Welcome to the Official page of the Presidency of the Portuguese Republic

Portugal is greatly pleased to welcome the II Iberian American Conference on Rare Diseases.

Several countries, from different continents, with multiple experiences, have met in the Casa dos Marcos during the latter week, with a common topic: rare diseases.

It is important and urgent that we do so, for all possible reasons, but also because we do not yet have a standard of the prevalence (the WHO has not yet adopted it), from which we would be able, or not, to classify all rare diseases.

We equally are not yet aware, (we can only estimate), how many rare diseases exist and what is their real size. In Portugal we estimate there are between 600,000 and 800,00 persons, i.e. between 6% and 8% of the population, - suffering from such diseases and that, in the current concept of a rare diseases, there are between 5,000 and 8,000 different pathologies. We are thus within a universe where there is still much to be discovered.

We know that, for many rare diseases, even if identified, the causes continue unknown but that the symptoms are common to all: lack of autonomy, disability, chronic, degenerative, continued palliative care adequate to the symptoms and demanding psychological, economic and cultural social aid for the patient and respective family.

But rare diseases are also demanding the attention of worldwide researchers for the discovery of new pathologies, methods and new molecules that may provide us with the hope for the effective treatment of these thousands of different pathologies.

“Raríssimas” is again, as it has been over the last twelve years, in the front line of this battle and of this concern.

Aware of these difficulties, but conscious of the hope based on research, “Raríssimas” has already placed itself within the realm of the discovery of new diseases and new treatments, and is implementing its own Research Centre, which it has named Rare Diseases Research Centre, to very soon become effective here, in the Casa dos Marcos and under the guidance of one of the most brilliant Portuguese researchers who is with us here today, Maria do Carmo Fonseca.

Progress reached in the approach to some of these diseases provide us with the drive not to give up and to join efforts to continue developing concerted efforts within the scope of scientific research, health, social solidarity and education.

We have witnessed the launching of specific initiatives for the support of these diseases (which we term as rare or orphan) in the community, and as far as possible all over the world, but with greater attention in Europe and the USA.

Rarity, grievousness and multiplicity of the diseases are still unfavourable factors for the sustained and successful interventions by the several sectors.

I believe that the meeting carried out amongst these ten countries is the recognition that it is our duty to fully share in the intervention, perceiving each one’s reality in terms of resources and the needs and expectations of those affected and their families.

Responsibilities and initiatives must be shared amongst each country’s public policies, those affected or their representatives, and amongst individuals and bodies responsible for health care, researchers and pharmaceutical companies as well.

The setting up of data bases, essential for epidemiological assessments and the creation of consensus for the diagnosis, treatment and prevention are as relevant as the creation of reference networks that interconnect the structures of research, diagnosis and health care with the resource centres that shelter the deceased.

The only Centre of Resources for Rare Diseases in Europe, the Casa dos Marcos is now nascent in Portugal, with a comprehensive model, that brings together all answers, from A to Z, which are required by the diseased and their families.

We want Casa dos Marcos to position itself as a centre of excellence, not just because it is so, but because it deserves a serious reflection with regard to the support required for its activities.

All of us here, all which have taken part in the II Iberian American Conference on Rare Diseases, are very pleased with today’s results. We have witnessed the birth of a pioneering project, also financed by companies that are compliant with their social responsibility.

We know that these projects are difficult and that difficulties never cease, rather grow from day to day, because their operation is very demanding. I sincerely hope this ship can overwhelm the storms that certainly lie ahead – the times are not easy. Many are the obstacles it will find on its way and all that work with “Raríssimas” are aware that this is not an easy life.

The success that I wish you all from deep in my heart is on behalf of those that see in this home a shelter for their distress and their problems.

I am proud to have accompanied this project since its very beginning, but I am still happier to have found out today that my very rare godchildren have at their disposal treatments and conditions that would probably not be available elsewhere.

To you all I leave my deep feeling of a mission accomplished. “Raríssimas” have the necessary capability to grow and I know it will do so with all the drive it has shown throughout these years of struggle, victories and stubbornness that has never allowed it to slow down.

Victories are achieved through small defeats. Follow their example and the victory is yours.