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lilacs · May 27, 2008

My son (8 weeks) needed to be tested for CF (I am a carrier)and I finally received his results. They said that he had a "severe mutation" of whatever the gene was and that "he is at least a carrier". When I saw the report for my test I do not remember that wording used. It only said that I was a carrier.

Should I be concerned that it said a "severe mutation"? It probably would not be on my mind so much but he had to be hospitalized for something unrelated (at least I think that it was unrelated)and they wanted to "rule out" a positive result for CF. The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.

The doctor did not seem too worried and has not said that he will need additional testing right now. Should I push for it? Or would it be safe to wait and see if he is sick alot.

lilacs · May 27, 2008

My son (8 weeks) needed to be tested for CF (I am a carrier)and I finally received his results. They said that he had a "severe mutation" of whatever the gene was and that "he is at least a carrier". When I saw the report for my test I do not remember that wording used. It only said that I was a carrier.

Should I be concerned that it said a "severe mutation"? It probably would not be on my mind so much but he had to be hospitalized for something unrelated (at least I think that it was unrelated)and they wanted to "rule out" a positive result for CF. The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.

The doctor did not seem too worried and has not said that he will need additional testing right now. Should I push for it? Or would it be safe to wait and see if he is sick alot.

lilacs · May 27, 2008

My son (8 weeks) needed to be tested for CF (I am a carrier)and I finally received his results. They said that he had a "severe mutation" of whatever the gene was and that "he is at least a carrier". When I saw the report for my test I do not remember that wording used. It only said that I was a carrier.

Should I be concerned that it said a "severe mutation"? It probably would not be on my mind so much but he had to be hospitalized for something unrelated (at least I think that it was unrelated)and they wanted to "rule out" a positive result for CF. The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.

The doctor did not seem too worried and has not said that he will need additional testing right now. Should I push for it? Or would it be safe to wait and see if he is sick alot.

lilacs · May 27, 2008

My son (8 weeks) needed to be tested for CF (I am a carrier)and I finally received his results. They said that he had a "severe mutation" of whatever the gene was and that "he is at least a carrier". When I saw the report for my test I do not remember that wording used. It only said that I was a carrier.

Should I be concerned that it said a "severe mutation"? It probably would not be on my mind so much but he had to be hospitalized for something unrelated (at least I think that it was unrelated)and they wanted to "rule out" a positive result for CF. The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.

The doctor did not seem too worried and has not said that he will need additional testing right now. Should I push for it? Or would it be safe to wait and see if he is sick alot.

lilacs · May 27, 2008

My son (8 weeks) needed to be tested for CF (I am a carrier)and I finally received his results. They said that he had a "severe mutation" of whatever the gene was and that "he is at least a carrier". When I saw the report for my test I do not remember that wording used. It only said that I was a carrier.
 
 Should I be concerned that it said a "severe mutation"? It probably would not be on my mind so much but he had to be hospitalized for something unrelated (at least I think that it was unrelated)and they wanted to "rule out" a positive result for CF. The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.
 
 The doctor did not seem too worried and has not said that he will need additional testing right now. Should I push for it? Or would it be safe to wait and see if he is sick alot.

Rebjane · May 27, 2008

It sounds like you have a few unanswered questions. What was your baby hospitalized for that initiated the CF testing? Did your baby have a "sweat test" that was borderline? In order for a child to have CF; they need to have 2 mutations. They get one CF mutation from their mother and one from their father. If your baby is just a carrier(only has one mutation) they do not have CF. If your baby had a "borderline" sweat test and one mutation, I would demand further testing for genetic analysis for a complete blood test for all CF mutations(there are over 1500 identified mutations). I know this all sounds confusing. Ask the pediatrician what test he is doing why and don't stop til you understand what he is saying. I tend to request a copy of all bloodwork and testing done on my daughter, that way I can read what they have done and ask questions. HTH

Rebjane · May 27, 2008

It sounds like you have a few unanswered questions. What was your baby hospitalized for that initiated the CF testing? Did your baby have a "sweat test" that was borderline? In order for a child to have CF; they need to have 2 mutations. They get one CF mutation from their mother and one from their father. If your baby is just a carrier(only has one mutation) they do not have CF. If your baby had a "borderline" sweat test and one mutation, I would demand further testing for genetic analysis for a complete blood test for all CF mutations(there are over 1500 identified mutations). I know this all sounds confusing. Ask the pediatrician what test he is doing why and don't stop til you understand what he is saying. I tend to request a copy of all bloodwork and testing done on my daughter, that way I can read what they have done and ask questions. HTH

Rebjane · May 27, 2008

It sounds like you have a few unanswered questions. What was your baby hospitalized for that initiated the CF testing? Did your baby have a "sweat test" that was borderline? In order for a child to have CF; they need to have 2 mutations. They get one CF mutation from their mother and one from their father. If your baby is just a carrier(only has one mutation) they do not have CF. If your baby had a "borderline" sweat test and one mutation, I would demand further testing for genetic analysis for a complete blood test for all CF mutations(there are over 1500 identified mutations). I know this all sounds confusing. Ask the pediatrician what test he is doing why and don't stop til you understand what he is saying. I tend to request a copy of all bloodwork and testing done on my daughter, that way I can read what they have done and ask questions. HTH

Rebjane · May 27, 2008

It sounds like you have a few unanswered questions. What was your baby hospitalized for that initiated the CF testing? Did your baby have a "sweat test" that was borderline? In order for a child to have CF; they need to have 2 mutations. They get one CF mutation from their mother and one from their father. If your baby is just a carrier(only has one mutation) they do not have CF. If your baby had a "borderline" sweat test and one mutation, I would demand further testing for genetic analysis for a complete blood test for all CF mutations(there are over 1500 identified mutations). I know this all sounds confusing. Ask the pediatrician what test he is doing why and don't stop til you understand what he is saying. I tend to request a copy of all bloodwork and testing done on my daughter, that way I can read what they have done and ask questions. HTH

Rebjane · May 27, 2008

It sounds like you have a few unanswered questions. What was your baby hospitalized for that initiated the CF testing? Did your baby have a "sweat test" that was borderline? In order for a child to have CF; they need to have 2 mutations. They get one CF mutation from their mother and one from their father. If your baby is just a carrier(only has one mutation) they do not have CF. If your baby had a "borderline" sweat test and one mutation, I would demand further testing for genetic analysis for a complete blood test for all CF mutations(there are over 1500 identified mutations). I know this all sounds confusing. Ask the pediatrician what test he is doing why and don't stop til you understand what he is saying. I tend to request a copy of all bloodwork and testing done on my daughter, that way I can read what they have done and ask questions. HTH

Mommafirst · May 28, 2008

With a borderline sweat test and a certain one mutation, I would PUSH PUSH PUSH for the rest of the testing. Knowing if he has CF is VERY important for preventative care. Hopefully he is just a carrier, but until you have ALL the other mutations checked and ruled out, CF is a possibility.

I don't mean to alarm you, I'm sure this is overwhelming and emotional. I've been there. I really hung on the "possibly just a carrier" and "nothing to worry about" and was CRUSHED when my daughter was diagnosed. We've all been there. But I have to say that an elevated (aka borderline) sweat test is NOT explained by carrier status. Elevated newborn IRT levels can be explained by carrier status, but being a carrier should not in any way change the sodium chloride in the sweat.

hang in there, I know its a tough time, but I do think you need to push for further testing and to see a CF doctor at an accredited CF center.

Mommafirst · May 28, 2008

With a borderline sweat test and a certain one mutation, I would PUSH PUSH PUSH for the rest of the testing. Knowing if he has CF is VERY important for preventative care. Hopefully he is just a carrier, but until you have ALL the other mutations checked and ruled out, CF is a possibility.

I don't mean to alarm you, I'm sure this is overwhelming and emotional. I've been there. I really hung on the "possibly just a carrier" and "nothing to worry about" and was CRUSHED when my daughter was diagnosed. We've all been there. But I have to say that an elevated (aka borderline) sweat test is NOT explained by carrier status. Elevated newborn IRT levels can be explained by carrier status, but being a carrier should not in any way change the sodium chloride in the sweat.

hang in there, I know its a tough time, but I do think you need to push for further testing and to see a CF doctor at an accredited CF center.

Mommafirst · May 28, 2008

With a borderline sweat test and a certain one mutation, I would PUSH PUSH PUSH for the rest of the testing. Knowing if he has CF is VERY important for preventative care. Hopefully he is just a carrier, but until you have ALL the other mutations checked and ruled out, CF is a possibility.

I don't mean to alarm you, I'm sure this is overwhelming and emotional. I've been there. I really hung on the "possibly just a carrier" and "nothing to worry about" and was CRUSHED when my daughter was diagnosed. We've all been there. But I have to say that an elevated (aka borderline) sweat test is NOT explained by carrier status. Elevated newborn IRT levels can be explained by carrier status, but being a carrier should not in any way change the sodium chloride in the sweat.

hang in there, I know its a tough time, but I do think you need to push for further testing and to see a CF doctor at an accredited CF center.

Mommafirst · May 28, 2008

With a borderline sweat test and a certain one mutation, I would PUSH PUSH PUSH for the rest of the testing. Knowing if he has CF is VERY important for preventative care. Hopefully he is just a carrier, but until you have ALL the other mutations checked and ruled out, CF is a possibility.

I don't mean to alarm you, I'm sure this is overwhelming and emotional. I've been there. I really hung on the "possibly just a carrier" and "nothing to worry about" and was CRUSHED when my daughter was diagnosed. We've all been there. But I have to say that an elevated (aka borderline) sweat test is NOT explained by carrier status. Elevated newborn IRT levels can be explained by carrier status, but being a carrier should not in any way change the sodium chloride in the sweat.

hang in there, I know its a tough time, but I do think you need to push for further testing and to see a CF doctor at an accredited CF center.

Mommafirst · May 28, 2008

With a borderline sweat test and a certain one mutation, I would PUSH PUSH PUSH for the rest of the testing. Knowing if he has CF is VERY important for preventative care. Hopefully he is just a carrier, but until you have ALL the other mutations checked and ruled out, CF is a possibility.
 
 I don't mean to alarm you, I'm sure this is overwhelming and emotional. I've been there. I really hung on the "possibly just a carrier" and "nothing to worry about" and was CRUSHED when my daughter was diagnosed. We've all been there. But I have to say that an elevated (aka borderline) sweat test is NOT explained by carrier status. Elevated newborn IRT levels can be explained by carrier status, but being a carrier should not in any way change the sodium chloride in the sweat.
 
 hang in there, I know its a tough time, but I do think you need to push for further testing and to see a CF doctor at an accredited CF center.

Sevenstars · May 28, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: lilacs

The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.

</end quote></div>

I am not quite sure what you mean by this.

Quick info on the genetics of this. It is a recessive disease which means that carriers have 1 copy of the gene and do not have CF. You need 2 copies of the gene to have CF.

Lets call the gene that dictates CF "c".

C (capital letter) stands for a normal gene, no CF.
c (lower case) stands for a gene that will produce CF.

If mom and dad are BOTH carriers, their genotype will look like this: Cc. Neither of them will have CF.

Cc x Cc will produce 4 possible genotypes (possible types of kids!) (just match the letters from mom with the letters from dad)

CC, Cc, cC, cc

The first combo (CC) has no cf genes at all, so thats not a carrier.
The next two (Cc) are both carriers but do not have CF.
The last combo (cc) has CF since it has two of the genes.

I hope that made sense.

How does it apply to you? If you are a carrier there is certainly a chance that he can have CF so I would push for further genetic testing.

Since the test revealed HE is a carrier too, that means he has genotype c?, where ? could be C or c... further genetic testing will reveal what that is. Basically it is 50/50 depending on if your husband is a carrier or not.

Good luck, I hope you get answers.

Sevenstars · May 28, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: lilacs

The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.

</end quote></div>

I am not quite sure what you mean by this.

Quick info on the genetics of this. It is a recessive disease which means that carriers have 1 copy of the gene and do not have CF. You need 2 copies of the gene to have CF.

Lets call the gene that dictates CF "c".

C (capital letter) stands for a normal gene, no CF.
c (lower case) stands for a gene that will produce CF.

If mom and dad are BOTH carriers, their genotype will look like this: Cc. Neither of them will have CF.

Cc x Cc will produce 4 possible genotypes (possible types of kids!) (just match the letters from mom with the letters from dad)

CC, Cc, cC, cc

The first combo (CC) has no cf genes at all, so thats not a carrier.
The next two (Cc) are both carriers but do not have CF.
The last combo (cc) has CF since it has two of the genes.

I hope that made sense.

How does it apply to you? If you are a carrier there is certainly a chance that he can have CF so I would push for further genetic testing.

Since the test revealed HE is a carrier too, that means he has genotype c?, where ? could be C or c... further genetic testing will reveal what that is. Basically it is 50/50 depending on if your husband is a carrier or not.

Good luck, I hope you get answers.

Sevenstars · May 28, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: lilacs

The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.

</end quote></div>

I am not quite sure what you mean by this.

Quick info on the genetics of this. It is a recessive disease which means that carriers have 1 copy of the gene and do not have CF. You need 2 copies of the gene to have CF.

Lets call the gene that dictates CF "c".

C (capital letter) stands for a normal gene, no CF.
c (lower case) stands for a gene that will produce CF.

If mom and dad are BOTH carriers, their genotype will look like this: Cc. Neither of them will have CF.

Cc x Cc will produce 4 possible genotypes (possible types of kids!) (just match the letters from mom with the letters from dad)

CC, Cc, cC, cc

The first combo (CC) has no cf genes at all, so thats not a carrier.
The next two (Cc) are both carriers but do not have CF.
The last combo (cc) has CF since it has two of the genes.

I hope that made sense.

How does it apply to you? If you are a carrier there is certainly a chance that he can have CF so I would push for further genetic testing.

Since the test revealed HE is a carrier too, that means he has genotype c?, where ? could be C or c... further genetic testing will reveal what that is. Basically it is 50/50 depending on if your husband is a carrier or not.

Good luck, I hope you get answers.

Sevenstars · May 28, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: lilacs

The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.

</end quote>

I am not quite sure what you mean by this.

Quick info on the genetics of this. It is a recessive disease which means that carriers have 1 copy of the gene and do not have CF. You need 2 copies of the gene to have CF.

Lets call the gene that dictates CF "c".

C (capital letter) stands for a normal gene, no CF.
c (lower case) stands for a gene that will produce CF.

If mom and dad are BOTH carriers, their genotype will look like this: Cc. Neither of them will have CF.

Cc x Cc will produce 4 possible genotypes (possible types of kids!) (just match the letters from mom with the letters from dad)

CC, Cc, cC, cc

The first combo (CC) has no cf genes at all, so thats not a carrier.
The next two (Cc) are both carriers but do not have CF.
The last combo (cc) has CF since it has two of the genes.

I hope that made sense.

How does it apply to you? If you are a carrier there is certainly a chance that he can have CF so I would push for further genetic testing.

Since the test revealed HE is a carrier too, that means he has genotype c?, where ? could be C or c... further genetic testing will reveal what that is. Basically it is 50/50 depending on if your husband is a carrier or not.

Good luck, I hope you get answers.

Sevenstars · May 28, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: lilacs
 
 The first test that they did was boarderline but I cannot remember if it was for carrier status or whether or not he had it.
 
 </end quote>
 
 I am not quite sure what you mean by this.
 
 Quick info on the genetics of this. It is a recessive disease which means that carriers have 1 copy of the gene and do not have CF. You need 2 copies of the gene to have CF.
 
 Lets call the gene that dictates CF "c".
 
 C (capital letter) stands for a normal gene, no CF.
 c (lower case) stands for a gene that will produce CF.
 
 If mom and dad are BOTH carriers, their genotype will look like this: Cc. Neither of them will have CF.
 
 Cc x Cc will produce 4 possible genotypes (possible types of kids!) (just match the letters from mom with the letters from dad)
 
 CC, Cc, cC, cc
 
 The first combo (CC) has no cf genes at all, so thats not a carrier.
 The next two (Cc) are both carriers but do not have CF.
 The last combo (cc) has CF since it has two of the genes.
 
 I hope that made sense.
 
 How does it apply to you? If you are a carrier there is certainly a chance that he can have CF so I would push for further genetic testing.
 
 Since the test revealed HE is a carrier too, that means he has genotype c?, where ? could be C or c... further genetic testing will reveal what that is. Basically it is 50/50 depending on if your husband is a carrier or not.
 
 Good luck, I hope you get answers.

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