as auto-brewery syndrome. A specific strain of yeast (Saccharomyces cerevisiae) in his gut was responsible for the excessive fermentation of carbohydrate-heavy meals. This fermentation process created alcohol, which was absorbed into his bloodstream, ultimately raising his blood alcohol levels.
Although auto-brewery syndrome is a recognized medical condition, there is still considerable debate about whether the alcohol produced in the gut can lead to serious intoxication. Over time, some individuals accused of driving under the influence have used auto-brewery syndrome as a defense in court.
In 2015, a New York woman had her drunk driving charges dropped after it was revealed that she was suffering from auto-brewery syndrome. Anup Kanodia was called to assess her blood alcohol levels. The woman was closely monitored for an entire day to ensure she didn't consume any alcohol. By the end of the test, it was discovered that her blood alcohol content had reached 0.36—more than four times the legal driving limit.
As for Nick, he now takes antifungal medication to regulate the yeast levels in his gut. Additionally, he follows a strict diet that is low in carbohydrates and yeast.
9. Hyperekplexia
Hyperekplexia, also referred to as ‘exaggerated surprise,’ is a genetic disorder marked by heightened muscle tone. The most noticeable symptom of this uncommon condition is an intense startle reflex. People with hyperekplexia tend to react dramatically to even simple surprises, resulting in exaggerated physical movements. This is followed by a brief period of rigidity, during which the individual is unable to move.
In the United States, approximately 1 in 40,000 individuals are affected by hyperekplexia. Experts suggest that this genetic form of the condition arises due to mutations in specific brain stem receptors. These mutations interfere with the normal ‘dampening’ signals that would typically reduce the intensity of the startle reflex.
This disorder poses significant risks to newborns, as the exaggerated startle reflex can lead to breathing difficulties. This was notably true for a British child named Jacob Madgin. As an infant, Jacob’s condition was so extreme that he required tube feeding. Even the slightest touch of a bottle teat against his nose would trigger a spasm, obstructing his breathing.
Anything, from the bark of a dog to the splash of water, can trigger an episode. “You never know what might set Jacob off. Once, I opened a box of blueberries, and just the sound of the plastic lid cracking triggered an episode,” recalled his mother.
8. Phantom Rectum Syndrome
At times, surgeons are required to reroute a portion of a patient's compromised or damaged intestine. This procedure involves detaching the healthy part of the intestine from the affected area and redirecting it through the abdomen. The waste then exits through an opening known as a stoma and is collected in either a colostomy or ileostomy bag. Following this surgery, fecal matter no longer reaches the rectum.
Some patients with a stoma still retain their rectums. In these cases, the bowel continues to produce a lubricant designed to assist in the movement of food. However, in the absence of food passage, this mucus can sometimes form a painful, dry ball that requires expulsion.
Patients who have had their rectums removed may experience a sensation of needing to defecate, a phenomenon known as phantom rectum syndrome. Many report feeling the urge to pass gas (phantom flatus) or even feces (phantom feces). This can be accompanied by sensations of phantom pain, such as burning, stinging, or tingling.
In 2013, BBC presenter Sam Cleasby underwent surgery to remove part of her colon after enduring years of suffering from ulcerative colitis. Since then, she has been dedicated to raising awareness about stomas and challenging the stigma associated with the use of stoma bags.
Sam has previously described what phantom rectum syndrome feels like: “People who have lost a limb still feel pain or itching, or they feel like their limb’s still there. [ . . . ] So that’s the same but in your rectum. It’s like your brain doesn’t know that it’s not attached anymore.”
7. Sweating Blood
In 2017, a 21-year-old woman from Italy was rushed to the hospital with a shocking symptom: spontaneous bleeding from her palms and face. The bleeding episodes would last for up to five minutes and could occur without warning. After enduring this for three years, she finally sought medical attention. The woman became increasingly self-conscious, isolating herself from others, and began showing signs of depression and panic disorder.
Initially, doctors considered the possibility that the patient was suffering from factitious disorder, a mental health condition where individuals fabricate or exaggerate medical symptoms, often to gain attention or sympathy. Factitious disorder is relatively common, costing the US approximately $40 million annually.
It soon became clear that the woman was not inflicting harm on herself. Doctors observed the “discharge of bloodstained fluid” emerging from her forehead and lower face.
The medical team eventually diagnosed her with hematohidrosis. While the precise cause of this condition is still unknown, it often affects individuals experiencing extreme emotional or physical stress. The small capillaries feeding blood to the sweat glands rupture and leak, allowing blood to mix with sweat and ooze to the surface of the skin.
There have been cases of hematohidrosis in individuals under intense fear, a phenomenon that might even trace back to the time of Jesus Christ. The day before his crucifixion, Christ prayed in the Garden of Gethsemane. According to the Gospel of Luke, a visibly anxious Jesus produced “great drops of blood” that fell to the ground.
6. Hirschsprung’s Disease
In 2017, surgeons in China performed an operation to remove approximately 76 centimeters (30 inches) of a patient's colon. Before the surgery, 22-year-old Zhou Hai's abdomen had swelled to such an extreme that he appeared to be heavily pregnant. Inside the resected portion of the bowel, doctors found an astonishing 13 kilograms (29 pounds) of feces.
Doctors soon identified the cause of the issue: a rare congenital condition known as Hirschsprung’s disease.
The patient had been battling constipation since birth, with little relief from laxatives. It was revealed that his constipation was caused by the absence of nerves in parts of his large intestine.
Normally, the entire length of the bowel is controlled by a network of nerves that send signals to trigger the rhythmic contractions and relaxations of the bowel muscles, helping to move feces toward the rectum. In individuals with Hirschsprung’s disease, the lack of some of these nerves disrupts this process, leading to a build-up and blockage of feces.
Zhou Hai's blockage had persisted for so long that the accumulation of feces was preventing him from breathing properly. He also experienced intense abdominal pain, which was understandable considering the weight he had been carrying around.
At the Tenth People’s Hospital in Shanghai, surgeons successfully removed the damaged portion of Hai’s bowel. During the three-hour operation, the healthy section of his bowel was reconnected to his anus.
5. Gluten Psychosis
Celiac disease is a condition that most people are familiar with. It occurs when the immune system reacts to a particular protein found in wheat, leading to an attack on the small intestine. If untreated, the intestinal tissues become damaged, which impairs the gut’s ability to absorb essential nutrients.
Common symptoms of celiac disease include bloating, stomach pain, weight loss, diarrhea, and constipation. However, in rare cases, the condition can also cause mental health issues.
In 2016, a 37-year-old student baffled doctors with a range of strange symptoms. She became convinced that her family and friends were plotting against her in a bizarre 'game.' Her delusions escalated when she accused her parents of breaking into her apartment and later made several threats to her loved ones. Eventually, she was admitted to a psychiatric facility.
The woman’s iron levels had dropped significantly, and she lacked several essential vitamins. Despite an increased appetite, she experienced drastic weight loss. Initially, doctors diagnosed her with paranoid schizophrenia.
After being discharged with antipsychotic drugs, multivitamins, and minerals, the woman’s condition showed no improvement. Her psychosis continued, and the weight loss persisted.
The breakthrough came when doctors discovered the underlying cause of her psychosis: celiac disease. While most people with celiac disease present with digestive symptoms, about 20% of patients experience neurological and psychiatric complications.
Although immune system damage typically stays confined to the gut, when these harmful immune cells reach the central nervous system, they can trigger psychiatric disorders such as memory loss, hallucinations, and seizures.
The woman initially resisted following a wheat-free diet, convinced that the doctors were not acting in her best interest. Her health rapidly worsened as a result. She lost her job, ended up on the streets, and even attempted suicide. Afterward, she was readmitted to the hospital and began a wheat-free diet, which eventually helped her recover.
Just a few months into treatment, the woman’s psychosis lifted, and she began to regain control over her life. Sadly, a lapse in attention led her to inadvertently consume wheat once again, triggering another psychotic episode. This time, she ended up in jail after attempting to kill her parents.
4. Persistent Genital Arousal Disorder
Kim Ramsey, a nurse in the A&E department, was once plagued by up to 100 orgasms daily. This ongoing state of arousal began in 2001, following a fall down a staircase. Since then, Ramsey has been battling persistent genital arousal disorder (PGAD), a condition that affects her every day.
PGAD is an uncontrollable and unwanted sensation of genital arousal that can persist for hours or even days. Though the disorder is most commonly seen in women, there have been rare cases in men as well. Researchers believe PGAD may be linked to psychological, neurological, and vascular factors, although the condition remains poorly understood.
Many individuals with PGAD feel as if they are constantly on the brink of orgasm, with episodes often occurring in public spaces. These feelings of arousal are sometimes paired with pelvic pain and discomfort. For Kim, managing certain triggers helps reduce her symptoms, and she also tries to distract herself by staying busy with work.
Heather Dearmon, a 34-year-old from South Carolina, began experiencing similar symptoms during her pregnancy. She hoped the issue would resolve after giving birth to her son, but the symptoms persisted for years and only became more frequent.
In an attempt to manage her symptoms, Dearmon would masturbate to three consecutive orgasms. 'Achieving three orgasms in a row takes a long time. I felt as if my entire life was being stolen from me,' she shared. Even simple car rides would trigger the arousal.
Due to the highly embarrassing nature of PGAD, many women report feelings of depression and suicidal thoughts. In 2012, Gretchen Molannen, after enduring 16 years of PGAD, tragically took her own life. Before her death, she recounted one of her most difficult experiences: 'I had not yet received medical treatment or any form of medication. I had 50 orgasms in a row. In a row. Nonstop. I thought I was going to die.'
There is no known cure for PGAD, but the condition is often managed through a combination of medications, cognitive behavioral therapy, and pelvic floor therapy.
3. Forever Young
Mario Bosco, a Hollywood actor in his forties, is often mistaken for a 14-year-old boy due to his youthful appearance. Despite his age, the Brooklyn native’s childlike looks and small size are the result of a condition called panhypopituitarism.
Panhypopituitarism occurs when the pituitary gland doesn't produce the correct amount of hormones. The disease’s symptoms vary depending on which hormones are deficient. For example, a lack of growth hormone leads to growth delays, while reduced gonadotropins cause hindered sexual development.
Bosco spent a significant portion of his childhood in and out of hospitals due to severe medical complications at birth, including convulsions, low blood sugar, and thyroid issues. His abnormal hormone levels prevented his body from maturing properly. At present, he stands at just 147 centimeters (4’10”) and has the physique and face of a thin teenager.
Despite facing many obstacles, Bosco rose to fame as an actor. He met numerous Hollywood stars and appeared on various television programs, such as NYPD Blue and Jimmy Kimmel Live. 'I feel like none of this would have happened if I hadn’t looked and sounded different,' he explained.
2. Parry-Romberg Syndrome
Parry-Romberg syndrome is an uncommon condition that causes the skin, muscles, and connective tissues on one side of the face to shrink. This atrophy typically affects only one side of the face (hemifacial), leading to a slightly drooping appearance. Parry-Romberg syndrome generally begins during childhood or adolescence and progressively worsens over the years. The rare condition affects only about 1 in 250,000 people.
In 2011, a British girl named Maha Asghar was diagnosed with Parry-Romberg syndrome. At just three years old, the right side of her face began to slowly deteriorate.
The changes in the tissue surrounding her right eye and ear indicate that Maha will likely face issues with both vision and hearing. She also experiences severe pain, which can persist for several hours.
Currently, there is no available treatment through the UK’s National Health Service, so Asghar’s family is seeking crowdfunding to cover surgery costs abroad. Those with Parry-Romberg syndrome often travel to the United States, where only two vascular surgeons possess the specialized skills needed for the facial reconstruction procedure.
In 2011, a young girl from North Carolina underwent life-saving microvascular surgery. Dr. John Siebert, a pioneering surgeon, took tissue from beneath the girl’s arm and expertly shaped it to reconstruct her face.
Although much remains unknown about Parry-Romberg syndrome, some researchers theorize that it may be caused by autoimmunity, nerve disorders, infections, or trauma.
1. The Blue People of Kentucky
In the 1960s, a hematologist and a nurse set out on a strange mission. Their goal was to find the mysterious 'Blue People of Kentucky.' Ruth Pendergrass had first encountered one of these blue individuals while working as a nurse at a clinic in Hazard, Kentucky.
'Her face and her fingernails were nearly indigo blue. It nearly frightened me to death! She looked like she was having a heart attack,' Pendergrass recalled.
Curious about the phenomenon, Pendergrass joined forces with hematologist Madison Cawein to figure out what was happening. The duo scoured Troublesome Creek and Ball Creek, areas known to be home to the blue people. However, they found no leads.
One day, two blue siblings walked into Cawein’s clinic. 'They were bluer than hell,' Cawein noted. Determined to solve the mystery, the doctor took blood samples from his new patients, Patrick and Rachel Ritchie. He also ventured out to collect blood samples from their relatives.
Cawein discovered that the blue people's blood was missing a crucial enzyme. This enzyme, typically found in red blood cells, is necessary for converting blue methemoglobin into red hemoglobin. The condition, known as hereditary methemoglobinemia, caused their red blood cells to be deficient in oxygen, which explained their bluish skin color.
Cawein’s research revealed a simple remedy: methylene blue. Within moments of applying the treatment, the Blue People’s skin changed back to a normal pink tone. The mystery was finally solved.
But what was the reason behind the large number of blue-skinned people living along the creeks of Kentucky?
The origin of the condition can be traced back to 1820, when a blue-skinned Frenchman named Martin Fugate moved to Troublesome Creek. In a remarkable twist of fate, Fugate married a woman who also carried the recessive gene for methemoglobinemia.
The disease only manifests when both parents pass down faulty genes. Due to their parents’ genetic makeup, four out of the seven Fugate children were born with blue skin. Inbreeding within the Fugate family led to the condition being passed down through generations and spread throughout the region.
