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

[YEROTOS]

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

 

[Ratatosk]

I don't have information on your son's mutations. As a parent, I too wanted to know how my son's mutations would present and what the future held. Even within the same mutation, there can be varying results. A lot depends upon when they're diagnosed, being proactive in terms of lung care, treating infections, nutrition, and if they develop any infections (influenza, pneumonia, bronchitis, RSV). Example: My son has one of the most common mutations and he was diagnosed as an infant due to a bowel obstruction. His issues have mainly been digestive and sinus. A friend of mine's daughter was diagnosed at 18 months because of multiple bouts of bronchiolitis. Another's daughter was diagnosed at 3 because her newborn brother was found to have CF during newborn screening. The daughter had never even had an ear infection. A friend of mine's husband was diagnosed at age 13 because of asthma and malnutrition. Every single one of these people has the same mutation, so it's hard to predict based on mutation.

I due recall years ago someone relocating to Spain from the states with their two children wcf and how proactive the CF Center was --- chest physiotherapy, preventative antibiotics, digestive enzymes.... IMO it's important to keep your son's lungs healthy and clear to prevent infections. Take it one step at a time. Remember your child is still a normal individual who just needs a few extra things to keep him happy and healthy.

 

[YEROTOS]

I don't have information on your son's mutations. As a parent, I too wanted to know how my son's mutations would present and what the future held. Even within the same mutation, there can be varying results. A lot depends upon when they're diagnosed, being proactive in terms of lung care, treating infections, nutrition, and if they develop any infections (influenza, pneumonia, bronchitis, RSV). Example: My son has one of the most common mutations and he was diagnosed as an infant due to a bowel obstruction. His issues have mainly been digestive and sinus. A friend of mine's daughter was diagnosed at 18 months because of multiple bouts of bronchiolitis. Another's daughter was diagnosed at 3 because her newborn brother was found to have CF during newborn screening. The daughter had never even had an ear infection. A friend of mine's husband was diagnosed at age 13 because of asthma and malnutrition. Every single one of these people has the same mutation, so it's hard to predict based on mutation.

I due recall years ago someone relocating to Spain from the states with their two children wcf and how proactive the CF Center was --- chest physiotherapy, preventative antibiotics, digestive enzymes.... IMO it's important to keep your son's lungs healthy and clear to prevent infections. Take it one step at a time. Remember your child is still a normal individual who just needs a few extra things to keep him happy and healthy.

Thanks for your words.