Armando Gonçalves and Andreia Lopes, from Real, Braga municipality, healthy parents of Fabiana, a 12 year old girl with Tay Sachs (variant GM2-gangliosidosis), a neuro-degenerative disease that causes loss of motor skills, such as walking, speaking or swallowing. It is classified as a rare disease, with more than 15 known cases of children in this situation in Portugal.
Fabiana’s family (in a wheelchair). Photo: O MINHO / DR
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Fabiana was born perfectly normal. At the age of four and a half, he began to experience difficulty walking and to notice some stuttering in his speech. Over six years after the first symptoms, the parents consulted specialists, underwent tests and screening, until there was a final diagnosis.
“Her brain has stopped producing an enzyme that cleans cells. These cells accumulate, do not regenerate and end up dying ”, simplifies O MINHO, Fabiana’s mother. And so it was diagnosed with GM2, a rare disease, without authorized treatment therapies, limited to palliative care and adequate hydration and nutrition.
On the world day of the rare disease (February 29), Andreia, Armando, Fabiana and sister Ariana traveled from Braga to Coimbra to mark the first anniversary of the constitution of the SWEET, the first “national association to disseminate, guide, combat and confront Tay Sachs and other gangliosidoses”.
Andreia explains that there are 15 associated families in Portugal and, in addition to seeking comfort and information, all currently have a common goal for the association: Enable palliative care for children with rare diseases.
“We will try to negotiate with the State the integration of a palliative care network, because it does not exist in Portugal. If it is difficult for adults, it is even worse for children ”, says Andreia.
While this objective is not pursued, the association is dedicated to holding some meetings with parents “to talk to someone who is (or has been)” through the same situation in relation to their children. “It is a comfort where we can talk and get ideas,” he adds.
In the association is yet another family from Minho, more precisely from the municipality of Monção. Little Iris also suffers from the same category of illness. Samanta and Carlos, the parents, found in this association shoulders friends to help you better understand the course of the disease, says Andreia.
Carlos, Samanta and little Iris. Photo: O MINHO / DR
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“Here we can talk to someone who understands us, because no matter how much we talk to friends, family or doctors, it is difficult to understand what we are going through,” he says. “It is psychological support”, he adds.
Member of the association (Armando is part of the General Assembly), Andreia points out that “the first steps” are still being taken in this network, but some have been important for the quality of life of families.
“We have already organized palliative care courses and helped families to travel to Germany in search of training,” he explains, but they want more. “We are trying to ensure that, in the future, they can help us 100% in supporting children with rare diseases, but for now we do not have a large budget and this financial support is not yet possible”, he explains.
One year after the launch of first stone from the association, Andreia confides that “the state hasn’t changed much”, especially with regard to schools with the capacity to receive children in the multi-disability units.
DOCE’s first anniversary featured 15 families. Photo: O MINHO / DR
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Lack of space in schools
Attending such a unit at the EB 2/3 of Real, Fabiana does not always have the right conditions, especially due to the capacity of the space. “The room has ten children and shouldn’t have as many, the ideal would be five for each room”, he counters.
Created in 2016, through the participatory school budget, the Snoezelen Room is, according to the Braga Chamber “A fundamental pedagogical resource in the integral development of all children and young people, namely with multi-deficiency, mental deficiency, autism, attention deficit and hyperactivity, motor deficiency, visual and hearing deficiency, behavior problems, diverse syndromes and other problems”.
Andreia was “two years at home” to take care of Fabiana full time. Then he started working on part-time, five hours a day, in order to help with family costs, and Fabiana joined this school support unit.
“Schools are overcrowded and when they have a multi-disability unit, they are very popular, it is very difficult to find places, and when we find them, the rooms are full”, he argues.
In addition to the EB 2/3 de Real, there are units in Gualtar (specialized in Autism) and in the Escola Secundária Alberto Sampaio.
Rare disease carriers
According to data from the Directorate-General of the (DGS), since 2014, 7,177 people registered themselves as having a rare disease. However, in Portugal, there are about 650 thousand people suffering from this condition.
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