Regina, you must forgive the last poster. We are not all like that on this site.
So, to answer your questions... Your roommates child only has a chance of having cf IF the father is also a carrier. The probabilities of her having a baby with CF if the father is a carrier as well (I would recommend having him tested if this is a possibility), they will have a 25% chance of an unaffected child (no CF, no carrier status), 50% unaffected carrier (carrier only like your roommate, NO CF) and a 25% chance of having CF. IF the babies father is NOT a carrier, the baby will have a 50% chance being unaffected (no carrier status, no CF) and a 50% chance being an unaffected carrier (carrier like your roommate, no CF). In order for a child to have CF, they have to inherit the gene from their parents-both parents, otherwise, if they just inherit 1 gene (from 1 parent) they are carriers.
There are currently over 1300 KNOWN CF mutations and new ones being discovered everyday. The most common ones (do you know what mutation she is a carrier of?) have been known since the mid 80's when they were able to complete the entire CF genome. There isn't much information on some of the more rare mutations, and from information that is avilable thusfar (and there are currently studies going on) those "rarer" mutations seem to be less of a problem causer for those that carry those "rare" mutations. Basically, it could go undetected- no real signs or sypmtoms except for the test. Along with the CF gene there is thought that there are "modifiers", but that is currently being researched. The thought behind that is it has been noticed over the years that people of the same gender and age, who carry the exact same mutations, are sometimes affected VERY differently. That's why nobody can predict how CF is going to be for a person.
As far as what it affects, as mentioned above, it affectes everybody different so here's just an overview. The first thing is that it causes problems with the lungs, eventually leading to lung transplants in some patients, and sometimes not. Just a personal scenario, my husband is 24 and has lung involvement from his CF but is nowhere near needing a transplant. It is really individual though. Most CFers do daily chest physical therapy to clear mucus from their chests, and do inhaled antibiotics to prevent or fight lung infections. This just becomes a daily part of most of their lives.
Also there is digestive issues, failure to thrive (usually caught in babies when they fail to gain weight, aren't eating, are really short and skinny for their size), inability to gain weight in spite of the fact that that the person is eating and eating and eating. It has to do with the fact that people with CF (some and not all) have pancreatic insufficency. Everybody's body creates enzymes that help break down food for proper digestion. In a person with CF, they lack those enzymes so their body doesn't break down the food and properly digest it. CFers who have pancreatic insufficency take enzyme pills with every meal and snack to break down what the body doesn't naturally. But even with that, there is still a struggle to gain weight sometimes.
There is also some reproductive involvement in both men and women with CF. In women, it has been shown that it is more a problem with the thick mucus production (all over the body) especially in the vaginal canal which makes it difficult for the sperm to travel up for fertilization. That can usually be solved with over the counter robiutssin (not the cough supressant type but the one that thins secretions) or sometimes infertility drugs. As far as the male involvement, approx. 99.5% of men are born without a vas defrerns. The vas deferens is the tube that carries the sperm from the testicles (where sperm is produced, even in men with CF) to ejaculation. Since men with CF lack this tube (they use to think it was blocked with mucus like women but research and surgery has shown this is not the cause) there are ways to have sperm extracted from their testicles and the tubes inside the testicles (called epididymis). So, it is possible for a man with CF to biologically father a child via a MESA sperm extraction and an in-vetro (with ICSI) procedure for the woman. Personal note, my husband is going through the MESA procedure in 2 weeks and we are doing In-vetro with ICSI in October so fatherhood is a possibity. I am also in touch with one family (man has CF) who have twins, and there is one on this site who's wife is due in July-I believe.
And as far as the fatality issue, yes CF is fatal-but not like it use to be. Now there are so many treatments and medications for lung problems and so many supplements for digestive issues that people are living a lot longer-and are healthier. The median age for CF is about 32 years of age, and it climbs ever year. But you must keep in mind that that median includes a compilation of those who live very long and those who don't live long at all (which isn't all that common anymore). I know quite a few people with CF (aside from the friends and aquaintances I have made on this site) who are in their upper 30's, some in their 40's and I think there's even a few on this site that are that old or older. So yes, although this disease is eventually fatal, most people with CF live long and fulfilling lives.
Again though, it might help relieve some fears if you can get the father tested, no sense in worrying yourself!
If you have any more questions, please feel free to write to me at division902@hotmail.com
Julie (wife to Mark 24 w/CF)
