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Thread: My son has this combination: 3849+10kbC and 712-G->T

  1. #1
    Junior Member
    Join Date
    Jun 2017
    Posts
    5

    Unhappy My son has this combination: 3849+10kbC and 712-G->T

    Hello everybodoy!
    My name is Javier, I´m from Spain. Recently, my son has been diagnosed with atypical cystic fibrosis. He is 5 and he is SP.
    His mutations are:
    A) 3849+10kbC>T (C.3717+10KbC>T)
    B)712-G-> T (C.580-1G>t)

    Until now he has had no graves of affections, only coughs. He never hasn´t hospitalized. He was recently detected staphylococci aereus. In the sweat test he gave 52. The general condition is good and the FEV is 100.

    We are very precarious and desperate because nobody gives us much information of the forecast.
    Someone could help us? Do you know something about phenotype resulting? THANK YOU VERY MUCH

    Sorry for my english

  2. #2
    Administrator
    Join Date
    Dec 2007
    Posts
    2,212
    Javier,

    Welcome to the CF forums! I'm sorry about your son's diagnosis but glad you found this website and that your son is doing well and with perhaps a milder presentation of the disease.

    As you know, certain mutations impair CFTR function more than others, yet people with the same mutations will often have different severity and even different focus (gastrointestinal vs pulmonary) of CF symptoms. So there are many factors at play in forecast and outcomes.

    You may want to check out this website which is a database of mutations https://www.cftr2.org/

    Also, while this thread about CF genetics is long, especially in another language, you might end up reading it from beginning to end as it is pretty interesting http://forums.cysticfibrosis.com/sho...ighlight=ambry

    By the way, your English is great. Yo soy de los EE.UU., pero hablo español porque mi madre is de Buenos Aires. Sin embargo, de las palabras científicas y de medicina, no sé mucho. Espero que más gente responda a tus preguntas, especialmente padres y familia de niños con CF.
    40 year-old with non-CF bronchiectasis. Writer and editor, and mom of two tweens and a teen. Always grateful for the inspiration members of this site give me to exercise and more.

  3. #3
    Junior Member
    Join Date
    Jun 2017
    Posts
    1
    Hola!!

    Soy mexicana con 3849+10kbC>T y F508 Delta y tengo 20 años. Mi familia se mudó a los Estados Unidos porque en Mexico los doctores no sabían que tenía. Me han dicho que la mutación que hijo y yo tenemos es muy rara. Yo no tengo problemas con el pancreas, pero si he desarrollado sinusitis. Parece que tu hijo está saludable. Es muy importante que toda la gente que interactue con el se lave las manos para que no le den infecciones. Si se enferma con Pseudomonas aeruginosa, es bastante difícil de encontrar una medicina que no se vuelva resistente a la bacteria. Mientras no se enferme, traten de que el niño sea activo para que no se le acumule las flemas. Puede escupir? Una prima mia tiene una hija con fibrosis quistica de 5 años y apenas le dieron medicina por el nebulizador.

    Es bastante difícil de comprender y la verdad no es fácil vivir con la enfermedad. Claro, cada experiencia es diferente pero al fin del día abarca mucho tiempo y energía con los tratamientos y sentirse enfermo. Una cosa que hubiera querido cuando yo estaba chica es que la familia hable de la enfermedad y no le ponga un tabu incomodo. Lamentablemente la enfermedad existe, pero con medicina y el apoyo de los doctores y familia es mas facil navegarla.

    Si tienes otras preguntas en español o ingles puedes mandarme un mensaje por aqui!!

    Suerte,
    Daniela

  4. #4
    Hi, my daughter is 10 and has the same first mutation as your son. She is doping well, never was hospitalized. She is strong on sports and oferty much a normal kid going to publicznych school.we are from Poland.

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