diagnosed without symptoms

[Ratatosk]

Ditto to checking with steve on the mutations. Does he have any digestive issues -- loose stools despite being fairly high in the percentile? With the delta f508 gene, their COULD be issues with digestion, pancreatic insufficiency and eventually with growth (keeping on weight).

Important that you just be proactive and vigilant to continue to keep his lungs healthy.

 

[Ratatosk]

Ditto to checking with steve on the mutations. Does he have any digestive issues -- loose stools despite being fairly high in the percentile? With the delta f508 gene, their COULD be issues with digestion, pancreatic insufficiency and eventually with growth (keeping on weight).

Important that you just be proactive and vigilant to continue to keep his lungs healthy.

 

[Ratatosk]

Ditto to checking with steve on the mutations. Does he have any digestive issues -- loose stools despite being fairly high in the percentile? With the delta f508 gene, their COULD be issues with digestion, pancreatic insufficiency and eventually with growth (keeping on weight).

Important that you just be proactive and vigilant to continue to keep his lungs healthy.

 

[Ratatosk]

Ditto to checking with steve on the mutations. Does he have any digestive issues -- loose stools despite being fairly high in the percentile? With the delta f508 gene, their COULD be issues with digestion, pancreatic insufficiency and eventually with growth (keeping on weight).

Important that you just be proactive and vigilant to continue to keep his lungs healthy.

 

[Ratatosk]

Ditto to checking with steve on the mutations. Does he have any digestive issues -- loose stools despite being fairly high in the percentile? With the delta f508 gene, their COULD be issues with digestion, pancreatic insufficiency and eventually with growth (keeping on weight).
<br />
<br />Important that you just be proactive and vigilant to continue to keep his lungs healthy.

 

[Juliet]

I wasn't diagnosed until 43 (March of 2008). I'm pancreatic sufficient. I'm overweight and didn't have the failure to thrive thing as a child. My sweat tests were 40 and 47 a few years ago. As CF goes I'm relatively healthy, %FEV1 in the high 60s to low 70s range. One of my genes is DF508 the other a very rare but known 'disease causing mutation' and I also have a third mutation which Ambry called a 'novel variant'. My Ambry report stated that 'if they are on different chromosomes these known deleterious mutations would be expected to cause CF.' What was explained to me about the term 'novel variant' is that they know it's different from what they'd expect as normal, but they're not sure if it's disease causing or not because it hasn't been seen very often (if at all). In my case my 3rd mutation I'm the first one they've seen it in.

CF is all about maintenance. Being proactive and staying healthy. Setting up a lifetime of good habits and practices. Also education about CF is very important. I've been pretty lucky but I do wonder what would be different had I known I had CF sooner. ~Juliet

 

[Juliet]

I wasn't diagnosed until 43 (March of 2008). I'm pancreatic sufficient. I'm overweight and didn't have the failure to thrive thing as a child. My sweat tests were 40 and 47 a few years ago. As CF goes I'm relatively healthy, %FEV1 in the high 60s to low 70s range. One of my genes is DF508 the other a very rare but known 'disease causing mutation' and I also have a third mutation which Ambry called a 'novel variant'. My Ambry report stated that 'if they are on different chromosomes these known deleterious mutations would be expected to cause CF.' What was explained to me about the term 'novel variant' is that they know it's different from what they'd expect as normal, but they're not sure if it's disease causing or not because it hasn't been seen very often (if at all). In my case my 3rd mutation I'm the first one they've seen it in.

CF is all about maintenance. Being proactive and staying healthy. Setting up a lifetime of good habits and practices. Also education about CF is very important. I've been pretty lucky but I do wonder what would be different had I known I had CF sooner. ~Juliet

 

[Juliet]

I wasn't diagnosed until 43 (March of 2008). I'm pancreatic sufficient. I'm overweight and didn't have the failure to thrive thing as a child. My sweat tests were 40 and 47 a few years ago. As CF goes I'm relatively healthy, %FEV1 in the high 60s to low 70s range. One of my genes is DF508 the other a very rare but known 'disease causing mutation' and I also have a third mutation which Ambry called a 'novel variant'. My Ambry report stated that 'if they are on different chromosomes these known deleterious mutations would be expected to cause CF.' What was explained to me about the term 'novel variant' is that they know it's different from what they'd expect as normal, but they're not sure if it's disease causing or not because it hasn't been seen very often (if at all). In my case my 3rd mutation I'm the first one they've seen it in.

CF is all about maintenance. Being proactive and staying healthy. Setting up a lifetime of good habits and practices. Also education about CF is very important. I've been pretty lucky but I do wonder what would be different had I known I had CF sooner. ~Juliet

 

[Juliet]

I wasn't diagnosed until 43 (March of 2008). I'm pancreatic sufficient. I'm overweight and didn't have the failure to thrive thing as a child. My sweat tests were 40 and 47 a few years ago. As CF goes I'm relatively healthy, %FEV1 in the high 60s to low 70s range. One of my genes is DF508 the other a very rare but known 'disease causing mutation' and I also have a third mutation which Ambry called a 'novel variant'. My Ambry report stated that 'if they are on different chromosomes these known deleterious mutations would be expected to cause CF.' What was explained to me about the term 'novel variant' is that they know it's different from what they'd expect as normal, but they're not sure if it's disease causing or not because it hasn't been seen very often (if at all). In my case my 3rd mutation I'm the first one they've seen it in.

CF is all about maintenance. Being proactive and staying healthy. Setting up a lifetime of good habits and practices. Also education about CF is very important. I've been pretty lucky but I do wonder what would be different had I known I had CF sooner. ~Juliet

 

[Juliet]

I wasn't diagnosed until 43 (March of 2008). I'm pancreatic sufficient. I'm overweight and didn't have the failure to thrive thing as a child. My sweat tests were 40 and 47 a few years ago. As CF goes I'm relatively healthy, %FEV1 in the high 60s to low 70s range. One of my genes is DF508 the other a very rare but known 'disease causing mutation' and I also have a third mutation which Ambry called a 'novel variant'. My Ambry report stated that 'if they are on different chromosomes these known deleterious mutations would be expected to cause CF.' What was explained to me about the term 'novel variant' is that they know it's different from what they'd expect as normal, but they're not sure if it's disease causing or not because it hasn't been seen very often (if at all). In my case my 3rd mutation I'm the first one they've seen it in.
<br />
<br />CF is all about maintenance. Being proactive and staying healthy. Setting up a lifetime of good habits and practices. Also education about CF is very important. I've been pretty lucky but I do wonder what would be different had I known I had CF sooner. ~Juliet

 

[Mommafirst]

hello frysk.

My daughter was diagnosed nearly two years ago in a very similar situation. Although we didn't have the newborn screen here, she was tested for CF because she was born with a meconium plug (not quite the same as meconium illeus -- usually a symptom of CF). We discovered she had one common CF gene and one very uncommon one (not novel, but only 5 others with it). Like you, we were told that they don't really know if/when she'll develop symptoms. We were told to be hopeful because it was a good chance she would do quite well.

Her first year was tough. She developed several upper respiratory things and eventually wound up hospitalized for a CF exacerbation and on IVs for three weeks. This was 14 months ago and ever since she has been doing fantastically. Not one cough, no need for antibiotics, just doing great. She had a bronchoscopy and it showed she has no mucous in her lungs, no current lung involvement. She's a bit small and struggles to grown, but is considered pancreatic sufficient and takes enzymes anyway.

Our day to day life is the same as every other kid with CF. We do her vest (CPT), we give enzymes and vitamins, and high cal diets. We neb albuterol and pulmozyme.

We've thought long and hard on this and have decided that we'd rather look back 20 (or 30 or 40) years from now knowing we've done everything we can to keep her lungs healthy and hope she'll still be doing as great, rather than look back and know we didn't do everything and wonder if her lung damage was our fault.

I know the unknown is incredibly difficult to accept.

I don't know when symptoms will really show themselves. I hope her lungs will remain

 

[Mommafirst]

hello frysk.

My daughter was diagnosed nearly two years ago in a very similar situation. Although we didn't have the newborn screen here, she was tested for CF because she was born with a meconium plug (not quite the same as meconium illeus -- usually a symptom of CF). We discovered she had one common CF gene and one very uncommon one (not novel, but only 5 others with it). Like you, we were told that they don't really know if/when she'll develop symptoms. We were told to be hopeful because it was a good chance she would do quite well.

Her first year was tough. She developed several upper respiratory things and eventually wound up hospitalized for a CF exacerbation and on IVs for three weeks. This was 14 months ago and ever since she has been doing fantastically. Not one cough, no need for antibiotics, just doing great. She had a bronchoscopy and it showed she has no mucous in her lungs, no current lung involvement. She's a bit small and struggles to grown, but is considered pancreatic sufficient and takes enzymes anyway.

Our day to day life is the same as every other kid with CF. We do her vest (CPT), we give enzymes and vitamins, and high cal diets. We neb albuterol and pulmozyme.

We've thought long and hard on this and have decided that we'd rather look back 20 (or 30 or 40) years from now knowing we've done everything we can to keep her lungs healthy and hope she'll still be doing as great, rather than look back and know we didn't do everything and wonder if her lung damage was our fault.

I know the unknown is incredibly difficult to accept.

I don't know when symptoms will really show themselves. I hope her lungs will remain

 

[Mommafirst]

hello frysk.

My daughter was diagnosed nearly two years ago in a very similar situation. Although we didn't have the newborn screen here, she was tested for CF because she was born with a meconium plug (not quite the same as meconium illeus -- usually a symptom of CF). We discovered she had one common CF gene and one very uncommon one (not novel, but only 5 others with it). Like you, we were told that they don't really know if/when she'll develop symptoms. We were told to be hopeful because it was a good chance she would do quite well.

Her first year was tough. She developed several upper respiratory things and eventually wound up hospitalized for a CF exacerbation and on IVs for three weeks. This was 14 months ago and ever since she has been doing fantastically. Not one cough, no need for antibiotics, just doing great. She had a bronchoscopy and it showed she has no mucous in her lungs, no current lung involvement. She's a bit small and struggles to grown, but is considered pancreatic sufficient and takes enzymes anyway.

Our day to day life is the same as every other kid with CF. We do her vest (CPT), we give enzymes and vitamins, and high cal diets. We neb albuterol and pulmozyme.

We've thought long and hard on this and have decided that we'd rather look back 20 (or 30 or 40) years from now knowing we've done everything we can to keep her lungs healthy and hope she'll still be doing as great, rather than look back and know we didn't do everything and wonder if her lung damage was our fault.

I know the unknown is incredibly difficult to accept.

I don't know when symptoms will really show themselves. I hope her lungs will remain

 

[Mommafirst]

hello frysk.

My daughter was diagnosed nearly two years ago in a very similar situation. Although we didn't have the newborn screen here, she was tested for CF because she was born with a meconium plug (not quite the same as meconium illeus -- usually a symptom of CF). We discovered she had one common CF gene and one very uncommon one (not novel, but only 5 others with it). Like you, we were told that they don't really know if/when she'll develop symptoms. We were told to be hopeful because it was a good chance she would do quite well.

Her first year was tough. She developed several upper respiratory things and eventually wound up hospitalized for a CF exacerbation and on IVs for three weeks. This was 14 months ago and ever since she has been doing fantastically. Not one cough, no need for antibiotics, just doing great. She had a bronchoscopy and it showed she has no mucous in her lungs, no current lung involvement. She's a bit small and struggles to grown, but is considered pancreatic sufficient and takes enzymes anyway.

Our day to day life is the same as every other kid with CF. We do her vest (CPT), we give enzymes and vitamins, and high cal diets. We neb albuterol and pulmozyme.

We've thought long and hard on this and have decided that we'd rather look back 20 (or 30 or 40) years from now knowing we've done everything we can to keep her lungs healthy and hope she'll still be doing as great, rather than look back and know we didn't do everything and wonder if her lung damage was our fault.

I know the unknown is incredibly difficult to accept.

I don't know when symptoms will really show themselves. I hope her lungs will remain

 

[Mommafirst]

hello frysk.
<br />
<br />My daughter was diagnosed nearly two years ago in a very similar situation. Although we didn't have the newborn screen here, she was tested for CF because she was born with a meconium plug (not quite the same as meconium illeus -- usually a symptom of CF). We discovered she had one common CF gene and one very uncommon one (not novel, but only 5 others with it). Like you, we were told that they don't really know if/when she'll develop symptoms. We were told to be hopeful because it was a good chance she would do quite well.
<br />
<br />Her first year was tough. She developed several upper respiratory things and eventually wound up hospitalized for a CF exacerbation and on IVs for three weeks. This was 14 months ago and ever since she has been doing fantastically. Not one cough, no need for antibiotics, just doing great. She had a bronchoscopy and it showed she has no mucous in her lungs, no current lung involvement. She's a bit small and struggles to grown, but is considered pancreatic sufficient and takes enzymes anyway.
<br />
<br />Our day to day life is the same as every other kid with CF. We do her vest (CPT), we give enzymes and vitamins, and high cal diets. We neb albuterol and pulmozyme.
<br />
<br />We've thought long and hard on this and have decided that we'd rather look back 20 (or 30 or 40) years from now knowing we've done everything we can to keep her lungs healthy and hope she'll still be doing as great, rather than look back and know we didn't do everything and wonder if her lung damage was our fault.
<br />
<br />I know the unknown is incredibly difficult to accept.
<br />
<br />I don't know when symptoms will really show themselves. I hope her lungs will remain

 

[Aspiemom]

Although I showed some symptoms starting in my teens, I wasn't diagnosed until I was 43. I'm sorry for the diagnosis, but you're very fortunate that they test babies now because you will be able to stay on top of things better and be proactive, where I was misdiagnosed for years and it caused damage.

Best of luck with your little one!

 

[Aspiemom]

Although I showed some symptoms starting in my teens, I wasn't diagnosed until I was 43. I'm sorry for the diagnosis, but you're very fortunate that they test babies now because you will be able to stay on top of things better and be proactive, where I was misdiagnosed for years and it caused damage.

Best of luck with your little one!

 

[Aspiemom]

Although I showed some symptoms starting in my teens, I wasn't diagnosed until I was 43. I'm sorry for the diagnosis, but you're very fortunate that they test babies now because you will be able to stay on top of things better and be proactive, where I was misdiagnosed for years and it caused damage.

Best of luck with your little one!

 

[Aspiemom]

Although I showed some symptoms starting in my teens, I wasn't diagnosed until I was 43. I'm sorry for the diagnosis, but you're very fortunate that they test babies now because you will be able to stay on top of things better and be proactive, where I was misdiagnosed for years and it caused damage.

Best of luck with your little one!

 

[Aspiemom]

Although I showed some symptoms starting in my teens, I wasn't diagnosed until I was 43. I'm sorry for the diagnosis, but you're very fortunate that they test babies now because you will be able to stay on top of things better and be proactive, where I was misdiagnosed for years and it caused damage.
<br />
<br />Best of luck with your little one!