Possible CF - Need Help

CatesMom · Apr 25, 2008

My daughter Cate just had her first birthday. We found out shortly after she was born that her newborn screen was positive for CF. Her IRT was about 90 but it was mutation negative. Since there was no family history of CF, we just kind of forgot about it. But, then she started having trouble gaining weight, and even lost weight a few times. She started at the 50% in weight, got up to the 90% in weight at 3 months, and has steadily fallen since then - she's currently at about the 5-10%. When this started happening, we had a sweat test done, just to rule out CF as a cause of her poor weight gain. Her result was 41, which I was told was an indeterminate result. So, we had an expanded mutation panel done, which tested for 97 of the mutations that cause CF. It was negative, but the doctor told me that he couldn't tell me definitively that she doesn't have CF because there are close to 1300 mutations that can cause CF. Now, we're dealing with Cate's 10th upper respiratory infection. She doesn't attend daycare and isn't around other kids much, so I can't figure out why she keeps having these respiratory infections. She has probably had pneumonia at least twice, but I'm a pediatric resident, so I try to manage her at home rather than taking her into her doctor (bad of me, I know!). She has been hospitalized once with a respiratory infection. She also has had rectal prolapse on two different occasions and has occasional large bulky foul smelling stools. I wanted to know if any of you were diagnosed with any other test than the sweat test or expanded mutation panel. I am trying to figure out if I should take my daughter to a pediatric pulmonologist (who has a ton of experience with CF) and have more testing done, or if I should just quit freaking out and leave it alone. I have a son who has special needs, so I probably over react a little when it comes to Cate. Any advice? Any of you have a similar experience? I would love your input. Thanks!
Barbara
Mom to Cate 04-10-07

CatesMom · Apr 25, 2008

My daughter Cate just had her first birthday. We found out shortly after she was born that her newborn screen was positive for CF. Her IRT was about 90 but it was mutation negative. Since there was no family history of CF, we just kind of forgot about it. But, then she started having trouble gaining weight, and even lost weight a few times. She started at the 50% in weight, got up to the 90% in weight at 3 months, and has steadily fallen since then - she's currently at about the 5-10%. When this started happening, we had a sweat test done, just to rule out CF as a cause of her poor weight gain. Her result was 41, which I was told was an indeterminate result. So, we had an expanded mutation panel done, which tested for 97 of the mutations that cause CF. It was negative, but the doctor told me that he couldn't tell me definitively that she doesn't have CF because there are close to 1300 mutations that can cause CF. Now, we're dealing with Cate's 10th upper respiratory infection. She doesn't attend daycare and isn't around other kids much, so I can't figure out why she keeps having these respiratory infections. She has probably had pneumonia at least twice, but I'm a pediatric resident, so I try to manage her at home rather than taking her into her doctor (bad of me, I know!). She has been hospitalized once with a respiratory infection. She also has had rectal prolapse on two different occasions and has occasional large bulky foul smelling stools. I wanted to know if any of you were diagnosed with any other test than the sweat test or expanded mutation panel. I am trying to figure out if I should take my daughter to a pediatric pulmonologist (who has a ton of experience with CF) and have more testing done, or if I should just quit freaking out and leave it alone. I have a son who has special needs, so I probably over react a little when it comes to Cate. Any advice? Any of you have a similar experience? I would love your input. Thanks!
Barbara
Mom to Cate 04-10-07

CatesMom · Apr 25, 2008

My daughter Cate just had her first birthday. We found out shortly after she was born that her newborn screen was positive for CF. Her IRT was about 90 but it was mutation negative. Since there was no family history of CF, we just kind of forgot about it. But, then she started having trouble gaining weight, and even lost weight a few times. She started at the 50% in weight, got up to the 90% in weight at 3 months, and has steadily fallen since then - she's currently at about the 5-10%. When this started happening, we had a sweat test done, just to rule out CF as a cause of her poor weight gain. Her result was 41, which I was told was an indeterminate result. So, we had an expanded mutation panel done, which tested for 97 of the mutations that cause CF. It was negative, but the doctor told me that he couldn't tell me definitively that she doesn't have CF because there are close to 1300 mutations that can cause CF. Now, we're dealing with Cate's 10th upper respiratory infection. She doesn't attend daycare and isn't around other kids much, so I can't figure out why she keeps having these respiratory infections. She has probably had pneumonia at least twice, but I'm a pediatric resident, so I try to manage her at home rather than taking her into her doctor (bad of me, I know!). She has been hospitalized once with a respiratory infection. She also has had rectal prolapse on two different occasions and has occasional large bulky foul smelling stools. I wanted to know if any of you were diagnosed with any other test than the sweat test or expanded mutation panel. I am trying to figure out if I should take my daughter to a pediatric pulmonologist (who has a ton of experience with CF) and have more testing done, or if I should just quit freaking out and leave it alone. I have a son who has special needs, so I probably over react a little when it comes to Cate. Any advice? Any of you have a similar experience? I would love your input. Thanks!
Barbara
Mom to Cate 04-10-07

CatesMom · Apr 25, 2008

My daughter Cate just had her first birthday. We found out shortly after she was born that her newborn screen was positive for CF. Her IRT was about 90 but it was mutation negative. Since there was no family history of CF, we just kind of forgot about it. But, then she started having trouble gaining weight, and even lost weight a few times. She started at the 50% in weight, got up to the 90% in weight at 3 months, and has steadily fallen since then - she's currently at about the 5-10%. When this started happening, we had a sweat test done, just to rule out CF as a cause of her poor weight gain. Her result was 41, which I was told was an indeterminate result. So, we had an expanded mutation panel done, which tested for 97 of the mutations that cause CF. It was negative, but the doctor told me that he couldn't tell me definitively that she doesn't have CF because there are close to 1300 mutations that can cause CF. Now, we're dealing with Cate's 10th upper respiratory infection. She doesn't attend daycare and isn't around other kids much, so I can't figure out why she keeps having these respiratory infections. She has probably had pneumonia at least twice, but I'm a pediatric resident, so I try to manage her at home rather than taking her into her doctor (bad of me, I know!). She has been hospitalized once with a respiratory infection. She also has had rectal prolapse on two different occasions and has occasional large bulky foul smelling stools. I wanted to know if any of you were diagnosed with any other test than the sweat test or expanded mutation panel. I am trying to figure out if I should take my daughter to a pediatric pulmonologist (who has a ton of experience with CF) and have more testing done, or if I should just quit freaking out and leave it alone. I have a son who has special needs, so I probably over react a little when it comes to Cate. Any advice? Any of you have a similar experience? I would love your input. Thanks!
Barbara
Mom to Cate 04-10-07

CatesMom · Apr 25, 2008

My daughter Cate just had her first birthday. We found out shortly after she was born that her newborn screen was positive for CF. Her IRT was about 90 but it was mutation negative. Since there was no family history of CF, we just kind of forgot about it. But, then she started having trouble gaining weight, and even lost weight a few times. She started at the 50% in weight, got up to the 90% in weight at 3 months, and has steadily fallen since then - she's currently at about the 5-10%. When this started happening, we had a sweat test done, just to rule out CF as a cause of her poor weight gain. Her result was 41, which I was told was an indeterminate result. So, we had an expanded mutation panel done, which tested for 97 of the mutations that cause CF. It was negative, but the doctor told me that he couldn't tell me definitively that she doesn't have CF because there are close to 1300 mutations that can cause CF. Now, we're dealing with Cate's 10th upper respiratory infection. She doesn't attend daycare and isn't around other kids much, so I can't figure out why she keeps having these respiratory infections. She has probably had pneumonia at least twice, but I'm a pediatric resident, so I try to manage her at home rather than taking her into her doctor (bad of me, I know!). She has been hospitalized once with a respiratory infection. She also has had rectal prolapse on two different occasions and has occasional large bulky foul smelling stools. I wanted to know if any of you were diagnosed with any other test than the sweat test or expanded mutation panel. I am trying to figure out if I should take my daughter to a pediatric pulmonologist (who has a ton of experience with CF) and have more testing done, or if I should just quit freaking out and leave it alone. I have a son who has special needs, so I probably over react a little when it comes to Cate. Any advice? Any of you have a similar experience? I would love your input. Thanks!
 Barbara
 Mom to Cate 04-10-07

sunshine07 · Apr 25, 2008

Barbara,
Considering Cate has had 10 respiratory infections, and trouble gaining weight I would get her into an accrediated CF center that can order a full ambry genetics test. If she does have CF which she has the symptoms of she needs to be treated properly. Putting off treatment if she does have CF is only going to make things worse in the long run. It is better to be a little over reactive when dealing with CF. I know this is a hard situation to deal with but there are a lot of wonderful medications and therapies out there that can help Cate if need be. I hope that helps. Good Luck.

Denise mom to Emily born 09/12/06 w/cf & Gavin no/cf

sunshine07 · Apr 25, 2008

Barbara,
Considering Cate has had 10 respiratory infections, and trouble gaining weight I would get her into an accrediated CF center that can order a full ambry genetics test. If she does have CF which she has the symptoms of she needs to be treated properly. Putting off treatment if she does have CF is only going to make things worse in the long run. It is better to be a little over reactive when dealing with CF. I know this is a hard situation to deal with but there are a lot of wonderful medications and therapies out there that can help Cate if need be. I hope that helps. Good Luck.

Denise mom to Emily born 09/12/06 w/cf & Gavin no/cf

sunshine07 · Apr 25, 2008

Barbara,
Considering Cate has had 10 respiratory infections, and trouble gaining weight I would get her into an accrediated CF center that can order a full ambry genetics test. If she does have CF which she has the symptoms of she needs to be treated properly. Putting off treatment if she does have CF is only going to make things worse in the long run. It is better to be a little over reactive when dealing with CF. I know this is a hard situation to deal with but there are a lot of wonderful medications and therapies out there that can help Cate if need be. I hope that helps. Good Luck.

Denise mom to Emily born 09/12/06 w/cf & Gavin no/cf

sunshine07 · Apr 25, 2008

Barbara,
Considering Cate has had 10 respiratory infections, and trouble gaining weight I would get her into an accrediated CF center that can order a full ambry genetics test. If she does have CF which she has the symptoms of she needs to be treated properly. Putting off treatment if she does have CF is only going to make things worse in the long run. It is better to be a little over reactive when dealing with CF. I know this is a hard situation to deal with but there are a lot of wonderful medications and therapies out there that can help Cate if need be. I hope that helps. Good Luck.

Denise mom to Emily born 09/12/06 w/cf & Gavin no/cf

sunshine07 · Apr 25, 2008

Barbara,
 Considering Cate has had 10 respiratory infections, and trouble gaining weight I would get her into an accrediated CF center that can order a full ambry genetics test. If she does have CF which she has the symptoms of she needs to be treated properly. Putting off treatment if she does have CF is only going to make things worse in the long run. It is better to be a little over reactive when dealing with CF. I know this is a hard situation to deal with but there are a lot of wonderful medications and therapies out there that can help Cate if need be. I hope that helps. Good Luck.
 
 Denise mom to Emily born 09/12/06 w/cf & Gavin no/cf

pjspiegle · Apr 25, 2008

Hi,

I don't know if this helps or if you even want to hear this but our pulmonologist told us when our son was born that if the new born screen was positive, then he had CF and that there was only a 1% chance that the newborn screen would be wrong. We did do the sweat test and even did the genetic test because I was so hoping that Nathan would be the 1% but he was not.

With the symptoms you are giving, I think that a reptable and experienced pulmo doc would tell you that it is extremely unlikely that she doesn't have CF. I would definelty take her to an "Accredited" CF center for further testing. Proper treatment will give her the best chance for the best long term outcome and shouldn't be delayed.

I finally had to accept the diagnosis a week after the diagnosis because he came down with RSV and we lived at Children's for 3 months. I can't say for sure how long I would have been in denial had that not occurred.

I hope that your little one will be in that 1% and all turns out just fine for her. However, if she is not, getting the right treatment started will be best for her and give her the best chance at a long normal healthy life expectancy. Life expectancy has increased by something like 12 years since my son was born 14 1/2 years ago so I imagine all those being born now have a really good chance at a normal life expectancy and a even better chance that there will be a cure in their lifetimes.

Let us know how it goes and what you ultimately find out. You and your little one will be in our prayers!

Patty

pjspiegle · Apr 25, 2008

Hi,

I don't know if this helps or if you even want to hear this but our pulmonologist told us when our son was born that if the new born screen was positive, then he had CF and that there was only a 1% chance that the newborn screen would be wrong. We did do the sweat test and even did the genetic test because I was so hoping that Nathan would be the 1% but he was not.

With the symptoms you are giving, I think that a reptable and experienced pulmo doc would tell you that it is extremely unlikely that she doesn't have CF. I would definelty take her to an "Accredited" CF center for further testing. Proper treatment will give her the best chance for the best long term outcome and shouldn't be delayed.

I finally had to accept the diagnosis a week after the diagnosis because he came down with RSV and we lived at Children's for 3 months. I can't say for sure how long I would have been in denial had that not occurred.

I hope that your little one will be in that 1% and all turns out just fine for her. However, if she is not, getting the right treatment started will be best for her and give her the best chance at a long normal healthy life expectancy. Life expectancy has increased by something like 12 years since my son was born 14 1/2 years ago so I imagine all those being born now have a really good chance at a normal life expectancy and a even better chance that there will be a cure in their lifetimes.

Let us know how it goes and what you ultimately find out. You and your little one will be in our prayers!

Patty

pjspiegle · Apr 25, 2008

Hi,

I don't know if this helps or if you even want to hear this but our pulmonologist told us when our son was born that if the new born screen was positive, then he had CF and that there was only a 1% chance that the newborn screen would be wrong. We did do the sweat test and even did the genetic test because I was so hoping that Nathan would be the 1% but he was not.

With the symptoms you are giving, I think that a reptable and experienced pulmo doc would tell you that it is extremely unlikely that she doesn't have CF. I would definelty take her to an "Accredited" CF center for further testing. Proper treatment will give her the best chance for the best long term outcome and shouldn't be delayed.

I finally had to accept the diagnosis a week after the diagnosis because he came down with RSV and we lived at Children's for 3 months. I can't say for sure how long I would have been in denial had that not occurred.

I hope that your little one will be in that 1% and all turns out just fine for her. However, if she is not, getting the right treatment started will be best for her and give her the best chance at a long normal healthy life expectancy. Life expectancy has increased by something like 12 years since my son was born 14 1/2 years ago so I imagine all those being born now have a really good chance at a normal life expectancy and a even better chance that there will be a cure in their lifetimes.

Let us know how it goes and what you ultimately find out. You and your little one will be in our prayers!

Patty

pjspiegle · Apr 25, 2008

Hi,

I don't know if this helps or if you even want to hear this but our pulmonologist told us when our son was born that if the new born screen was positive, then he had CF and that there was only a 1% chance that the newborn screen would be wrong. We did do the sweat test and even did the genetic test because I was so hoping that Nathan would be the 1% but he was not.

With the symptoms you are giving, I think that a reptable and experienced pulmo doc would tell you that it is extremely unlikely that she doesn't have CF. I would definelty take her to an "Accredited" CF center for further testing. Proper treatment will give her the best chance for the best long term outcome and shouldn't be delayed.

I finally had to accept the diagnosis a week after the diagnosis because he came down with RSV and we lived at Children's for 3 months. I can't say for sure how long I would have been in denial had that not occurred.

I hope that your little one will be in that 1% and all turns out just fine for her. However, if she is not, getting the right treatment started will be best for her and give her the best chance at a long normal healthy life expectancy. Life expectancy has increased by something like 12 years since my son was born 14 1/2 years ago so I imagine all those being born now have a really good chance at a normal life expectancy and a even better chance that there will be a cure in their lifetimes.

Let us know how it goes and what you ultimately find out. You and your little one will be in our prayers!

Patty

pjspiegle · Apr 25, 2008

Hi,
 
 I don't know if this helps or if you even want to hear this but our pulmonologist told us when our son was born that if the new born screen was positive, then he had CF and that there was only a 1% chance that the newborn screen would be wrong. We did do the sweat test and even did the genetic test because I was so hoping that Nathan would be the 1% but he was not.
 
 With the symptoms you are giving, I think that a reptable and experienced pulmo doc would tell you that it is extremely unlikely that she doesn't have CF. I would definelty take her to an "Accredited" CF center for further testing. Proper treatment will give her the best chance for the best long term outcome and shouldn't be delayed.
 
 I finally had to accept the diagnosis a week after the diagnosis because he came down with RSV and we lived at Children's for 3 months. I can't say for sure how long I would have been in denial had that not occurred.
 
 I hope that your little one will be in that 1% and all turns out just fine for her. However, if she is not, getting the right treatment started will be best for her and give her the best chance at a long normal healthy life expectancy. Life expectancy has increased by something like 12 years since my son was born 14 1/2 years ago so I imagine all those being born now have a really good chance at a normal life expectancy and a even better chance that there will be a cure in their lifetimes.
 
 Let us know how it goes and what you ultimately find out. You and your little one will be in our prayers!
 
 Patty

sdelorenzo · Apr 25, 2008

I, too, would be very surprised if your daughter didn't have cf. With so many respiratory infections, pnuemonia, rectal prolapse, newborn screening, and 5-10% for weight she has the classic symptoms. Sounds like she needs an ambry test done to check for mutations that are not as common. Even while you wait for that, the best thing would be for a pulmonologist to treat her cf symptoms (enzymes, cpt, respiratory treatments) so you can see if there is an improvement. Hope it is not cf, but you need to find out for sure.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

sdelorenzo · Apr 25, 2008

I, too, would be very surprised if your daughter didn't have cf. With so many respiratory infections, pnuemonia, rectal prolapse, newborn screening, and 5-10% for weight she has the classic symptoms. Sounds like she needs an ambry test done to check for mutations that are not as common. Even while you wait for that, the best thing would be for a pulmonologist to treat her cf symptoms (enzymes, cpt, respiratory treatments) so you can see if there is an improvement. Hope it is not cf, but you need to find out for sure.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

sdelorenzo · Apr 25, 2008

I, too, would be very surprised if your daughter didn't have cf. With so many respiratory infections, pnuemonia, rectal prolapse, newborn screening, and 5-10% for weight she has the classic symptoms. Sounds like she needs an ambry test done to check for mutations that are not as common. Even while you wait for that, the best thing would be for a pulmonologist to treat her cf symptoms (enzymes, cpt, respiratory treatments) so you can see if there is an improvement. Hope it is not cf, but you need to find out for sure.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

sdelorenzo · Apr 25, 2008

I, too, would be very surprised if your daughter didn't have cf. With so many respiratory infections, pnuemonia, rectal prolapse, newborn screening, and 5-10% for weight she has the classic symptoms. Sounds like she needs an ambry test done to check for mutations that are not as common. Even while you wait for that, the best thing would be for a pulmonologist to treat her cf symptoms (enzymes, cpt, respiratory treatments) so you can see if there is an improvement. Hope it is not cf, but you need to find out for sure.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

sdelorenzo · Apr 25, 2008

I, too, would be very surprised if your daughter didn't have cf. With so many respiratory infections, pnuemonia, rectal prolapse, newborn screening, and 5-10% for weight she has the classic symptoms. Sounds like she needs an ambry test done to check for mutations that are not as common. Even while you wait for that, the best thing would be for a pulmonologist to treat her cf symptoms (enzymes, cpt, respiratory treatments) so you can see if there is an improvement. Hope it is not cf, but you need to find out for sure.
 Sharon, mom of Sophia, 6 and Jack, 4 both with cf

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