A minority of three million

When we study the words that are used in Spanish, we group the frequent ones into a nucleus and, around it, those that are used less.

And those groupings are very useful, for example, when a language is taught as a foreign language.

is studied

, while at more basic levels the word

would correspond .

In addition to the common words that we all use, there are the occasional ones (this week, for example, the expression "motion of censure" was recovered in Spain, which is not part of our daily vocabulary).

And after the words in common use, shared daily in society, and the ones we use more sporadically, there are the words of each one, those of each house and each family, which intensify their value by naming the intimate reality of each one. .

Perhaps for some that word is "solitude", for others it will be "retirement" or, for some, "rent".

Listening a few days ago on the news to the queen's intervention in the celebration of World Day for Rare Diseases, I wondered what would be the daily lexicon of those families who were in the public, families that alternate common words such as “bus”, “ dinner” or “supermarket” with terms that other families don't even know exist (“phenobarbital”, “spasticity”) and with proper names that sound to them as if they were real people from their environment (Sjögren, Gilbert).

Talking about the day-to-day life of patients with rare diseases helps to gradually normalize an unknown lexicon outside the medical field, a set of words that, on the other hand, are part of the common dictionary of those affected by these diseases.

Rare diseases are those that affect a limited proportion of the total population, with a meager prevalence: less than five out of every 10,000 inhabitants.

But the fact that the proportion is low does not mean that there are few patients or few diseases: there are more than 7,000 rare diseases, more than 800 of them unidentified.

In Spain this amounts to three million affected.

Three million people are, to give you an idea, somewhat less than the population of the capital Madrid.

It's not so weird anymore, is it?

No, it is not uncommon to suffer from a rare disease, but again here the language misleads us.

The expression “enfermedades raras” is a bad translation, which follows the English “rare diseases”.

The adjective

in Spanish points to the strange and the abnormal (what is

in English ), and that misleads the social masses involved.

More precisely, this adjective should have been translated into Spanish as "minority" or "infrequent", but it is too late.

On the other hand, at a time when minorities are increasingly cared for, talking about minority diseases or those that affect a minority would raise awareness and help to perceive the neglect suffered by those affected by these diseases and their families.

These are diseases, in general, chronic, degenerative, more than half disabling;

on them there is no pressure or research urgency that we have seen developed against the covid.

In fact, it has been necessary to legislate specifically so that it compensates the pharmaceutical industry to commercially develop drugs that alleviate their conditions: they are the so-called "orphan drugs", which are distributed under different market conditions from the drugs of more general use.

The adjective "orphan", so dangerously close to the realm of compassion, is also debatable, but, again, it is the one that has become widespread.

Orphan drugs meet the demands for universal public health that we have been developing for decades, but do not financially reward their manufacturers by themselves, which is why they are encouraged by the respective countries for their manufacture and trade.

The clinical trials tested on a limited number of patients, the absence of treatments with which to compare and the tests carried out in early phases also make them different in research methodology compared to other drugs that are not orphans.

In Spain, the associative fabric around rare diseases tries to ensure that those affected do not feel starved for care, promotes that orphan drugs are quickly incorporated into the National Health System, that the diagnosis of patients is accelerated (or that achieve, because there are patients who lack it) and to increase research and respite programs.

But they get little media attention outside of Rare Disease Day (February 28) and it perplexes me that something that affects three million Spaniards is not in the news every week.

For this reason, we must be grateful that institutions such as the Casa del Rey have decided to embrace this cause, publicly endorsed by Queen Letizia for years.

And for this reason, although Rare Disease Day has already passed,

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