Guest guest Posted March 1, 2004 Report Share Posted March 1, 2004 I have an unborn daughter coming in the Summer who has the mutation. F405delta and 1717G1->A I have done some research and concluded that both of these mutations are associated with the severe disease(as far as the insufficient pancrease is concerned). Does anyone else have this mutation set? Is the pancreatic defficiency the cause of all of the GI issues like irritable bowels, diahrea, stomache pain? My wife and I have used your kind words of inspiration and bravery to prepare ourselves for the future. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 1, 2004 Report Share Posted March 1, 2004 Dear Parents to be, Remember that it has to do with the penetration of the gene, a lot more than the mutation itself. I know of three people that are double delta f508, not a good thing by charanteristics, and doing very well. One of them is 35, married and has never had IV antibiotic or interned. Keep the faith, mom of a 10 pwcf, Venanzio 7 nocf, Pepe 4 nocf > I have an unborn daughter coming in the Summer who has the mutation. > F405delta and 1717G1->A > > I have done some research and concluded that both of these mutations > are associated with the severe disease(as far as the insufficient > pancrease is concerned). Does anyone else have this mutation set? Is > the pancreatic defficiency the cause of all of the GI issues like > irritable bowels, diahrea, stomache pain? > > My wife and I have used your kind words of inspiration and bravery to > prepare ourselves for the future. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 1, 2004 Report Share Posted March 1, 2004 I don't know anything about the two mutations your daughter has, but our doctors have told us time and time again that people with the same mutation won't necessarily have the same symptoms or problems. My reason for replying to your message is to say that my husband and I were in your position last summer. We had just found out that our unborn daughter had CF. We shared many tears the first month or so after we found out. Looking back, we're glad we found out before she was born. It gave us a lot of time to do research and talk to people to see what we could expect. But we shared many more tears when she was born. It was our reality now, and it hit us harder than we expected, but knowing before she was born was definitely a blessing. Our daughter, Kaley, is 3 1/2 months old right now. She is pancreatic deficient and is taking Ultrase enzymes before each feeding. She only gets breastmilk, and is growing extremely well. Her weight puts her in the 75th - 90th percentile for girls her age. I hope your daughter does as well as Kaley is doing. The good thing for you guys is she will be born in the summer, outside of the " flu and cold " season. Good luck with the remainder of the pregnancy and the birth, I hope everything goes well for you both. Jenn, mom to Dominick, almost 2 nocf and Kaley, 3.5 mos wcf > I have an unborn daughter coming in the Summer who has the mutation. > F405delta and 1717G1->A > > I have done some research and concluded that both of these mutations > are associated with the severe disease(as far as the insufficient > pancrease is concerned). Does anyone else have this mutation set? Is > the pancreatic defficiency the cause of all of the GI issues like > irritable bowels, diahrea, stomache pain? > > My wife and I have used your kind words of inspiration and bravery to > prepare ourselves for the future. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 1, 2004 Report Share Posted March 1, 2004 Both these stories sound so familiar! I just want to say, I agree with Jenn, finding out early was such a blessing. It gives you time to prepare. My daughter is 15mo and is doing very well. She has had one very minor cold which never went to her lungs. She is also pancreatic insufficient and takes enzymes which we started as soon as she was able to latch on. She is also in the 75% for weight and 90% for height. To give you an example of how little the genetic mutations tell you... I have 2 cousins (brother & sister) who have the same mutations as my daughter. One of them is doing extremely well; he is 23 and applying to medical school. The other had a lung transplant at 13 and at 21 passed away. Another ironic thing is that my cousin who is still living was not diagnosed until he was almost 2 because of malnutrition and failure to thrive. The one that just passed away was diagnosed at 6 weeks. Everyone goes through it differently! I don't really understand this but at a conference we just went too the Dr. said that the determining factors seem to be more related to the " modifier genes " than the actual mutated genes. Once your daughter arrives, my advice is to breastfeed, it is the best defense you can give your child! Also, talk to your Dr about getting the RSV vaccine for the cold and flu season. Wash hands and stay away from people who are sick and germy public places (supermarket, mall etc...) at least in the beginning I'm convinced these are things that are helping my daughter stay healthy. Take care and keep us posted on how you all are doing. Mom to Ellie 15mo wCF and Jack 3 1/2yrs noCF Re: Genetic Mutation Type I don't know anything about the two mutations your daughter has, but our doctors have told us time and time again that people with the same mutation won't necessarily have the same symptoms or problems. My reason for replying to your message is to say that my husband and I were in your position last summer. We had just found out that our unborn daughter had CF. We shared many tears the first month or so after we found out. Looking back, we're glad we found out before she was born. It gave us a lot of time to do research and talk to people to see what we could expect. But we shared many more tears when she was born. It was our reality now, and it hit us harder than we expected, but knowing before she was born was definitely a blessing. Our daughter, Kaley, is 3 1/2 months old right now. She is pancreatic deficient and is taking Ultrase enzymes before each feeding. She only gets breastmilk, and is growing extremely well. Her weight puts her in the 75th - 90th percentile for girls her age. I hope your daughter does as well as Kaley is doing. The good thing for you guys is she will be born in the summer, outside of the " flu and cold " season. Good luck with the remainder of the pregnancy and the birth, I hope everything goes well for you both. Jenn, mom to Dominick, almost 2 nocf and Kaley, 3.5 mos wcf > I have an unborn daughter coming in the Summer who has the mutation. > F405delta and 1717G1->A > > I have done some research and concluded that both of these mutations > are associated with the severe disease(as far as the insufficient > pancrease is concerned). Does anyone else have this mutation set? Is > the pancreatic defficiency the cause of all of the GI issues like > irritable bowels, diahrea, stomache pain? > > My wife and I have used your kind words of inspiration and bravery to > prepare ourselves for the future. ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. ------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 2, 2004 Report Share Posted March 2, 2004 First of all, congratulations on your impending arrival! I'm sure she will be a bundle of joy to you. Any names picked out? People have pretty much said what I believe, though I can say that our son was diagnosed in utero as well, and (unfortunately) I understand the difficulty and pain something like this is. By the way my son has a different mutation set. OK, first the good news: I think it's very safe to say the medical community have not truly discovered a 100% foolproof way to predict CF expression, only associations. I have so much faith in science and medicine, and when I came to accept that some things are not known, I found it much easier to deal with. My wife and I struggled to try to get answers, and of course we could not -realizing that was (for me) a big step. So this means your daughter -though having certain mutations " associated " with certain symptoms -may or may not have CF symptoms expressing early in life, later in life, or maybe not at all. Now the not so good news: obviously it may also mean your daughter does express symptoms -but remember the sooner she is treated, the better off she will be. It sounds like you have gone through trying to learn as much as possible about CF, good for you. The more you know, the better off your daughter will be. She's lucky to have a parent like you -keep up the good work. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 2, 2004 Report Share Posted March 2, 2004 Thanks, everybody for excellent insight. I suspect we will have a let down after the baby is born like someone else mentioned, hadn't thought of that and I will look for that in my wife, too. > I have an unborn daughter coming in the Summer who has the mutation. > F405delta and 1717G1->A > > I have done some research and concluded that both of these mutations > are associated with the severe disease(as far as the insufficient > pancrease is concerned). Does anyone else have this mutation set? Is > the pancreatic defficiency the cause of all of the GI issues like > irritable bowels, diahrea, stomache pain? > > My wife and I have used your kind words of inspiration and bravery to > prepare ourselves for the future. Quote Link to comment Share on other sites More sharing options...
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