Hello I am new to this forum... hoping someone can help me.

[Shellee]

hello I am new to this forum/site. Am wondering if anyone could help me and give me some info on this. My son, 3yrs old, has already had several pneumonia's, 3 sinus surgeries, and greesy or gummy stools, he has also been diagnosed with severe asthma, and hyperimmunoglobin Syndrome. Today his genetic workup came back as : c.1408A>G; p.Met470Val (two copies) could someone please help me with info.

thanks so much for your help, I truly love this forum thus far.

I am not sure at all what this can mean or have to do with CF.

 

[Beccamom]

Hi welcome to the forum. To look up CF genetics look up CFTR2 at Hopkins. This has updated genetic information. I do know the M470v is a polymorphism and not thought to be disease causing in and of itself. Do you know the variants a combination of two between 5 T, 7T, and 9 T or two of the same? Do you know how many genes were tested for? Did your child have a sweat test at an approved CF center listed on the www.cff.org website? Best wishes.

hello I am new to this forum/site. Am wondering if anyone could help me and give me some info on this. My son, 3yrs old, has already had several pneumonia's, 3 sinus surgeries, and greesy or gummy stools, he has also been diagnosed with severe asthma, and hyperimmunoglobin Syndrome. Today his genetic workup came back as : c.1408A>G; p.Met470Val (two copies) could someone please help me with info.

thanks so much for your help, I truly love this forum thus far.

I am not sure at all what this can mean or have to do with CF.

 

[Shellee]

Hi Beccamom,
No I do not know of any of the variants, I had tried looking his genetic stuff up on Hopkins and didn't see it. Yes he had a sweat test that came back neg. but it wasn't at a cf clinic... thanks for all your help.