25 Mar Rare diseases
A rare or infrequent disease is characterized by low prevalence in the population, this means that it affects less than 1 in 2000 inhabitants. Rare disease patient associations say that despite the unusualness, having a rare disease is not that difficult.
In the words of the Spanish Federation of Rare Diseases “It can happen to anyone, at any stage of life.”
The World Health Organization (WHO) has today defined nearly 7,000 different diseases and in Spain alone it is estimated that there are approximately three million people who suffer from one of these rare diseases.
Example: Imagine 37 full buses and that 1 person on each bus has one of these rare diseases. That’s weird.
This is the same as saying that the sum of all of them in Spain would be equivalent to the population of Seville, Valencia and Barcelona together. It is not so rare to suffer from one of these 7,000 pathologies.
What this means for patients with these diseases is that 8 out of 10 have fewer resources and help tools than for other pathologies in general, according to the Spanish Federation of Inherited Metabolic Diseases (FFEEMH). Logically, this leads us to the fact that few of these affected people have a treatment and if they do have one, it is usually not the correct or most appropriate one.
An early diagnosis could prevent an aggravation in 30% of cases in which a rare disease is suffered.
The most common difficulties, out of every 20 patients:
- 4 have physical disabilities.
- 2 have intellectual disabilities.
- 8 have chronic pain
80% of these diseases are of genetic origin
To all this we must add the great ignorance about the origin of some of them since after studying them only 50% of the genes responsible for these pathologies are known. Many of them occur before the age of 2, however there are many others, such as Huntington’s disease, which is always diagnosed in adulthood.
50% of rare diseases have a genetic origin and we know the causative genes, the other 50% have another origin and also present neurological manifestations.
In these cases, any activity of daily life becomes a great challenge. Every day new methods of help with Devices / Adapters / Tools are studied to try to ensure that patients who suffer from them have great support in them and thus promote and facilitate a better quality of life and autonomy.
28 February
WORLD RARE DISEASE DAY
According to the Map of Rare Disease Research Projects (MAPER), there are almost 800 projects on active diagnoses and treatments.
The greatest hopes are placed fundamentally on gene therapies.
THERE IS A LOT TO DO AND RESEARCH.
#VisibleAllYear
