July 23, 2024 | 10:01


Rare diseases affect 10.300 Basques and 15% of them minors

rare diseases

Mairenis Gomez

February 29, 2024 | 11:00 a.m.

The current panorama of rare diseases in the Basque Country and its impact on the lives of those affected

Allow me to share with you a reality that, although distant for many, is deeply significant for more than 10.300 Basques and their families. Rare diseases, those unwanted companions of more than 15% of minors in our region, they are not just figures in a report. They are life stories, daily struggles and hopes that are woven into the fabric of our community. Since 2015, when Osakidetza began recording these conditions, we have discovered that we live with 1.126 different pathologies, each with its own name and face. The diseases Rarely, they are chronic, serious and often life-threatening, deeply marking those who suffer from them.

The figures behind rare diseases: a reality in numbers that impacts the Basque Country

The registration rate of these diseases in Euskadi, of 42 cases per 10.000 inhabitants, puts us before a palpable and challenging reality. It is notable that, among these thousands of patients, the distribution by sex is practically equal, although the diseases vary significantly between men and women. This demographic balance forces us to reflect on how individual differences influence our collective health and well-being. The incidence of diseases such as biliary cholangitis or autoimmune hepatitis in women, and hemophilia A and fragile X syndrome in men, highlights the need for a personalized and comprehensive approach to treatment and care.

The daily reality of those affected by rare diseases in the Basque Country

In addition, Rare diseases not only represent a medical challenge, but also a daily obstacle for those who suffer from them. Physical, cognitive, and emotional limitations radically transform daily life, not only for patients, but also for their families. The high mortality and significant impact on quality of life are a call to action for all of us. In territories such as Bizkaia, Araba and Gipuzkoa, the numbers tell us stories of resistance, adaptation and hope, showing that, although diseases are rare, strength and resilience are common.

rare diseases
The current panorama of rare diseases in Euskadi and its impact on the lives of those affected and their families

Innovations and hopes: the treatment of rare diseases in the Basque Country

However, the fight against rare diseases in our community is marked by innovation and hope. The clinical trial for methylmalonic acidemia led by Osakidetza is a clear example of how science and solidarity come together in search of solutions. This trial, the first of its kind in Spain, not only offers new hope for patients but also positions our community as a leader in the research and treatment of rare diseases. The story of Javier de las Heras and the Metab-ERN Center team is one of commitment and dedication, one that inspires and motivates us to continue advancing in this important battle.

Ultimately, rare diseases are more than a medical challenge; They are proof of our humanity, compassion and resilience. As we move forward in understanding and treating these conditions, let us remember that behind every number there is a person, a family, a story. On this day of rare diseases, let us renew our commitment to the health, research and well-being of all Basques, remembering that hope for a better future lies in unity and joint effort.

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