Rare Disease Day

February 28, 2025

The last day of February is celebrated as World Rare Disease Day.
The day on which it is celebrated was chosen because it is a month different from the others, due to its exceptional nature.

It was proclaimed by EURORDIS (European Organisation for Rare Diseases) in 2008, with the aim of improving access to treatment, as well as medical research.
Since then, this day is celebrated every year, on the last day of February, with a new and original motto.

This year the motto is “people”, which tries to put people at the centre of the message and highlight the impact that living with a rare disease has, which is unknown to most.
Therefore, it is intended to emphasise that behind every campaign, every need, every disease, every symptom… behind all of this there are people and families.

History of Rare Diseases

Its history dates back to the 1980s, when rare diseases have gradually become a priority in health programs and in public opinion.
They are defined as those with a prevalence of less than 1:2,000 individuals.

In general, they are chronic, debilitating diseases with more than 80% of genetic origin.

Rare diseases in numbers

It is estimated that around 80% of rare diseases are of genetic origin and less frequently are the result of infectious, immunological, degenerative or proliferative diseases.
Furthermore, a very small number of them, no more than 400, have treatment available.

Why are they rare diseases?

Not only is there less medical knowledge because of their low individual prevalence, but from a medical management perspective, rare diseases are characterized by the large number and diversity of conditions and symptoms.
Not only do they vary from condition to condition, but they can also vary within the same condition.

Diagnosis

Diagnoses are usually late, in general terms, rare diseases are underdiagnosed due to their low prevalence, so there is less knowledge and little specificity.
This is associated with an increase in cost, and we know that it further harms the quality of life of patients and their families, since they must consult several specialist opinions before reaching an accurate diagnosis.
Because many of them are genetic, tests are carried out on a preventive basis, since many rare diseases appear at early ages.
Genetic analysis in patients who may apparently suffer from a rare disease requires precision.

In general, the vast majority of times it is based on a molecular study, either of the specific gene associated with the disease in question, or of panels that include the different genes that may eventually be responsible for a certain phenotype and that allow the underlying molecular alteration to be accurately identified.

As mentioned, the symptoms or pathologies can be very heterogeneous.
As a result, the intervention of several medical specialists and subspecialties is required.
If it is suspected that they may be related to multiple genes and mutations responsible for the condition, as well as polymorphisms that regulate their expression, this great complexity can be explained.

Genetic counseling

Genetic counselling is the provision of information from specialists to patients and family members who have a genetic disease or are at risk of having one.
In this way, people can decide on their reproductive alternatives.

Networking

The importance of networking in research

There are numerous research centres around the world, and most of us are interconnected, as we have a common goal: finding solutions adapted to specific problems.
Otherwise, people with a rare disease would be harmed in two ways:
Presenting a severe and possibly chronic disease.
On the other hand, being underdiagnosed and having difficulty accessing treatments.

We are in contact with all the Alfa 1 Centres of Excellence located in Spain, such as:

In addition, we are part of some scientific-medical groups that are aligned with international research centers dedicated to the study specific diseases, including Alpha 1 Antitrypsin Deficiency.
In this case, we collaborate with some such as:

Patient Associations

Last but not least, patient associations are the way for patients and their family members or caregivers to find the answer to many of their problems.
The low prevalence forces them to join forces and empower themselves to face the different challenges associated with living with one of these conditions.
In addition, patient associations are necessary, since in order to meet objectives, a coordinated effort is imperative to achieve significant changes and be considered by researchers and the medical community.
On the other hand, it is also key to be heard by those in charge of managing health policies.
Patient organizations intervene in different aspects:
From the financing of research to the regulatory aspects of the marketing of medicines, including the production of reliable educational and informational material; as well as the design of public policies and the implementation of projects.

Conclusions

In general terms, it is understood that regardless of the number of rare diseases that exist, patients and their families are governed by a common denominator:
The difficulties they face every day to lead a life in normal conditions.
So below we show the major challenges that arise in their daily lives:

Lack of accurate information about the disease, as well as places to find support and assistance.
Less rigorous scientific knowledge, and therefore, less investment in strategies to provide greater accessibility to therapies, treatments and specialists.
Underdiagnosis, due to lack of knowledge of the disease and the late appearance of symptoms.
Lack of health care, since these require multidisciplinary assistance, that is, psychologists, therapists, nutritionists… many of whom are excluded from the public health system.
Treatments and medications that are difficult to access, added to the additional expense for specific needs that arise when suffering from one of these diseases.
Social consequences due to stigmatization, whether at work, schooling, insurance, recreational or sentimental life.

Source: Elsevier