A little hope

[MaksNana]

Hello and wellcome to the site.
I don't want to scare you , but I believe you should contact Steven Keiles from Ambrys Genetics. You will find him under forums/familys.
It's not abnormal to have sweat test that may come back low or not sweat at all. There can be many reasons for that , then you may get high sweat test.

Here are my concerns for your little one. First of all you know you have done enough tested to know your little one carry's 2 CF mutations that which you carry one and your husband carrys one .And your little one has them both. You also stated that your gene is rare. Which I must say, if it's rare, then how can anyone yet determine what the future of CF could be for him.

I myself have never heard of a "benigned" CF mutation. Maybe he is asymptomatic at this time. And also, a CF gene is a "DEFECTED GENE". I have a hard time understanding why someone would tell you that he is only a carrier, with 2 defected genes !

Sometimes a child will be high on a growth chart and around 18months to 2yrs of age drop down so fast you don't know what happened. And this is very common.

I wish you the best ,but I really pray that the ball is not dropped and you do investigate more for him. The earlier treatment starts the better he will be.

One thing you must know that this disease (that I hate) is such a COMPLEX DISEASE ! Even doctors and genetic doctors are still learning all the time. We are here for you always, if you have questions. And with CF, the questions and changes never end.

All my prayers to you and your precious one,,,,,,,,,,,Karla <img src="i/expressions/heart.gif" border="0">

 

[MaksNana]

Hello and wellcome to the site.
I don't want to scare you , but I believe you should contact Steven Keiles from Ambrys Genetics. You will find him under forums/familys.
It's not abnormal to have sweat test that may come back low or not sweat at all. There can be many reasons for that , then you may get high sweat test.

Here are my concerns for your little one. First of all you know you have done enough tested to know your little one carry's 2 CF mutations that which you carry one and your husband carrys one .And your little one has them both. You also stated that your gene is rare. Which I must say, if it's rare, then how can anyone yet determine what the future of CF could be for him.

I myself have never heard of a "benigned" CF mutation. Maybe he is asymptomatic at this time. And also, a CF gene is a "DEFECTED GENE". I have a hard time understanding why someone would tell you that he is only a carrier, with 2 defected genes !

Sometimes a child will be high on a growth chart and around 18months to 2yrs of age drop down so fast you don't know what happened. And this is very common.

I wish you the best ,but I really pray that the ball is not dropped and you do investigate more for him. The earlier treatment starts the better he will be.

One thing you must know that this disease (that I hate) is such a COMPLEX DISEASE ! Even doctors and genetic doctors are still learning all the time. We are here for you always, if you have questions. And with CF, the questions and changes never end.

All my prayers to you and your precious one,,,,,,,,,,,Karla <img src="i/expressions/heart.gif" border="0">

 

[MaksNana]

Hello and wellcome to the site.
I don't want to scare you , but I believe you should contact Steven Keiles from Ambrys Genetics. You will find him under forums/familys.
It's not abnormal to have sweat test that may come back low or not sweat at all. There can be many reasons for that , then you may get high sweat test.

Here are my concerns for your little one. First of all you know you have done enough tested to know your little one carry's 2 CF mutations that which you carry one and your husband carrys one .And your little one has them both. You also stated that your gene is rare. Which I must say, if it's rare, then how can anyone yet determine what the future of CF could be for him.

I myself have never heard of a "benigned" CF mutation. Maybe he is asymptomatic at this time. And also, a CF gene is a "DEFECTED GENE". I have a hard time understanding why someone would tell you that he is only a carrier, with 2 defected genes !

Sometimes a child will be high on a growth chart and around 18months to 2yrs of age drop down so fast you don't know what happened. And this is very common.

I wish you the best ,but I really pray that the ball is not dropped and you do investigate more for him. The earlier treatment starts the better he will be.

One thing you must know that this disease (that I hate) is such a COMPLEX DISEASE ! Even doctors and genetic doctors are still learning all the time. We are here for you always, if you have questions. And with CF, the questions and changes never end.

All my prayers to you and your precious one,,,,,,,,,,,Karla <img src="i/expressions/heart.gif" border="0">

 

[MaksNana]

Hello and wellcome to the site.
I don't want to scare you , but I believe you should contact Steven Keiles from Ambrys Genetics. You will find him under forums/familys.
It's not abnormal to have sweat test that may come back low or not sweat at all. There can be many reasons for that , then you may get high sweat test.

Here are my concerns for your little one. First of all you know you have done enough tested to know your little one carry's 2 CF mutations that which you carry one and your husband carrys one .And your little one has them both. You also stated that your gene is rare. Which I must say, if it's rare, then how can anyone yet determine what the future of CF could be for him.

I myself have never heard of a "benigned" CF mutation. Maybe he is asymptomatic at this time. And also, a CF gene is a "DEFECTED GENE". I have a hard time understanding why someone would tell you that he is only a carrier, with 2 defected genes !

Sometimes a child will be high on a growth chart and around 18months to 2yrs of age drop down so fast you don't know what happened. And this is very common.

I wish you the best ,but I really pray that the ball is not dropped and you do investigate more for him. The earlier treatment starts the better he will be.

One thing you must know that this disease (that I hate) is such a COMPLEX DISEASE ! Even doctors and genetic doctors are still learning all the time. We are here for you always, if you have questions. And with CF, the questions and changes never end.

All my prayers to you and your precious one,,,,,,,,,,,Karla <img src="i/expressions/heart.gif" border="0">

 

[MaksNana]

Hello and wellcome to the site.
<br /> I don't want to scare you , but I believe you should contact Steven Keiles from Ambrys Genetics. You will find him under forums/familys.
<br />It's not abnormal to have sweat test that may come back low or not sweat at all. There can be many reasons for that , then you may get high sweat test.
<br />
<br />Here are my concerns for your little one. First of all you know you have done enough tested to know your little one carry's 2 CF mutations that which you carry one and your husband carrys one .And your little one has them both. You also stated that your gene is rare. Which I must say, if it's rare, then how can anyone yet determine what the future of CF could be for him.
<br />
<br />I myself have never heard of a "benigned" CF mutation. Maybe he is asymptomatic at this time. And also, a CF gene is a "DEFECTED GENE". I have a hard time understanding why someone would tell you that he is only a carrier, with 2 defected genes !
<br />
<br />Sometimes a child will be high on a growth chart and around 18months to 2yrs of age drop down so fast you don't know what happened. And this is very common.
<br />
<br />I wish you the best ,but I really pray that the ball is not dropped and you do investigate more for him. The earlier treatment starts the better he will be.
<br />
<br />One thing you must know that this disease (that I hate) is such a COMPLEX DISEASE ! Even doctors and genetic doctors are still learning all the time. We are here for you always, if you have questions. And with CF, the questions and changes never end.
<br />
<br />All my prayers to you and your precious one,,,,,,,,,,,Karla <img src="i/expressions/heart.gif" border="0">

 

[just1more]

Just to follow on Karla with some facts on CF:

1) Two mutations = CF, end of story. Any genetic counselor that says otherwise needs their license revoked as this is basic genetics.

2) There is no such thing as a 'benign' CF mutation. There are mutations that are rare (over 1500 of them) that can cause varying symptoms; some of which don't cause the normal CF progression.

3) CF is progressive. It is fully reasonable to have a 'healthy' infant/toddler and still have issues down the road. No two cases are ever the same, even between siblings with the same mutations.

That said, don't give up hope, there are amazing things that can be done to improve the length & quality of life of someone with CF. The biggest step is you need to see an accredited CF center ASAP. They will be able to better tell you what they expect, and also help you be proactive.

Sorry to rain on your parade, but the last thing I would want for anyone is false information leading to a failure to do all that can be done.

Please feel free to ask more questions if you have them.

 

[just1more]

Just to follow on Karla with some facts on CF:

1) Two mutations = CF, end of story. Any genetic counselor that says otherwise needs their license revoked as this is basic genetics.

2) There is no such thing as a 'benign' CF mutation. There are mutations that are rare (over 1500 of them) that can cause varying symptoms; some of which don't cause the normal CF progression.

3) CF is progressive. It is fully reasonable to have a 'healthy' infant/toddler and still have issues down the road. No two cases are ever the same, even between siblings with the same mutations.

That said, don't give up hope, there are amazing things that can be done to improve the length & quality of life of someone with CF. The biggest step is you need to see an accredited CF center ASAP. They will be able to better tell you what they expect, and also help you be proactive.

Sorry to rain on your parade, but the last thing I would want for anyone is false information leading to a failure to do all that can be done.

Please feel free to ask more questions if you have them.

 

[just1more]

Just to follow on Karla with some facts on CF:

1) Two mutations = CF, end of story. Any genetic counselor that says otherwise needs their license revoked as this is basic genetics.

2) There is no such thing as a 'benign' CF mutation. There are mutations that are rare (over 1500 of them) that can cause varying symptoms; some of which don't cause the normal CF progression.

3) CF is progressive. It is fully reasonable to have a 'healthy' infant/toddler and still have issues down the road. No two cases are ever the same, even between siblings with the same mutations.

That said, don't give up hope, there are amazing things that can be done to improve the length & quality of life of someone with CF. The biggest step is you need to see an accredited CF center ASAP. They will be able to better tell you what they expect, and also help you be proactive.

Sorry to rain on your parade, but the last thing I would want for anyone is false information leading to a failure to do all that can be done.

Please feel free to ask more questions if you have them.

 

[just1more]

Just to follow on Karla with some facts on CF:

1) Two mutations = CF, end of story. Any genetic counselor that says otherwise needs their license revoked as this is basic genetics.

2) There is no such thing as a 'benign' CF mutation. There are mutations that are rare (over 1500 of them) that can cause varying symptoms; some of which don't cause the normal CF progression.

3) CF is progressive. It is fully reasonable to have a 'healthy' infant/toddler and still have issues down the road. No two cases are ever the same, even between siblings with the same mutations.

That said, don't give up hope, there are amazing things that can be done to improve the length & quality of life of someone with CF. The biggest step is you need to see an accredited CF center ASAP. They will be able to better tell you what they expect, and also help you be proactive.

Sorry to rain on your parade, but the last thing I would want for anyone is false information leading to a failure to do all that can be done.

Please feel free to ask more questions if you have them.

 

[just1more]

Just to follow on Karla with some facts on CF:
<br />
<br />1) Two mutations = CF, end of story. Any genetic counselor that says otherwise needs their license revoked as this is basic genetics.
<br />
<br />2) There is no such thing as a 'benign' CF mutation. There are mutations that are rare (over 1500 of them) that can cause varying symptoms; some of which don't cause the normal CF progression.
<br />
<br />3) CF is progressive. It is fully reasonable to have a 'healthy' infant/toddler and still have issues down the road. No two cases are ever the same, even between siblings with the same mutations.
<br />
<br />That said, don't give up hope, there are amazing things that can be done to improve the length & quality of life of someone with CF. The biggest step is you need to see an accredited CF center ASAP. They will be able to better tell you what they expect, and also help you be proactive.
<br />
<br />Sorry to rain on your parade, but the last thing I would want for anyone is false information leading to a failure to do all that can be done.
<br />
<br />Please feel free to ask more questions if you have them.

 

[petnurse]

I agree. Please try and research this some on your own too. I have also never heard of benign mutations. In facr F508C is known to be linked with CF males lacking the vas deferens (ie infertility), which we all know goes hand in hand with CF. I would love to think you have been told correctly, but I want you to know my son who is 7 months old has no symptoms and is a DD508 (they warned us these bad mutations would make him sick). We still go through all the motions of CF care to prevent the lung damage that we know is down the road. Good luck to you! PM me if you would like.

 

[petnurse]

I agree. Please try and research this some on your own too. I have also never heard of benign mutations. In facr F508C is known to be linked with CF males lacking the vas deferens (ie infertility), which we all know goes hand in hand with CF. I would love to think you have been told correctly, but I want you to know my son who is 7 months old has no symptoms and is a DD508 (they warned us these bad mutations would make him sick). We still go through all the motions of CF care to prevent the lung damage that we know is down the road. Good luck to you! PM me if you would like.

 

[petnurse]

I agree. Please try and research this some on your own too. I have also never heard of benign mutations. In facr F508C is known to be linked with CF males lacking the vas deferens (ie infertility), which we all know goes hand in hand with CF. I would love to think you have been told correctly, but I want you to know my son who is 7 months old has no symptoms and is a DD508 (they warned us these bad mutations would make him sick). We still go through all the motions of CF care to prevent the lung damage that we know is down the road. Good luck to you! PM me if you would like.

 

[petnurse]

I agree. Please try and research this some on your own too. I have also never heard of benign mutations. In facr F508C is known to be linked with CF males lacking the vas deferens (ie infertility), which we all know goes hand in hand with CF. I would love to think you have been told correctly, but I want you to know my son who is 7 months old has no symptoms and is a DD508 (they warned us these bad mutations would make him sick). We still go through all the motions of CF care to prevent the lung damage that we know is down the road. Good luck to you! PM me if you would like.

 

[petnurse]

I agree. Please try and research this some on your own too. I have also never heard of benign mutations. In facr F508C is known to be linked with CF males lacking the vas deferens (ie infertility), which we all know goes hand in hand with CF. I would love to think you have been told correctly, but I want you to know my son who is 7 months old has no symptoms and is a DD508 (they warned us these bad mutations would make him sick). We still go through all the motions of CF care to prevent the lung damage that we know is down the road. Good luck to you! PM me if you would like.

 

[hmw]

Almost all males with CF (more than 95% I believe) are infertile, so CBAVD is caused by a wide variety of mutations. We are hoping that determining this will help determine whether our son has CF or is just a carrier, as a matter of fact, due to other questionable factors.

I have heard as well of a couple specific mutations being associated primarily with this symptom, but doctors using absolute terms like 'cannot', 'never', etc in almost any setting in medicine is a red flag...

There are MANY children, for example, that come back positive through genetic testing for two mutations that pass their sweat tests with flying colors and are completely asymptomatic as infants or young children- and go on to develop classic disease symptoms as time goes by, thus proving the genetic diagnosis to be absolutely correct. Some disease-causing mutations are actually known to be associated with borderline (or even normal!) sweat test results. If they have never heard of this, it kind of makes me unsure about the rest of what they are telling you &/or wonder how many other patients with CF they have come across.

An <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682253/">article</a> discussing the mutation combination of DeltaF508 and F508C included this in the abstract:
<div class="FTQUOTE"><begin quote>Compound heterozygosity for DF508 and F508C has
been reported in clinically normal individuals (Kobayashi
et al. 1990; Macek et al. 1992), <b>in patients with
typical CF symptoms (Kerem et al. 1990)</b>, and now, for
the first time, in a case of CBAVD. The basis for this
wide clinical variability is unclear, as is the functional
significance of the F508C mutation.</end quote></div>

<b>I do want to stress that I am very, very happy to hear about the good health of your child and hope it continues.</b> I am absolutely not intending to come across in a discouraging way... many kids/adults with cf enjoy fantastic health for many many years, even many decades. However, I agree with the advice you were given above and urge you to be cautious about accepting at face value this dx. Long term prognosis cannot be determined at his age and I'd want input from CF specialists as well. The best odds for continuing to enjoy the best quality of health will come from getting care from well-informed experts specializing in the care of those with CF.

 

[hmw]

Almost all males with CF (more than 95% I believe) are infertile, so CBAVD is caused by a wide variety of mutations. We are hoping that determining this will help determine whether our son has CF or is just a carrier, as a matter of fact, due to other questionable factors.

I have heard as well of a couple specific mutations being associated primarily with this symptom, but doctors using absolute terms like 'cannot', 'never', etc in almost any setting in medicine is a red flag...

There are MANY children, for example, that come back positive through genetic testing for two mutations that pass their sweat tests with flying colors and are completely asymptomatic as infants or young children- and go on to develop classic disease symptoms as time goes by, thus proving the genetic diagnosis to be absolutely correct. Some disease-causing mutations are actually known to be associated with borderline (or even normal!) sweat test results. If they have never heard of this, it kind of makes me unsure about the rest of what they are telling you &/or wonder how many other patients with CF they have come across.

An <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682253/">article</a> discussing the mutation combination of DeltaF508 and F508C included this in the abstract:
<div class="FTQUOTE"><begin quote>Compound heterozygosity for DF508 and F508C has
been reported in clinically normal individuals (Kobayashi
et al. 1990; Macek et al. 1992), <b>in patients with
typical CF symptoms (Kerem et al. 1990)</b>, and now, for
the first time, in a case of CBAVD. The basis for this
wide clinical variability is unclear, as is the functional
significance of the F508C mutation.</end quote></div>

<b>I do want to stress that I am very, very happy to hear about the good health of your child and hope it continues.</b> I am absolutely not intending to come across in a discouraging way... many kids/adults with cf enjoy fantastic health for many many years, even many decades. However, I agree with the advice you were given above and urge you to be cautious about accepting at face value this dx. Long term prognosis cannot be determined at his age and I'd want input from CF specialists as well. The best odds for continuing to enjoy the best quality of health will come from getting care from well-informed experts specializing in the care of those with CF.

 

[hmw]

Almost all males with CF (more than 95% I believe) are infertile, so CBAVD is caused by a wide variety of mutations. We are hoping that determining this will help determine whether our son has CF or is just a carrier, as a matter of fact, due to other questionable factors.

I have heard as well of a couple specific mutations being associated primarily with this symptom, but doctors using absolute terms like 'cannot', 'never', etc in almost any setting in medicine is a red flag...

There are MANY children, for example, that come back positive through genetic testing for two mutations that pass their sweat tests with flying colors and are completely asymptomatic as infants or young children- and go on to develop classic disease symptoms as time goes by, thus proving the genetic diagnosis to be absolutely correct. Some disease-causing mutations are actually known to be associated with borderline (or even normal!) sweat test results. If they have never heard of this, it kind of makes me unsure about the rest of what they are telling you &/or wonder how many other patients with CF they have come across.

An <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682253/">article</a> discussing the mutation combination of DeltaF508 and F508C included this in the abstract:
<div class="FTQUOTE"><begin quote>Compound heterozygosity for DF508 and F508C has
been reported in clinically normal individuals (Kobayashi
et al. 1990; Macek et al. 1992), <b>in patients with
typical CF symptoms (Kerem et al. 1990)</b>, and now, for
the first time, in a case of CBAVD. The basis for this
wide clinical variability is unclear, as is the functional
significance of the F508C mutation.</end quote></div>

<b>I do want to stress that I am very, very happy to hear about the good health of your child and hope it continues.</b> I am absolutely not intending to come across in a discouraging way... many kids/adults with cf enjoy fantastic health for many many years, even many decades. However, I agree with the advice you were given above and urge you to be cautious about accepting at face value this dx. Long term prognosis cannot be determined at his age and I'd want input from CF specialists as well. The best odds for continuing to enjoy the best quality of health will come from getting care from well-informed experts specializing in the care of those with CF.

 

[hmw]

Almost all males with CF (more than 95% I believe) are infertile, so CBAVD is caused by a wide variety of mutations. We are hoping that determining this will help determine whether our son has CF or is just a carrier, as a matter of fact, due to other questionable factors.

I have heard as well of a couple specific mutations being associated primarily with this symptom, but doctors using absolute terms like 'cannot', 'never', etc in almost any setting in medicine is a red flag...

There are MANY children, for example, that come back positive through genetic testing for two mutations that pass their sweat tests with flying colors and are completely asymptomatic as infants or young children- and go on to develop classic disease symptoms as time goes by, thus proving the genetic diagnosis to be absolutely correct. Some disease-causing mutations are actually known to be associated with borderline (or even normal!) sweat test results. If they have never heard of this, it kind of makes me unsure about the rest of what they are telling you &/or wonder how many other patients with CF they have come across.

An <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682253/">article</a> discussing the mutation combination of DeltaF508 and F508C included this in the abstract:
<div class="FTQUOTE"><begin quote>Compound heterozygosity for DF508 and F508C has
been reported in clinically normal individuals (Kobayashi
et al. 1990; Macek et al. 1992), <b>in patients with
typical CF symptoms (Kerem et al. 1990)</b>, and now, for
the first time, in a case of CBAVD. The basis for this
wide clinical variability is unclear, as is the functional
significance of the F508C mutation.</end quote>

<b>I do want to stress that I am very, very happy to hear about the good health of your child and hope it continues.</b> I am absolutely not intending to come across in a discouraging way... many kids/adults with cf enjoy fantastic health for many many years, even many decades. However, I agree with the advice you were given above and urge you to be cautious about accepting at face value this dx. Long term prognosis cannot be determined at his age and I'd want input from CF specialists as well. The best odds for continuing to enjoy the best quality of health will come from getting care from well-informed experts specializing in the care of those with CF.

 

[hmw]

Almost all males with CF (more than 95% I believe) are infertile, so CBAVD is caused by a wide variety of mutations. We are hoping that determining this will help determine whether our son has CF or is just a carrier, as a matter of fact, due to other questionable factors.
<br />
<br />I have heard as well of a couple specific mutations being associated primarily with this symptom, but doctors using absolute terms like 'cannot', 'never', etc in almost any setting in medicine is a red flag...
<br />
<br />There are MANY children, for example, that come back positive through genetic testing for two mutations that pass their sweat tests with flying colors and are completely asymptomatic as infants or young children- and go on to develop classic disease symptoms as time goes by, thus proving the genetic diagnosis to be absolutely correct. Some disease-causing mutations are actually known to be associated with borderline (or even normal!) sweat test results. If they have never heard of this, it kind of makes me unsure about the rest of what they are telling you &/or wonder how many other patients with CF they have come across.
<br />
<br />An <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682253/">article</a> discussing the mutation combination of DeltaF508 and F508C included this in the abstract:
<br /><div class="FTQUOTE"><begin quote>Compound heterozygosity for DF508 and F508C has
<br />been reported in clinically normal individuals (Kobayashi
<br />et al. 1990; Macek et al. 1992), <b>in patients with
<br />typical CF symptoms (Kerem et al. 1990)</b>, and now, for
<br />the first time, in a case of CBAVD. The basis for this
<br />wide clinical variability is unclear, as is the functional
<br />significance of the F508C mutation.</end quote>
<br />
<br /><b>I do want to stress that I am very, very happy to hear about the good health of your child and hope it continues.</b> I am absolutely not intending to come across in a discouraging way... many kids/adults with cf enjoy fantastic health for many many years, even many decades. However, I agree with the advice you were given above and urge you to be cautious about accepting at face value this dx. Long term prognosis cannot be determined at his age and I'd want input from CF specialists as well. The best odds for continuing to enjoy the best quality of health will come from getting care from well-informed experts specializing in the care of those with CF.