Health and Me

Ishita Roy

These Are The Five Rare Diseases You Did Not Know Existed

Rare diseases

Raising awareness about <span>rare diseases</span> is crucial as it helps many recognize their symptoms. It also helps them to know what signs their bodies are giving them and so they can seek medical guidance accordingly. However, unfortunately many of these disease remain without a cure or even a treatment due to lack of research participants and limited scientific studies. Here are five rare diseases that require more attention, more fundings, and more understanding!

It is also called Fibrodysplasia Ossificans Progressive or FOP. It happens to 1 in 2 million people. Commonly known as the Stoneman syndrome, it is a rare genetic disorder that causes body's connective tissues, which include muscles, tendons, and ligaments to turn into bone. This can lead to progressive immobility. 

The condition starts from the neck and shoulders before it spreads downwards. A second skeleton forms through heterotopic ossification (HO), which remains permanent. Any surgical attempt to remove excess bone growth can in fact worsen the condition. Due to this any minor injuries like a fall can accelerate bone formation. 

FOP is often misdiagnosed as cancer or fibrosis. 

This disorder is named after the famous novel written by Lewis Carroll. This condition was first described by psychiatrist Dr John Todd in 1955, which causes altered body perception where the individual starts to feel that certain body parts like the head or hands are shrinking or growing. 

These visual distortions are common with sufferers perceiving objects as too large or too small. Other symptoms may include altered time perception distorted touch sensation and abnormal sound perception. 

It does not have a cure or treatment, but there are ways to manage symptoms. 

<h4>Hutchinson-Gilford Progeria Syndrome (HGPS)</h4>

It happens to 1 in 4 million people. HGPS is a rare genetic condition that leads to accelerated aging in children. This is diagnosed in mid-teens to early twenties. Symptoms may include aged appearance with prominent eyes, tin nose and a small chin, hair loss at a young age, fragile bone and joint abnormalities, loss of fat under the skin, and heart and kidney failure. 

It was first diagnosed in 1886 with over 130 cases being documented. However, there exists no cure as of now. Though there are treatments that focus on managing the symptoms. 

It is also known as black urine disease and is a rare inherited disorder where the body cannot fully breakdown the amino acids tyrosine and phenylalanine, which then leads to the build up of homogentisic acid. This causes urine to darken and affects various body tissues. 

This buildup can stain connective tissues and can lead to joint pain and arthritis, heart valve issues, kidney and bladder stones and dark pigmentation of ears and eyes. Currently no cure exists, however dietary restrictions could help slow disease progression. 

This is also known as Rasmussen’s Encephalitis which has a rate of 2.4 cases per 10 million people in Germany and 1.7 per 10 million people in the UK. 

This is a rare <span>neurological disorder</span> that happens in children under 10 and causes chronic inflammation in one hemisphere of the brain. It could lead to frequent severe seizure, progressive loss of motor skills and speech, hemiparesis, which means paralysis on one side of the body and cognitive decline. 

The disease progresses rapidly, usually within 8 to 12 months. It is followed by a stable but permanent neurological state. In severe cases the affected part of the brain may be needed to remove surgically to control seizures. 

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Raising awareness about rare diseases is crucial as it helps many recognize their symptoms. It also helps them to know what signs their bodies are giving them and so they can seek medical guidance accordingly. However, unfortunately many of these disease remain without a cure or even a treatment due to lack of research participants and limited scientific studies. Here are five rare diseases that require more attention, more fundings, and more understanding!The Stoneman SyndromeIt is also called Fibrodysplasia Ossificans Progressive or FOP. It happens to 1 in 2 million people. Commonly known as the Stoneman syndrome, it is a rare genetic disorder that causes body's connective tissues, which include muscles, tendons, and ligaments to turn into bone. This can lead to progressive immobility. The condition starts from the neck and shoulders before it spreads downwards. A second skeleton forms through heterotopic ossification (HO), which remains permanent. Any surgical attempt to remove excess bone growth can in fact worsen the condition. Due to this any minor injuries like a fall can accelerate bone formation. FOP is often misdiagnosed as cancer or fibrosis. Alice In Wonderland SyndromeThis disorder is named after the famous novel written by Lewis Carroll. This condition was first described by psychiatrist Dr John Todd in 1955, which causes altered body perception where the individual starts to feel that certain body parts like the head or hands are shrinking or growing. These visual distortions are common with sufferers perceiving objects as too large or too small. Other symptoms may include altered time perception distorted touch sensation and abnormal sound perception. It does not have a cure or treatment, but there are ways to manage symptoms. Hutchinson-Gilford Progeria Syndrome (HGPS)It happens to 1 in 4 million people. HGPS is a rare genetic condition that leads to accelerated aging in children. This is diagnosed in mid-teens to early twenties. Symptoms may include aged appearance with prominent eyes, tin nose and a small chin, hair loss at a young age, fragile bone and joint abnormalities, loss of fat under the skin, and heart and kidney failure. It was first diagnosed in 1886 with over 130 cases being documented. However, there exists no cure as of now. Though there are treatments that focus on managing the symptoms. AlkaptonuriaIt is also known as black urine disease and is a rare inherited disorder where the body cannot fully breakdown the amino acids tyrosine and phenylalanine, which then leads to the build up of homogentisic acid. This causes urine to darken and affects various body tissues. This buildup can stain connective tissues and can lead to joint pain and arthritis, heart valve issues, kidney and bladder stones and dark pigmentation of ears and eyes. Currently no cure exists, however dietary restrictions could help slow disease progression. Chronic Focal EncephalitisThis is also known as Rasmussen’s Encephalitis which has a rate of 2.4 cases per 10 million people in Germany and 1.7 per 10 million people in the UK. This is a rare neurological disorder that happens in children under 10 and causes chronic inflammation in one hemisphere of the brain. It could lead to frequent severe seizure, progressive loss of motor skills and speech, hemiparesis, which means paralysis on one side of the body and cognitive decline. The disease progresses rapidly, usually within 8 to 12 months. It is followed by a stable but permanent neurological state. In severe cases the affected part of the brain may be needed to remove surgically to control seizures. 