Siblings – yes or no?

Question

Hello,

our daughter (CF patient, very good and stable course of illness so far) is now two years old and will start kindergarten in April. We had originally planned to have two or three children. After the diagnosis about two years ago, this was not really an issue for some time. In the meantime, however, we think it would be possible to risk having a further child…

Our daughter has the Delta F508 and G542X mutations.

What do you think about family enlargement? Getting a further opinion would certainly be helpful in making a decision.

Many thanks and kind regards.

PS If I look at our daughter’s development, I cannot understand that CF falls under the Pre-implantation diagnostics law…

Answer

Dear questioner,

first of all, I am happy to hear that your two-year-old daughter is doing well. This surely is due to the good doctors treating her, but your support in all therapeutic efforts in the daily life with a toddler is even more decisive.

Reading your question, I get the impression that you are already tentatively leaning towards an affirmative decision in favour of further children and are now looking for support and further arguments in order to become sure. An expert committee such as ECORN-CF is not the ideal place for this – you will learn more about the daily life of a larger family with at least one member with CF by contacting parents with two siblings, one or both of whom have this chronic disease. Perhaps you could initiate such a contact via a self-help group – in Germany, there are “many” families with several CF children (it is a rare disease, but you will find brothers and sisters in every larger CF clinic in Germany). Thus, there are plenty of parents who have already been in this situation and mastered it.

There always are many considerations factoring into family planning. Since you are mention your daughter’s mutation genotype (F508del/G542X, i.e. classic CF, good to detect regarding human genetics, and safe to diagnose) and the pre-implantation diagnostics law in your question, I assume that you are concerned with CF as a hereditary disease. Against this background, I have two questions for you:

1. A family with more than one child and CF – can I manage this?
CF is and will always be a chronic disease that will require your and your daughter’s attention all your lives. This is time-consuming. Can you reconcile that with the reality of your lives? Will the answer change depending on whether the sibling has CF or is healthy?

2. My child has CF – do I have to take a genetic test in case of pregnancy?
Generally, you have the so-called right to informational self-determination, i.e. both the right to find out something and the right to refuse that knowledge. You, however, already know which mutations you have passed on to your daughter. This opens up the possibility of carrying out a genetic test. It will be best to discuss the pros and cons of genetic testing in detail with a human genetics specialist. He/she will confirm that both mutations can be detected easily in your family from a human genetics point of view, which means you will be able to get a safe diagnosis before the child is born. If the child has inherited neither F508del nor G542X or only one of these two mutations, it will be healthy, like its parents. Before you decide for or against a further child, you should also consider which questions your children could ask you when they are grown-up. Times change: Our grandparents do not know that genes exist. Our parents know that one can examine genes. For our generation, genetic testing is omnipresent in the media. Our children’s generation will therefore think differently than us about topics such as “CF and genetic testing” or “CF and pre-implantation diagnostics” because they are growing up in a different environment.

Now, concerning the answer to your core question: As you can tell from the food for thought I have given you here, I wholeheartedly support family enlargement – and, of course, leave the difficult individual decisions to you. I hope that, through my counter questions, I was able to help you a bit on your way.

Dr. rer. nat. Frauke Stanke
Department of Pediatric Pneumology and Neonatology
OE6710
Hannover Medical School

12.01.2012