Rare diseases: giving a voice to many of the few

Working in the world of rare diseases, we realize how crucial awareness and accurate information are in addressing conditions that affect millions of lives, even though they are rare individually. HCC's experience has led to the creation of campaigns, such as "Life in a Breath" on pulmonary arterial hypertension, in collaboration with dedicated partners and compelling testimonials. We have also developed initiatives, such as "Women in Rare," to raise awareness of the impact these diseases have on women, both as patients and caregivers. By collaborating with organizations involved in hemophilia and growth disorders and by supporting the communication of innovative treatments for diseases such as Gaucher disease, we have learned a great deal.

It is estimated that there are between 6,000 and 8,000 known rare diseases. This number is constantly growing as research identifies new diseases and improves our understanding of existing ones. Despite the rarity of each disease, collectively, rare diseases affect a significant percentage of the population. In Europe, for example, it is estimated that around 30 million people are affected. Unfortunately, however, despite the large number of known rare diseases, there is no specific cure for most of them. Therefore, research, awareness, and information play a key role in developing new therapies and improving the quality of life of affected patients.

HCC, significant experience in the world of rare diseases

From 2020 to 2022, we designed and implemented the pulmonary arterial hypertension awareness campaign, "La vita in un respiro" (Life in a Breath), which was promoted by Janssen and supported by the patient association, AIPI (Italian Pulmonary Hypertension Association). The campaign featured Italian figure skating champion Carolina Kostner as the spokesperson. From 2023 to 2024, we developed and managed the "Women in Rare" project, which was promoted by Alexion in collaboration with Uniamo (the Italian Federation for Rare Diseases) and involved Fondazione Onda ETS, EngageMinds Hub, and ALTEMS. This initiative was created to raise awareness of the impact that rare diseases have on women's lives, whether they are patients or caregivers. We also have significant experience with hemophilia and growth disorders. In hemophilia, we have worked with Bayer, Novo Nordisk, Fedemo, and Fondazione Paracelso. In growth disorders, we have worked with Novo Nordisk and Afadoc (the Association of Families of Individuals with Growth Hormone Deficiency and Other Rare Diseases). Additionally, at the end of the last century, we supported Genzyme, now part of Sanofi, in communicating Ceredase, the first treatment developed for Gaucher disease.