Every year, the last day of February is observed as a Rare Disease Day globally to educate and raise awareness among the general populace about the numerous rare diseases detected throughout the world and their impacts on the patient’s life. This year Rare Diseases Day falls on February 28th, the theme for which is "Share Your Colours!" (a continuation of the 2022 theme). The preliminary goal of this day is to encourage policymakers and researchers to address the necessities of those living with rare diseases.

Rare Disease Day was established by the European Organization for Rare Diseases, in 2008 on February 29. This date was selected as it is a rare or unique date that comes up only once every four years; signifying the theme of the health day. Since then, Rare Disease Day has been observed on the last day of February, a month which is known for having a rare number of days.
 

What Is A Rare Disease?

A disease is deemed to be rare when it affects fewer than 1 in every 2,000 people. These are those unknown diseases that are extremely life-threatening or persistently disabling mainly arising due to alterations in genes or chromosomes. However, there are more than 300 million people throughout the world who are living with one or more of over 6,000 identified rare diseases around the world, a few of which are primarily without therapies or treatments due to a severe lack of scientific investigations and information.

In this 2-minute read, we bring you five such extremely rare diseases that have been detected globally that need further scientific investigation, funding and public understanding for finding an absolute treatment.

5 Rare Diseases Detected From Around The World

RPI Deficiency  

This is one of the world’s rarest diseases because there is only a single case of RPI deficiency in the world. RPI stands for Ribose-5-phosphate isomerase which is an essential enzyme required for the metabolic pathway in the human body. This condition is deemed to be genetic and has been detected in a single patient born in the year 1984, and to this day the molecular cause of the genetic pathway defect that occurred in the patient remains undiscovered.  

This rare condition was documented to cause severe symptoms such as seizures, muscle spasticity, optic atrophy, ataxia, leukoencephalopathy (reduction in the white matter of the brain), mental retardation and delay in mental and physical development.

Also Read: Von Willebrand Disease – Causes, Symptoms And Treatment

Stoneman Syndrome

Medically termed, Fibrodysplasia ossificans progressive (FOP), in this unusual disease, the connective tissues in the body such as the tendons, muscles and ligaments gradually turn into bones, giving the colloquial name Stoneman. 

The progression of this disease chiefly initiates from the neck to the shoulders, and gradually proceeds to the lower parts of the body and finally to the legs restricting normal body movements like walking, talking or opening the mouth to eat. In this case, a second skeleton grows over the first, in a process known as heterotopic ossification (HO); which is usually permanent, and surgical efforts to remove bone growth might stimulate extreme growth of bones due to the invasiveness of the procedure. This condition is observed in 1 out of 2 million people and still does not have any treatment options due to its rarity.

Hutchinson-Gilford Progeria Syndrome (HGPS)

More commonly known as Progeria, this disease has been detected in about one in every 8 million live births and those born with HGPS may live to their mid-teens to early twenties.

This genetic condition mainly causes the appearance of rapid ageing beginning in early childhood. Symptoms are often manifested in the form of alopecia (baldness), aged-looking skin, a large head relative to their body size, loss of eyesight, brittle bones, joint abnormalities limiting motion, kidney failure and most tragically, a hardening of the arteries in many cases, which increases the incidence of heart attack or stroke at an early age.  

In medical history, only about 100 cases of Progeria have been documented with few patients living into their 20s and no documented cure.

Also Read: Horner's Syndrome: Causes, Symptoms And Treatment

Methemoglobinemia

Known commonly as a Blue skin disorder, this disease is portrayed by an abnormal amount of methaemoglobin, a type of haemoglobin that's transformed to carrying iron, in a person's bloodstream making their skin, lips, and nails appear blue. In a healthy individual, there is less than 1% methaemoglobin in the bloodstream, whereas those who suffer from blue skin disorder usually possess between 10% and 20% methaemoglobin. Since, iron-carrying haemoglobin carries only a diminished amount of oxygen, patients diagnosed with methemoglobinemia are at an aggravated risk of developing heart aberrations, such as a seizure, or may even die prematurely due to heart problems.  

Methemoglobinemia is a genetic disorder that has come into the limelight due to a single family in Kentucky that appears to have been passing this genetic trait onto its family members for some 200 years.

Rasmussen’s Encephalitis  

Rasmussen’s encephalitis medically termed Chronic Focal Encephalitis is described as a chronic inflammatory neurological disease that usually affects only one hemisphere (half) of the brain. It is mainly detected in children under the age of 10 and is primarily characterized by frequent and severe seizures, paralysis on one side of the body (hemiparesis), loss of motor skills and speech, inflammation of the brain (encephalitis), and mental deterioration that can eventually lead to the destruction or removal of a part of the affected child’s brain.  

Most individuals suffering from Rasmussen’s encephalitis experience frequent seizures and progressive brain deterioration in the affected hemisphere of the brain throughout the first 8 to 12 months, and then enter the second phase of permanent, but stable, neurological shortcomings.

At present, there are certain treatments to diminish brain inflammation if the condition is detected at the acute stage, but there is no permanent treatment to ultimately prevent this disability.