8 months old and no answers

[lulubugsmama]

Hi. I am new here and I guess I am just looking for advice and support. My daughter is 8 months old and her newborn screening for CF came back questionable. At 2 months old she had her first sweat test, it came back slightly elevated but not a positive. At 6 months she had her second sweat test, it was more elevated but still not positive. I was tested and found out I have a mutated DeltaF508 gene. My husband has not been tested yet (per doctors suggestion). Her pulmonologist suggested we have her bloodwork done and go from there. Friday we finally got the results. She has the mutated DeltaF508 and another abnormal gene (not producing enough protein). The Dr. said she has a Cystic Fibrosis Related Disorder. She will need to have another sweat test when she is a year old, but that was all the answers I got. I am clueless as to what this all means. I know I need to call and ask questions but I don't even know where to begin.
We are currently waiting for the genetics department to call about testing for my husband. The more research I do, the more confused I get! I just happened to come across this site and thought it might be a great place to start.

 

[Julie7]

Do you know what the other mutated gene is? Are you going to an accredited CF center? You have to be your child's advocate. Stay strong and know that there are many people with CF who lead normal lives. This is a great forum for support. You did not mention if your child has symptoms?

 

[Beccamom]

I would ask for a written copy of the genetics report. Then you can look at cftr2 which is a database organized by John Hopkins and has great understandable information. Also if your husband gets tested you can learn if your child's mutation and abnormal gene are really two different genes. Is the abnormal gene a 5t variant?

You came to a great place for information.

Hi. I am new here and I guess I am just looking for advice and support. My daughter is 8 months old and her newborn screening for CF came back questionable. At 2 months old she had her first sweat test, it came back slightly elevated but not a positive. At 6 months she had her second sweat test, it was more elevated but still not positive. I was tested and found out I have a mutated DeltaF508 gene. My husband has not been tested yet (per doctors suggestion). Her pulmonologist suggested we have her bloodwork done and go from there. Friday we finally got the results. She has the mutated DeltaF508 and another abnormal gene (not producing enough protein). The Dr. said she has a Cystic Fibrosis Related Disorder. She will need to have another sweat test when she is a year old, but that was all the answers I got. I am clueless as to what this all means. I know I need to call and ask questions but I don't even know where to begin.
We are currently waiting for the genetics department to call about testing for my husband. The more research I do, the more confused I get! I just happened to come across this site and thought it might be a great place to start.

 

[lulubugsmama]

Do you know what the other mutated gene is? Are you going to an accredited CF center? You have to be your child's advocate. Stay strong and know that there are many people with CF who lead normal lives. This is a great forum for support. You did not mention if your child has symptoms?

I don't know what the other mutated gene is. The Dr. may have mentioned it, but I was upset when he was talking to me on the phone. I don't know that she has any symptoms, she has breathing problems but it was diagnosed at Laryngomalacia. I am concerned that maybe that could have been misdiagnosed?? Yes, we are going to an accredited CF Hospital, but considering getting a second opinion. I want to call the Dr. and ask questions, I guess I just don't know where to start.

 

[lulubugsmama]

I would ask for a written copy of the genetics report. Then you can look at cftr2 which is a database organized by John Hopkins and has great understandable information. Also if your husband gets tested you can learn if your child's mutation and abnormal gene are really two different genes. Is the abnormal gene a 5t variant?

You came to a great place for information.

I never thought of asking for a written copy, I think that's a great idea, thanks! I hope he gets tested soon, we are waiting to hear from the Genetics department at the hospital. I suppose I could call myself, maybe get things moving. I am unsure what a "5t variant" is, so I can't answer that.