¡¡¡Saludos a todos los que nos siguen a pesar de los largos espacios sin escribir!!!
Dafne está en la adolescencia total!!! Pero he estado disfrutando de sus grandes logros y verla crecer, tomar decisiones, estar en desacuerdo, expresar su sentir y su deseo. Estoy agradecida con Dios y con la vida por todas las canas que está sacando de mi cabeza :P!!! jajaja Nada mejor que tener la bendición de ver crecer a tus hijos y disfrutar cada etapa.
Quiero aprovechar también para agradecer a la familia, doctores, maestros , amigos que han estado siempre a un lado de nosotras, acompañándonos en este camino... sin ustedes definitivamente no pudiera expresarme de la forma que lo estoy haciendo ahora. Bendiciones para todos!!!
11 comentarios:
CUANTO HA CRECIDO MI SOLCITO!!! ESTAS CADA DIA MAS LINDAAA!!!!!! BESOS DESDE ARGENTINA LAS AMO!!!
HOla, mi nombre es Josefina. A mi hija Sofía (20 meses) le diagnosticaron el sindrome, ya que tiene algunas caracteristicas del mismo. Me gustaría saber como confirmaron ustedes que realmente sus hijos tenian el sindrome de Johanson Blizzard? QUé estudio genético le hicieron? en donde??
Muchas gracias!
sds
Josefina de Argentina
Hola Josefina,
Felicidades por tu pequeña!!! Pues mira las características del síndrome son muy notorias, éstas son: ausencia de alas de la nariz o alas de la nariz parcialmente ausentes, defecto en el cuero cabelludo o defecto de la línea media, normalmente a nivel de la fontanela; como si tuviera cicatrices que hacen que tenga remolinos en su cabecita, ano imperforado, hipotiroidismo, deficiencia pancreática. Estas son las generalidades. Si tu hija se parece a los niños que has visto en el blog, seguramente presenta JBS, pero debes confirmarlo con un cariotipo. Algunos pequeños presentan sólo un porcentaje del síndrome y para confirmarlo se debe hacer el examen anterior. Y éste examen lo debe hacer un Médico Genetista pero el pediatra de tu preciosa lo debe indicar.
Aquí te dejo mi correo electrónico, creo que puedo contactarte con Nancy, que escribe arriba de tu comentario y que tiene 2 nietos con éste síndrome.
Un abrazo en la distancia. No estás sola, cuenta con nuestro apoyo.
Cynthia.
meccyr@yahoo.com
Muchas gracias Cynthia! Te escribi a tu direccion de correo para mas detalle, despues les cuento en que quedo.
Saludos!
Josefina
Hola Cynthia,
Me da mucho gusto saber que esten bien. Elio empieza el pre-escolar en Agosto. Se que se le va hacer dificil pero tiene mucho apayo de su mami. Mil gracias por toda tu ayuda. Cuidensen.
Maricruz.
Todo un ejemplo de vida, que bien que Dios te permita tener a tu hija por mucho tiempo mas de vida, soy el administrador del blog http://enfermedades-rara-sk.blogspot.com si necesitas que publique algo sobre tu blog o algún enlace házmelo saber a mi correo, iskoer@gmail.com un saludo desde México
First of all: sorry for writing in English, but my Spanish is to bad to build complete sentences ;-)
My name is Maja, I think some of you already know me. I am a geneticist from Germany and I had the pleasure to get to know some of your stories and also do some genetical analysis. Recently two new artikles about JBS were published and I'd like to tell you the links so you can find them online.
One article is about the similarity of the effects caused by UBR1 deficiency in humans and yeast, this is very biochemical and even for me a bit hard to understand ;-)
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0024925
The second one is a case report about a boy from the Yemen.
http://www.wjgnet.com/1007-9327/full/v17/i37/4247.htm
Both articles are free of charge and I would be happy if any of you is interested in them.
I am just working on a third article including many new UBR1 mutations that cause the JBS, as soon as this is finished (this might take a while) I will share the link with you.
Thanks for all the families that took part in this study so far, I think we have collected a lot of data of JBS now and we will continue with these investigations to find out more about this rare disease.
If anybody has a medical/genetical question don't hesitate to ask me:
Maja.Sukalo@med.ovgu.de
A nice and cosy Christmas time to all the followers of this blog,
Greetings from Germany,
Maja
hola!!! soy Marina y tengo un bebe de 20 meses con JBS, y la verdad que es una alegria tenerlo.. saludos desde Argentina (Misiones)
Hola Cinthia que guapa està Daphne!
Lucas ya tiene 17años y esta echo un hombre. Esta bien con las cosas propias de esta edad pero evoluciona favorablemete.
Este ultimo año ha sido muy duro para nosotros pues su padre es diabetico y tuvo un infarto muy fuerte y a raiz de ello le han tenido que amputar las 2 piernas y ahora tambièn va en silla de ruedas como Lucas.
El dia a dia es muy duro, pero vamos superandolo y nos hacemos mas fuertes.
Me gustaria tener contacto contigo mi email es m.autonell@novaha.cat
un abrazo
hi my name is Rhonda, Wesley lacked from Jan. 14th 2014 to March 6, 2014 being 29 when the lord took him home to be with our lord and savior, If I was not positive knowing he was with jesus in heaven, I could not endure loosing my boy. Wesley was deaf, he went to Olathe School for the deaf from the time he was 9. Our first child was our little girl, the dr.s did not know why we lost her at 18 hrs. old. Rachael Beth had bangs past her eyebrows,she only had one flair on her nose, and she was not perforated. They had to do surgery and her little lung collapsed, they did not know her heart was not formed right.she was simply beautiful. We went to genetic counselors and they said to have as many kids as we wanted, they simply did not know what had gone wrong in my pregnacy, Rachael Beth was born Sept 30, 1976. March 25th, 1978, we had a beautiful healthy son,His name is Joshua Earl, today he is 37. Almost 7 years later we had Wesley J.R. Dean Adams. Wesley fought hard for his life, the hospitals we never left the hospital first round almost 6 months, but I felt blessed, there was many parents loosing their newborns for different reasons. We was in neonatal and once ur living in that world u never forget the smell of cleaners, medicines ect. ect. Wes was a blast, hardheaded spoiled, crazy about his dad, tiny but mighty. He started school at 3. He potty trained himself the same day he first walked, those big brown eyes just watching and waiting. hospital stays all the way thru our lives. I never left him when he was in the hospital, his dad was always there too. Our hearts grateful every battle that was won. Wesley taught elementary classes sign language during his years as an adult. He was livinng at a place called Twin Rivers, the hospital sent him home 4 x's to early, he'd be back in the hospital, well one night they gave him morophine when he got home from the hospital, and they killed my baby, they overdosed him, a lady named Betty gave them permission to overdose him. If I'd kept him with me we would not of lost him, but Jesus took him home, it's the only way I can deal with his death is to let the Lord have him.
When I leave this earth, I'll be going home to be with my babies, God just needs me here for Joshua, Just because u r born normal doesn't mean u don't need ur mama, and he needs me now more than ever. I thank the Lord I have Joshua. sincerely, a mama to two babies with johanson-blizzard. Rhonda ps. The drs. said Earl and I was related 16 generations ago and have the same grandfather 16 generations ago and have the same grandfather. My dads moms maiden name was adams, and on my moms side and his moms side their were bakers in their ancesters.
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