Delta 508 & C2657+2_2657+3INSA

Hi there Our gorgeous little e girl was diagnosed with CF at 3 weeks old. She is now 3 months old and doing great. We have just got the results back in relation to her gene mutation. One of then is d508 and the other is C2657+2_2657+3INSA which I have been advised is a very rare gene type. We are based in Ireland and our consultant knows very little about this particular gene combination. One thing that he has indicated is that our daughter is likely to to be pancreas sufficient and that she may have a milder form of cf. As you can appreciate we are trying to get out heads around this and believe that this is very good news. Is there anyone out there that has this combination? or can comment on this please. This is still very new for me and my husband and its difficult to get information on this gene and impact. I would be very grateful for any help/advice. Many thanks(VEST)
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Tags: DNA and Mutations Source Type: forums