Written By: Mrs. Mayuri Mathur

Published On: 20 Feb, 2023 3:14 PM | Updated On: 15 May, 2024 5:25 PM

Rare diseases and their manifestations

Many people may think that rare diseases occur only in special populations; however, these diseases can afflict anyone at any age. They can be acute or chronic; some may be debilitating and present an ongoing risk of death, while others may be inevitably fatal, given current medical options. 

Spreading health awareness enables individuals to understand their health condition and if it could be cured. However, unfortunately, many rare diseases are without cures or treatment currently due to the significant lack of people available to participate in scientific studies.

What is a rare disease?

 Diseases are considered rare when they affect a small number of people compared to the general population. A disease can be rare in one region but common in another. 

How many rare diseases do we know?

To count there are thousands of rare diseases. Interestingly, new diseases that might be rare are regularly described in the medical literature.

How do rare diseases originate?

Nearly all genetic diseases are rare, but not all rare diseases are genetic. Rare infectious diseases also exist, like auto-immune diseases and rare cancers. Still, the cause of many rare diseases remains unknown.

How do rare diseases look like?

Rare diseases represent a subset of severe, often chronic, and progressive diseases. Many rare diseases may show signs at birth or in childhood (like proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia, or Rett syndrome); still, over 50% of rare diseases appear during adulthood (like Huntington's disease, Crohn disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma or thyroid cancer).

What are the medical consequences of these diseases?

The field of rare diseases needs more medical and scientific knowledge. Most rare diseases still struggle to get a cure, but the appropriate treatment and medical care have been shown to improve the quality of life and extend life expectancy. 

Given the rarity of these diseases and inadequate reporting, individuals affected by these diseases need help in receiving a diagnosis, relevant information, and proper direction from qualified professionals. 

How do these diseases affect individuals socially?

Individuals affected by rare diseases tend to be more psychologically, socially, economically, and culturally vulnerable. However, appropriate policies could overcome these difficulties. The lack of sufficient scientific and medical knowledge limits diagnosis, thus causing the disease to remain unidentified and abstaining the patient from receiving appropriate support.

What are the advancements in the diagnosis and treatment of rare diseases?

Advancements in science have enabled us to diagnose hundreds of rare diseases through a biological sample test. Researchers are increasingly sharing the results of their research in emerging medical platforms. 

Here are some interesting rare diseases that demand more scientific investigation, funding, and public understanding-

Ø  Stoneman Syndrome

Fibrodysplasia ossificans progressive (FOP), aka Stoneman Syndrome, is known to gradually turn connective tissue such as tendons, muscles, and ligaments into bone.

The disorder starts from the neck and progresses to the shoulders, the lower parts of the body, and finally to the legs. It restricts the body's movements progressively because the disorder affects the joints. It can even cause difficulty in opening the mouth, which can cause trouble while eating and speaking.

This condition currently has no treatment options due to its rarity.

Ø  Alice In Wonderland Syndrome (AIWS)

This disorder represents the most prominent and often disturbing symptom of altered body image. The affected individuals find that they are confused as to the size and shape of their body parts. Involvement of the head and hands are often reported where growth seems more usual than shrinkage.

It also distorts visual perception, making the sufferer see the objects with the wrong size or shape and/or find an incorrect perspective. Other symptoms of this disorder include Distorted time perception, where a person thinks that time is moving quickly or slowly; Distorted touch perception; and Distorted sound perception.

There is no treatment for AIWS, but treatments for possible causes exist.

Ø  Hutchinson-Gilford Progeria Syndrome (HGPS)

It represents an extremely rare genetic disorder in which the symptoms resemble aspects of aging at a very early age. These individuals typically have a shorter life, ranging from mid-teens to early twenties.

HGPS's characteristic facial appearance shows prominent eyes, a thin beaky nose, thin lips, a small chin, and protruding ears. The individuals may show Alopecia (hair loss), Aged-looking skin, Joint abnormalities, Loss of fat under the skin (subcutaneous fat), Kidney failure, loss of eyesight, and Brittle and fragile bones.

Currently, there is no known cure for HGPS.

Ø  Alkaptonuria

Alkaptonuria, aka "black urine disease," is a very rare inherited disorder that causes an improper breakdown of two protein building blocks (amino acids) called tyrosine and phenylalanine. The disorder then leads to a build-up of a chemical called homogentisic acid in the body, which further turns urine and body parts a dark color and causes numerous problems over time.

People suffering from this condition have a normal life expectancy but a lesser quality of life. Currently, no specific treatment or cure exists, but a certain diet is recommended to decrease the build-up.

Ø  Chronic Focal Encephalitis (Rasmussen's Encephalitis)

Rasmussen's encephalitis is often reported in children under ten years of age (more rarely in adolescents and adults). It represents frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. It can cause the destruction or removal of a part of the affected child's brain.

The individuals may also experience frequent seizures and progressive brain damage in the brain's affected hemisphere over the first 8 to 12 months and then enter a phase of permanent but stable neurological deficits.

Available treatments may decrease brain inflammation at the acute stage but can't prevent ultimate disability.

The bottom line-

Although rare diseases affect very few individuals, they may significantly impact their health and social lives. Early recognition of symptoms and timely management is crucial in preventing disability and improving the quality of life.

Individuals experiencing unusual symptoms should immediately approach their healthcare physicians to receive proper treatment.