Cystic Fibrosis questions?

Question

After a scare with my nephew, my pediatrician and I discussed doing DNA testing through Ambry genetics. We did go through with it and my 5 year olds test have came back and he has G576A on exon 12 and R668C on exon 13. What does this mean? Does he have CF? Is there a such thing as mild CF? or could he just be a carrier? Thanks in advance.

Answer 1

there is mild cf and severe cf depending on which genes, but im not sure what those mean, i would contact the doctor again and write down all the questions you want to ask until you understand everything

Answer 2

I'm a little bit surprised that the genetic lab doesn't offer counseling.  Most quality labs are happy to offer consults.  Perhaps you could contact the lab directly to see if they have a genetic counseling department.  You are indeed correct when you say your pediatrician is not an expert in every area of medicine.  Genetics is complex, and with the advances in testing, it is virtually impossible for a doctor to keep up on everything.  Call the lab and see if they have someone who can help you.  

Answer 3

What the results reveal are CF mutations. CF has numerous DNA/gene markers; the most common is Delta 508. If you have two CF gene, yes you have CF. You are a carrier if you have only one CF gene. CF has mulit-organ effects on the body which can include sinus, lung and digestion and it varies without much explanation. Managing CF is important and calling any CF “mild” might mislead some people to not address seriously the management of it. So a person who has “mild” CF may be healthier because of consistent treatment or it can be sometimes just how the disease is in that person. Treatment can prevent  health decline in most cases.

While you are waiting you can talk to “real” CF people, families and friends at Cystic-L where there is the most current helpful information I have ever found.

http://cystic-l.org/

Cystic-L - Cystic Fibrosis Info & Support

Free email service for the exchange of information and support specific to cystic fibrosis.

Good luck to you.

Answer 4

You really need to call the doc back and ask those questions to him.  If you weren't given that information at your appointment, then the doctor owes you a detailed breakdown on what all that means.

YA isn't the place to be asking those kinds of really important specific questions.