Atypical CF

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hlgconk

New member
My six year old daughter was dx about 2 months ago w/CF and last week my 7 month old was dx w/ Atypical CF. They both have delts 508, 5T, 7T and 9T variants, I believe. The six year old is taking all the usual meds 3x a day. The 7th month old has only had 1 resp. infection and is not on any meds at this point. She has to have a chest Xray and stool sample. My oldest daughter, 7yrs. needs to start the whole genetic process in Mar. is does not have any resp. gasto problems. Soooo maybe she won't have CF.

My question is this... With two children with the same gentenic make, what are the chances that they both will have symptoms?
Do those with Atypical CF have as many complications as those that have "Classic CF"?
 
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hlgconk

New member
My six year old daughter was dx about 2 months ago w/CF and last week my 7 month old was dx w/ Atypical CF. They both have delts 508, 5T, 7T and 9T variants, I believe. The six year old is taking all the usual meds 3x a day. The 7th month old has only had 1 resp. infection and is not on any meds at this point. She has to have a chest Xray and stool sample. My oldest daughter, 7yrs. needs to start the whole genetic process in Mar. is does not have any resp. gasto problems. Soooo maybe she won't have CF.

My question is this... With two children with the same gentenic make, what are the chances that they both will have symptoms?
Do those with Atypical CF have as many complications as those that have "Classic CF"?
 
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anonymous

New member
Atypical CF just means that the mutations they have are not the most common (example Df508 being one of the most common). But, they still have cystic fibrosis. There is no way to determine the severity of their case based upon the mutations. This especially holds true when you look at 2 different people that have the exact same mutations and are at different ends of the health spectrum. There are many other factors that determine the severity such as climate, socio-economic, nutrition, and many others. And as many of us know sometimes it does not matter if every single need is met and you do everything you're supposed to do to take care of your child - they still get sick.
 
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anonymous

New member
Atypical CF just means that the mutations they have are not the most common (example Df508 being one of the most common). But, they still have cystic fibrosis. There is no way to determine the severity of their case based upon the mutations. This especially holds true when you look at 2 different people that have the exact same mutations and are at different ends of the health spectrum. There are many other factors that determine the severity such as climate, socio-economic, nutrition, and many others. And as many of us know sometimes it does not matter if every single need is met and you do everything you're supposed to do to take care of your child - they still get sick.
 
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Diana

New member
CF is one of those diseases that you just don't know what to expect. When my eldest daughter was diagnosed my whole world crashed down around me and I expected the worst. Well 4 years later she is healthy and lives a normal life (there are very few things I will hold her back from) with the exception of the daily CF routine. I now have a second daughter also with CF. As much as I would love to take away their disease it is nice to know they will be able to lean on each other.

My youngest has more digestive problems than my first so there are already signs of differences between the two even though they have the same genetic make up.
 
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Diana

New member
CF is one of those diseases that you just don't know what to expect. When my eldest daughter was diagnosed my whole world crashed down around me and I expected the worst. Well 4 years later she is healthy and lives a normal life (there are very few things I will hold her back from) with the exception of the daily CF routine. I now have a second daughter also with CF. As much as I would love to take away their disease it is nice to know they will be able to lean on each other.

My youngest has more digestive problems than my first so there are already signs of differences between the two even though they have the same genetic make up.
 
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Alyssa

New member
The previous poster is correct ? there is no way of knowing what this disease will do to people ? even identical twins with CF will/can have varying degrees of illness and symptoms. Nobody can tell you for sure what to expect?. Having said that ? there are some genes that do ?seem? to be associated with a lesser severity.

My understanding is one of the genes my kids have ( the R117H ) is one such gene. I was also told it was T-9 (being the highest function ? meaning the body is functioning at the highest (best) level it can for having a messed up gene to work with ? if that makes any since)

I'm not so sure that A typical means the mutations are not that common, I always thought it was the lack of or lesser degree of symptoms they were referring to. But I could be wrong about that. My kids genes are Delta F 508 and R117H both very common CF genes ( I think the R117H is most well known for the CBAVD ) and of course everyone has heard of DF508.

I was told by our CF doc that he was going to classify both my kids as ?mild variant, A typical CF?. I?m assuming that is because the above mentioned gene is ?mild variant? and they do not have too many classic CF symptoms ? although my daughter does have repeat lung & sinus infections and has tested positive for pseudomonas once. She has never had IV antibiotics or been hospitalized ? she does take oral antibiotic & pulmozyme and just got a vest. Both kids are pancreatic sufficient so digestion is not an issue.

So to answer your question ?do those with Atypical have as many symptoms as those with classic CF?? I?d have to say no ? that is what makes it A typical ? meaning (I think) not what we typically see.

I don?t mean to say this in a negative light ? just for information ?. But I think it could also be possible that ?A typical? can change?CF is a progressive disease ? A typical today could change next year to a mild/moderate or a sever case of CF ? it?s also entirely possible that it take another 50 years for that to progress/change or that it never changes from A typical?. Nobody can tell you for sure. So many people are being diagnosed now in their 30?s. 40?s and 50?s and never knew they had CF ? they just though they got ?bronchitis or pneumonia? a lot. Our doctor said if he had to guess, he would say what he usually sees as progression in a year, might take a decade to progress in my daughter?s case. So far he was not only correct in that statement but she has increased her lung function and been better able to manage her lung infections when they do come. (now that we know she has CF ? she was misdiagnosed at age 5 ? we didn?t get the genetic test until she was 13/14 years old) She is now 17 almost 18 years old.
 
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Alyssa

New member
The previous poster is correct ? there is no way of knowing what this disease will do to people ? even identical twins with CF will/can have varying degrees of illness and symptoms. Nobody can tell you for sure what to expect?. Having said that ? there are some genes that do ?seem? to be associated with a lesser severity.

My understanding is one of the genes my kids have ( the R117H ) is one such gene. I was also told it was T-9 (being the highest function ? meaning the body is functioning at the highest (best) level it can for having a messed up gene to work with ? if that makes any since)

I'm not so sure that A typical means the mutations are not that common, I always thought it was the lack of or lesser degree of symptoms they were referring to. But I could be wrong about that. My kids genes are Delta F 508 and R117H both very common CF genes ( I think the R117H is most well known for the CBAVD ) and of course everyone has heard of DF508.

I was told by our CF doc that he was going to classify both my kids as ?mild variant, A typical CF?. I?m assuming that is because the above mentioned gene is ?mild variant? and they do not have too many classic CF symptoms ? although my daughter does have repeat lung & sinus infections and has tested positive for pseudomonas once. She has never had IV antibiotics or been hospitalized ? she does take oral antibiotic & pulmozyme and just got a vest. Both kids are pancreatic sufficient so digestion is not an issue.

So to answer your question ?do those with Atypical have as many symptoms as those with classic CF?? I?d have to say no ? that is what makes it A typical ? meaning (I think) not what we typically see.

I don?t mean to say this in a negative light ? just for information ?. But I think it could also be possible that ?A typical? can change?CF is a progressive disease ? A typical today could change next year to a mild/moderate or a sever case of CF ? it?s also entirely possible that it take another 50 years for that to progress/change or that it never changes from A typical?. Nobody can tell you for sure. So many people are being diagnosed now in their 30?s. 40?s and 50?s and never knew they had CF ? they just though they got ?bronchitis or pneumonia? a lot. Our doctor said if he had to guess, he would say what he usually sees as progression in a year, might take a decade to progress in my daughter?s case. So far he was not only correct in that statement but she has increased her lung function and been better able to manage her lung infections when they do come. (now that we know she has CF ? she was misdiagnosed at age 5 ? we didn?t get the genetic test until she was 13/14 years old) She is now 17 almost 18 years old.
 
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Alyssa

New member
Sorry about the questions marks -- I don't know why this site sometimes changes the apostrophe to a question mark?????? anyway -- that's what they are supposed to be -- apostrophes.
 
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Alyssa

New member
Sorry about the questions marks -- I don't know why this site sometimes changes the apostrophe to a question mark?????? anyway -- that's what they are supposed to be -- apostrophes.
 
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Diana

New member
True. To go into the 5 levels of gene explanation it might be wise to read the following link. It is an in depth explanation of many CF issues including the gene classifications.

<a target=new class=ftalternatingbarlinklarge href="http://www.emedicine.com/radio/topic204.htm">http://www.emedicine.com/radio/topic204.htm</a>

I personally think you need a degree to fully understand the way the genes work for example in a CF carrier they have one healthy gene which dominates the abnormal allowing the person to have normal lung function etc. So in a person with CF is there a dominant mutation which takes over or do they both come into play? So many questions.....and at some point I WILL find out the answers! I just don't know them yet. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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Diana

New member
True. To go into the 5 levels of gene explanation it might be wise to read the following link. It is an in depth explanation of many CF issues including the gene classifications.

<a target=new class=ftalternatingbarlinklarge href="http://www.emedicine.com/radio/topic204.htm">http://www.emedicine.com/radio/topic204.htm</a>

I personally think you need a degree to fully understand the way the genes work for example in a CF carrier they have one healthy gene which dominates the abnormal allowing the person to have normal lung function etc. So in a person with CF is there a dominant mutation which takes over or do they both come into play? So many questions.....and at some point I WILL find out the answers! I just don't know them yet. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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