quinta-feira, 21 de abril de 2011
Artigo do DN - newspaper article
Article translation (in progress):
in the "balls" are some of the features of the disease
1p36 deletion is the name of this health problem as complex as its symptoms. Motor delay, hearing and vision problems, mood explosions or epilepsy are just some of the consequences of this "orphan" disease, which is part of the list of nearly 700 registered in the country. When her son was six month old Raquel knew that he suffered from a genetic problem that has no cure. But that can be fought with treatment and monitoring
The rare disease with no cure that stops Artur's development
Artur is 2 years old, but he doesn't sit up or crawl, he just rolls over. His last major win was to be able to hold his head, what happens around 5 month old for other children. Artur has almost no speech. He says mommy, hi, no, and am when he is hungry. Artur is one of two children in Portugal with a rare disease: 1p36 deletion. The name is as complex as all that the disease causes. It is a genetic problem caused by the loss of genetic material on the short arm of chromosome 1, which affects the normal development of children. After confirming the diagnosis of the child, Raquel and her husband ran tests that showed no genetic abnormality, which proves the rule in other cases known to the world: they are the parents who transmit the disease to children. Although 1p36 is rare is still "the deletion [loss of a segment of chromosome] more often found" confirmed to the DN Juliette Dupont, medical genetics at the Hospital Santa Maria, Lisbon, who made the diagnosis when Artur was just six months. The frequency, he says, is one in every five thousand babies. But the president of the National Association of Mental Disability and Rare diseases (Raríssimas), Paula Brito e Costa, confirms there is only one more case in the country. In Portugal they are known at least 680 rare disorders, those that reach one person in two thousand. The diagnosis of 1p36 requires a genetic test. Raquel, 31, told DN that since he was born, the child showed symptoms that trouble the doctors. Was seen by clinicians from various specialties, until Juliette Dupont received the test result (it is only necessary to collect blood from the patient). The mother immediately sought information about the disease. She tried to react quickly and be prepared for everything. Even for the worst. Artur's disease is not degenerative, but has several problems associated with the organs. "The Artur is healthy in that aspect," she said, adding that expect a long life for her child. However, Arthur has epilepsy and hearing problems (waiting for hearing aids) and will conduct tests to confirm if the vision is also affected. He suffers the most common symptoms of disease: a motor delay. Because of these limitations, it is accompanied by a physical therapist and a physiatrist, but also the mother learned some exercises so that Arthur can practice at home. It also does swimming and, like most of the children with this deletion, Artur loves water. "It's something that is not explained scientifically. " For the 1p36 deletion there's no cure, as noted by Juliette Dupont only therapy to improve quality of life. Some children can get some independence, and there are even cases of adults who come to get to work. However, dependence on third parties is inevitable for all life. Raquel does not work, but
think in getting back to work next year and put Artur in a kindergarten. "Some children with this deletion
able to follow the teaching, "and this is what she thinks that can happen to the child, because Artur seems to understand everything. Just have difficulty expressing himself.
Without knowing anyone in Portugal with the same problem Raquel seeks support in the association
Unique. Paula Brito e Costa, from Raríssimas considers essential for families to share experiences with others
with the same experience.