Luz Saúde Collaborator Founds Rare Diseases Association
Conceição Piteira, Hospital da Misericórdia de Évora, unit run by Luz Saúde in partnership with the local Santa Casa da Misericórdia, integrates the group of parents who, in February this year, created DOCE, a non-profit national association to support children with Tay-Sachs disease and other gangliosides – very rare neurodegenerative diseases, that are fatal and still have no treatment or cure available.
Tay-Sachs is a progressive and rare neurologic genetic disorder, caused by lack of the enzyme hexosaminidase A, which is responsible for the elimination of ganglioside residues from the brain. The accumulation of gangliosides kills brain cells, progressively affecting the nervous system functioning, with fatal effects for the patient. These diseases are estimated to affect one in 320 thousand people, mostly children, registering some hundred cases in Europe and at least three dozen in Portugal.
It was based on the acknowledgement that we have to learn more and encourage laboratory investigation, that a group of parents of children diagnosed with the disease, among them Conceição Piteira, founded a new non-profit national association: DOCE – Divulge and Guide in order to Fight and Face Tay-Sachs and other gangliosides.
The goal is to “support and in-form all those affected by the disease, so that all may have access to information on studies and clinical trials at world level and so that all children may have access to medical support and material necessary for their welfare and quality of life”.
Leonor, the daughter of Conceição Piteira (both in the picture above), is almost 11 years old and was diagnosed about a year ago, after being submitted to genetic tests revealing ganglioside GM1 of type 2, an autosomal recessive disease. “The news was like a bomb. It’s like starting a new life with a new child.” The mother relates that her daughter attends a regular school, in Évora, with special education services. “She has a lot of difficulties, but we try to stimulate her, so that she does not lose her capacities. She does swimming, hippotherapy, speech therapy and physiotherapy. She is a happy child.” The life motto of the family guided the foundation of DOCE: “Give up is not an option”.