Rare Disease Day 2024

The last day of this month is celebrated as Rare Disease Day.

Which was chosen because the month of February has a special characteristic and that is that one more day is added if the year is a leap year.

For this reason, this month was chosen as a symbolic way to associate this rarity with the disease.

So World Rare Disease Day can be celebrated every February 28 or 29.

This day reminds us that in Spain alone there are more than three million people with a low prevalence disease and that, furthermore, many of them have no cure.

In 2008 it was decided to commemorate this cause, and since then, countries have been added until reaching 106 last year.

The objective is to raise social awareness, and help all affected people to ensure that they receive the proper diagnosis and treatment that guarantees them a better life.

Furthermore, according to the WHO and the opinion of medical professionals, prevention is not only based on “preventing the appearance of the disease, but also stopping its progression and mitigating its consequences.”

In this way, prevention does not mean that the disease does not appear, but also that an early diagnosis is made to act as soon as possible and thus prevent it from getting worse.

Rare Diseases What are they?

These diseases are typically chronic, progressive, and often life-threatening.

In fact it presents pathologies or disorders that affect a small part of the population and generally have a genetic component.

They are also known as orphan, low prevalence or minority diseases.

These diseases present a series of symptoms, sometimes non-specific, and it is very difficult to diagnose their true cause.

The disorders or alterations that patients present have to be evaluated by a specialist.

It depends on each case, and some of them require multidisciplinary teams for their diagnosis and treatment.

Broadly speaking, around 300 million people live with a rare disease in the world, between 3.5% and 5.9% of the world’s population, and it not only affects patients, but also their families and caregivers. .

72% of rare diseases are genetic and 70% of rare genetic diseases begin in childhood.

However, not all rare diseases are of genetic origin.

They can also be of bacterial or viral origin, resulting from immunodeficiencies; as well as caused by rare allergic reactions or rare cancers.

Many rare diseases have their own international or world day.

For example, European Alpha-1 Day was first celebrated on April 25, 2018, promoted by the Global Alliance of Patient Associations, Alpha-1 Global.

Since then, the Alfa-1 Spain Association has promoted the commemoration through various actions and activities for information, awareness and visibility of the Alfas.

In this way, we gradually achieve that the entire community linked to alpha-1 antitrypsin deficiency (AATD) recognizes the date and gets involved in the scheduled events.

In 2024, the Spanish Alfa-1 Association promotes different training, dissemination and awareness actions for Alfa-1 under the hashtag #elAlfa1exist, which are concentrated in 2 events:

Furthermore, it organizes the IV National Meeting of patients, a training and updating activity on Alfa-1 aimed at people who suffer from the deficiency.

It seeks to provide those affected with better knowledge of this condition and generate ties personal with other patients.

The meeting will take place between Friday, April 19 and Sunday, April 21 in the city of Zamora.

On the other hand, on April 25, the installation of information tables about Alfa-1 and the importance of increasing plasma donations is promoted.

With this action we will give more visibility to the group of people affected by DAAT among the general public and health professionals themselves. They will be attended by volunteers.

What is Alpha-1 Antitrypsin Deficiency?

AATD is an underdiagnosed genetic condition.

It affects 1 in every 2,500 people.

It is estimated that in Spain there are between 12,000 and 14,500 people with severe deficiency, the majority undiagnosed.

Early detection helps prevent or delay the development of associated diseases and improves prognosis.

To combat this disease, patients need to be treated with so-called orphan drugs, which serve to prevent and treat the pathology.

Its composition is based on biotechnological compounds whose manufacture is very expensive, for this reason, today more than ever, the cooperation of governments and people is needed.

Plasma donors, in the case of AATD, are essential to make its treatment accessible to a greater number of people diagnosed with this disease.

For many thousands of people with rare diseases, medicines derived from blood plasma are essential.

However, Spain is forced to import most of the plasma that these patients need, because plasma donations are low and much lower than the European average.

Imagine how complicated it is when 900 plasma donations are needed to treat a patient with Alpha-1 lung disease.

Promoting political decisions that facilitate donations and raising awareness among the population about the value of plasma are the basis that supports being able to modify this situation.

Research on Rare Diseases and the collaboration of Associations

People living with a rare disease around the world struggle to achieve a diagnosis and access therapies, services and appropriate health and social care.

The impact of living with a rare disease goes beyond health, it affects all aspects of the lives of people living with a rare disease and their families.

Research, medical knowledge and experience on rare diseases is limited, but essential to continue advancing and discovering more effective treatments.

From the Andalusian Alfa-1 Center in Granada we give our support to all affected people and their families.

Likewise, we thank all the associations for the great work they do with patients and families, and all the professionals who care for them for the great care work they do.

Fuente: Centro Andaluz Alfa 1, FEDER

Centro Andaluz Alfa-1