ok need urgent help

Cherylwithone · Sep 4, 2008

Don't back off. Keep pushing. It really sounds like cf.
My dd is still only 3% on the growth chart. If he is coughting everyday and everything else you are telling us then push for the blood work. You will only have regrets if you don't. We have no family history on either side of anyone having cf. zero, zip. nada.

Cheryl mom to Malora 15 w/cf

Cherylwithone · Sep 4, 2008

Don't back off. Keep pushing. It really sounds like cf.
My dd is still only 3% on the growth chart. If he is coughting everyday and everything else you are telling us then push for the blood work. You will only have regrets if you don't. We have no family history on either side of anyone having cf. zero, zip. nada.

Cheryl mom to Malora 15 w/cf

Cherylwithone · Sep 4, 2008

Don't back off. Keep pushing. It really sounds like cf.
My dd is still only 3% on the growth chart. If he is coughting everyday and everything else you are telling us then push for the blood work. You will only have regrets if you don't. We have no family history on either side of anyone having cf. zero, zip. nada.

Cheryl mom to Malora 15 w/cf

Cherylwithone · Sep 4, 2008

Don't back off. Keep pushing. It really sounds like cf.
My dd is still only 3% on the growth chart. If he is coughting everyday and everything else you are telling us then push for the blood work. You will only have regrets if you don't. We have no family history on either side of anyone having cf. zero, zip. nada.

Cheryl mom to Malora 15 w/cf

Cherylwithone · Sep 4, 2008

Don't back off. Keep pushing. It really sounds like cf.
<br />My dd is still only 3% on the growth chart. If he is coughting everyday and everything else you are telling us then push for the blood work. You will only have regrets if you don't. We have no family history on either side of anyone having cf. zero, zip. nada.
<br />
<br />Cheryl mom to Malora 15 w/cf

Alyssa · Sep 4, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>mrsp86</b></i>

so at what stage do i ask for a gene screening what do u mean here HOWEVER, DS's was a normal 32 when he was tested. No family history either on either side of the family and geneaology records go back extensively.</end quote></div>

This means that the chart of negative, borderline, positive is not always followed exactly ! There are many people who have genetically confirmed cases, but have normal or borderline results - the chart should really be used as only a guideline, not gospel. My kids test out at 38 & 41.

Alyssa · Sep 4, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>mrsp86</b></i>

so at what stage do i ask for a gene screening what do u mean here HOWEVER, DS's was a normal 32 when he was tested. No family history either on either side of the family and geneaology records go back extensively.</end quote></div>

This means that the chart of negative, borderline, positive is not always followed exactly ! There are many people who have genetically confirmed cases, but have normal or borderline results - the chart should really be used as only a guideline, not gospel. My kids test out at 38 & 41.

Alyssa · Sep 4, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>mrsp86</b></i>

so at what stage do i ask for a gene screening what do u mean here HOWEVER, DS's was a normal 32 when he was tested. No family history either on either side of the family and geneaology records go back extensively.</end quote></div>

This means that the chart of negative, borderline, positive is not always followed exactly ! There are many people who have genetically confirmed cases, but have normal or borderline results - the chart should really be used as only a guideline, not gospel. My kids test out at 38 & 41.

Alyssa · Sep 4, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>mrsp86</b></i>

so at what stage do i ask for a gene screening what do u mean here HOWEVER, DS's was a normal 32 when he was tested. No family history either on either side of the family and geneaology records go back extensively.</end quote>

This means that the chart of negative, borderline, positive is not always followed exactly ! There are many people who have genetically confirmed cases, but have normal or borderline results - the chart should really be used as only a guideline, not gospel. My kids test out at 38 & 41.

Alyssa · Sep 4, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>mrsp86</b></i>
<br />
<br />so at what stage do i ask for a gene screening what do u mean here HOWEVER, DS's was a normal 32 when he was tested. No family history either on either side of the family and geneaology records go back extensively.</end quote>
<br />
<br />This means that the chart of negative, borderline, positive is not always followed exactly ! There are many people who have genetically confirmed cases, but have normal or borderline results - the chart should really be used as only a guideline, not gospel. My kids test out at 38 & 41.

Juliet · Sep 5, 2008

I've been confirmed to have 2 mutations and 1 "novel variant" for CF yet my sweat tests were all declared "Normal." The actual numbers were 54, 40 and 47 spanning from 2006 back to 1983. I was only diagnosed this year after GENETIC testing. There is no evidence of CF in my family on either side either.

I hope you're able to get the genetic testing done as it's the only conclusive method out there - and be sure it's not just genetic screening, which looks for a small handfull (like 53 or 97) of the over 1600 KNOWN mutations that cause CF.

in my case the "Novel Variant" is part of the genetic sequence that's not what they'd expect, but since I'm the first one they've seen it in (my daughter is the 2nd!) and since it's on a chromosome with another known mutation they can't yet label it a mutation because they don't know for sure if that alone would cause CF. ~Juliet

Juliet · Sep 5, 2008

I've been confirmed to have 2 mutations and 1 "novel variant" for CF yet my sweat tests were all declared "Normal." The actual numbers were 54, 40 and 47 spanning from 2006 back to 1983. I was only diagnosed this year after GENETIC testing. There is no evidence of CF in my family on either side either.

I hope you're able to get the genetic testing done as it's the only conclusive method out there - and be sure it's not just genetic screening, which looks for a small handfull (like 53 or 97) of the over 1600 KNOWN mutations that cause CF.

in my case the "Novel Variant" is part of the genetic sequence that's not what they'd expect, but since I'm the first one they've seen it in (my daughter is the 2nd!) and since it's on a chromosome with another known mutation they can't yet label it a mutation because they don't know for sure if that alone would cause CF. ~Juliet

Juliet · Sep 5, 2008

I've been confirmed to have 2 mutations and 1 "novel variant" for CF yet my sweat tests were all declared "Normal." The actual numbers were 54, 40 and 47 spanning from 2006 back to 1983. I was only diagnosed this year after GENETIC testing. There is no evidence of CF in my family on either side either.

I hope you're able to get the genetic testing done as it's the only conclusive method out there - and be sure it's not just genetic screening, which looks for a small handfull (like 53 or 97) of the over 1600 KNOWN mutations that cause CF.

in my case the "Novel Variant" is part of the genetic sequence that's not what they'd expect, but since I'm the first one they've seen it in (my daughter is the 2nd!) and since it's on a chromosome with another known mutation they can't yet label it a mutation because they don't know for sure if that alone would cause CF. ~Juliet

Juliet · Sep 5, 2008

I've been confirmed to have 2 mutations and 1 "novel variant" for CF yet my sweat tests were all declared "Normal." The actual numbers were 54, 40 and 47 spanning from 2006 back to 1983. I was only diagnosed this year after GENETIC testing. There is no evidence of CF in my family on either side either.

I hope you're able to get the genetic testing done as it's the only conclusive method out there - and be sure it's not just genetic screening, which looks for a small handfull (like 53 or 97) of the over 1600 KNOWN mutations that cause CF.

in my case the "Novel Variant" is part of the genetic sequence that's not what they'd expect, but since I'm the first one they've seen it in (my daughter is the 2nd!) and since it's on a chromosome with another known mutation they can't yet label it a mutation because they don't know for sure if that alone would cause CF. ~Juliet

Juliet · Sep 5, 2008

I've been confirmed to have 2 mutations and 1 "novel variant" for CF yet my sweat tests were all declared "Normal." The actual numbers were 54, 40 and 47 spanning from 2006 back to 1983. I was only diagnosed this year after GENETIC testing. There is no evidence of CF in my family on either side either.
<br />
<br />I hope you're able to get the genetic testing done as it's the only conclusive method out there - and be sure it's not just genetic screening, which looks for a small handfull (like 53 or 97) of the over 1600 KNOWN mutations that cause CF.
<br />
<br />in my case the "Novel Variant" is part of the genetic sequence that's not what they'd expect, but since I'm the first one they've seen it in (my daughter is the 2nd!) and since it's on a chromosome with another known mutation they can't yet label it a mutation because they don't know for sure if that alone would cause CF. ~Juliet

mrsp86 · Sep 5, 2008