When it comes to rare diseases, many of us are unaware of just how prevalent they are. From medical conditions that remain largely undiagnosed to those that have been completely forgotten over the centuries, there's no denying their impact on both physical and mental well-being.
In this blog post, we'll take a look at ten of the rarest diseases in the world which can often feel hard for doctors to diagnose within individuals due to their unique symptoms and rarity overall. Whether you're looking to educate yourself on these mysterious illnesses or simply curious about learning more, read ahead as we explore some very unusual health disorders with an even smaller population diagnosed as sufferers!
What is a rare disease?
A rare disease is any condition that affects a small percentage of the population. In fact, it is estimated that over 7,000 rare diseases exist and they generally impact less than one in 2,000 individuals. While some rare diseases can affect people of all ages, sex, and race, others may predominantly occur in specific demographics.
Some rare diseases are known to be incredibly rare - in fact, the rarest disease in the world is believed to be Gargoylism with an estimated 10 known cases worldwide. Such rare diseases have typically remained unknown or undiagnosed - until recently. New technologies and improved healthcare systems are making it easier for medical professionals to detect such rare illnesses and therefore improve diagnoses for individuals affected by these rare conditions.
1- Stoneman Syndrome
Stoneman Syndrome is one of the rarest diseases in the world; its exact cause is unknown. Characterized by rare bone formation and low mineral density, its symptoms can often times be severe and even debilitating to those affected. Research conducted on this rare disorder has shown that it affects both men and women equally, but is typically diagnosed in children or adolescence.
Additionally, Stoneman Syndrome is typically localized to a single area with bones closest to it being generally weaker than normal. Treatment normally consists of pain management, physical therapy or surgery depending on the severity of the symptoms and how productive the therapy is. The main goal of treatment is preserving mobility as much as possible to maximize quality of life for those with Stoneman Syndrome.
2- Fibrodysplasia Ossificans Progressiva (FOP)
Fibrodysplasia Ossificans Progressiva (FOP) is believed to be the rarest disease in the world. Individuals with this disorder experience soft tissues and muscles that gradually harden into bone, a condition known as extra-skeletal ossification. People with FOP rarey live beyond age 50 due to new bone formation obstructing bodily organs or movement.
Unfortunately, there is no cure for this condition yet, though recent advancements have resulted in treatments becoming available, such as drugs and physical therapy to reduce pain and assist mobility. Individuals with FOP have a variety of support networks available to provide mental and emotional assistance throughout their battle with this unique yet challenging disease.
3- Alice In Wonderland Syndrome (AIWS)
Alice in Wonderland Syndrome (AIWS) is an extremely rare neurological disorder that can lead to intense episodes of visual, auditory and physical distortions, disorientation and confusion. Characterized by a distorted perception of one’s own body size, objects around them and the environment, AIWS is rarest disease in the world, with only about 20 reported cases.
Whilst a cure for this condition does not yet exist, medical professionals can provide treatments tailored to individual cases to help manage the symptoms; including medications such as antiepileptic drugs or antipsychotic drugs may also be beneficial depending on the patient’s situation. Furthermore, psychological counseling can help those affected cope with their experiences more effectively.
4- Kuru Disease
Kuru disease is a rare neurological disorder caused by the prions that are responsible for a rare type of transmissible spongiform encephalopathy. It is often referred to as the "laughing death" because those who contract it experience loss of motor function and uncontrollable bursts of laughter, ultimately leading to death. Kuru disease is considered one of the rarest diseases in the world, with no known treatment or cure.
Those most susceptible to kuru are members of certain indigenous tribes from Papua New Guinea where it was spread through ritualistic mortuary cannibalism practices - something that has been eliminated in modern times. However, there are still reports from rare cases occurring as recent as 2009; suggesting rare cases can continue to happen even if customs have generally been abandoned.
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5- Porphyria
Porphyria is a rare and devastating metabolic disorder which has been made famous by its connection to the historical fiction of Dracula. In fact, it is thought that Porphyria was the basis for the origin of vampires in literature as people with Porphyria were often thought to display physical characteristics that were similar to those described as vampire traits.
Fortunately, this rarest disease in the world rarely occurs due to advances in medicine such as heme-based treatments. People suffering from Porphyria can look forward to managing their condition through accelerated care and modern advances that have only become available recently.
6- Morgellons
Morgellons is one of the rarest diseases in the world, said to have been identified by its mysterious symptoms first around 2001. It's characterized by spontaneous skin eruptions of colored fibers and various other objects such as beads and sand-like particles, as well as intense itching sensation, fatigue, pain and memory loss.
Although doctors are yet to fully understand what causes Morgellons, research suggests that it may be linked to environmental toxins or an infectious agent. In rare cases, medical intervention may be necessary for treatment and management of health issues associated with this disease. However, sufferers can also opt for natural remedies such as detoxification therapy and probiotics for symptom relief.
7- Progeria
Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is one of the rarest diseases in the world. It manifests itself through a rapid aging process beginning in early childhood and results in profound physical and psychological challenges to those unfortunate enough to suffer from this affliction. Characterized by rare rates of growth failure, hardening of the skin, and an increased risk for heart disease and stroke, children with Progeria typicall have an extremely shortened lifespan.
Despite these obstacles, many individuals with Progeria show resilience throughout their lives with regards to mental health due to the amazing support found in families and communities that understand both the challenges and possibilities associated with it. Anyone affected by this rare disease knows that it is vital to find hope despite hardship.
8- Foreign Accent Syndrome (FAS)
Foreign Accent Syndrome (FAS) is a rare neurological disorder that was first discovered in 1907. It is believed to be the rarest disease in the world, affecting only around 100 people thus far. Although it is not always linked to a head injury, FAS often occurs as a result of stroke, brain trauma, or other conditions that can displace the language processing centers in the brain.
While accent change is typically one of the rarest symptoms of any neurological condition, FAS patients report having their entire accents completely changed overnight—sounding like someone from entirely different backgrounds and cultures than their own. Despite this dramatic shift in accent and dialect, FAS does not impede normal linguistic processes or cognitive fuctions.
Patients affected by FAS often describe it as an unnerving surprise which can lead to feeling isolated and confused due to their sudden inability to communicate familiarly with family members and friends they have known for many years. Thankfully, proper psychological counseling and language therapy can help transition into speaking with a new accent over time.
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9- Methemoglobinemia
Methemoglobinemia is rarest disease in the world, part of a spectrum of rare disorders referred to as rare inherited metabolic disorders. This disorder affects the body's ability to absorb and use oxygen which can lead to serious medical issues due to lack of oxygen in the bloodstream.
Symptoms can range from shortness of breath, heavy breathing, skin discoloration and fatigue - however these symptoms may not be observed in some cases. Treatment for this rare disorder typically includes supplemental oxygen therapy or methylene blue formulations and must be administered as quickly as possible to minimise long-term effects or perhaps even death. While methemoglobinemia is rare, it very much remains a real problem in those affected.
10- Water Allergy
Water allergy is a rare condition that affects an estimated 1 in 23 million people globally. This rarest disease in the world is linked to a rare gene mutation which causes someone's immune system to react to molecules that are found in pure water.
Symptoms can range from mild skin irritations such as hives and itching around the mouth, to more severe reactions such as oral inflammation and respiratory difficulty when exposed to water directly. Unfortunately, there is currently no cure for this rare illness, but managing the symptoms of water allergy through avoidance of direct contact with it has been proven effective.
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Source: https://instacare.pk/blog/rarest-disease-in-the-world
