confused over testing

[okok]

Well if you your son has a mutation that is associated with atypical CF they may be doing a sweat test to see if his sweat chloride falls within the parameters of atypical CF. However because your son has digestive issues and is only 1 year old it sounds as if your son's case is more in line with typical CF rather than atypical CF.

best of luck!

 

[momofcash]

what is the difference typical v. atypical? My son spent the first week of his like in the NICU due to what they told me was a merconium plug. over the past year he has had reflux treated with reglan, constipation, enemas, laxatives, ng tubes, we tried every type of formula and I always knew in my heart it was more than an 'immature digestive tract'. After a new pediatrician I finally have an answer and now I have more questions than I could have dreamed.

 

[momofcash]

what is the difference typical v. atypical? My son spent the first week of his like in the NICU due to what they told me was a merconium plug. over the past year he has had reflux treated with reglan, constipation, enemas, laxatives, ng tubes, we tried every type of formula and I always knew in my heart it was more than an 'immature digestive tract'. After a new pediatrician I finally have an answer and now I have more questions than I could have dreamed.

 

[momofcash]

what is the difference typical v. atypical? My son spent the first week of his like in the NICU due to what they told me was a merconium plug. over the past year he has had reflux treated with reglan, constipation, enemas, laxatives, ng tubes, we tried every type of formula and I always knew in my heart it was more than an 'immature digestive tract'. After a new pediatrician I finally have an answer and now I have more questions than I could have dreamed.

 

[ktsmom]

"okok" wrote this in another thread, I thought it was interesting at the time. Its from this thread: <a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=15473&highlight_key=y
">http://forums.cysticfibrosis.c...highlight_key=y
</a>

(Hope that link works)

There is an article published in the journal thorax titled Cystic fibrosis: terminology and diagnostic algorithms which details the diagnostic methods for diagonising cases of atypical CF. Typical CF is defined as sweat chloride greater than 60 mM and 1 or more phenotypic symptoms(ie pancreatic insufficiency, chronic sinopulmonary disease, salt loss syndromes, male genital abnormalities). Atypical CF is described as phenotypic syptoms in at least 1 organ system and a sweat chloride level less than 30mM. In this article, normal sweat chloride levels are strictly below 30mM and the borderline range is from 30-60mM.

In the case of atypical CF diagnosis is made by detection of two mutant CFTR alleles or by quantifying CFTR function using the nasal potential difference test.

In other words, most doctors would not make a diagnoses in someone with normal sweat chloride levels (below 30 mM) without having mutational evidence or nasal potential difference test to confirm the diagnoses.

End quote of okok

 

[ktsmom]

"okok" wrote this in another thread, I thought it was interesting at the time. Its from this thread: <a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=15473&highlight_key=y
">http://forums.cysticfibrosis.c...highlight_key=y
</a>

(Hope that link works)

There is an article published in the journal thorax titled Cystic fibrosis: terminology and diagnostic algorithms which details the diagnostic methods for diagonising cases of atypical CF. Typical CF is defined as sweat chloride greater than 60 mM and 1 or more phenotypic symptoms(ie pancreatic insufficiency, chronic sinopulmonary disease, salt loss syndromes, male genital abnormalities). Atypical CF is described as phenotypic syptoms in at least 1 organ system and a sweat chloride level less than 30mM. In this article, normal sweat chloride levels are strictly below 30mM and the borderline range is from 30-60mM.

In the case of atypical CF diagnosis is made by detection of two mutant CFTR alleles or by quantifying CFTR function using the nasal potential difference test.

In other words, most doctors would not make a diagnoses in someone with normal sweat chloride levels (below 30 mM) without having mutational evidence or nasal potential difference test to confirm the diagnoses.

End quote of okok

 

[ktsmom]

"okok" wrote this in another thread, I thought it was interesting at the time. Its from this thread: <a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=15473&highlight_key=y
">http://forums.cysticfibrosis.c...highlight_key=y
</a>

(Hope that link works)

There is an article published in the journal thorax titled Cystic fibrosis: terminology and diagnostic algorithms which details the diagnostic methods for diagonising cases of atypical CF. Typical CF is defined as sweat chloride greater than 60 mM and 1 or more phenotypic symptoms(ie pancreatic insufficiency, chronic sinopulmonary disease, salt loss syndromes, male genital abnormalities). Atypical CF is described as phenotypic syptoms in at least 1 organ system and a sweat chloride level less than 30mM. In this article, normal sweat chloride levels are strictly below 30mM and the borderline range is from 30-60mM.

In the case of atypical CF diagnosis is made by detection of two mutant CFTR alleles or by quantifying CFTR function using the nasal potential difference test.

In other words, most doctors would not make a diagnoses in someone with normal sweat chloride levels (below 30 mM) without having mutational evidence or nasal potential difference test to confirm the diagnoses.

End quote of okok

 

[Alyssa]

My kids are "a-typical" You can read my blog for more details (link in my signature line)

From what you are describing, my guess would be your child will fall more in the typical rather than a-typical category.

Sometimes it's very hard to understand the off handed remarks of those in the medical profession. My guess would be she meant they would explain more about the mutations. You can use the genetic information as a guideline, because there is some scientific information they can tell you... but nobody can say anything for sure even knowing what someone's genetic mutations are - each case is so different. Even identical twins with the same mutations will have different symptoms and degrees of illness. EveryBODY is different -- you just never know what is going to happen.

The good news is, your child will feel better and gain weight better after you get the enzyme stuff worked out.

Hang in there -- there is a ton of information to take in -- it takes time to take it all in.

 

[Alyssa]

My kids are "a-typical" You can read my blog for more details (link in my signature line)

From what you are describing, my guess would be your child will fall more in the typical rather than a-typical category.

Sometimes it's very hard to understand the off handed remarks of those in the medical profession. My guess would be she meant they would explain more about the mutations. You can use the genetic information as a guideline, because there is some scientific information they can tell you... but nobody can say anything for sure even knowing what someone's genetic mutations are - each case is so different. Even identical twins with the same mutations will have different symptoms and degrees of illness. EveryBODY is different -- you just never know what is going to happen.

The good news is, your child will feel better and gain weight better after you get the enzyme stuff worked out.

Hang in there -- there is a ton of information to take in -- it takes time to take it all in.

 

[Alyssa]

My kids are "a-typical" You can read my blog for more details (link in my signature line)

From what you are describing, my guess would be your child will fall more in the typical rather than a-typical category.

Sometimes it's very hard to understand the off handed remarks of those in the medical profession. My guess would be she meant they would explain more about the mutations. You can use the genetic information as a guideline, because there is some scientific information they can tell you... but nobody can say anything for sure even knowing what someone's genetic mutations are - each case is so different. Even identical twins with the same mutations will have different symptoms and degrees of illness. EveryBODY is different -- you just never know what is going to happen.

The good news is, your child will feel better and gain weight better after you get the enzyme stuff worked out.

Hang in there -- there is a ton of information to take in -- it takes time to take it all in.

 

[Alyssa]

Oh, and to answer your question about why do a sweat test... it's just something the doctors do, because it is one tool that they have used for so long. It's relatively cheap and easy (not invasive) to do.

It will give them the complete picture to say for sure "yes we are sure you child has CF"

It's good information to have -- it doesn't tell you anything about what may or may not happen in terms of severity of the disease, but it will give you an idea how much salt the child looses through their skin -- almost everyone with CF needs to be more careful on hot days to make sure they don't dehydrate.

 

[Alyssa]

Oh, and to answer your question about why do a sweat test... it's just something the doctors do, because it is one tool that they have used for so long. It's relatively cheap and easy (not invasive) to do.

It will give them the complete picture to say for sure "yes we are sure you child has CF"

It's good information to have -- it doesn't tell you anything about what may or may not happen in terms of severity of the disease, but it will give you an idea how much salt the child looses through their skin -- almost everyone with CF needs to be more careful on hot days to make sure they don't dehydrate.

 

[Alyssa]

Oh, and to answer your question about why do a sweat test... it's just something the doctors do, because it is one tool that they have used for so long. It's relatively cheap and easy (not invasive) to do.

It will give them the complete picture to say for sure "yes we are sure you child has CF"

It's good information to have -- it doesn't tell you anything about what may or may not happen in terms of severity of the disease, but it will give you an idea how much salt the child looses through their skin -- almost everyone with CF needs to be more careful on hot days to make sure they don't dehydrate.