So now what?

[Face2thesunshine]

My niece was dx after her newborn screen came back with a marker, then she passed her sweat test, then they did the comprehensive panel and they found a 2nd marker....BUT it supposedly is a rare one that they don't have much info on.

SO....she has been asymptomatic and was only caught by newborn screen, she has had no issues and started only manual CPT.

My SIL weighs her 2x a week, and said she undulates sometimes with her growth. Recently she lost a little wt. They are really scared because this may be the first time that this whole thing is more than a diagnosis. She's not sure if her stools are abnormal, I am a peds nurse but am in a different state. I ask if they are waxy, etc, but they've never seen other babies' poop so they don't know.

Do any of you know of babies' only dx d/t newborn screen? Have they had less severe sx?

 

[Face2thesunshine]

My niece was dx after her newborn screen came back with a marker, then she passed her sweat test, then they did the comprehensive panel and they found a 2nd marker....BUT it supposedly is a rare one that they don't have much info on.

SO....she has been asymptomatic and was only caught by newborn screen, she has had no issues and started only manual CPT.

My SIL weighs her 2x a week, and said she undulates sometimes with her growth. Recently she lost a little wt. They are really scared because this may be the first time that this whole thing is more than a diagnosis. She's not sure if her stools are abnormal, I am a peds nurse but am in a different state. I ask if they are waxy, etc, but they've never seen other babies' poop so they don't know.

Do any of you know of babies' only dx d/t newborn screen? Have they had less severe sx?

 

[Face2thesunshine]

My niece was dx after her newborn screen came back with a marker, then she passed her sweat test, then they did the comprehensive panel and they found a 2nd marker....BUT it supposedly is a rare one that they don't have much info on.

SO....she has been asymptomatic and was only caught by newborn screen, she has had no issues and started only manual CPT.

My SIL weighs her 2x a week, and said she undulates sometimes with her growth. Recently she lost a little wt. They are really scared because this may be the first time that this whole thing is more than a diagnosis. She's not sure if her stools are abnormal, I am a peds nurse but am in a different state. I ask if they are waxy, etc, but they've never seen other babies' poop so they don't know.

Do any of you know of babies' only dx d/t newborn screen? Have they had less severe sx?

 

[Face2thesunshine]

Oh, and she's almost 1 yr old.

 

[Face2thesunshine]

Oh, and she's almost 1 yr old.

 

[Face2thesunshine]

Oh, and she's almost 1 yr old.

 

[Rebjane]

Hi there,

A couple things, they(the docs) can do a fecal fat test to check your nieces stool to see if she is malabsorbing(common in most with CF). Does your niece take supplemental pancreatic enzymes? Again common to takes enzymes for CF'ers who are malabsorbing. A quick non scientific way to test if there is fat in the stool is to take a stool and drop it in the toilet, if it floats there is fat in it , if it sinks it's absorbing(no fat).

Mu daughter with CF is 4(today is her b-day) and she has severe pancreatic insufficiency. She has taken enzymes since she was 2 weeks old and they help her grow, if fact my mom saw Maggie a few days ago and hadn't seen her in months and noted how she even looks a little chubby.

Could your niece becoming more mobile and using up more calories as well? It is very important to keep up with good nutrition with CF. It is noe of our best defenses to keep our CF loved ones healthy.

Any more questions, ask away.

Rebecca(mom to Sammy 8 no CF and Maggie 4 with CF)

 

[Rebjane]

Hi there,

A couple things, they(the docs) can do a fecal fat test to check your nieces stool to see if she is malabsorbing(common in most with CF). Does your niece take supplemental pancreatic enzymes? Again common to takes enzymes for CF'ers who are malabsorbing. A quick non scientific way to test if there is fat in the stool is to take a stool and drop it in the toilet, if it floats there is fat in it , if it sinks it's absorbing(no fat).

Mu daughter with CF is 4(today is her b-day) and she has severe pancreatic insufficiency. She has taken enzymes since she was 2 weeks old and they help her grow, if fact my mom saw Maggie a few days ago and hadn't seen her in months and noted how she even looks a little chubby.

Could your niece becoming more mobile and using up more calories as well? It is very important to keep up with good nutrition with CF. It is noe of our best defenses to keep our CF loved ones healthy.

Any more questions, ask away.

Rebecca(mom to Sammy 8 no CF and Maggie 4 with CF)

 

[Rebjane]

Hi there,

A couple things, they(the docs) can do a fecal fat test to check your nieces stool to see if she is malabsorbing(common in most with CF). Does your niece take supplemental pancreatic enzymes? Again common to takes enzymes for CF'ers who are malabsorbing. A quick non scientific way to test if there is fat in the stool is to take a stool and drop it in the toilet, if it floats there is fat in it , if it sinks it's absorbing(no fat).

Mu daughter with CF is 4(today is her b-day) and she has severe pancreatic insufficiency. She has taken enzymes since she was 2 weeks old and they help her grow, if fact my mom saw Maggie a few days ago and hadn't seen her in months and noted how she even looks a little chubby.

Could your niece becoming more mobile and using up more calories as well? It is very important to keep up with good nutrition with CF. It is noe of our best defenses to keep our CF loved ones healthy.

Any more questions, ask away.

Rebecca(mom to Sammy 8 no CF and Maggie 4 with CF)

 

[Face2thesunshine]

Thanks Rebecca!
No, she hasn't been on any enzymes and she is learning to crawl and cruise so there is a very good chance she is just doing normal baby stuff.
As scary as it may be for my brother to actually have this dx become real with symptoms, at least it's (possibly) something manageable like a mild malabsorption issue for her (by mild I mean it hasn't caused any problms until now).
You want to hear something crazy? There are 3 of us siblings, I am the youngest, and all of our children have an issue, my fist son died at birth d/t fetal distress, my brother's oldest daughter is born with Down Syndrome (she' now 2 y.o.) and then our oldest brother has a daughter who we find out has CF. What the heck??? Our family health history was normal, this was all out of the blue! Talk about overwhelming.

 

[Face2thesunshine]

Thanks Rebecca!
No, she hasn't been on any enzymes and she is learning to crawl and cruise so there is a very good chance she is just doing normal baby stuff.
As scary as it may be for my brother to actually have this dx become real with symptoms, at least it's (possibly) something manageable like a mild malabsorption issue for her (by mild I mean it hasn't caused any problms until now).
You want to hear something crazy? There are 3 of us siblings, I am the youngest, and all of our children have an issue, my fist son died at birth d/t fetal distress, my brother's oldest daughter is born with Down Syndrome (she' now 2 y.o.) and then our oldest brother has a daughter who we find out has CF. What the heck??? Our family health history was normal, this was all out of the blue! Talk about overwhelming.

 

[Face2thesunshine]

Thanks Rebecca!
No, she hasn't been on any enzymes and she is learning to crawl and cruise so there is a very good chance she is just doing normal baby stuff.
As scary as it may be for my brother to actually have this dx become real with symptoms, at least it's (possibly) something manageable like a mild malabsorption issue for her (by mild I mean it hasn't caused any problms until now).
You want to hear something crazy? There are 3 of us siblings, I am the youngest, and all of our children have an issue, my fist son died at birth d/t fetal distress, my brother's oldest daughter is born with Down Syndrome (she' now 2 y.o.) and then our oldest brother has a daughter who we find out has CF. What the heck??? Our family health history was normal, this was all out of the blue! Talk about overwhelming.

 

[charl72]

My 3 year old daughter was diagnosed when she was 6 weeks old on screening. Came as a total shock.<img src="i/expressions/rose.gif" border="0">

 

[charl72]

My 3 year old daughter was diagnosed when she was 6 weeks old on screening. Came as a total shock.<img src="i/expressions/rose.gif" border="0">

 

[charl72]

My 3 year old daughter was diagnosed when she was 6 weeks old on screening. Came as a total shock.<img src="i/expressions/rose.gif" border="0">

 

[charl72]

She takes enzymes, preventative antibiotic, nebs twice a day, multivitamins. <img src="i/expressions/face-icon-small-wink.gif" border="0">

 

[charl72]

She takes enzymes, preventative antibiotic, nebs twice a day, multivitamins. <img src="i/expressions/face-icon-small-wink.gif" border="0">

 

[charl72]

She takes enzymes, preventative antibiotic, nebs twice a day, multivitamins. <img src="i/expressions/face-icon-small-wink.gif" border="0">

 

[charl72]

My 5 year old eldest daughter (she was 2 at the time) did a sweat test just to confirm if she had CF or not. She was also screened at 6 weeks and came back negative, but because her younger sister was diagnosed CF they asked if we wanted to repeat it and we did. Don't know yet whether she is a carrier of the CF gene or not, don't feel the need to know at the moment.<img src="i/expressions/face-icon-small-cool.gif" border="0">

 

[charl72]

My 5 year old eldest daughter (she was 2 at the time) did a sweat test just to confirm if she had CF or not. She was also screened at 6 weeks and came back negative, but because her younger sister was diagnosed CF they asked if we wanted to repeat it and we did. Don't know yet whether she is a carrier of the CF gene or not, don't feel the need to know at the moment.<img src="i/expressions/face-icon-small-cool.gif" border="0">