World Day for Rare Diseases at Farol da Barra

Next Saturday 28, at 08 am, Farol da Barra will stage the World Rare Disease Day Walk. The action will be promoted by Bahia Association of Friends of Mucopolysaccharidosis (ABAMPS) which was created in 2007 to integrate patients with MPS and their families, thus ensuring full access to health and the fight for social inclusion. 

Next Saturday's campaign has as its motto “White dress and participate in this action in the fight for the rights of people with rare diseases” and will be attended by representatives of ABAMPS, patients, families and volunteers. Among the partner institutions are the Specialized Center in Rehabilitation (CER IV) of the Irmã Dulce Social Works, the Escola Bahiana de Medicina e Saúde Pública, the Association of Families, Friends and People with Serious Illnesses, Aliança Pesquisa Clínica Brasil, Maia Comunicação Integrada, Brasville Marcas e Patents and Gráfica Zás.

MPS (Mucopolysaccharidosis I (MPS I)

Mucopolysaccharidosis I is a disease of genetic origin that affects several systems and organs. It is caused by a defect in the gene that produces an enzyme called alpha-L-iduronidase. Due to this defect, cells produce the enzyme in low amounts or cannot produce it. This enzyme is needed to break down substances called "glycosaminoglycans" (GAGs) that are part of large molecules called proteoglycans and are part of tissues throughout the body. If the GAGs are not broken down, they accumulate in cells, eventually leading to damage to cells, tissues and organs.

Mucopolysaccharidoses can cause different types of syndromes such as Hunter Syndrome, where the patient has short stature, corneal opacity, hearing loss, retinal pigments, respiratory distress, heart disease, liver enlargement, constipation, enlarged spleen, movement difficulties, changes in the shape of the spine, joint limitation, gums and small teeth and mental retardation, macrocephaly, short stature, increased hair, visual loss, low voice, enlarged spleen, bone changes, joint limitation, whitish skin lesions, enlarged gums, small teeth, behavior disorder with agitation, difficulty concentrating, mental retardation and degeneration; Sanfilippo Syndrome whose symptoms are hyperactivity, difficulty in feeding, neurological degeneration, intense agitation and diarrhea; Morchius Syndrome causes patients with short stature, short neck, shortened bones, joint enlargement, hand and foot deformities, chin prominence, large mouth, mild corneal opacity, hearing loss, liver enlargement, valve involvement of the heart, small teeth and frequent caries; Maroteaux-Lamy syndrome with symptoms such as short stature, corneal opacity, enlarged tongue, chronic diarrhea, hearing loss, enlarged spleen, changes in the shape of the spine, joint limitation, heart disease, hair growth, small teeth , enlarged gums and depression of the root of the nose; and Sly Syndrome, which, in addition to short stature, causes visual loss, enlarged spleen, limited joints, small teeth, enlarged gums, difficulty breathing, hearing loss and mild mental retardation.