There are illnesses, such as diabetes, hypertension or asthma, which almost all of us have heard of. But what about the ones that are so rare that very few of us will know about them? We’ve taken a look at five of the rarest and strangest diseases on record.
The existence of rare and unusual diseases shows how much we still have to learn about the body human. For some diseases, you may even wonder if they really exist. Here are five fascinating diseases on our list, from a syndrome that causes an individual to spontaneously produce pure alcohol in the gut, to a syndrome in which various bodily tissues grow disproportionately, severely impairing the appearance of a person and can lead to many other health problems.
1 Self-brewing syndrome: the intestine produces pure alcohol on its own which makes you drunk
Most of us only experience the intoxication, and the “difficult morning” that follows, after having had a few strong drinks. While alcohol may give us a good feeling at first, a hangover is a stark reminder that our bodies don’t like partying that much. There are, however, people who suffer from intoxication and hangovers without having consumed a significant amount of alcohol, or even without having ingested any at all. These people suffer from a rare condition called auto-brewery syndrome or gut fermentation syndrome, in which pure alcohol (ethanol) is produced in a person’s gut after they eat food. rich in carbohydrates. An excess of Saccharomyces cerevisiae (a type of yeast) in the intestine is the main culprit. These yeasts generate a fermentation process that produces ethanol. However, the researchers note that spontaneously produced alcohol would not be sufficient to make someone punished for drunk driving.
Some cases are more serious than others
Although self-brewing syndrome does not have to produce a high blood alcohol level, some cases can be more serious. However, a variation of this condition can have more serious effects. As the liver usually processes ethanol, people whose liver is not functioning properly may suffer from a form of self-brewing syndrome in which alcohol builds up and stays in the system longer.
Symptoms that accompany this condition include belching, chronic fatigue syndrome, dizziness, disorientation, hangover, and irritable bowel syndrome (IBS).
Relieve symptoms by modifying your diet
All of these symptoms can have an additional impact on mental health and well – physical being of a person. In an interview for the BBC in the UK, a person with auto-brewery syndrome explained how the condition affected her before she was diagnosed: “It was weird, I was eating carbs and suddenly I was clumsy, vulgar. Every day for a year I woke up and threw up. Sometimes this happened for several days in a row. Sometimes it was just like “bam!” I’m drunk.”
Fortunately, most people can manage self-brewing syndrome by changing their diet. By switching to low-carb, high-protein foods. An additional step in the treatment of this disease is to take antibiotics and antifungal therapies.
2 Foreign accent syndrome: one begins to speak with an accent of elsewhere
Imagine this: you were born and raised in Paris, and you speak a stereotypical metropolitan language. But one day, while playing one of your favorite sports, you receive a severe blow to the head and you pass out. When you wake up in the ER and call the nurse, you realize something shocking has happened to you: your Parisian accent has disappeared and been replaced by what looks like a strong Marseille accent.
What happened ? This thought experiment illustrates an extremely rare condition: foreign accent syndrome. A person with foreign accent syndrome has a speech impediment, which makes them sound like they are speaking with a foreign accent. It is a speech disorder, which results from damage to the parts of the brain responsible for coordinating speech. This brain damage can be the result of a stroke or traumatic brain injury, and the speech impediment that develops makes the person seem like they have suddenly acquired a foreign accent. The researchers note that recorded accent “shifts” linked to this syndrome include switching from Japanese to Korean, from British English to French, from American English to British English, and from Spanish to Hungarian.
However, some studies suggest that while most cases of foreign accent syndrome may be due to brain damage, in some cases this condition may have a psychogenic origin. In a review of the literature published in the journal Frontiers in Human Neuroscience in 2016, researchers conclude that psychogenic foreign accent syndrome is a sub -type of this condition. The authors write, “Psychogenic foreign accent syndrome is related to the presence of a psychiatric or psychological disturbance in the absence of demonstrable neurological damage or an organic condition that could account for the accent.” This subtype, they add, seems to occur more often in women than in men, usually between 25 and 29 years.
3 Odor syndrome of rotten fish: sweat, breath and urine that smell of the tide
When a person has trimethylaminuria, more commonly known as rotten fish smell syndrome, they emit a unpleasant body odor, reminiscent of the smell of rotting fish, by its sweat, breath and urine. Fish odor syndrome causes a person to have a strong unpleasant body odor. This can have a serious negative impact on mental health. This occurs when the body is unable to break down the organic compound trimethylamine, which produces that strong “fishy” smell.
Fish odor syndrome appears to occur in people who have specific mutations in the FMO3 gene. This gene tells the body to produce enzymes that break down organic compounds, such as trimethylamine. The strength of the unpleasant odor may vary over time, and also between individuals. However, the nature of this condition generally has a significant impact on the person’s daily life and mental health.
Social and self-esteem suffering
Researchers write in a review on trimethylaminuria published in 2013 in the Journal of Clinical and Aesthetic Dermatology: “Patients with rotten fish smell syndrome are often ridiculed and suffer from low self-esteem. By withdrawing from their peers, they become solitary. This can have a negative impact on their academic performance. Anxiety can also be a problem, especially if they are unable to detect their smell “. Patients also admit to feeling shame and distress because of their condition, and cases of suicide attempts have been noted,” the researchers add.
Strategies for managing trimethylaminuria may include dietary changes to eliminate or reduce the presence of trimethylamine precursors. These precursors include trimethylamine N-oxide, found in marine fish, and choline, found in eggs, mustard seeds, chicken and beef liver, and raw soy. However, researchers also note that excessively low levels of choline (choline deficiency) can lead to other health complications. Such as liver problems, neurological diseases and higher risk of cancer.
4 Fatal Familial Insomnia Syndrome
We all know that insufficient or poor quality sleep can affect all aspects of a person’s life and well-being, from their physical health to their mental health. For some people, alas, the sun is impossible to find.
Fatal familial insomnia is a degenerative brain disease for which there is currently no cure. While most of us can make appropriate lifestyle changes to improve our sleep hygiene and avoid the impact of sleep deprivation, unfortunately a few people suffer from a rare condition called Fatal Familial Insomnia. It is a degenerative genetic disease of the brain that results in increasingly serious forms of insomnia. They end up causing “significant physical and mental deterioration”. Additionally, fatal familial insomnia can impact the autonomic nervous system. Our “autopilot”, which regulates processes such as breathing, heart rate and body temperature. A variation in the prion-related protein gene, which regulates prion protein expression, is usually the cause of this condition. Protein abnormalities may be associated with neurodegenerative diseases.
In fatal familial insomnia, damaged proteins accumulate in the thalamus, a region of the brain that plays a crucial role in a person’s ability to move and feel. This damages brain cells and leads to the severe physical and mental symptoms that this condition causes. Despite hopes that antipsychotic drugs and drugs used to fight malaria could treat the disease, the approach proved unsuccessful. Currently, there is no cure for fatal familial insomnia and research into this condition is ongoing.
5 Proteus Syndrome: The Evil That Hit John Merrick , aka “Elephant-Man”
One of the strangest rare diseases recorded to date is Proteus syndrome, a condition in which different types of tissue: bone, skin, but also tissues of organs or arteries, develop disproportionately.
This disease has genetic causes, although it is not hereditary. Rather, it results from a mutation in the AKT1 gene, which occurs randomly in the womb. There may be no visible signs of the presence of Proteus syndrome at birth, as the overgrowth of tissue usually appears between 6 and 18 month. The condition gradually worsens over time. The syndrome can lead to a whole host of other health problems. These include intellectual disability, poor eyesight, seizures, as well as non-cancerous tumors and deep vein thrombosis, a condition characterized by the abnormal formation of blood clots.
Historically, the case the most famous of Proteus syndrome was that of Joseph Carey Merrick (1862-1890), cruelly called “the elephant man”, in 19th century Britain.
At this time in history , rare ailments, such as this, have often caused a person to become a curiosity of nature on public display. Merrick himself reported that the way others treated him, including doctors, made him feel to be “like an animal in a cattle market”. Fortunately, times and mentalities have changed. We now understand that any given medical condition does not constitute a person’s identity. Today, medical care and medical research recognize that the well-being of each individual must be a priority.
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elephant man rare diseases proteus syndrome auto-brewery syndrome