Rare Diseases

Table of contents:

  1. What are rare diseases?
  2. Prognosis and symptoms of rare diseases
  3. Medical tests for rare diseases
  4. What are the causes of rare diseases?
  5. Can rare diseases be prevented?
  6. Treatments for rare diseases

What are rare diseases?

Rare diseases, also called minority or orphan diseases, are diseases that affect only 1 person out of 2,000. To be considered as a rare pathology, it can only affect a limited number of people: less than 5 per 10,000 inhabitants.

There are more than 6,000 rare diseases. Most of them are chronic, degenerative and non-contagious. The most frequent rare diseases in Spain are:

  • Types of anemia
  • Amyotrophic Lateral Sclerosis (ALS)
  • Cystic fibrosis
  • Mitochondrial pathologies
  • Pompe disease
  • Joubert’s syndrome

Even so, there are about 7,000 rare diseases in the world with different symptoms and disorders, even within the same disease.

Prognosis and symptoms of rare diseases

65% of these diseases are severe and disabling and affect mental abilities, physical capacities and sensory and behavioral qualities, even leading to single or multiple handicaps and chronic pain.

Almost all these pathologies appear in the pediatric age, due to their genetic origin and congenital anomalies. That is to say, they usually have an early onset, appearing around the age of 2 years.
On the other hand, many patients present chronic pain and development of motor or intellectual deficit, which makes them lose their autonomy.

See also  Forensic Psychology

Although these diseases are characterized by their low prevalence in the population, they have a high mortality rate. In general, they present a chronic and severe course, characterized by motor, cognitive or sensory impairment.
Rare diseases are usually responsible for 35% of deaths occurring before the age of one year and 12% in people between 5 and 15 years of age.

The average time to reach a proper diagnosis is about 5 years.
diagnosis is about 5 years.

Medical tests for the detection of rare diseases

When a rare disease is suspected, it is advisable to perform a genetic test. Knowing whether there is a genetic cause makes it possible to know the evolution of the pathology and to anticipate the symptoms.

However, in many cases, a confirmed diagnosis can be very difficult to obtain. The average time is about 5 years and, in some patients, it can take 10 years before they are diagnosed with a rare disease.
Genetic testing consists of a blood test, or in some cases a saliva test.

What are the causes of rare diseases?

The exact causes of these diseases are not known, although it is estimated that 80% of them are of genetic origin.

Can they be prevented?

It is not possible to prevent rare diseases, since the causes, in most cases, are genetic. However, early detection is very important to take therapeutic measures or delay symptoms.

What is the treatment of rare diseases?

Orphan drugs are drugs that are used to treat these diseases. However, it should be noted that they are only effective in 10-15% of rare diseases, and never to cure them, but to control them or delay their onset.

See also  Colectomy

The problem is that the process from the discovery of a new molecule until it is commercialized is very long, unsafe and requires a very high investment, so that in general the capital invested for its research cannot be recovered and neither does it guarantee an effective treatment.