in reference to urgent message to worried grandma and candi81

[katzyloo]

hi everyone i need some thoughts and advice.
refer to 'urgent message to worriedgrandma and canid81'.
what do people feel on the issue of children testing positive for cf (positive sweat test, newborn screening, and two genes found) however regarding this child as cf free. This assumption was made after making an original diagnosis of atypical cf and is now being retracted. now iam wondering whether treatment is necessary (physio, sodium for 'clinically' showing low salt levels, and treating colds aggressively with antibiotics, meaning no room for naturally developing and strengthen immunity). there is also a belief my son will also be infertile.

help please.
katie

 

[katzyloo]

hi everyone i need some thoughts and advice.
refer to 'urgent message to worriedgrandma and canid81'.
what do people feel on the issue of children testing positive for cf (positive sweat test, newborn screening, and two genes found) however regarding this child as cf free. This assumption was made after making an original diagnosis of atypical cf and is now being retracted. now iam wondering whether treatment is necessary (physio, sodium for 'clinically' showing low salt levels, and treating colds aggressively with antibiotics, meaning no room for naturally developing and strengthen immunity). there is also a belief my son will also be infertile.

help please.
katie

 

[katzyloo]

hi everyone i need some thoughts and advice.
<br />refer to 'urgent message to worriedgrandma and canid81'.
<br />what do people feel on the issue of children testing positive for cf (positive sweat test, newborn screening, and two genes found) however regarding this child as cf free. This assumption was made after making an original diagnosis of atypical cf and is now being retracted. now iam wondering whether treatment is necessary (physio, sodium for 'clinically' showing low salt levels, and treating colds aggressively with antibiotics, meaning no room for naturally developing and strengthen immunity). there is also a belief my son will also be infertile.
<br />
<br />help please.
<br />katie

 

[Mommafirst]

how do I feel? I feel that giving a diagnosis, and taking it away -- despite all diagnostic criteria being met -- is a dangerous game. Diagnostic criteria is having any two of the following: positive sweat test, two known CF mutations, pancreatic or lung symptoms.. Since CF symptoms can, and do, develop overtime, it is possible to have CF and no symptoms as a baby. To take away possible preventative care is DANGEROUS. There are many adults here with mutations that are in question, that didn't develop symptoms until their 20's or 30's. But delayed symptom onset is not the same thing as a clear med record.

 

[Mommafirst]

how do I feel? I feel that giving a diagnosis, and taking it away -- despite all diagnostic criteria being met -- is a dangerous game. Diagnostic criteria is having any two of the following: positive sweat test, two known CF mutations, pancreatic or lung symptoms.. Since CF symptoms can, and do, develop overtime, it is possible to have CF and no symptoms as a baby. To take away possible preventative care is DANGEROUS. There are many adults here with mutations that are in question, that didn't develop symptoms until their 20's or 30's. But delayed symptom onset is not the same thing as a clear med record.

 

[Mommafirst]

how do I feel? I feel that giving a diagnosis, and taking it away -- despite all diagnostic criteria being met -- is a dangerous game. Diagnostic criteria is having any two of the following: positive sweat test, two known CF mutations, pancreatic or lung symptoms.. Since CF symptoms can, and do, develop overtime, it is possible to have CF and no symptoms as a baby. To take away possible preventative care is DANGEROUS. There are many adults here with mutations that are in question, that didn't develop symptoms until their 20's or 30's. But delayed symptom onset is not the same thing as a clear med record.

 

[katzyloo]

i completely agree which is why i cant understand why our consultant has withdrawn the diagnosis. im trying to contact two families in the us with children with the same mutations so my consultant can contact their specialist as these children receive preventative measures and are classed as atypical. my only question to my consultant is why withdraw diagnosis but still encourage preventative measures, this is where my confusion is. as surely if a person doesnt hv cf, why carry out cf related treatments.
thanks for your comment.
katie

 

[katzyloo]

i completely agree which is why i cant understand why our consultant has withdrawn the diagnosis. im trying to contact two families in the us with children with the same mutations so my consultant can contact their specialist as these children receive preventative measures and are classed as atypical. my only question to my consultant is why withdraw diagnosis but still encourage preventative measures, this is where my confusion is. as surely if a person doesnt hv cf, why carry out cf related treatments.
thanks for your comment.
katie

 

[katzyloo]

i completely agree which is why i cant understand why our consultant has withdrawn the diagnosis. im trying to contact two families in the us with children with the same mutations so my consultant can contact their specialist as these children receive preventative measures and are classed as atypical. my only question to my consultant is why withdraw diagnosis but still encourage preventative measures, this is where my confusion is. as surely if a person doesnt hv cf, why carry out cf related treatments.
<br />thanks for your comment.
<br />katie

 

[hmw]

Why was the dx taken away despite all criteria being met...? Was it simply because there are no significant symptoms of 'illness' apparent during infancy or early years of life?

My daughter was a very healthy infant and didn't start showing significant digestive symptoms until she was about 3 (when she stopped gaining weight. Prior to that the only digestive involvement she had was reflux.) She never had more than 'typical' colds, etc before age 3ish, either. CF was never, EVER on our radar until she was dx'ed at age 7... and by no means could anyone mistake her for being an 'atypical' case now despite being an extremely healthy, chubby baby and toddler. She has a g-tube for supplemental feeds due to being unable to gain enough weight, xrays showing early signs of cf-related damage and gets sick on a level far surpassing her brothers.

Retracting a dx due to good health during the early years or being unsure of the clinical outcome of certain mutations is a dangerous game where the children stand to lose in a big way and it opens a big window for insurance companies to deny, deny, deny necessary treatment over time who truly need it. I just hate hearing about cases like this!!! <img src="i/expressions/face-icon-small-frown.gif" border="0">

 

[hmw]

Why was the dx taken away despite all criteria being met...? Was it simply because there are no significant symptoms of 'illness' apparent during infancy or early years of life?

My daughter was a very healthy infant and didn't start showing significant digestive symptoms until she was about 3 (when she stopped gaining weight. Prior to that the only digestive involvement she had was reflux.) She never had more than 'typical' colds, etc before age 3ish, either. CF was never, EVER on our radar until she was dx'ed at age 7... and by no means could anyone mistake her for being an 'atypical' case now despite being an extremely healthy, chubby baby and toddler. She has a g-tube for supplemental feeds due to being unable to gain enough weight, xrays showing early signs of cf-related damage and gets sick on a level far surpassing her brothers.

Retracting a dx due to good health during the early years or being unsure of the clinical outcome of certain mutations is a dangerous game where the children stand to lose in a big way and it opens a big window for insurance companies to deny, deny, deny necessary treatment over time who truly need it. I just hate hearing about cases like this!!! <img src="i/expressions/face-icon-small-frown.gif" border="0">

 

[hmw]

Why was the dx taken away despite all criteria being met...? Was it simply because there are no significant symptoms of 'illness' apparent during infancy or early years of life?
<br />
<br />My daughter was a very healthy infant and didn't start showing significant digestive symptoms until she was about 3 (when she stopped gaining weight. Prior to that the only digestive involvement she had was reflux.) She never had more than 'typical' colds, etc before age 3ish, either. CF was never, EVER on our radar until she was dx'ed at age 7... and by no means could anyone mistake her for being an 'atypical' case now despite being an extremely healthy, chubby baby and toddler. She has a g-tube for supplemental feeds due to being unable to gain enough weight, xrays showing early signs of cf-related damage and gets sick on a level far surpassing her brothers.
<br />
<br />Retracting a dx due to good health during the early years or being unsure of the clinical outcome of certain mutations is a dangerous game where the children stand to lose in a big way and it opens a big window for insurance companies to deny, deny, deny necessary treatment over time who truly need it. I just hate hearing about cases like this!!! <img src="i/expressions/face-icon-small-frown.gif" border="0">

 

[Ratatosk]

I agree it's very dangerous. DS primarily had digestive issues. If he hadn't been born with a blockage, who's to say he would have been diagnosed right away.

There are so many stories on this site and others about people who were diagnosed later on in life -- misdiagnosed with other ailments...

Does your son have any symptoms currently -- respiratory or digestive?

 

[Ratatosk]

I agree it's very dangerous. DS primarily had digestive issues. If he hadn't been born with a blockage, who's to say he would have been diagnosed right away.

There are so many stories on this site and others about people who were diagnosed later on in life -- misdiagnosed with other ailments...

Does your son have any symptoms currently -- respiratory or digestive?

 

[Ratatosk]

I agree it's very dangerous. DS primarily had digestive issues. If he hadn't been born with a blockage, who's to say he would have been diagnosed right away.
<br />
<br />There are so many stories on this site and others about people who were diagnosed later on in life -- misdiagnosed with other ailments...
<br />
<br />Does your son have any symptoms currently -- respiratory or digestive?

 

[katzyloo]

no he has no clinical symptoms specifically related to cf. he has low salt levels tested from urine samples and receives sodium. he has reflux, but the consultant believes he would have this without the two gene mutations present as he has had no chest infection to date, and he says reflux directly related to cf is caused by lung problems which they dont believe my son has or will experience in childhood. i understand that perhaps as he isnt presenting the classical symptoms it may be considered wrong classing him as cf, and how that might anger those who have direct experience of cf.
he is pancreatic sufficient, and has only had one cold to date which he was immediately put on antibiotics to treat.
however he is 6 months old and i dont feel withdrawing the diagnosis is appropriate after so little background to base this on. plus the two children i have heard of with the same mutations are 1 year plus and are still receiving cf treatment.
iam very confused by the whole situation and worried that i stop treatment and he develops issues later.
currently iam waiting for a response from the hospital and i have questioned their decision and seek further info from those who receive treatment for the same gene mutation as their care plan is far different from what we are receiving and being told.

 

[katzyloo]

no he has no clinical symptoms specifically related to cf. he has low salt levels tested from urine samples and receives sodium. he has reflux, but the consultant believes he would have this without the two gene mutations present as he has had no chest infection to date, and he says reflux directly related to cf is caused by lung problems which they dont believe my son has or will experience in childhood. i understand that perhaps as he isnt presenting the classical symptoms it may be considered wrong classing him as cf, and how that might anger those who have direct experience of cf.
he is pancreatic sufficient, and has only had one cold to date which he was immediately put on antibiotics to treat.
however he is 6 months old and i dont feel withdrawing the diagnosis is appropriate after so little background to base this on. plus the two children i have heard of with the same mutations are 1 year plus and are still receiving cf treatment.
iam very confused by the whole situation and worried that i stop treatment and he develops issues later.
currently iam waiting for a response from the hospital and i have questioned their decision and seek further info from those who receive treatment for the same gene mutation as their care plan is far different from what we are receiving and being told.

 

[katzyloo]

no he has no clinical symptoms specifically related to cf. he has low salt levels tested from urine samples and receives sodium. he has reflux, but the consultant believes he would have this without the two gene mutations present as he has had no chest infection to date, and he says reflux directly related to cf is caused by lung problems which they dont believe my son has or will experience in childhood. i understand that perhaps as he isnt presenting the classical symptoms it may be considered wrong classing him as cf, and how that might anger those who have direct experience of cf.
<br />he is pancreatic sufficient, and has only had one cold to date which he was immediately put on antibiotics to treat.
<br />however he is 6 months old and i dont feel withdrawing the diagnosis is appropriate after so little background to base this on. plus the two children i have heard of with the same mutations are 1 year plus and are still receiving cf treatment.
<br />iam very confused by the whole situation and worried that i stop treatment and he develops issues later.
<br />currently iam waiting for a response from the hospital and i have questioned their decision and seek further info from those who receive treatment for the same gene mutation as their care plan is far different from what we are receiving and being told.

 

[Ratatosk]

Being that he's only 6 months old, I would be concerned as well. Could you refresh our memories -- what are his mutations again?

 

[Ratatosk]

Being that he's only 6 months old, I would be concerned as well. Could you refresh our memories -- what are his mutations again?