Atypical Cystic Fibrosis

[posoutlook]

I know from reading on this forum that the topic Atypical Cystic Fibrosis seems to upset some people and my question is why? I read some posts saying that there is no such thing and that the people who say they are diagnosed with it are told that they need to go to an accredited CF Clinic and they are claiming to be Atypical because they don't want to admit they have it. Well my concern is that the negative response to people who say they have it is putting false information out there by saying there is no such thing as this. I think more people should educate themselves about it not only the community but also our doctors because in our case if our doctors would have know what to look for in the Atypical CF diagnosis my son would have been saved years of doctors not knowing what was going on with him.

Luke is 9 years old and we have battled for years with ENT division. When he was 3 weeks old he had pyloric stenosis surgery and had severe reflux for his first year of life. He also had his first sinus infection at 2 months along with ear infection. To make a long story short he has had 9 sets of tubes, tonsillectomy, adenoidectomy twice a constant cough, ear glue and congestion his entire life, sinus cysts, polyps in his nose and been on 43 courses of antibiotics since birth. And no matter what doctor we would see no one could figure out what was wrong. Finally the chief of ENT at Pittsburgh's Children Hospital referred us for a sweat test "to rule out CF" cause of the findings of the sinus cysts.

With in 3 hours our life changed he had a 45 and 64 and we were at the CF Clinic the next day. They had him repeat it cause of the borderline result and they came back 64 and 68. His full genetics testing came back with ALL unidentified mutations which was baffling to all of the doctors. He is pancreatic sufficient at this time although he does get constipated and has a large appetite without gaining weight. He has always been in the 10% for weight and height.
It is also uncommon for CF patients to have Tubes in their ears. (because of that ent always ruled out the possibility of CF) His PFT are always 98%. Although he was just admitted to Children's 1 month ago for his first case of pneumonia. While admitted the hospital ER refused to treat him as a CF patient because his chart said possible CF. They kept telling me he had asthma which mad me so angry cause I know he does not have asthma but of course they acted like they heard me but upon discharge the discharge papers said he had asthma.

Well because of all the conflict in his diagnosis we were sent to JOHNS HOPKINS HOSPITAL on Monday. And Luke was diagnosis with ATYPICAL CYSTIC FIBROSIS actually it is called typical atypical cf which is not the same as CFTR.
He has CF there is no question about that it is just he has different symptoms then typical CF. And yes he is still treated like any other cf patient vest, inhaler, vitamins nose sprays and regular CF appointments. It is sad that people and physicians do not even know about atypical cf cause from what our doctor said on monday there are so many people out there struggling with there health and are sent from doctor to doctor with no one able to help because they do not show typical signs of cf.

 

[posoutlook]

I know from reading on this forum that the topic Atypical Cystic Fibrosis seems to upset some people and my question is why? I read some posts saying that there is no such thing and that the people who say they are diagnosed with it are told that they need to go to an accredited CF Clinic and they are claiming to be Atypical because they don't want to admit they have it. Well my concern is that the negative response to people who say they have it is putting false information out there by saying there is no such thing as this. I think more people should educate themselves about it not only the community but also our doctors because in our case if our doctors would have know what to look for in the Atypical CF diagnosis my son would have been saved years of doctors not knowing what was going on with him.

Luke is 9 years old and we have battled for years with ENT division. When he was 3 weeks old he had pyloric stenosis surgery and had severe reflux for his first year of life. He also had his first sinus infection at 2 months along with ear infection. To make a long story short he has had 9 sets of tubes, tonsillectomy, adenoidectomy twice a constant cough, ear glue and congestion his entire life, sinus cysts, polyps in his nose and been on 43 courses of antibiotics since birth. And no matter what doctor we would see no one could figure out what was wrong. Finally the chief of ENT at Pittsburgh's Children Hospital referred us for a sweat test "to rule out CF" cause of the findings of the sinus cysts.

With in 3 hours our life changed he had a 45 and 64 and we were at the CF Clinic the next day. They had him repeat it cause of the borderline result and they came back 64 and 68. His full genetics testing came back with ALL unidentified mutations which was baffling to all of the doctors. He is pancreatic sufficient at this time although he does get constipated and has a large appetite without gaining weight. He has always been in the 10% for weight and height.
It is also uncommon for CF patients to have Tubes in their ears. (because of that ent always ruled out the possibility of CF) His PFT are always 98%. Although he was just admitted to Children's 1 month ago for his first case of pneumonia. While admitted the hospital ER refused to treat him as a CF patient because his chart said possible CF. They kept telling me he had asthma which mad me so angry cause I know he does not have asthma but of course they acted like they heard me but upon discharge the discharge papers said he had asthma.

Well because of all the conflict in his diagnosis we were sent to JOHNS HOPKINS HOSPITAL on Monday. And Luke was diagnosis with ATYPICAL CYSTIC FIBROSIS actually it is called typical atypical cf which is not the same as CFTR.
He has CF there is no question about that it is just he has different symptoms then typical CF. And yes he is still treated like any other cf patient vest, inhaler, vitamins nose sprays and regular CF appointments. It is sad that people and physicians do not even know about atypical cf cause from what our doctor said on monday there are so many people out there struggling with there health and are sent from doctor to doctor with no one able to help because they do not show typical signs of cf.

 

[posoutlook]

I know from reading on this forum that the topic Atypical Cystic Fibrosis seems to upset some people and my question is why? I read some posts saying that there is no such thing and that the people who say they are diagnosed with it are told that they need to go to an accredited CF Clinic and they are claiming to be Atypical because they don't want to admit they have it. Well my concern is that the negative response to people who say they have it is putting false information out there by saying there is no such thing as this. I think more people should educate themselves about it not only the community but also our doctors because in our case if our doctors would have know what to look for in the Atypical CF diagnosis my son would have been saved years of doctors not knowing what was going on with him.
<br />
<br />Luke is 9 years old and we have battled for years with ENT division. When he was 3 weeks old he had pyloric stenosis surgery and had severe reflux for his first year of life. He also had his first sinus infection at 2 months along with ear infection. To make a long story short he has had 9 sets of tubes, tonsillectomy, adenoidectomy twice a constant cough, ear glue and congestion his entire life, sinus cysts, polyps in his nose and been on 43 courses of antibiotics since birth. And no matter what doctor we would see no one could figure out what was wrong. Finally the chief of ENT at Pittsburgh's Children Hospital referred us for a sweat test "to rule out CF" cause of the findings of the sinus cysts.
<br />
<br />With in 3 hours our life changed he had a 45 and 64 and we were at the CF Clinic the next day. They had him repeat it cause of the borderline result and they came back 64 and 68. His full genetics testing came back with ALL unidentified mutations which was baffling to all of the doctors. He is pancreatic sufficient at this time although he does get constipated and has a large appetite without gaining weight. He has always been in the 10% for weight and height.
<br />It is also uncommon for CF patients to have Tubes in their ears. (because of that ent always ruled out the possibility of CF) His PFT are always 98%. Although he was just admitted to Children's 1 month ago for his first case of pneumonia. While admitted the hospital ER refused to treat him as a CF patient because his chart said possible CF. They kept telling me he had asthma which mad me so angry cause I know he does not have asthma but of course they acted like they heard me but upon discharge the discharge papers said he had asthma.
<br />
<br />Well because of all the conflict in his diagnosis we were sent to JOHNS HOPKINS HOSPITAL on Monday. And Luke was diagnosis with ATYPICAL CYSTIC FIBROSIS actually it is called typical atypical cf which is not the same as CFTR.
<br />He has CF there is no question about that it is just he has different symptoms then typical CF. And yes he is still treated like any other cf patient vest, inhaler, vitamins nose sprays and regular CF appointments. It is sad that people and physicians do not even know about atypical cf cause from what our doctor said on monday there are so many people out there struggling with there health and are sent from doctor to doctor with no one able to help because they do not show typical signs of cf.

 

[Mommafirst]

The problem with the term "atypical CF" is that it is used in a variety of situations that all mean different things and confuse patients, parents and doctors alike.

Atypical CF is merely a term used to definte that the patient does not meet all the criteria in the typical way.

For some, like your son, this means they lack one of the diagnostics such as a known mutation or positive sweat test, but still clearly have CF and must be treated with it.

For others, it is used when a child HAS two mutations but no other diagnostic criteria and thus the assumption is that it is unclear whether the CF will be disease causing. Or if the disease will have a slower progression than in the "typical" case of CF. It is THIS situation for which the vast majority of people take issue with, because CF is very different for EVERY patient, even with those that share the same genetics. And banking on the fact that your (or your child's) CF will not actually yield disease is a risky road that will feed into denial and a likelihood that the patient won't get proper preventative care. Since there is no way to predict this, and at this point 2 CF mutations = CF, it is a bothersome and concerning trend.

So when the term "atypical" comes up, there is an outcry of there is no such thing. It is not, in anyway, to say that your son doesn't have CF or that he hasn't been given that terminology. But to be clear, the concern is that "atypical" would mean somehow less severe, less concerning, less progressive than the disease is.

The doctors do need to clarify the terms they use. My daughter's doctor used the term genetic CF vs. clinical CF. They started by giving her a "genetic" diagnosis, but eventually moved to a "clinical" one once she exhibited symptoms that indicated that her CF is "typical". In your son's case... he has "clinical" CF... meaning he has symptoms and must be treated as a "typical CF patient" even though he doesn't test as having 2 known mutations.

anyway, I hope this helps. You are right, its a touchy subject that I have found is based more on a miscommunication of terms rather than adversarial relations.

 

[Mommafirst]

The problem with the term "atypical CF" is that it is used in a variety of situations that all mean different things and confuse patients, parents and doctors alike.

Atypical CF is merely a term used to definte that the patient does not meet all the criteria in the typical way.

For some, like your son, this means they lack one of the diagnostics such as a known mutation or positive sweat test, but still clearly have CF and must be treated with it.

For others, it is used when a child HAS two mutations but no other diagnostic criteria and thus the assumption is that it is unclear whether the CF will be disease causing. Or if the disease will have a slower progression than in the "typical" case of CF. It is THIS situation for which the vast majority of people take issue with, because CF is very different for EVERY patient, even with those that share the same genetics. And banking on the fact that your (or your child's) CF will not actually yield disease is a risky road that will feed into denial and a likelihood that the patient won't get proper preventative care. Since there is no way to predict this, and at this point 2 CF mutations = CF, it is a bothersome and concerning trend.

So when the term "atypical" comes up, there is an outcry of there is no such thing. It is not, in anyway, to say that your son doesn't have CF or that he hasn't been given that terminology. But to be clear, the concern is that "atypical" would mean somehow less severe, less concerning, less progressive than the disease is.

The doctors do need to clarify the terms they use. My daughter's doctor used the term genetic CF vs. clinical CF. They started by giving her a "genetic" diagnosis, but eventually moved to a "clinical" one once she exhibited symptoms that indicated that her CF is "typical". In your son's case... he has "clinical" CF... meaning he has symptoms and must be treated as a "typical CF patient" even though he doesn't test as having 2 known mutations.

anyway, I hope this helps. You are right, its a touchy subject that I have found is based more on a miscommunication of terms rather than adversarial relations.

 

[Mommafirst]

The problem with the term "atypical CF" is that it is used in a variety of situations that all mean different things and confuse patients, parents and doctors alike.
<br />
<br />Atypical CF is merely a term used to definte that the patient does not meet all the criteria in the typical way.
<br />
<br />For some, like your son, this means they lack one of the diagnostics such as a known mutation or positive sweat test, but still clearly have CF and must be treated with it.
<br />
<br />For others, it is used when a child HAS two mutations but no other diagnostic criteria and thus the assumption is that it is unclear whether the CF will be disease causing. Or if the disease will have a slower progression than in the "typical" case of CF. It is THIS situation for which the vast majority of people take issue with, because CF is very different for EVERY patient, even with those that share the same genetics. And banking on the fact that your (or your child's) CF will not actually yield disease is a risky road that will feed into denial and a likelihood that the patient won't get proper preventative care. Since there is no way to predict this, and at this point 2 CF mutations = CF, it is a bothersome and concerning trend.
<br />
<br />So when the term "atypical" comes up, there is an outcry of there is no such thing. It is not, in anyway, to say that your son doesn't have CF or that he hasn't been given that terminology. But to be clear, the concern is that "atypical" would mean somehow less severe, less concerning, less progressive than the disease is.
<br />
<br />The doctors do need to clarify the terms they use. My daughter's doctor used the term genetic CF vs. clinical CF. They started by giving her a "genetic" diagnosis, but eventually moved to a "clinical" one once she exhibited symptoms that indicated that her CF is "typical". In your son's case... he has "clinical" CF... meaning he has symptoms and must be treated as a "typical CF patient" even though he doesn't test as having 2 known mutations.
<br />
<br />anyway, I hope this helps. You are right, its a touchy subject that I have found is based more on a miscommunication of terms rather than adversarial relations.

 

[alkthatcher]

My son was recently diagnosed with cystic fibrosis and this was one of the first search results for the term on this site. I was unaware of any contention over the diagnosis, our doctors seemed to act like it was a perfectly normal diagnosis. We don't have the full results of my husbands' and my genetic testing yet, but were told we both passed on a mutation. I think one of us passed on the carrier gene and one of use, we were told, passed on an "atypical mutation."

So, this diagnosis doesn't seem to lend us to either a "genetic CF" or "clinical CF" classification. Does this matter in terms of care?

 

[alkthatcher]

My son was recently diagnosed with cystic fibrosis and this was one of the first search results for the term on this site. I was unaware of any contention over the diagnosis, our doctors seemed to act like it was a perfectly normal diagnosis. We don't have the full results of my husbands' and my genetic testing yet, but were told we both passed on a mutation. I think one of us passed on the carrier gene and one of use, we were told, passed on an "atypical mutation."

So, this diagnosis doesn't seem to lend us to either a "genetic CF" or "clinical CF" classification. Does this matter in terms of care?

 

[alkthatcher]

My son was recently diagnosed with cystic fibrosis and this was one of the first search results for the term on this site. I was unaware of any contention over the diagnosis, our doctors seemed to act like it was a perfectly normal diagnosis. We don't have the full results of my husbands' and my genetic testing yet, but were told we both passed on a mutation. I think one of us passed on the carrier gene and one of use, we were told, passed on an "atypical mutation."
<br />
<br />So, this diagnosis doesn't seem to lend us to either a "genetic CF" or "clinical CF" classification. Does this matter in terms of care?

 

[hmw]

<div class="FTQUOTE"><begin quote>I think one of us passed on the carrier gene and one of use, we were told, passed on an "atypical mutation."</end quote></div>
In order for someone to have CF (for purposes of this part of my post- CF being CF of any level of severity) you inherit a mutated gene from each parent; when both parents are carriers they have a 25% chance of any pregnancy resulting in a child with CF. So both of you passed on a 'carrier gene' ...there is no differentiation there- if you have ANY mutation, you are a carrier and if paired with another carrier, it can result in the disease; some cases being more severe than others from the outset, but CF all the same.

Re. the 'atypical' part... The dx sometimes matters with care, sometimes does not. I assume your son was dx'ed due to symptoms he was experiencing, and as long as he is being treated appropriately and proactively (preventative care is the main, most important way to slow the progression of this disease) it matters much less what the doctor chooses to call it. If the title 'atypical CF' leads to the health care team and/or parents not appropriately addressing the symptoms of the disease, in that case it matters a great deal. What symptoms are you seeing in your son? How old is he? I'm so sorry you are facing this dx but glad you found us here. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Please join us on the Families forum- there are many other parents there who can lend you more support and share whatever information you need.

 

[hmw]

<div class="FTQUOTE"><begin quote>I think one of us passed on the carrier gene and one of use, we were told, passed on an "atypical mutation."</end quote>
In order for someone to have CF (for purposes of this part of my post- CF being CF of any level of severity) you inherit a mutated gene from each parent; when both parents are carriers they have a 25% chance of any pregnancy resulting in a child with CF. So both of you passed on a 'carrier gene' ...there is no differentiation there- if you have ANY mutation, you are a carrier and if paired with another carrier, it can result in the disease; some cases being more severe than others from the outset, but CF all the same.

Re. the 'atypical' part... The dx sometimes matters with care, sometimes does not. I assume your son was dx'ed due to symptoms he was experiencing, and as long as he is being treated appropriately and proactively (preventative care is the main, most important way to slow the progression of this disease) it matters much less what the doctor chooses to call it. If the title 'atypical CF' leads to the health care team and/or parents not appropriately addressing the symptoms of the disease, in that case it matters a great deal. What symptoms are you seeing in your son? How old is he? I'm so sorry you are facing this dx but glad you found us here. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Please join us on the Families forum- there are many other parents there who can lend you more support and share whatever information you need.

 

[hmw]

<div class="FTQUOTE"><begin quote>I think one of us passed on the carrier gene and one of use, we were told, passed on an "atypical mutation."</end quote>
<br />In order for someone to have CF (for purposes of this part of my post- CF being CF of any level of severity) you inherit a mutated gene from each parent; when both parents are carriers they have a 25% chance of any pregnancy resulting in a child with CF. So both of you passed on a 'carrier gene' ...there is no differentiation there- if you have ANY mutation, you are a carrier and if paired with another carrier, it can result in the disease; some cases being more severe than others from the outset, but CF all the same.
<br />
<br />Re. the 'atypical' part... The dx sometimes matters with care, sometimes does not. I assume your son was dx'ed due to symptoms he was experiencing, and as long as he is being treated appropriately and proactively (preventative care is the main, most important way to slow the progression of this disease) it matters much less what the doctor chooses to call it. If the title 'atypical CF' leads to the health care team and/or parents not appropriately addressing the symptoms of the disease, in that case it matters a great deal. What symptoms are you seeing in your son? How old is he? I'm so sorry you are facing this dx but glad you found us here. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Please join us on the Families forum- there are many other parents there who can lend you more support and share whatever information you need.

 

[alkthatcher]

Actually, the state screening found my son's CF, but it was consistent with some of the conditions he was dealing with as a premature infant born at 26 weeks, 1 lb 4 oz. He is now up to 9 pounds and is five months old. Right now all we're doing is nebulizer treatments, pulmicort and pulmizyme and a vitamin. He has had chronic lung disease due to prematurity and being on a ventilator, but now we're unsure if some of his lung problems are symptoms of CF as well as or instead of chronic lung disease.

Is there anywhere on the forum that recommends different CF centers? My son is currently at A.I. duPont Hospital for Children in DE, but with this diagnosis we're considering transferring care to Children's Hospital of Philadelphia. The only ranking I could find of CF Centers was from US News and World Report and CHOP ranked #1 in pulmonary care but is much more inconvenient than duPont. None of our doctors will really tell us "yes, you should transfer to CHOP" they all say duPont is a perfectly good center too and more convenient. I don't know what to do.

 

[alkthatcher]

Actually, the state screening found my son's CF, but it was consistent with some of the conditions he was dealing with as a premature infant born at 26 weeks, 1 lb 4 oz. He is now up to 9 pounds and is five months old. Right now all we're doing is nebulizer treatments, pulmicort and pulmizyme and a vitamin. He has had chronic lung disease due to prematurity and being on a ventilator, but now we're unsure if some of his lung problems are symptoms of CF as well as or instead of chronic lung disease.

Is there anywhere on the forum that recommends different CF centers? My son is currently at A.I. duPont Hospital for Children in DE, but with this diagnosis we're considering transferring care to Children's Hospital of Philadelphia. The only ranking I could find of CF Centers was from US News and World Report and CHOP ranked #1 in pulmonary care but is much more inconvenient than duPont. None of our doctors will really tell us "yes, you should transfer to CHOP" they all say duPont is a perfectly good center too and more convenient. I don't know what to do.

 

[alkthatcher]

Actually, the state screening found my son's CF, but it was consistent with some of the conditions he was dealing with as a premature infant born at 26 weeks, 1 lb 4 oz. He is now up to 9 pounds and is five months old. Right now all we're doing is nebulizer treatments, pulmicort and pulmizyme and a vitamin. He has had chronic lung disease due to prematurity and being on a ventilator, but now we're unsure if some of his lung problems are symptoms of CF as well as or instead of chronic lung disease.
<br />
<br />Is there anywhere on the forum that recommends different CF centers? My son is currently at A.I. duPont Hospital for Children in DE, but with this diagnosis we're considering transferring care to Children's Hospital of Philadelphia. The only ranking I could find of CF Centers was from US News and World Report and CHOP ranked #1 in pulmonary care but is much more inconvenient than duPont. None of our doctors will really tell us "yes, you should transfer to CHOP" they all say duPont is a perfectly good center too and more convenient. I don't know what to do.

 

[Mommafirst]

This page will let you check out the accredited centers and you can look at their data as well.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/">http://www.cff.org/LivingWithCF/CareCenterNetwork/</a>

 

[Mommafirst]

This page will let you check out the accredited centers and you can look at their data as well.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/">http://www.cff.org/LivingWithCF/CareCenterNetwork/</a>

 

[Mommafirst]

This page will let you check out the accredited centers and you can look at their data as well.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/">http://www.cff.org/LivingWithCF/CareCenterNetwork/</a>

 

[hmw]

Going by statistics released by the CFF alone, DuPont is slightly below national average when it comes to the health of the children they care for, and the statistics at CHOP's center are among the best in the country for pulmonary health. There is more to a center than their statistics, but it's a good starting point to consider if one is looking to try somewhere new, especially since your child has so many pulmonary issues, CF-related and otherwise.

What did they pick up on your child's newborn screen- was it elevated IRT? What were the results of his sweat test and genetic testing? (I notice you say you and your dh are getting tested... wondering if the baby has been.) What made them decide he had 'atypical' CF vs. just 'CF'?

 

[hmw]

Going by statistics released by the CFF alone, DuPont is slightly below national average when it comes to the health of the children they care for, and the statistics at CHOP's center are among the best in the country for pulmonary health. There is more to a center than their statistics, but it's a good starting point to consider if one is looking to try somewhere new, especially since your child has so many pulmonary issues, CF-related and otherwise.

What did they pick up on your child's newborn screen- was it elevated IRT? What were the results of his sweat test and genetic testing? (I notice you say you and your dh are getting tested... wondering if the baby has been.) What made them decide he had 'atypical' CF vs. just 'CF'?