Francisco Rafael Monteiro Azevedo

Francisco’s Story

Francisco Rafael Monteiro Azevedo, Trisomy 13, 06/04/2004, Valence, France

Francisco Azvedo4 T13Francisco Azvedo3 T13

 

Francisco Azvedo2 T13

Francisco Azvedo 5 T13Francisco Azevedo T13

 

 

 

 

 

 

 

 

FranciscoUpdate:  Francisco Rafael completed eleven.  The last year was difficult for him did peneumonias the repetition, but now finally this well, we think that what caused all this was a new drug for the treatment of epilepsy.  Pediatric not want to admit but as were decreasing the dose, he was improving.  Finally just strip it completely, as it did many brocoaspiraçoes without us to give us account, give the peneumonias.  The product here in France is sold under the name kaneuron, and the principle asset is phenobarbital, sucks them are crap to look away, and sleep a lot.  Attention parents who have children to take this treatment make attention, sometimes we not related, but we were so add one plus one, had nothing changed except this medicine, as before he rarely did peneumonias, we made the link.

Francisco Rafael trisomy 13 is full, no Robertsonian translocation As described, the result is the karyotype: 47, XY, + 13

Original story:  Translated from Portuguese, which follows:  Good day, it is much easier to report the story of Francisco in Portuguese.  At age 24 I was pregnant, a pregnancy that we both wanted.  The doctor asked us to do the ultrasound, when we made the third quarter. It seemed that something was not right because I had a lack of amniotic fluid and  we urgently to hospital for monitoring and did a blood analysis, and I  was hospitalized 4 weeks, monitoring in the morning and evening, and post arterial tension had signs of pre eclanpsia.

At 37 weeks  Francisco was born by cesearean due to a lack of O2 and hypoglycemia  and spent the night in intensive care with 3 pediatricians around, until he stabilized, from Friday to Saturday. On Monday I was discharged and because of hypoglycemia Francisco was transferred to the hospital of Porto where we stayed a week.

At this time they made the karyotype and the verdict fell, trisomy 13, which the doctors told us was: we do not know how long your child will live; it can be one day, weeks, months, one year, several years since we do not know.  It is a very bad disease and about 80 per cent of children die in the first year of life. 

Francisco stabilized after a week and we returned to our hospital in VILA REAL, and at 21 days old Francisco went home.  He has always been accompanied by physiotherapy since birth and was operated on for an inguinal hernia and  was born with a criptoquirdia; and around 1.5 years  an intestinal occlusion was operated on at the Hospital in Porto and stayed there for 14 days.  In late 2007 we came to inhabit the south of France in the region (la Drome) in the town of Valence.; Since then he has been well and also has been in Portugal with ups and downs.  Winters are the toughest; they cause respiratory infections, since the immune system is fragile. 

Francisco goes to a center during the day, like a little school, does therapies, activities such as pony, and team Outings. He is happy go downtown and happy to return home at night.  The biggest problem is epilepsy, which we could not truly control, and it is difficult for him because he can crawl.   You can not walk through the house because of prior crises; he has already harmed the bridge of the nose and we were forced to make a closed portion among the sofas and of the portable tv and put a big furry carpet so that he does not get hurt. 

He loves to watch television, especially music, and riding  in the car.  Every year we make the trip to Portugal 14 hours of road, and he’s always in shape, when we recognize where we are, despite having left it for 3 years. 

I thank you for giving the opportunity to tell our story, because in English it would be more difficult because it’s just not practical since my studies.  We did not know that the community of younger children with trisomy 13 was so great, and we  do not know whether exists in Portugal circumstances like ours. 


Vilma Maria Dinis Monteiro Azevedo
pedro.monteiro2@free.fr

 

 bom dia ,é muito mais facil relatar a historia de francisco em portugues. aos 24 anos fiquei gravida  ,uma gravidez que ambos desejamos eu e meu marido ,fiz as ecografias que o medico nos pediu, quando fizemos a do 3 trimestre ,apercebemonos que qualquer coisa nao estava bem pois tinha falta de liquido amniotico, urgentemente fomos ao hospital fizemos um monotoring e analises de sangue, dai fiquei  hospitalizada 4 semanas ,monotoring ,de manha e a noite e tensao arterial pos tinha sinais de pre eclanpsia,as 37 semanas fizeram-me uma ceseriana,francisco nasceu com falta de O2 e hipoglicemia passou a noite nos cuidados intensivos com 3 pediatras a volta ,ate que estabilizou isto passouse de sexta para sabado  .Na segunda feira tive alta e por causa da hipoglicemia Francisco foi transferido para o hospital do Porto onde permanecemos uma semana ,nesse tempo fez o cariotipo e o veredito caiu,trissomia 13,o que os medicos nos disseram foi :nao sabemos quanto tempo o seu filho vai viver pode ser un dia ,semanas, meses ,um ano ,varios anos nao sabemos pois é uma doença muito ma que cerca de 80 por cento das crianças morrem no primeiro ano de vida.
Passada essa semana, como Francisco estabilizou regressamos ao nosso hospital em VILA REAL, e aos  21 dias de vida o Francisco foi para casa .teve fisioterapia desde que nasceu,sempre foi acompanhado, foi operado a uma hernia inguinal com que nasceu ,uma criptoquirdia;e  por volta dos1.5 anos fez  uma oclusao intestinal  foi operado no Hospital no Porto e esteve la 14 dias .Em finais de 2007 viemos habitar para o sul de França na regiao (la Drome) na vila de Valence; desde entao tem sido bem acompanhado como tambem o tinha sido em Portugal com altos e baixos os invernos sao mais dificeis faz infeccoes respiratorias ,dado que o sistema imunitario é fragil.
Francisco vai  para um centro durante o dia , como se fosse uma escolinha ,fazem as terapias ,actividades tais como o poney, teem saidas , esta feliz por ir para o centro e feliz por voltar a casa a noite.O que o prejudica mais é a epilepsia,que nao conseguimos controlar verdadeiramente,e é dificil para ele pois ele consegue gatinhar,nao pode andar pela casa toda pois por causa das crises , ja partiu a cana do nariz,fomos obrigados a fazer uma parte fechada no meio dos sofas e o movel da televisao e pusemos um grande tapete peludo para que ele nao se magoe.
Adora ver televisao ,principalmente musica,andar de carro.Todos os anos fazemos a viagem a portugal 14 horas de estrada,e ele sempre em forma, e quando chegamos  reconhece onde estamos ,apesar de ter saido de la com 3 anos de idade.
Agradeçolhe por ter dado a oportunidade de contar a nossa historia, pois em ingles seria mais dificil ,pois ja nao pratico desde  que acabei os meus estudos,nao sabia que a comunidade de crinças com trissomia 13 era tao grande ,desconheço se em portugal existe mais algum caso como o nosso.
cordialmente       Vilma Maria Dinis Monteiro Azevedo
—– Mail original —–
De: “Frank Barnes” <fbw4npn@gmail.com>
À: “pedro monteiro2” <pedro.monteiro2@free.fr>
Envoyé: Mardi 22 Juillet 2014 14:53:06
Objet: SOFT: A história de Francisco