Five Rare Diseases That Have No Cure

Some diseases are so unique it is hard to believe they exist. 

There is a disease that turns most of the body into bone. Another one begins to age the body in early childhood. Other diseases can only be found in certain regions of the world. 

These diseases are rare and affect one in a million. Even though they are rare, as doctors, it is essential to know about them. As a medical professional, you may not encounter a patient with a rare disease in your career. However, assuming you will never ever meet a patient with a rare disease is wrong. 

As a doctor preparing for super speciality, you must be aware of the outliers among diseases. 

A study conducted by Dariusz Walkowiak and Jan Domaradzki titled, “Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study” shows that although most medical professionals are aware of the term ‘Rare Diseases’ and have heard about them, more than 90% have insufficient knowledge and are not prepared to deal with rare diseases. 

In this blog post, we shall go through some of the rarest diseases ever known to mankind. So read this blog post until the end, scale up your NEET SS preparation, and boost your medical knowledge as super specialists of the future. 

Let’s begin. 

Chronic Focal Encephalitis (Rasmussen’s Encephalitis)

Rasmussen’s encephalitis is a condition that usually occurs in children under the age of 10 years and, more rarely, in adolescents and adults. This condition is characterised by frequent and severe seizures, loss of motor skills and speech, hemiparesis or paralysis on one side of the body, brain inflammation or encephalitis and deterioration of mental state. 

During treatment, it can lead to the removal of the affected part of the brain in the patient. Brain damage is progressive in the affected region, and this takes place over the course of 8 to 12 months. 

The patient enters into a state of permanent neurological deficit and ultimately enters a state of disability.  

Also read: Most Commonly Used Surgical Instruments

Stoneman Syndrome

Fibrodysplasia ossificans progressive (FOP) is a condition also known as Stoneman Syndrome. In this condition, the body slowly turns the body’s connective tissues, including tendons, muscles and ligaments, into bone. 

The progression of this condition starts from the neck down and moves to the shoulders. Over time, it gradually proceeds to the lower body and ends at the legs. Progressively all body movements are restricted because it affects the joints. The patient also finds it difficult to open his/her mouth, and this, in turn, causes problems while eating or speaking. 

Over time, the patient develops a second skeleton, and all efforts at removing this second skeleton can be dangerous because it can trigger aggressive bone growth in the patient. Individuals who are affected by this condition can lose their mobility after a minor fall or accident because it can stimulate bone growth. 

This condition currently has no treatment due to its rarity. The Stoneman Syndrome affects one in two million people. 

Alice in Wonderland Syndrome (AIWS)

Dr John Todd, a British psychiatrist in the year 1955, first described AIWS. He named it as Alice in Wonderland Syndrome from the famous novel by Lewis Caroll. He said the symptoms of the illness resemble the events experienced by the character Alice in the novel. 

Altered body image is the most prominent and disturbing symptom that patients experience. Patients are unable to accurately judge the size of their body parts. Their depth perception also goes for a toss. 

Objects might appear farther or closer than they actually are, and corridors might seem longer or shorter than they are in real life. Cars, people, buildings and almost anything might look the wrong size. 

Here are a few other symptoms experienced by people with AIWs:

1. A distorted perception of time. Time either moves too quickly or too slowly. 
2. A distorted perception of things. For example, the ground beneath their feet might appear spongy or feel like some other material than earth. 
3. A distorted perception of sound. 

Also read: Medical News Bulletin Edition 18

Hutchinson-Gilford Progeria Syndrome (HGPS)

HGPS is an extremely rare disease that has a frequency of one in four million. Since 1886, only 130 cases have been reported in scientific literature. Currently, there is no known cure for this condition. 

Patients affected by this condition appear to age at an early age. Those who are born with this condition typically only live till their mid-teens or their early twenties. The facial appearance of patients with this condition includes prominent eyes, a thin beaky nose, thin lips, a small chin and protruding ears. 

HGPS symptoms include the following:  

• Alopecia (hair loss)
• Aged-looking skin
• Joint abnormalities
• Loss of fat under the skin (subcutaneous fat)
• Kidney failure
• Loss of eyesight
• Brittle, fragile bones

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Alkaptonuria

Alkaptonuria is also known as ‘black urine disease.’ It is a rare inherited disorder that prevents the body from completely breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. This is a rare condition that affects one in a million people globally. 

Due to the inability of the body to break down the proteins, a chemical called homogentistic acid is built up in the body. 

In the body, amino acids are usually broken down in a series of chemical reactions, but in this condition, homogentistic acid cannot be broken down any further because the enzyme that usually breaks it down stops working. 

The chemical build-up can result in almost any part of the body including the cartilage, tendons, bones, nails, ears and the heart. The chemical build-up stains the tissues dark and causes a wide range of problems. 

Patients affected by this condition have a normal life expectancy. However, their quality of life is affected. 

And that is it! These are some of the rarest diseases to exist in the world that have no known cure till now. 

As super specialists of the future, you must be aware of these rare diseases enough to at least identify them should you ever encounter one. There is never any guarantee that you will never encounter any rare disease in your career as medical professionals. Therefore, it is best always to be prepared.

Also Read: Most Commonly Used Surgical Instruments 

Before we conclude this article, have you read about the 7 essential qualities of a successful surgeon? Give it a read if you haven’t! 

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