Questions about Cystic Fibrosis (CF)?

Question

My sons, 5 and 3, had a sweat test and they scored high borderline. They then had the Ambry CFTR amplified testing administered and my five year olds results have came in , but we are still waiting on my 3 year olds results. My 5 year old has the G576A on the exon 12 and R668C on exon 13. My pediatrician is great, but she is not an expert in this field and is referring us to a pulmonary Dr to find out what's going on. While I'm waiting on going to the Dr, I would like to ask if anyone may know if this is CF? Could he be just a carrier? Is it mild? or is it just plain CF? any help would be great. Thanks, this has been an awfully long month of worry and wait.

Answer 1

I don't know about those specific mutations, my daughter has CF but with different mutations.  You could go to www.cff.org, which is the cystic fibrosis foundation website where you can find more information as well as a CF center around you which would be able to answer more questions.  

If a person has 2 mutations related to CF then they have CF, 1 mutation is a carrier.  You can't tell by the mutations alone what the severity degree will be for certain because each child is so different, even when they have the same mutations.  My daughter has 2 delta F508 mutations, which is the most common and one of the most severe.  But she has been very healthy with almost no problems relating to CF at all.  

There is a wonderful CF group for parents of small children: http://health.groups.yahoo.com/group/CF_...

you can go there and post this question and I bet you will get lots more answers from people who may even have children with those mutations.  

I am sorry you have had to wait so long and worry so much!  Hopefully soon you will get this all figured out!

Answer 2

exon 12 and 13 are studied extensively in regards to G576A and R668C respectively. Do a Yahoo search using (R668C G576A CF exon 12 13) and you will see hordes of information. You may find this link informative, http://hmg.oxfordjournals.org/cgi/conten...  

Our son has CF and is 23 now and doing well all things considered. He has a different mutation which is very rare, so he is probably not a good model to make assumptions for your children. However, even if two patients have the same mutation it doesn't mean they will be affected the same. There are just too many variables that make every patient unique. Our son is doing pretty good and he has a lot to deal with. If they do have a less severe mutation, they should respond much better to treatments and have a much better prognosis. If you feel so inclined, you may visit our family web site and we have contact information there should you decide to talk to other CF parents.

Best Regards

Edric Zaruba

http://web.mac.com/edriczaruba1