My son had been diagnosed with Atypical CF - this isn't a label I have chose to put on him or have heard somewhere and I thought, hey let's call it Atypical or that I use because I am in denial and think Atypical sounds better. He was <b>diagnosed</b> by two different accredited CF clinics with <b>Atypical CF</b>. It's real, it's out there, it's a term they use nowadays.I think the problem lies in the fact that a diagnosis of CF is not as cut and dry as it used to be. Back before genetic testing you had to have clear cut common symptoms to be labeled CF. Now that they are doing newborn screening, prenatal carrier screening, etc it is throwing a lot more kids into the CF pool that may have never been part of it before. You are getting kids that have two mutations, but have no classic symptoms whatsoever and you also have kids that have one or no mutations and symptoms all over the place. I can see where older CFers would cringe at the thought of the words and worry that all the new mommies out there won't do treatments for their kiddos, but I would suggest that you ask your cf clinic doctors why and who they diagnose as Atypical CF because I would bet you your clinic gives out that diagnosis also - it's not as uncommon as you think. Now I am talking about an actual diagnosis of Atypical CF, not the people who chose to use that term to mean mild CF. I totally agree, there is no mild cf, only mild CF symptoms for the time beingOh, and the reason they call my son's CF Atypical CF is because they can't find any mutations, yet he has very high sweat tests, lung damage, GI issues and Failure to Thrive. He's on the CF registry, follows traditional CF treatments and see the CF clinic every three months.
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
Is Atypical CF really all that uncommon?
- Thread starter Juliet
- Start date
My son had been diagnosed with Atypical CF - this isn't a label I have chose to put on him or have heard somewhere and I thought, hey let's call it Atypical or that I use because I am in denial and think Atypical sounds better. He was <b>diagnosed</b> by two different accredited CF clinics with <b>Atypical CF</b>. It's real, it's out there, it's a term they use nowadays.I think the problem lies in the fact that a diagnosis of CF is not as cut and dry as it used to be. Back before genetic testing you had to have clear cut common symptoms to be labeled CF. Now that they are doing newborn screening, prenatal carrier screening, etc it is throwing a lot more kids into the CF pool that may have never been part of it before. You are getting kids that have two mutations, but have no classic symptoms whatsoever and you also have kids that have one or no mutations and symptoms all over the place. I can see where older CFers would cringe at the thought of the words and worry that all the new mommies out there won't do treatments for their kiddos, but I would suggest that you ask your cf clinic doctors why and who they diagnose as Atypical CF because I would bet you your clinic gives out that diagnosis also - it's not as uncommon as you think. Now I am talking about an actual diagnosis of Atypical CF, not the people who chose to use that term to mean mild CF. I totally agree, there is no mild cf, only mild CF symptoms for the time beingOh, and the reason they call my son's CF Atypical CF is because they can't find any mutations, yet he has very high sweat tests, lung damage, GI issues and Failure to Thrive. He's on the CF registry, follows traditional CF treatments and see the CF clinic every three months.
My son had been diagnosed with Atypical CF - this isn't a label I have chose to put on him or have heard somewhere and I thought, hey let's call it Atypical or that I use because I am in denial and think Atypical sounds better. He was <b>diagnosed</b> by two different accredited CF clinics with <b>Atypical CF</b>. It's real, it's out there, it's a term they use nowadays.I think the problem lies in the fact that a diagnosis of CF is not as cut and dry as it used to be. Back before genetic testing you had to have clear cut common symptoms to be labeled CF. Now that they are doing newborn screening, prenatal carrier screening, etc it is throwing a lot more kids into the CF pool that may have never been part of it before. You are getting kids that have two mutations, but have no classic symptoms whatsoever and you also have kids that have one or no mutations and symptoms all over the place. I can see where older CFers would cringe at the thought of the words and worry that all the new mommies out there won't do treatments for their kiddos, but I would suggest that you ask your cf clinic doctors why and who they diagnose as Atypical CF because I would bet you your clinic gives out that diagnosis also - it's not as uncommon as you think. Now I am talking about an actual diagnosis of Atypical CF, not the people who chose to use that term to mean mild CF. I totally agree, there is no mild cf, only mild CF symptoms for the time beingOh, and the reason they call my son's CF Atypical CF is because they can't find any mutations, yet he has very high sweat tests, lung damage, GI issues and Failure to Thrive. He's on the CF registry, follows traditional CF treatments and see the CF clinic every three months.
My son had been diagnosed with Atypical CF - this isn't a label I have chose to put on him or have heard somewhere and I thought, hey let's call it Atypical or that I use because I am in denial and think Atypical sounds better. He was <b>diagnosed</b> by two different accredited CF clinics with <b>Atypical CF</b>. It's real, it's out there, it's a term they use nowadays.I think the problem lies in the fact that a diagnosis of CF is not as cut and dry as it used to be. Back before genetic testing you had to have clear cut common symptoms to be labeled CF. Now that they are doing newborn screening, prenatal carrier screening, etc it is throwing a lot more kids into the CF pool that may have never been part of it before. You are getting kids that have two mutations, but have no classic symptoms whatsoever and you also have kids that have one or no mutations and symptoms all over the place. I can see where older CFers would cringe at the thought of the words and worry that all the new mommies out there won't do treatments for their kiddos, but I would suggest that you ask your cf clinic doctors why and who they diagnose as Atypical CF because I would bet you your clinic gives out that diagnosis also - it's not as uncommon as you think. Now I am talking about an actual diagnosis of Atypical CF, not the people who chose to use that term to mean mild CF. I totally agree, there is no mild cf, only mild CF symptoms for the time beingOh, and the reason they call my son's CF Atypical CF is because they can't find any mutations, yet he has very high sweat tests, lung damage, GI issues and Failure to Thrive. He's on the CF registry, follows traditional CF treatments and see the CF clinic every three months.
<p>My son had been diagnosed with Atypical CF - this isn't a label I have chose to put on him or have heard somewhere and I thought, hey let's call it Atypical or that I use because I am in denial and think Atypical sounds better. He was <b>diagnosed</b> by two different accredited CF clinics with <b>Atypical CF</b>. It's real, it's out there, it's a term they use nowadays.<p>I think the problem lies in the fact that a diagnosis of CF is not as cut and dry as it used to be. Back before genetic testing you had to have clear cut common symptoms to be labeled CF. Now that they are doing newborn screening, prenatal carrier screening, etc it is throwing a lot more kids into the CF pool that may have never been part of it before. You are getting kids that have two mutations, but have no classic symptoms whatsoever and you also have kids that have one or no mutations and symptoms all over the place. I can see where older CFers would cringe at the thought of the words and worry that all the new mommies out there won't do treatments for their kiddos, but I would suggest that you ask your cf clinic doctors why and who they diagnose as Atypical CF because I would bet you your clinic gives out that diagnosis also - it's not as uncommon as you think. Now I am talking about an actual diagnosis of Atypical CF, not the people who chose to use that term to mean mild CF. I totally agree, there is no mild cf, only mild CF symptoms for the time being<p>Oh, and the reason they call my son's CF Atypical CF is because they can't find any mutations, yet he has very high sweat tests, lung damage, GI issues and Failure to Thrive. He's on the CF registry, follows traditional CF treatments and see the CF clinic every three months.
Sequencing is when they analyse the full CFTR gene as well as surrounding critical introns. The Ambry Amplified test is the sequencing test that everyone speaks of on here. Be aware that Genzyme and Quest also sequence now. They all also panel test. Panel testing is looking at the CFTR to see if there are any matches to known mutations. I believe the largest panel is 97 mutations. If more than 97 is looked for sequencing is done.
Sequencing is when they analyse the full CFTR gene as well as surrounding critical introns. The Ambry Amplified test is the sequencing test that everyone speaks of on here. Be aware that Genzyme and Quest also sequence now. They all also panel test. Panel testing is looking at the CFTR to see if there are any matches to known mutations. I believe the largest panel is 97 mutations. If more than 97 is looked for sequencing is done.
Sequencing is when they analyse the full CFTR gene as well as surrounding critical introns. The Ambry Amplified test is the sequencing test that everyone speaks of on here. Be aware that Genzyme and Quest also sequence now. They all also panel test. Panel testing is looking at the CFTR to see if there are any matches to known mutations. I believe the largest panel is 97 mutations. If more than 97 is looked for sequencing is done.
Sequencing is when they analyse the full CFTR gene as well as surrounding critical introns. The Ambry Amplified test is the sequencing test that everyone speaks of on here. Be aware that Genzyme and Quest also sequence now. They all also panel test. Panel testing is looking at the CFTR to see if there are any matches to known mutations. I believe the largest panel is 97 mutations. If more than 97 is looked for sequencing is done.
Sequencing is when they analyse the full CFTR gene as well as surrounding critical introns. The Ambry Amplified test is the sequencing test that everyone speaks of on here. Be aware that Genzyme and Quest also sequence now. They all also panel test. Panel testing is looking at the CFTR to see if there are any matches to known mutations. I believe the largest panel is 97 mutations. If more than 97 is looked for sequencing is done.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Buckeye</b></i>
he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote></div>
<b> NOTHING </b> sounds atypical to me....
and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
i could have 50 CF docs tell me something is so, but it by no means makes it true.
Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
But back to my original remark.... your kid doesn't sound atypical.
he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote></div>
<b> NOTHING </b> sounds atypical to me....
and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
i could have 50 CF docs tell me something is so, but it by no means makes it true.
Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
But back to my original remark.... your kid doesn't sound atypical.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Buckeye</b></i>
he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote></div>
<b> NOTHING </b> sounds atypical to me....
and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
i could have 50 CF docs tell me something is so, but it by no means makes it true.
Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
But back to my original remark.... your kid doesn't sound atypical.
he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote></div>
<b> NOTHING </b> sounds atypical to me....
and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
i could have 50 CF docs tell me something is so, but it by no means makes it true.
Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
But back to my original remark.... your kid doesn't sound atypical.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Buckeye</b></i>
he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote></div>
<b> NOTHING </b> sounds atypical to me....
and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
i could have 50 CF docs tell me something is so, but it by no means makes it true.
Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
But back to my original remark.... your kid doesn't sound atypical.
he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote></div>
<b> NOTHING </b> sounds atypical to me....
and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
i could have 50 CF docs tell me something is so, but it by no means makes it true.
Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
But back to my original remark.... your kid doesn't sound atypical.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Buckeye</b></i>
he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote>
<b> NOTHING </b> sounds atypical to me....
and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
i could have 50 CF docs tell me something is so, but it by no means makes it true.
Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
But back to my original remark.... your kid doesn't sound atypical.
he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote>
<b> NOTHING </b> sounds atypical to me....
and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
i could have 50 CF docs tell me something is so, but it by no means makes it true.
Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
But back to my original remark.... your kid doesn't sound atypical.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Buckeye</b></i>
<br /> he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote>
<br />
<br />
<br /><b> NOTHING </b> sounds atypical to me....
<br />
<br />and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
<br />
<br />i could have 50 CF docs tell me something is so, but it by no means makes it true.
<br />
<br />Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
<br />
<br />But back to my original remark.... your kid doesn't sound atypical.
<br /> he has very high sweat tests, lung damage, GI issues and Failure to Thrive. </end quote>
<br />
<br />
<br /><b> NOTHING </b> sounds atypical to me....
<br />
<br />and just because doctors say something is so, as you will learn on your CF journey, does not make it true.
<br />
<br />i could have 50 CF docs tell me something is so, but it by no means makes it true.
<br />
<br />Dr. Warwick reinforced this in my head after his treating CFers for 60 years. so the "the doctors said so!!!!!" argument holds 0 water for me.
<br />
<br />But back to my original remark.... your kid doesn't sound atypical.
Amy, maybe I wasn't clear in my post. My son is called Atypical CF only because he does not have two mutations - that is the only reason. It has nothing to do with his CF being non-classic, or his CF being mild or anything of the sort - nothing like that was ever told to us by anyone nor was it ever hinted at. I was just trying to explain where the terminology comes from - ie, someone who has CF, but does not have mutations is called Atypical CF.And as far as you not believing everything doctors tell you - glad to hear that you have found out that little secret. My son has multiple health issues and I realized the same thing many years ago when three different neuro-surgeons (all tops in their field) had three totally different opinions on a potential surgery for my son. You're preaching to the choir on that one.
Amy, maybe I wasn't clear in my post. My son is called Atypical CF only because he does not have two mutations - that is the only reason. It has nothing to do with his CF being non-classic, or his CF being mild or anything of the sort - nothing like that was ever told to us by anyone nor was it ever hinted at. I was just trying to explain where the terminology comes from - ie, someone who has CF, but does not have mutations is called Atypical CF.And as far as you not believing everything doctors tell you - glad to hear that you have found out that little secret. My son has multiple health issues and I realized the same thing many years ago when three different neuro-surgeons (all tops in their field) had three totally different opinions on a potential surgery for my son. You're preaching to the choir on that one.
Amy, maybe I wasn't clear in my post. My son is called Atypical CF only because he does not have two mutations - that is the only reason. It has nothing to do with his CF being non-classic, or his CF being mild or anything of the sort - nothing like that was ever told to us by anyone nor was it ever hinted at. I was just trying to explain where the terminology comes from - ie, someone who has CF, but does not have mutations is called Atypical CF.And as far as you not believing everything doctors tell you - glad to hear that you have found out that little secret. My son has multiple health issues and I realized the same thing many years ago when three different neuro-surgeons (all tops in their field) had three totally different opinions on a potential surgery for my son. You're preaching to the choir on that one.
Amy, maybe I wasn't clear in my post. My son is called Atypical CF only because he does not have two mutations - that is the only reason. It has nothing to do with his CF being non-classic, or his CF being mild or anything of the sort - nothing like that was ever told to us by anyone nor was it ever hinted at. I was just trying to explain where the terminology comes from - ie, someone who has CF, but does not have mutations is called Atypical CF.And as far as you not believing everything doctors tell you - glad to hear that you have found out that little secret. My son has multiple health issues and I realized the same thing many years ago when three different neuro-surgeons (all tops in their field) had three totally different opinions on a potential surgery for my son. You're preaching to the choir on that one.
<p>Amy, maybe I wasn't clear in my post. My son is called Atypical CF only because he does not have two mutations - that is the only reason. It has nothing to do with his CF being non-classic, or his CF being mild or anything of the sort - nothing like that was ever told to us by anyone nor was it ever hinted at. I was just trying to explain where the terminology comes from - ie, someone who has CF, but does not have mutations is called Atypical CF.<p>And as far as you not believing everything doctors tell you - glad to hear that you have found out that little secret. My son has multiple health issues and I realized the same thing many years ago when three different neuro-surgeons (all tops in their field) had three totally different opinions on a potential surgery for my son. You're preaching to the choir on that one.