Just found out

[biz]

Hi Nicole, my son is 14 months old and we have been going to Childrens Hospital of Philadelphia since the day we found out they have a CF center in the hospital so your not mixed in with just anybody and we have a CF doctor nurse nutritionist and social worker that we see every visit. we are very happy there. if you would like more info i can answer any questions you may have to the best that i can.



Elizabeth
pround mom of Aidan 14 months w/CF

 

[OperaMama]

Like everyone, my heart goes to you: it's a bad path to have to be on, but it's not all bumps! And your baby may not have a severe case! My 4 1/2 year-old boy was only diagnosed a few months ago; granted, things may have been better for him over the past three years if we had known... Nonetheless, my point is that your daughter may have a mild case and you will be able to keep her in the highly funtional zone for longer because of the steps taken now. And even if her case is less mild, knowing before birth arms you with the proper knowledge, strength, hope, and determination to keep her healthy until the cure we all await.

Meanwhile, ensure your health in EVERY WAY POSSIBLE during this delicate time. There are a lot of us out here pulling for each other and now you as well.

M'nell
mother of Francis, 4 1/2 w/ CF and Roz, 2 1/2 w/o

 

[OperaMama]

Like everyone, my heart goes to you: it's a bad path to have to be on, but it's not all bumps! And your baby may not have a severe case! My 4 1/2 year-old boy was only diagnosed a few months ago; granted, things may have been better for him over the past three years if we had known... Nonetheless, my point is that your daughter may have a mild case and you will be able to keep her in the highly funtional zone for longer because of the steps taken now. And even if her case is less mild, knowing before birth arms you with the proper knowledge, strength, hope, and determination to keep her healthy until the cure we all await.

Meanwhile, ensure your health in EVERY WAY POSSIBLE during this delicate time. There are a lot of us out here pulling for each other and now you as well.

M'nell
mother of Francis, 4 1/2 w/ CF and Roz, 2 1/2 w/o

 

[OperaMama]

Like everyone, my heart goes to you: it's a bad path to have to be on, but it's not all bumps! And your baby may not have a severe case! My 4 1/2 year-old boy was only diagnosed a few months ago; granted, things may have been better for him over the past three years if we had known... Nonetheless, my point is that your daughter may have a mild case and you will be able to keep her in the highly funtional zone for longer because of the steps taken now. And even if her case is less mild, knowing before birth arms you with the proper knowledge, strength, hope, and determination to keep her healthy until the cure we all await.

Meanwhile, ensure your health in EVERY WAY POSSIBLE during this delicate time. There are a lot of us out here pulling for each other and now you as well.

M'nell
mother of Francis, 4 1/2 w/ CF and Roz, 2 1/2 w/o

 

[nicole781]

Thank you so much to everyone who has responded. It means alot to know that there are other people who have been where I am now, and are now where I'm going to be. I'm just trying to get as much information as i can now, without scaring myself in the process. It's still hard, I was nervous about everything anyway, since this is my first baby, and then with this news, you can just imagine. I've been looking at this site, and you guys are so strong, it gives me something to look up to. I'm really glad I found this place. All of your support means so much to me.....I'm pulling for you guys too!

 

[nicole781]

Thank you so much to everyone who has responded. It means alot to know that there are other people who have been where I am now, and are now where I'm going to be. I'm just trying to get as much information as i can now, without scaring myself in the process. It's still hard, I was nervous about everything anyway, since this is my first baby, and then with this news, you can just imagine. I've been looking at this site, and you guys are so strong, it gives me something to look up to. I'm really glad I found this place. All of your support means so much to me.....I'm pulling for you guys too!

 

[nicole781]

Thank you so much to everyone who has responded. It means alot to know that there are other people who have been where I am now, and are now where I'm going to be. I'm just trying to get as much information as i can now, without scaring myself in the process. It's still hard, I was nervous about everything anyway, since this is my first baby, and then with this news, you can just imagine. I've been looking at this site, and you guys are so strong, it gives me something to look up to. I'm really glad I found this place. All of your support means so much to me.....I'm pulling for you guys too!

 

[Hughett]

I am sorry for the news. It's hard to believe that it was 7 months ago that my wife and I went thru the same thing. I can tell you without a doubt that its sooooo good that you caught this as early. That will save you and your baby some uncomfortable times. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I also know how hard it is to learn about CF. I had to take it in small bits. I went to the chat here at this sight once and didn't last but a few min. with what they were talking about. lol. You will grow stronger and wiser in these next few months. If you have any question come here to this site and post a question. My family and I had to do that alot at first. The people here on this site are sooo friendly and helpful. It's hard to think of what we would have done if not for the people here. (big thank you to y'all)

Just know that your not alone and we are all here to help.

 

[Hughett]

I am sorry for the news. It's hard to believe that it was 7 months ago that my wife and I went thru the same thing. I can tell you without a doubt that its sooooo good that you caught this as early. That will save you and your baby some uncomfortable times. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I also know how hard it is to learn about CF. I had to take it in small bits. I went to the chat here at this sight once and didn't last but a few min. with what they were talking about. lol. You will grow stronger and wiser in these next few months. If you have any question come here to this site and post a question. My family and I had to do that alot at first. The people here on this site are sooo friendly and helpful. It's hard to think of what we would have done if not for the people here. (big thank you to y'all)

Just know that your not alone and we are all here to help.

 

[Hughett]

I am sorry for the news. It's hard to believe that it was 7 months ago that my wife and I went thru the same thing. I can tell you without a doubt that its sooooo good that you caught this as early. That will save you and your baby some uncomfortable times. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I also know how hard it is to learn about CF. I had to take it in small bits. I went to the chat here at this sight once and didn't last but a few min. with what they were talking about. lol. You will grow stronger and wiser in these next few months. If you have any question come here to this site and post a question. My family and I had to do that alot at first. The people here on this site are sooo friendly and helpful. It's hard to think of what we would have done if not for the people here. (big thank you to y'all)

Just know that your not alone and we are all here to help.

 

[nicole781]

I spoke to my genetic counselor today, and she said that the mutation that she has is delta f508....is this good, bad? I know it varies, but i was just wondering if anyone knows anything about it?

 

[nicole781]

I spoke to my genetic counselor today, and she said that the mutation that she has is delta f508....is this good, bad? I know it varies, but i was just wondering if anyone knows anything about it?

 

[nicole781]

I spoke to my genetic counselor today, and she said that the mutation that she has is delta f508....is this good, bad? I know it varies, but i was just wondering if anyone knows anything about it?

 

[Ratatosk]

Is it two copies? Homozygous delta f508? That's what DS has. He's pancreatic insufficient, meaning he needs to take digestive enzymes with meals. We found out because he was born with a bowel obstruction. So if that is the mutation your daughter has, I would encourage you to have your doctor keep an eye on her (ultrasound), to make sure she doesn't have an obstruction caused by meconium illeus. Is there a high level NICU affiliated with the hospital where you're going to give birth?

We've been doing chest physiotherapy 3-4 times a day since he was a week old to keep his lungs healthy. When he was younger -- 6-10 months old, he tended to have more sinus issues.

Everyone is different in terms of symptoms and progression of the disease.

 

[Ratatosk]

Is it two copies? Homozygous delta f508? That's what DS has. He's pancreatic insufficient, meaning he needs to take digestive enzymes with meals. We found out because he was born with a bowel obstruction. So if that is the mutation your daughter has, I would encourage you to have your doctor keep an eye on her (ultrasound), to make sure she doesn't have an obstruction caused by meconium illeus. Is there a high level NICU affiliated with the hospital where you're going to give birth?

We've been doing chest physiotherapy 3-4 times a day since he was a week old to keep his lungs healthy. When he was younger -- 6-10 months old, he tended to have more sinus issues.

Everyone is different in terms of symptoms and progression of the disease.

 

[Ratatosk]

Is it two copies? Homozygous delta f508? That's what DS has. He's pancreatic insufficient, meaning he needs to take digestive enzymes with meals. We found out because he was born with a bowel obstruction. So if that is the mutation your daughter has, I would encourage you to have your doctor keep an eye on her (ultrasound), to make sure she doesn't have an obstruction caused by meconium illeus. Is there a high level NICU affiliated with the hospital where you're going to give birth?

We've been doing chest physiotherapy 3-4 times a day since he was a week old to keep his lungs healthy. When he was younger -- 6-10 months old, he tended to have more sinus issues.

Everyone is different in terms of symptoms and progression of the disease.

 

[nicole781]

This is how the story played out for us.....I went to the doctor and when i was filling out the health history, i put down that my boyfriend HAD cf. I dont know what they did when he was younger, but the's always thought that he had a very mild case. I wasn't too worried, since i didn't know anything about cf at the time, and because he is literally the healthest person i have ever met...not a sniffle the entire time we've been together. When i went to speak with my doctor, and he told me that men with cf tend not to be able to have children naturally, i was even less concerned. They ended up testing me just to make sure, and i came back as a carrier. When we went in for the ultrasound however, the was a bit of an issue with the nucal fold, i think it's called, which is an indicator of down's syndrome. We decided to have an amino based on that, and we brought up the topic of cf to that doctor. My boyfriend hasn't had genetic testing for cf, and right now he doesn't have insurance, so they told us that the test wouldn't be 100%, but it could give us an idea. So we sent it out to the lab, and about a week later the genetic counselor called and said that the baby has 2 mutations both for the delta f508, so it turns out that my boyfriend is a carrier after all. So now i just wonder what that particular mutation means, and if i should be any more worried that i already am?

 

[nicole781]

This is how the story played out for us.....I went to the doctor and when i was filling out the health history, i put down that my boyfriend HAD cf. I dont know what they did when he was younger, but the's always thought that he had a very mild case. I wasn't too worried, since i didn't know anything about cf at the time, and because he is literally the healthest person i have ever met...not a sniffle the entire time we've been together. When i went to speak with my doctor, and he told me that men with cf tend not to be able to have children naturally, i was even less concerned. They ended up testing me just to make sure, and i came back as a carrier. When we went in for the ultrasound however, the was a bit of an issue with the nucal fold, i think it's called, which is an indicator of down's syndrome. We decided to have an amino based on that, and we brought up the topic of cf to that doctor. My boyfriend hasn't had genetic testing for cf, and right now he doesn't have insurance, so they told us that the test wouldn't be 100%, but it could give us an idea. So we sent it out to the lab, and about a week later the genetic counselor called and said that the baby has 2 mutations both for the delta f508, so it turns out that my boyfriend is a carrier after all. So now i just wonder what that particular mutation means, and if i should be any more worried that i already am?

 

[nicole781]

This is how the story played out for us.....I went to the doctor and when i was filling out the health history, i put down that my boyfriend HAD cf. I dont know what they did when he was younger, but the's always thought that he had a very mild case. I wasn't too worried, since i didn't know anything about cf at the time, and because he is literally the healthest person i have ever met...not a sniffle the entire time we've been together. When i went to speak with my doctor, and he told me that men with cf tend not to be able to have children naturally, i was even less concerned. They ended up testing me just to make sure, and i came back as a carrier. When we went in for the ultrasound however, the was a bit of an issue with the nucal fold, i think it's called, which is an indicator of down's syndrome. We decided to have an amino based on that, and we brought up the topic of cf to that doctor. My boyfriend hasn't had genetic testing for cf, and right now he doesn't have insurance, so they told us that the test wouldn't be 100%, but it could give us an idea. So we sent it out to the lab, and about a week later the genetic counselor called and said that the baby has 2 mutations both for the delta f508, so it turns out that my boyfriend is a carrier after all. So now i just wonder what that particular mutation means, and if i should be any more worried that i already am?

 

[Ratatosk]

It's hard to predict the severity of symptoms, progression, etc... I know it's easier said than done, but I'd try not to dwell on that. Just focus on preventative care and keeping your child healthy. Proper lung care... When DS was diagnose, I scoured the internet trying to find people with the same mutation, so I'd know what to expect, but even siblings tend to have varying symptoms, etc.

The main concern would be with that mutation is that she could have a bowel obstruction. There are several of us on the site whose children were diagnosed at birth because of meconium illeus, several whose children were diagnosed because of eugenic bowel showing up during ultrasound.

In our case, we didn't have a clue, DS started hurling green stuff about 12 hours after he was born. Xrays showed an obstruction and he was lifeflighted to the City 250 miles away for emergency surgery, spent 4 weeks in the NICU. So it's important for you and your doctors to know beforehand if this is an issue.