sexta-feira, 22 de abril de 2011

hoje - today

Artur a brincar com o pé - Artur playing with his foot
Hoje não tem sido um bom dia para o Artur. Está com febre, talvez porque tem 2 dentes a sair e que o têm estado a chatear imenso. Por causa da febre tem estado a fazer pequenas convulsões de duração inferior a 2 minutos. Enquanto não lhe passar a febre já sei que não passam as convulsões, pois é muito sensivel á temperatura. Vamos ver se passa bem a noite.

Today it has not been a good day for Artur. He has fever, maybe because there's 2 teeth coming out. Because of the fever he is having small seizures (less than 2 minutes each). While the fever last he will continue to have seizures cause he is really sensible to the temperatures. Lets see if he has a good night sleep.

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.

domingo, 17 de abril de 2011

Artur no Diário de Noticias - Artur in Diário de Noticias (a portuguese newspaper)

Hoje saiu um artigo no Diário de Notícias sobre o Artur, está na página 22. Podem ler um resumo na página do jornal online: Irei disponibilizar mais tarde aqui neste blog a digitalização da notícia assim que me for possível. Obrigado a todos os que acompanham este blog e o desenvolvimento do Artur.
Quero acrescentar que o Artur é seguido por uma excelente equipa médica e que isso é uma das coisas mais importantes. Muita gente se queixa da saúde em Portugal, eu nada tenho para me queixar desde médicos a enfermeiros passando pelos próprios auxiliares, todos têm sido excelentes. Quem segue este blog sabe que o Artur já foi internado várias vezes, e que é seguido em várias áreas médicas e só me queixei de uma única situação pontual no atendimento nas urgências.
Este blog está em português e inglês pois por causa das redes sociais, neste caso do facebook, pude encontrar pais e familiares de crianças com a mesma doença que o Artur. Foi criado um grupo em que trocamos experiências e tornámo-nos assim uma família.  Ao criar este blog senti que essas pessoas deveriam ter também acesso a este blog e compreender o que aqui ponho.

Today on a portuguese newspaper is an article about Artur. They have a small summary of the article on the web page: As soon as I can I'll put here a scan of the newspaper article and translate it for you. ;)
Thank you all for following this blog.
I have to say that Artur has a great medical team which is one of the best things. Many people complains about health in Portugal but I have nothing to complain about except one small thing in the last time he had to go to the emergency of the hospital. From doctors to all medical staff they all have been excellent.
This blog is in portuguese and english because I've meet a group of people in Facebook that have children or family members with 1p36 and we have become a family. When I started this blog I could not keep them apart from this so I publish also in english so they can also understand it.