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

YEROTOS

New member
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 :(
 

Cecemtz1987

New member
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 :(

Hola Javier, me llamo Cecilia. Soy de Mexico, pero tengo 15 años viviendo en los Estados Unidos. I can tell you I know exactly what your going through. Soy mama de 5 niños muy maravilloso. Here in US when babies are born there blood is drawn and they are screened for tons of genetic disease of which is Cystic Fibrosis, shortly after my youngest child was born we recieved a call from the doctor saying Cristian's newborn screen had came back abnormal and he needed more testing. en ese momento Sentí que mi corazón se hundía, ¿Cómo es esto posible? He tenido 4 niños sanos, pense que por seguro huvo un Confusión. Sale que mi bebè es un carrier, he has one copy of the 3849+10kbC>T mutation, this was a relief but still a suprise because my husband nor myself had any knowledge that either of us were carries for CF. So my husband and my self get tested and I gave a normal genotype for CF, my husband however is the carrier, he to carries the 3849+10kbC>T mutation. His doctor quickly became quite concerned that maybe my husband has CF based on his medical history, asthma, allergies, bronchitis, nasal polyps, all mild manifestations but never the less where the conditions caused by CF. So he sent us to a CF clinic for a sweat test and a full CF screen. My husbands sweat test came back 15 with is low but a little above normal. His lung xrays came back with a subtle thickening og the wall but nothing serious and otherwise normal. His FEV 100. Were still waiting on the actual blood tests to come back, but tge geneticist we spoke with said that even is he has CF it is so mild that i would not require much treatment nothing more than what we already do allergy pills, nadal sprays ect... my husband is 36 years old and has never been hospitalized or had any serious infections. The geneticist explained that the mutation 3849+10kbC>T is one with residual function and pair with another CF mutation with residual function is often realted to very very mild CF and people can live long lives with minimal complactions. And that has been the case with my husband. He played soccer all his life hes active and healthy. We still dont know if he has a second mutation or not the doctors seem to believe they will find something, for now were just waiting. The geneticist also told us mutation 3849+10kbC>T is a mution that is not know for having Congenital absence of the vas deferens meaning that men with this mutation tend to remain fertile and can have children naturally. However everyone is different and mutation combinations are different. I believe your son will live a long life full of happiness and joy. Atypical CF has much better expectations. espero que esto ayude. Su hijo estaré en mis oraciones
 

YEROTOS

New member
Hola Javier, me llamo Cecilia. Soy de Mexico, pero tengo 15 años viviendo en los Estados Unidos. I can tell you I know exactly what your going through. Soy mama de 5 niños muy maravilloso. Here in US when babies are born there blood is drawn and they are screened for tons of genetic disease of which is Cystic Fibrosis, shortly after my youngest child was born we recieved a call from the doctor saying Cristian's newborn screen had came back abnormal and he needed more testing. en ese momento Sentí que mi corazón se hundía, ¿Cómo es esto posible? He tenido 4 niños sanos, pense que por seguro huvo un Confusión. Sale que mi bebè es un carrier, he has one copy of the 3849+10kbC>T mutation, this was a relief but still a suprise because my husband nor myself had any knowledge that either of us were carries for CF. So my husband and my self get tested and I gave a normal genotype for CF, my husband however is the carrier, he to carries the 3849+10kbC>T mutation. His doctor quickly became quite concerned that maybe my husband has CF based on his medical history, asthma, allergies, bronchitis, nasal polyps, all mild manifestations but never the less where the conditions caused by CF. So he sent us to a CF clinic for a sweat test and a full CF screen. My husbands sweat test came back 15 with is low but a little above normal. His lung xrays came back with a subtle thickening og the wall but nothing serious and otherwise normal. His FEV 100. Were still waiting on the actual blood tests to come back, but tge geneticist we spoke with said that even is he has CF it is so mild that i would not require much treatment nothing more than what we already do allergy pills, nadal sprays ect... my husband is 36 years old and has never been hospitalized or had any serious infections. The geneticist explained that the mutation 3849+10kbC>T is one with residual function and pair with another CF mutation with residual function is often realted to very very mild CF and people can live long lives with minimal complactions. And that has been the case with my husband. He played soccer all his life hes active and healthy. We still dont know if he has a second mutation or not the doctors seem to believe they will find something, for now were just waiting. The geneticist also told us mutation 3849+10kbC>T is a mution that is not know for having Congenital absence of the vas deferens meaning that men with this mutation tend to remain fertile and can have children naturally. However everyone is different and mutation combinations are different. I believe your son will live a long life full of happiness and joy. Atypical CF has much better expectations. espero que esto ayude. Su hijo estaré en mis oraciones

Gracias por su contestación. Entonces, su hijo también tien CF?
 
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