ibelievethereishope
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Our story so far and then some questions...I was screened for CF carrier at 14 weeks gestation, without my knowledge and was called while I was on vacation at the beach and told that I was indeed a carrier...what?? They then said they'd just have to test my husband to rule out that he was a carrier which they made it seem like would be a one in a million chance (more like 1 in 400 marriages I have recently learned). Well, wouldn't you know we found out a few weeks later that he too was a carrier. We declined genetic counseling, didn't even see the test results and did not opt for amnio to find out in utero if the baby had it. I did do enough research at the time to at least know what the disease was, but the entire rest of my pregnancy put it behind me....with only a 25% chance I just knew we would beat the odds. (Boy was I wrong!) During my last month of pregnancy I did some research on infant screening so that I could be prepared in the hospital to tell them just what I wanted. At 41 weeks I went for my weekly visit to discuss induction and when the doctor checked me my water broke. I also started to hemorrhage and was rushed to the hospital and delivered via emergency C-section (rapid placenta abruption) a beautiful 8 lb baby boy. The next day we discussed the CF screening with the pediatrician and met with a geneticist. They called and were able to get mine and my husband's test results which showed we both carried the Delta F508 mutation and they were going to do a heel prick genetic blood test on our son to look for this particular gene. We were in the hospital for 5 days for my recovery...baby was doing great! The following week at his 1 week ped check he had gained back the 6 oz he lost in the hospital plus 4 oz's and he checked out great! We got "the call" when he was 10 days old....he had inherited the defective F508 gene from us both and he has CF. That, by far, was the worst day of my life!! We have been to the CF clinic once, stool sample positive for fat (which I could have told you from the smell and "oil" in them) and we have since started enzymes (Creon 5, 1/2 capsule). We go back next Thursday for his next "monthly" visit. And that, my friends, is where we stand with this as of now. Did I mention that we tried unsuccessfully for 5 years to have a baby and conceived him through fertility? It was not supposed to go like this!!
Ok...here are some of my questions, I'm sure I'll think of more and will post them as I do, but I mostly want to know about the treatment (well mostly prevention) of this disease. I have been reading posts here and on other sites for the past 4 weeks and it just seems so sporadic. I know everyone presents and progresses differently, but there must be a standard of care that everyone gets. My one saving grace in all of this was that we found out early and could stay a step ahead of it. I've not had a very good experience (in my opinion) with the CF clinic so far. I have a very difficult time communicating with the pediatric director/pulmonoligist for starters and they took 3 weeks to get us the enzymes he needed after the stool test came back that he basically has only 15% pancreatic functionality. I have had to repeatedly call them for test results instead of them calling us. We have started nothing respiratory-wise. It seems from some of the posts that it can go from all clear to very, very bad in an instant, if though I was told at the clinic that nothing would "crop up" on us overnight??
Would you all mind posting, especially those with infants, what treatment and/or preventative actions your docs started them on at diagnosis? What meds and doses? Anything to prevent lung infection? Anything to keep the mucous buildup to a manageable level? Any and all specifics would be greatly appreciated.
I see a lot of people posting that their child has been "sick" and in and out of the hospital...are you talking about with lung or respiratory problems?? I know all the answers are probably not out there, but it just seems that some people have infections early on and some people don't...where do they come from? Are most of you using an accredited CF center or treating with multiple doctors that treat different parts of the disease? I just want to make sure that we are getting the best care possible, of course, and want to know what is ahead of us in this battle. I can't change the diagnosis so I need to know as much as possible about this disease.
Ok, I'll leave it at that for now....If you took the time to read this all the way through with all my rambling I greatly appreciate it <img src="i/expressions/face-icon-small-smile.gif" border="0"> I don't have much to add to the other posts right now, but I continue to research and learn and hope to be able to provide others with support on here in the future.
Our story so far and then some questions...I was screened for CF carrier at 14 weeks gestation, without my knowledge and was called while I was on vacation at the beach and told that I was indeed a carrier...what?? They then said they'd just have to test my husband to rule out that he was a carrier which they made it seem like would be a one in a million chance (more like 1 in 400 marriages I have recently learned). Well, wouldn't you know we found out a few weeks later that he too was a carrier. We declined genetic counseling, didn't even see the test results and did not opt for amnio to find out in utero if the baby had it. I did do enough research at the time to at least know what the disease was, but the entire rest of my pregnancy put it behind me....with only a 25% chance I just knew we would beat the odds. (Boy was I wrong!) During my last month of pregnancy I did some research on infant screening so that I could be prepared in the hospital to tell them just what I wanted. At 41 weeks I went for my weekly visit to discuss induction and when the doctor checked me my water broke. I also started to hemorrhage and was rushed to the hospital and delivered via emergency C-section (rapid placenta abruption) a beautiful 8 lb baby boy. The next day we discussed the CF screening with the pediatrician and met with a geneticist. They called and were able to get mine and my husband's test results which showed we both carried the Delta F508 mutation and they were going to do a heel prick genetic blood test on our son to look for this particular gene. We were in the hospital for 5 days for my recovery...baby was doing great! The following week at his 1 week ped check he had gained back the 6 oz he lost in the hospital plus 4 oz's and he checked out great! We got "the call" when he was 10 days old....he had inherited the defective F508 gene from us both and he has CF. That, by far, was the worst day of my life!! We have been to the CF clinic once, stool sample positive for fat (which I could have told you from the smell and "oil" in them) and we have since started enzymes (Creon 5, 1/2 capsule). We go back next Thursday for his next "monthly" visit. And that, my friends, is where we stand with this as of now. Did I mention that we tried unsuccessfully for 5 years to have a baby and conceived him through fertility? It was not supposed to go like this!!
Ok...here are some of my questions, I'm sure I'll think of more and will post them as I do, but I mostly want to know about the treatment (well mostly prevention) of this disease. I have been reading posts here and on other sites for the past 4 weeks and it just seems so sporadic. I know everyone presents and progresses differently, but there must be a standard of care that everyone gets. My one saving grace in all of this was that we found out early and could stay a step ahead of it. I've not had a very good experience (in my opinion) with the CF clinic so far. I have a very difficult time communicating with the pediatric director/pulmonoligist for starters and they took 3 weeks to get us the enzymes he needed after the stool test came back that he basically has only 15% pancreatic functionality. I have had to repeatedly call them for test results instead of them calling us. We have started nothing respiratory-wise. It seems from some of the posts that it can go from all clear to very, very bad in an instant, if though I was told at the clinic that nothing would "crop up" on us overnight??
Would you all mind posting, especially those with infants, what treatment and/or preventative actions your docs started them on at diagnosis? What meds and doses? Anything to prevent lung infection? Anything to keep the mucous buildup to a manageable level? Any and all specifics would be greatly appreciated.
I see a lot of people posting that their child has been "sick" and in and out of the hospital...are you talking about with lung or respiratory problems?? I know all the answers are probably not out there, but it just seems that some people have infections early on and some people don't...where do they come from? Are most of you using an accredited CF center or treating with multiple doctors that treat different parts of the disease? I just want to make sure that we are getting the best care possible, of course, and want to know what is ahead of us in this battle. I can't change the diagnosis so I need to know as much as possible about this disease.
Ok, I'll leave it at that for now....If you took the time to read this all the way through with all my rambling I greatly appreciate it <img src="i/expressions/face-icon-small-smile.gif" border="0"> I don't have much to add to the other posts right now, but I continue to research and learn and hope to be able to provide others with support on here in the future.