I am 7 weeks pregnant and we just were informed today that my husband is a carrier for CF. I found out that I was a carrier last week.
I know all the basics about the genetics behind it and we know there is a 25% that our baby will have CF. We have already decided that we will have amnio or CVS to determine if the baby has CF.
No matter the result of this baby, we want to be informed since this will continue to be a concern if we decide to grow our family larger. We want to be prepared on just about everything. I am a medical student, so while I know the medical basics, they certainly haven't prepared us to be parents of a baby with CF.
I am wondering if this forum would be more geared towards those with CF who are pregnant or if there is another forum where I could read up. Any resources anyone can offer will be very much appreciated!
We go tomorrow for our first ultrasound and my OB is going to refer us to a genetic counselor. I live in a large city so I know there are lots of local CF resources and a fantastic childrens hospital nearby.
Thank you for any information!
Most of the posts in this section deal with CFers who are pregnant or trying to get pregnant. Some parents might see your post here, but you could re-post your question in the "Families" section.
Best wishes on your pregnancy and great job finding this site to get information.
Your basic understanding of genetics has paid off in spades. I recommend you continue reading this section of posts. As Printer noted, there are many older CFers. It is a great place to have a vicarious experience of CFers' lives. You would be surprised at how special and rich most of our lives' have been. We also ferret out and quickly analyze anything on the horizon. I am constantly amazed how synergistically and viral this forum works.
So, you're going to see a genetic counselor. I wish you could fly that on a flag. I don't understand the widespread disconnect with doctors presuming to be qualified to play 'GENETIC COUNSELOR'. A brand new doctor is out of date with concern to genetics, not all, but I have seen almost daily on this forum, a first timer with just enough information to be dangerous. We know, collectively evrything about CF. The genetic counselor will start where your knowledge ends. You may be totally up on CF and the CFTR gene mutation. Rather than spewing stuff you may well know, if you want a leg up; Wikipedia Cystic Fibrosis and CFTR gene mutation. You don't need to understand codons and exons, but you might want to what they are. Heterozygous and homozygous you know and that will start the conversation higher, avoiding learning the language.
Two thoughts, I hope and chances are good that of the 1600+ CFTR mutations you shoot and miss sharing the same mutations. This is the most hopeful time in CF medicine. CF was one of the first genetic diseases located and decoded. Already a few CFers are benefitting from a genetic replacement drug. This will become a watershed.
After our son was born and they found out that he had CF in his newborn screening we were told that if we had any more children there is a 50% chance of the child having it and obviously a. 50% chance that the child would just be a carrier. We were shocked when we found that our son had it. Neither my husband or myself knew we were carriers. After we found out we got down to business and started doing all the treatments and medicines and our son is now a very onery 6 year old boy. By looking at him you would never knew that he had CF. We are actually trying to have another one and the way we look at it if the child has CF we are more prepared and will know what needs to be done.
Jsjohnson77: If it was your doctor who told you that your next child has a 50% chance of being born with CF, read the first post and my last post. It would be good even now to see a genetic counselor. To wade a little where I shouldn't, the classic genetic trait CF represents is Mendelian or ideal genetics. Example: both parents carry the CF gene with both male and female having one healthy gene and one defective gene in their body cells. Both parents produce eggs and sperm loaded half with the normal gene and half loaded with the defective CF gene. The CF gene mutation is recessive which means only a person with two CF genes will have CF. No other combination will cause CF. The monthly egg the mother releases for fertilization is split equally. On any month 50% cf and 50% normal are the odds. Sperm work the same way. Take two coins, one representing each parent. The coins appear normal because one side is normal the other side with the single recessive side. Join egg and sperm, flip both coins. The first observation, each time, the odds are the same. Each time a coin is flipped odds are 50-50. If we could slice each coin and lay it out, mom could contribute 1CF and one normal. Dad looks the same. There are four possible combinations with each pregnancy. Three cannot have CF, one can. The odds each time are 25% or one in four. Exactly the odds your first child had.
If this was so simple, genetic counseling would be a waste. One thing you do know, and that is you both carry at least one CF mutation in common. Read through a lot of past posts on this forum and you will discover each person has different presentations of the disease. This is where a genetic counsellor comes in. CF initially seemed classic, genetically. Nothing could be further from reality.
We were in your exact shoes just 11 months ago. Our child did end up having CF and she is now 4 months old and doing great!!!! Here is a video that the Dallas CF chapter put together about our story. Please feel free to reach out to me if you want to talk or pick my brain. I know when I was going through it I just wanted to talk to someone that went through what we were going through. Unfotunately I was not able to find such a person that knew early on in their pregnancy. Fotunately though, I did find a great support system within the CF Family.
If you want to reach out to me you can email me at firstname.lastname@example.org