Parc Taulí celebrated the 3rd World Day of Rare Diseases, this year focused on skeletal dysplasias of genetic origin. The welcome was given by the Medical Director of Parc Taulí, Dr. Jordi Gratacós, the coordinator of the Rare Diseases Unit, Dr. Víctor Martínez; the coordinator of the Dysplasia Unit, Dr. Juan Pablo Trujillo; and the president of the Association of Relatives and Affected People with Growth Pathologies (AFAPAC), Ester Vives.
The day was divided into two blocks, the first focused on the diagnostic process of the disease where Dr. Anna Moreno, from the Maternal-Fetal Medicine Unit at Parc Taulí, explained the importance of early detection during prenatal checks. As well as the importance of prenatal genetic study, presented by Dr. Neus Baena.
Next, Dr. Anna Cueto, pediatrician and principal investigator of the Genetic Medicine group at the Vall d'Hebron Research Institute, explained postnatal diagnosis and the classification of skeletal dysplasias. And Dr. Paulino Sousa, pediatric radiologist at the Hospital Sant Joan de Déu in Barcelona, carried out the radiological evaluation.
In this initial block, Dr. Juan Pablo Trujillo made the presentation of the Multidisciplinary Unit in Skeletal Dysplasias and Connective Tissue Disorders (UDETCo), which coordinates a transversal clinical team that consolidates a comprehensive and participatory care model based on innovation and focused on people.
The second part of the day focused on the treatment of dysplasias in adults, by Dr. Enrique Casado, head of section of the Taulí Rheumatology Service; on targeted therapies and future dysplasias, by Dr. Núria González, specialist in the Pediatric Endocrinology Unit of the Vall d'Hebron Hospital; and what is the orthopedic and surgical management offered to these patients, presented by Dr. Gemma Casellas from the Pediatric Orthopedic Surgery and Traumatology service of the Parc Taulí.
The president of AFAPAC, Ester Vives, explained the importance of giving visibility to these diseases and the advances that have occurred in recent years.
The day ended with a round table formed by professionals and patients and the conclusions of the different associations and foundations invited such as the Spanish Association of Families with Cleidocranial Dysplasia (AEFDCC) and the Association of Relatives and People with Growth Pathologies (AFAPAC). Overall, the relevance of multidisciplinary and networked work was emphasized in addition to the defense of public health to guarantee comprehensive clinical care with equity, quality and justice for all people affected by these minority diseases.
Skeletal dysplasias
These are congenital conditions that affect the growth, development and functionality of different bone structures due to genetic alterations. They can cause short height, malformations, among other symptoms.
Parc Taulí is a reference center in the treatment of this rare disease.
