By José Carlos Geraldo dos Santos, Associação Nacional de Osteogenese Imperfeita (ANOI), Brazil

My name is José Carlos Geraldo dos Santos I have two children with OI who are adults. I am part of the board of the National Association of Osteogenesis Imperfecta of Brazil (ANOI). When my children were born, there was almost no information about OI. There was a general lack of knowledge, even by the medical community in Brazil. And at the international level, the literature on the subject was very scarce.

At that time, we were fortunate to meet a geneticist/endocrinologist who advised us on the need to create an association to be able to seek treatment and improve the quality of life of people with OI. Rare diseases are invisible to society, changing this situation can only be done through the organization of affected people and their families.

Since then, we have tried to bring people with OI together, in Rio de Janeiro, at my house. Subsequently, with the advantage of the Internet, the group was expanded with significant participation of people and family members from other regions in Brazil. In this way, we were able to found, in 1999, the Brazilian Association of Osteogenesis Imperfecta – ABOI.

Our main actions were

• to carry out a statistical survey with people with OI at the national level to portray the reality of OI in the country
• the creation and approval by the Ministry of Health of a Clinical Protocol for the treatment of OI
• together with the creation of 10 reference centres for treatment of OI, in the ten main cities, funded by the Ministry of Health.

In 2007, due to administrative problems at ABOI, we had to found ANOI – National Association of Osteogenesis Imperfecta of Brazil, which continued the expansion of new referral centers in other cities. In addition, we participated in the revision of the treatment protocol, among other actions.

When we received the invitation from OIFE to participate in the “Bone Dysplasias 2024” Conference in Lisbon *, we realized that APOI was the main organizers.To get moThis motivated us a lot because of the opportunity to meet people and stakeholders contributing to making advances for OI.

We were extremely excited about the prospect of participating in an International Conference on Rare Diseases, which would also be attended by some representatives from other countries.
Beforehand, we were looking forward to an enriching and transformative experience, where we would be able to exchange knowledge and experiences with renowned professionals and individuals engaged in the cause of rare bone conditions. It was hopefully going to be an excellent opportunity to learn about the latest scientific discoveries and advances in the treatment of diseases, as well as to hear inspiring stories of success and resilience from families.

We were confident that this conference would be a space for collaboration, networking and solidarity, where we could join efforts to expand knowledge and awareness about the disease, thus seeking to improve the quality of life of people living with these conditions. We simply could not wait to connect with other attendees and contribute meaningfully to this important global cause.

This article has first been published in OIFE Magazine 2-2024.

*Editor’s note: Find more information about this conference