FTT in CF sibling

Mommafirst · Oct 12, 2009

I took my 6 year old son to the pediatrician today. He was officially labeled Failure to Thrive. He weighs 38 lbs and is in the 4th percentile for BMI. He has fallen off his growth curve and now my pedi is concerned.

She wanted to consider a sweat test, but Reese was tested for Alyssa's 2 CF genes back when she was diagnosed and found to just be a carrier of my husband's mutation. So the pedi said we'd do bloodwork for other possible issues. But I'm left questioning myself and the CF center and wondering if an error could have been made. I know that my son could have a second gene, but that would mean I would have to have CF and being a plump 39 year old who has a history of bronchitis and asthma, but having never been hospitalized for them, and having lung funtions well above the 100% predicted when not in the midst of an asthma issue, I really can't imagine that I have CF.

But I find it pretty cooincidental that I should have 2 of my 3 kids diagnosed with failure to thrive for different reasons. I put a call into the CF nurse, though I'm sure they are going to think I'm a lunatic here. AM I being crazy? Have you ever questionned if your non-CFers might have been missed in the process?

Mommafirst · Oct 12, 2009

I took my 6 year old son to the pediatrician today. He was officially labeled Failure to Thrive. He weighs 38 lbs and is in the 4th percentile for BMI. He has fallen off his growth curve and now my pedi is concerned.

She wanted to consider a sweat test, but Reese was tested for Alyssa's 2 CF genes back when she was diagnosed and found to just be a carrier of my husband's mutation. So the pedi said we'd do bloodwork for other possible issues. But I'm left questioning myself and the CF center and wondering if an error could have been made. I know that my son could have a second gene, but that would mean I would have to have CF and being a plump 39 year old who has a history of bronchitis and asthma, but having never been hospitalized for them, and having lung funtions well above the 100% predicted when not in the midst of an asthma issue, I really can't imagine that I have CF.

But I find it pretty cooincidental that I should have 2 of my 3 kids diagnosed with failure to thrive for different reasons. I put a call into the CF nurse, though I'm sure they are going to think I'm a lunatic here. AM I being crazy? Have you ever questionned if your non-CFers might have been missed in the process?

Mommafirst · Oct 12, 2009

I took my 6 year old son to the pediatrician today. He was officially labeled Failure to Thrive. He weighs 38 lbs and is in the 4th percentile for BMI. He has fallen off his growth curve and now my pedi is concerned.

She wanted to consider a sweat test, but Reese was tested for Alyssa's 2 CF genes back when she was diagnosed and found to just be a carrier of my husband's mutation. So the pedi said we'd do bloodwork for other possible issues. But I'm left questioning myself and the CF center and wondering if an error could have been made. I know that my son could have a second gene, but that would mean I would have to have CF and being a plump 39 year old who has a history of bronchitis and asthma, but having never been hospitalized for them, and having lung funtions well above the 100% predicted when not in the midst of an asthma issue, I really can't imagine that I have CF.

But I find it pretty cooincidental that I should have 2 of my 3 kids diagnosed with failure to thrive for different reasons. I put a call into the CF nurse, though I'm sure they are going to think I'm a lunatic here. AM I being crazy? Have you ever questionned if your non-CFers might have been missed in the process?

Mommafirst · Oct 12, 2009

I took my 6 year old son to the pediatrician today. He was officially labeled Failure to Thrive. He weighs 38 lbs and is in the 4th percentile for BMI. He has fallen off his growth curve and now my pedi is concerned.

She wanted to consider a sweat test, but Reese was tested for Alyssa's 2 CF genes back when she was diagnosed and found to just be a carrier of my husband's mutation. So the pedi said we'd do bloodwork for other possible issues. But I'm left questioning myself and the CF center and wondering if an error could have been made. I know that my son could have a second gene, but that would mean I would have to have CF and being a plump 39 year old who has a history of bronchitis and asthma, but having never been hospitalized for them, and having lung funtions well above the 100% predicted when not in the midst of an asthma issue, I really can't imagine that I have CF.

But I find it pretty cooincidental that I should have 2 of my 3 kids diagnosed with failure to thrive for different reasons. I put a call into the CF nurse, though I'm sure they are going to think I'm a lunatic here. AM I being crazy? Have you ever questionned if your non-CFers might have been missed in the process?

Mommafirst · Oct 12, 2009

I took my 6 year old son to the pediatrician today. He was officially labeled Failure to Thrive. He weighs 38 lbs and is in the 4th percentile for BMI. He has fallen off his growth curve and now my pedi is concerned.
 
 She wanted to consider a sweat test, but Reese was tested for Alyssa's 2 CF genes back when she was diagnosed and found to just be a carrier of my husband's mutation. So the pedi said we'd do bloodwork for other possible issues. But I'm left questioning myself and the CF center and wondering if an error could have been made. I know that my son could have a second gene, but that would mean I would have to have CF and being a plump 39 year old who has a history of bronchitis and asthma, but having never been hospitalized for them, and having lung funtions well above the 100% predicted when not in the midst of an asthma issue, I really can't imagine that I have CF.
 
 But I find it pretty cooincidental that I should have 2 of my 3 kids diagnosed with failure to thrive for different reasons. I put a call into the CF nurse, though I'm sure they are going to think I'm a lunatic here. AM I being crazy? Have you ever questionned if your non-CFers might have been missed in the process?

Ratatosk · Oct 12, 2009

Yikes! Hopefully they can get him figured out in a timely manner. I realize there is such a thing as a symptomatic carrier, but this seems to be more than that.

I'd be stressing out as well, wondering about the accuracy of the testing previously...

Ratatosk · Oct 12, 2009

Yikes! Hopefully they can get him figured out in a timely manner. I realize there is such a thing as a symptomatic carrier, but this seems to be more than that.

I'd be stressing out as well, wondering about the accuracy of the testing previously...

Ratatosk · Oct 12, 2009

Yikes! Hopefully they can get him figured out in a timely manner. I realize there is such a thing as a symptomatic carrier, but this seems to be more than that.

I'd be stressing out as well, wondering about the accuracy of the testing previously...

Ratatosk · Oct 12, 2009

Yikes! Hopefully they can get him figured out in a timely manner. I realize there is such a thing as a symptomatic carrier, but this seems to be more than that.

I'd be stressing out as well, wondering about the accuracy of the testing previously...

Ratatosk · Oct 12, 2009

Yikes! Hopefully they can get him figured out in a timely manner. I realize there is such a thing as a symptomatic carrier, but this seems to be more than that.
 
 I'd be stressing out as well, wondering about the accuracy of the testing previously...

stringbean · Oct 13, 2009

My daughter is eight and she is also extremely thin. She is also 38 pounds and her BMI is "under the bottom 1%". Last February, she was diagnosed with PI. She had borderline sweat tests and the genetic testing found one mutation. We were sent to a pulmonologist who said that she does not have CF, but couldn't/wouldn't explain how my daughter could be PI. When I tried to ask that question, I was told to get a second opinion.

A couple of weeks ago, we met with the head of the CF clinic and he explained that they are still discovering a lot about this disease. Years ago, there was only the classic symptoms, but they now realize that that definition just doesn't fit everyone. Some people have two mutations and no symptoms and others will have symptoms without a clear sweat test number or two mutations. I don't have his report in front of me, so I can't tell you the details of what he explained to me. He said that my daughter may/quite probably does have a second mutation. For now, it is being classified as something like CRMA -- I just don't remember the initials. All I remember is Cystic fibrosis Related... can't remember the rest.

He said that they are discovering a number of people who have made it into their 30's or 40's or even 60's without ever being diagnosed, yet they have two (undiscoverd) mutations. They often have a history of asthma or digestive problems, but no one ever suspected CF. Some had no symptoms of any kind, but were tested after their child's diagnosis and discovered that they had two mutations.

I'm not trying to suggest that you have CF, but it seems likely that your son's condition is related to CF, even if it is not in the classic form. Nothing else made any sense in my daughter's case... She has PI and every other explanation for that was ruled out; she had some mild asthma; she has sinus swelling and constant nasal drip (we see the ENT specialist next week). I also felt like I was being a "lunatic" as you describe to keep pressing on this -- but I just want to know what to expect, what to be on the lookout for. She clears her throat all the time, but I always thought it was just an anxiety thing. I was a little surprised to find that her sinuses were completely swollen and she had a lot of mucus running down the back of her throat. So now that I have a diagnosis of sorts, I'll be much more proactive about things that I never knew to be concerned about before.

So, no, I don't think you are a "lunatic" to see the signs and want to know if it's more than just being a skinny kid. That's all I had to go on too... It seems strange, but I feel better knowing something, even if it is CF, than the constant wondering just what could be going on with her! Because she has what she has -- the diagnosis doesn't change her health. It just gives me the knowledge I need to help her...

stringbean · Oct 13, 2009

My daughter is eight and she is also extremely thin. She is also 38 pounds and her BMI is "under the bottom 1%". Last February, she was diagnosed with PI. She had borderline sweat tests and the genetic testing found one mutation. We were sent to a pulmonologist who said that she does not have CF, but couldn't/wouldn't explain how my daughter could be PI. When I tried to ask that question, I was told to get a second opinion.

A couple of weeks ago, we met with the head of the CF clinic and he explained that they are still discovering a lot about this disease. Years ago, there was only the classic symptoms, but they now realize that that definition just doesn't fit everyone. Some people have two mutations and no symptoms and others will have symptoms without a clear sweat test number or two mutations. I don't have his report in front of me, so I can't tell you the details of what he explained to me. He said that my daughter may/quite probably does have a second mutation. For now, it is being classified as something like CRMA -- I just don't remember the initials. All I remember is Cystic fibrosis Related... can't remember the rest.

He said that they are discovering a number of people who have made it into their 30's or 40's or even 60's without ever being diagnosed, yet they have two (undiscoverd) mutations. They often have a history of asthma or digestive problems, but no one ever suspected CF. Some had no symptoms of any kind, but were tested after their child's diagnosis and discovered that they had two mutations.

I'm not trying to suggest that you have CF, but it seems likely that your son's condition is related to CF, even if it is not in the classic form. Nothing else made any sense in my daughter's case... She has PI and every other explanation for that was ruled out; she had some mild asthma; she has sinus swelling and constant nasal drip (we see the ENT specialist next week). I also felt like I was being a "lunatic" as you describe to keep pressing on this -- but I just want to know what to expect, what to be on the lookout for. She clears her throat all the time, but I always thought it was just an anxiety thing. I was a little surprised to find that her sinuses were completely swollen and she had a lot of mucus running down the back of her throat. So now that I have a diagnosis of sorts, I'll be much more proactive about things that I never knew to be concerned about before.

So, no, I don't think you are a "lunatic" to see the signs and want to know if it's more than just being a skinny kid. That's all I had to go on too... It seems strange, but I feel better knowing something, even if it is CF, than the constant wondering just what could be going on with her! Because she has what she has -- the diagnosis doesn't change her health. It just gives me the knowledge I need to help her...

stringbean · Oct 13, 2009

My daughter is eight and she is also extremely thin. She is also 38 pounds and her BMI is "under the bottom 1%". Last February, she was diagnosed with PI. She had borderline sweat tests and the genetic testing found one mutation. We were sent to a pulmonologist who said that she does not have CF, but couldn't/wouldn't explain how my daughter could be PI. When I tried to ask that question, I was told to get a second opinion.

A couple of weeks ago, we met with the head of the CF clinic and he explained that they are still discovering a lot about this disease. Years ago, there was only the classic symptoms, but they now realize that that definition just doesn't fit everyone. Some people have two mutations and no symptoms and others will have symptoms without a clear sweat test number or two mutations. I don't have his report in front of me, so I can't tell you the details of what he explained to me. He said that my daughter may/quite probably does have a second mutation. For now, it is being classified as something like CRMA -- I just don't remember the initials. All I remember is Cystic fibrosis Related... can't remember the rest.

He said that they are discovering a number of people who have made it into their 30's or 40's or even 60's without ever being diagnosed, yet they have two (undiscoverd) mutations. They often have a history of asthma or digestive problems, but no one ever suspected CF. Some had no symptoms of any kind, but were tested after their child's diagnosis and discovered that they had two mutations.

I'm not trying to suggest that you have CF, but it seems likely that your son's condition is related to CF, even if it is not in the classic form. Nothing else made any sense in my daughter's case... She has PI and every other explanation for that was ruled out; she had some mild asthma; she has sinus swelling and constant nasal drip (we see the ENT specialist next week). I also felt like I was being a "lunatic" as you describe to keep pressing on this -- but I just want to know what to expect, what to be on the lookout for. She clears her throat all the time, but I always thought it was just an anxiety thing. I was a little surprised to find that her sinuses were completely swollen and she had a lot of mucus running down the back of her throat. So now that I have a diagnosis of sorts, I'll be much more proactive about things that I never knew to be concerned about before.

So, no, I don't think you are a "lunatic" to see the signs and want to know if it's more than just being a skinny kid. That's all I had to go on too... It seems strange, but I feel better knowing something, even if it is CF, than the constant wondering just what could be going on with her! Because she has what she has -- the diagnosis doesn't change her health. It just gives me the knowledge I need to help her...

stringbean · Oct 13, 2009

My daughter is eight and she is also extremely thin. She is also 38 pounds and her BMI is "under the bottom 1%". Last February, she was diagnosed with PI. She had borderline sweat tests and the genetic testing found one mutation. We were sent to a pulmonologist who said that she does not have CF, but couldn't/wouldn't explain how my daughter could be PI. When I tried to ask that question, I was told to get a second opinion.

A couple of weeks ago, we met with the head of the CF clinic and he explained that they are still discovering a lot about this disease. Years ago, there was only the classic symptoms, but they now realize that that definition just doesn't fit everyone. Some people have two mutations and no symptoms and others will have symptoms without a clear sweat test number or two mutations. I don't have his report in front of me, so I can't tell you the details of what he explained to me. He said that my daughter may/quite probably does have a second mutation. For now, it is being classified as something like CRMA -- I just don't remember the initials. All I remember is Cystic fibrosis Related... can't remember the rest.

He said that they are discovering a number of people who have made it into their 30's or 40's or even 60's without ever being diagnosed, yet they have two (undiscoverd) mutations. They often have a history of asthma or digestive problems, but no one ever suspected CF. Some had no symptoms of any kind, but were tested after their child's diagnosis and discovered that they had two mutations.

I'm not trying to suggest that you have CF, but it seems likely that your son's condition is related to CF, even if it is not in the classic form. Nothing else made any sense in my daughter's case... She has PI and every other explanation for that was ruled out; she had some mild asthma; she has sinus swelling and constant nasal drip (we see the ENT specialist next week). I also felt like I was being a "lunatic" as you describe to keep pressing on this -- but I just want to know what to expect, what to be on the lookout for. She clears her throat all the time, but I always thought it was just an anxiety thing. I was a little surprised to find that her sinuses were completely swollen and she had a lot of mucus running down the back of her throat. So now that I have a diagnosis of sorts, I'll be much more proactive about things that I never knew to be concerned about before.

So, no, I don't think you are a "lunatic" to see the signs and want to know if it's more than just being a skinny kid. That's all I had to go on too... It seems strange, but I feel better knowing something, even if it is CF, than the constant wondering just what could be going on with her! Because she has what she has -- the diagnosis doesn't change her health. It just gives me the knowledge I need to help her...

stringbean · Oct 13, 2009

My daughter is eight and she is also extremely thin. She is also 38 pounds and her BMI is "under the bottom 1%". Last February, she was diagnosed with PI. She had borderline sweat tests and the genetic testing found one mutation. We were sent to a pulmonologist who said that she does not have CF, but couldn't/wouldn't explain how my daughter could be PI. When I tried to ask that question, I was told to get a second opinion.
 
 A couple of weeks ago, we met with the head of the CF clinic and he explained that they are still discovering a lot about this disease. Years ago, there was only the classic symptoms, but they now realize that that definition just doesn't fit everyone. Some people have two mutations and no symptoms and others will have symptoms without a clear sweat test number or two mutations. I don't have his report in front of me, so I can't tell you the details of what he explained to me. He said that my daughter may/quite probably does have a second mutation. For now, it is being classified as something like CRMA -- I just don't remember the initials. All I remember is Cystic fibrosis Related... can't remember the rest.
 
 He said that they are discovering a number of people who have made it into their 30's or 40's or even 60's without ever being diagnosed, yet they have two (undiscoverd) mutations. They often have a history of asthma or digestive problems, but no one ever suspected CF. Some had no symptoms of any kind, but were tested after their child's diagnosis and discovered that they had two mutations.
 
 I'm not trying to suggest that you have CF, but it seems likely that your son's condition is related to CF, even if it is not in the classic form. Nothing else made any sense in my daughter's case... She has PI and every other explanation for that was ruled out; she had some mild asthma; she has sinus swelling and constant nasal drip (we see the ENT specialist next week). I also felt like I was being a "lunatic" as you describe to keep pressing on this -- but I just want to know what to expect, what to be on the lookout for. She clears her throat all the time, but I always thought it was just an anxiety thing. I was a little surprised to find that her sinuses were completely swollen and she had a lot of mucus running down the back of her throat. So now that I have a diagnosis of sorts, I'll be much more proactive about things that I never knew to be concerned about before.
 
 So, no, I don't think you are a "lunatic" to see the signs and want to know if it's more than just being a skinny kid. That's all I had to go on too... It seems strange, but I feel better knowing something, even if it is CF, than the constant wondering just what could be going on with her! Because she has what she has -- the diagnosis doesn't change her health. It just gives me the knowledge I need to help her...

ktsmom · Oct 13, 2009

I certainly do not think you are a lunatic. My non-CFer tested negative for deltaF508 but I still wonder sometimes (and given the genetics in our case, I am being a complete and total freak). When you've been slammed so hard by something, you are never the same.

So I think it is only natural for you to question further, and I hope you get to the bottom of this. I love your ped for wanting to find answers and even suggesting a sweat test. I hope you get support and respect from your CF Center. You definitely deserve it.

ktsmom · Oct 13, 2009

I certainly do not think you are a lunatic. My non-CFer tested negative for deltaF508 but I still wonder sometimes (and given the genetics in our case, I am being a complete and total freak). When you've been slammed so hard by something, you are never the same.

So I think it is only natural for you to question further, and I hope you get to the bottom of this. I love your ped for wanting to find answers and even suggesting a sweat test. I hope you get support and respect from your CF Center. You definitely deserve it.

ktsmom · Oct 13, 2009

I certainly do not think you are a lunatic. My non-CFer tested negative for deltaF508 but I still wonder sometimes (and given the genetics in our case, I am being a complete and total freak). When you've been slammed so hard by something, you are never the same.

So I think it is only natural for you to question further, and I hope you get to the bottom of this. I love your ped for wanting to find answers and even suggesting a sweat test. I hope you get support and respect from your CF Center. You definitely deserve it.

ktsmom · Oct 13, 2009

I certainly do not think you are a lunatic. My non-CFer tested negative for deltaF508 but I still wonder sometimes (and given the genetics in our case, I am being a complete and total freak). When you've been slammed so hard by something, you are never the same.

So I think it is only natural for you to question further, and I hope you get to the bottom of this. I love your ped for wanting to find answers and even suggesting a sweat test. I hope you get support and respect from your CF Center. You definitely deserve it.

ktsmom · Oct 13, 2009

I certainly do not think you are a lunatic. My non-CFer tested negative for deltaF508 but I still wonder sometimes (and given the genetics in our case, I am being a complete and total freak). When you've been slammed so hard by something, you are never the same.
 
 So I think it is only natural for you to question further, and I hope you get to the bottom of this. I love your ped for wanting to find answers and even suggesting a sweat test. I hope you get support and respect from your CF Center. You definitely deserve it.

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