Children with the most serious forms of primary immunodeficiency (PID), a group of more than 400 rare genetic-based diseases, are known as bubble boys and girls, because they have to be highly protected from possible infections. Bufa la Bombolla (“Blow the bubble”) is a solidarity initiative of the Hospital Universitari Vall d'Hebron and the Barcelona PID Foundation that was born from the impulse of Martina's parents, and contributes to the dissemination and research of these diseases and to improve the quality of life of many children. In 2020, 10.000 euros have been raised with the sale of solidarity bubble bottles, which could be found in all Abacus stores for only 2.50 euros. The proceeds of the campaign go entirely to the investigation of immunodeficiencies by the VHIR Research Group on Infection in Immunosuppressed Pediatric Patients.
The initiative was born with Martina, an eight-year-old girl from Malgrat de Mar who was diagnosed with a primary immunodeficiency at four and underwent a bone marrow transplant. In addition, the campaign has encouraged people to help publicize primary immunodeficiencies by sharing videos and photos on social media making bubbles wherever they went with the hashtag #BufaLaBombolla and has generated additional donations to those of the sale of bubbles linked to the project that brings the total amount achieved up to € 20.000.
Primary immunodeficiencies are a group of diseases little known to the public and health professionals. A delay in its diagnosis significantly worsens the prognosis of affected people. In this sense, Vall d'Hebron has launched several initiatives to ensure an early diagnosis. It is the receiving center for patients diagnosed with severe combined immunodeficiency from a pioneering program in Europe in neonatal screening through the heel test, which affects between 1 and 4 babies each year in Catalonia. It has also created the PIDCAP application, which makes it possible to detect primary immunodeficiencies in primary care before the first clinical manifestations appear. All these initiatives are included in a project of global care for patients with primary immunodeficiencies and their families that make Vall d'Hebron a reference center for these diseases: XUEC (Xarxes d'Unitats d'Expertesa Clínica) in Catalunya, ERN- RITA (European Reference Network on Primary Immunodeficiencies and Autoinflammatory and Autoimmune Diseases) at a European level and a center recognized by the Jeffrey Modell Foundation at an international level among other recognitions.
The mission of the Barcelona PID Foundation is to promote awareness of primary immunodeficiencies by society, promote research and care for patients with these diseases and their families. The action programs range from psychosocial support to children and their families, to promoting the creation of a biobank with genetic samples that allow national and international studies to be carried out or to provide scholarships to resident doctors and physicians in training.