Foreward

In the last years, the problem of "rare diseases", i.e. diseases with a very low prevalence and few or no treatment options has increasingly grown in the scientific world and in the public opinion. In consideration of the small number of patients who could benefit from a new therapy, there is a lack of research investments made by the pharmaceutical industries in this field.

Thus, the current interest in these diseases is not the result of a choice made by "pharmaceutical companies", but is due to the initiatives of patients' families, who set up associations that have managed to draw the attention of the scientific community, health institutions and the public opinion to the disease and to the needs of patients and their families.

The history of A.I.S.EA is an emblematic example for every association that would like to reach the same goals.

Alternating Hemiplegia is a "very rare" disease, with a prevalence of 1/1.000.000, which is well below the minimum prevalence (5/10.000) required for the disease to be recognized as a "rare disease" by WHO.

The rarity of this disease was a real obstacle to its understanding and diagnosis by expert physicians, such as neurologists, child neurologists and pediatricians. Moreover, in Alternating Hemiplegia there are no diagnostic, instrumental, biochemical and genetic investigations that can provide a pathognomonic and exclusive picture. This makes it easier to understand the real difficulties related to a correct diagnosis.

Therefore, the first goal was to drive experts to understand and recognize the disease.

Thanks to A.I.S.EA which organized meetings and promoted informational activities, this topic was then included in scientific programs.

This resulted in revealing a number of misdiagnosed cases and so favouring the growth of the Association.

The Association has always been sensitive to both social matters and the aggregation and support role towards parents.

But in these last few years its most distinguishing feature was the boost towards scientific research, as its members were aware that no one else would play this role and that this was the only way available to find a treatment or prevent the disease.

For this purpose, a Scientific Committee was set up right from the first year. This Committee consists of experts and specialist physicians in Alternating Hemiplegia and in those medical fields where research is supposed to develop: genetics, movement disorders, etc.

The association of patients and the creation of a Clinical Database, linked to a Bank of biological samples, made it possible to gather extraordinary caserecords.

From the very beginning, the Association was open to international relationships with similar associations in foreign countries by offering both "hospitality" to patients’ families and by including international experts in scientific meetings.

Moreover, with great effort, the Association managed to fund research projects, which are now giving their first results.

This activity was also recognized and supported by the National Centre for Rare Diseases of the Italian National Health Ministry.

The White Book describes the different activities of the Association, and provides an updating on all aspects of the disease.

It is the final product of a close collaboration between experts and patients’ families and is addressed to both families and health-care workers involved in the management of the disease.

Knowledge and information are the basis for any social and scientific progress.

This book will certainly give a further contribution to the fight against Alternating Hemiplegia.

Professor Federico Vigevano

Authors
Dr Tiziana Granata
Neurologic Institute C. Besta,  Milan
Pr  Federico Vigevano
Child Hospital Bambino Gesù, Rome

Editorial Coordination
Rosaria Vavassori
A.I.S.EA Onlus

Publisher
Edizioni "La nostra Famiglia"
Collana Medea Strumenti

To receive the paper copies, please contact  A.I.S.EA Onlus