genetic counseling

[Nikole]

This is a question for Lou Lou: Hello, my name is Nikole and I am a mom of soon-to-be four kids. We have a 5 year old daughter with CF (delta F508 and 711+1G>T), a 3 year old daughter with negative sweat test and negative newborn screening, a 1 year old daughter with negative sweat test but Df508 carrier, and we are unexpectedly pregnant with a boy. None of us have ever had genetic counseling and I noticed that you said you have a child that passes sweat tests but has a rare 2nd mutation. I was wondering how important it is that we seek genetic counseling? My 3rd little girl, like I said, is a carrier with negative sweat test, but in the back of my mind, I always worry what if she has a rare mutation that we don't know about. If she were to have CF wouldn't she have both mutations that my daughter has or is there a chance of having a different 2nd mutation? I just always second guess if we should have seeked genetic counseling three years ago when we found out our 5 year old has it. Thanks to you and to anyone else who may have advice.
Nikole

 

[kross10911]

From my experience of genetic counseling ( my ex husband was a carrier and we had him tested since I have cf) that all of your children would have the same mutations. In order for a third or unknown to come into play I would think that one of the parents would have to have CF themselves.. I could be wrong though. Im not one of those people that have a lot of in depth info on it. Hopefully there will be others that have an input for you.

 

[LouLou]

Hi Nikole, Sorry for the delay. How was your daughter's mutations found? Does she have a positive sweat test? You could test for the specific mutations she has in the other two children. For the other two children to have a totally different mutation than the two that she carries they would need to have gotten it from one of their parents. Assuming all the kids have the same two parents this would mean that one of the parents has two mutations. Do either of you have symptoms? You could get the other kids tested for the mutatins that the cf child has. Or you could get both you and your spouse genetically sequenced. If any other mutations are found in the parents other than the two that you already know you are passing on then 1) either you or your husband has cf and 2) you'll want to add this mutation to the list of mutations that you look for in all of the children. Hope this helps!