Diagnosed as an adult

[Tisha]

My father has always had a few symptoms (low tolerance to heat/sun exposure suggests high saline sweat, non-proper digestion, mild respiratory issues) but he was tested carrier, "carrier with symptoms" they said in the early 20s. My aunt (father's side) has had a couple respiratory symptoms but is otherwise asymptomatic. My uncle (mother's side) has the full sheebang of symptoms (digestive, "asthma", recurrent infections, even wide fingers) but has been tested twice as just a carrier.
Ie, you may be a carrier with symptoms but be tested negative.

 

[Tisha]

My father has always had a few symptoms (low tolerance to heat/sun exposure suggests high saline sweat, non-proper digestion, mild respiratory issues) but he was tested carrier, "carrier with symptoms" they said in the early 20s. My aunt (father's side) has had a couple respiratory symptoms but is otherwise asymptomatic. My uncle (mother's side) has the full sheebang of symptoms (digestive, "asthma", recurrent infections, even wide fingers) but has been tested twice as just a carrier.
Ie, you may be a carrier with symptoms but be tested negative.

 

[MichaelL]

I had lung issues my whole life, but was treated for asthma. In my 30's, I was starting to get frequent sinus/lung infections that generally cleared up with antibiotics. When I was 34, I got a lung infection that would not clear up. I was finally diagnosed with CF based on a DNA test. Sweat tests show up negative for me. I am pancreatic sufficient, so my main issues are lung related.

 

[MichaelL]

I had lung issues my whole life, but was treated for asthma. In my 30's, I was starting to get frequent sinus/lung infections that generally cleared up with antibiotics. When I was 34, I got a lung infection that would not clear up. I was finally diagnosed with CF based on a DNA test. Sweat tests show up negative for me. I am pancreatic sufficient, so my main issues are lung related.

 

[gunelle]

I'm a bit confused as why some say that Shannon cannot have CF because her eldest is not a carrier. I have CF and have three older brothers ( one's passed away) and while none of them have been tested, although I've asked them to, they can all have two good genes, or all be carriers of one bad gene, or as me have two bad genes -that's how I've understood it. One of of four chances of having CF... Shannon I have almost the same mutations as ur son, and was diagnosed at 32, the 117 gene is a "mild" one, so chances re that u might have CF... I understand how u feel, being a adult diagnosis. All the best.

 

[gunelle]

I'm a bit confused as why some say that Shannon cannot have CF because her eldest is not a carrier. I have CF and have three older brothers ( one's passed away) and while none of them have been tested, although I've asked them to, they can all have two good genes, or all be carriers of one bad gene, or as me have two bad genes -that's how I've understood it. One of of four chances of having CF... Shannon I have almost the same mutations as ur son, and was diagnosed at 32, the 117 gene is a "mild" one, so chances re that u might have CF... I understand how u feel, being a adult diagnosis. All the best.

 

[mb1315]

I am brand new to this site. My daughter who is 29 and pregnant was just diagnosed with CF 2 days ago. She was diagnosed with allergies and asthma at age 10 but not really bad problems until around 18 and then was diagnosed with Allergic Brochial Pulmonary Disease. Then she started getting pancreatitis. They said she drank too much (which she did not) and then they said it was her gall bladder and removed that. She can sometimes go a long time without pancreatitis. Her lung doctor did a 33 gene blood test on her 2 yrs. ago and only 1 mutation came back, so he wanted her to get the sweat test but she lost her insurance and couldn't do it. Now the baby doctor saw her records and the fetal specialist wanted her to get tested again. They did a 97 mutation test and then 2 came back. She has been misdiagnosed so many times it is unbelievable. At this point in time she is unemployed and state medical insurance because of the baby. Going next week to get the baby tested. She has a 7 yr. daughter by a different person and she is fine. This is all a nightmare and I am trying to wrap my head around all of this and find out about it as much as I can. We were told she has a mild case of it, but then someone told me there is no such thing. Is that true. Also we live in Vancouver Washington and are supposed to go to OHSU CF clinic and I just heard that they are not a good clinic and that Seattle, Washington is better. Anyone in this area to help me on this one.

 

[mb1315]

I am brand new to this site. My daughter who is 29 and pregnant was just diagnosed with CF 2 days ago. She was diagnosed with allergies and asthma at age 10 but not really bad problems until around 18 and then was diagnosed with Allergic Brochial Pulmonary Disease. Then she started getting pancreatitis. They said she drank too much (which she did not) and then they said it was her gall bladder and removed that. She can sometimes go a long time without pancreatitis. Her lung doctor did a 33 gene blood test on her 2 yrs. ago and only 1 mutation came back, so he wanted her to get the sweat test but she lost her insurance and couldn't do it. Now the baby doctor saw her records and the fetal specialist wanted her to get tested again. They did a 97 mutation test and then 2 came back. She has been misdiagnosed so many times it is unbelievable. At this point in time she is unemployed and state medical insurance because of the baby. Going next week to get the baby tested. She has a 7 yr. daughter by a different person and she is fine. This is all a nightmare and I am trying to wrap my head around all of this and find out about it as much as I can. We were told she has a mild case of it, but then someone told me there is no such thing. Is that true. Also we live in Vancouver Washington and are supposed to go to OHSU CF clinic and I just heard that they are not a good clinic and that Seattle, Washington is better. Anyone in this area to help me on this one.

 

[Havoc]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>gunelle</b></i> I'm a bit confused as why some say that Shannon cannot have CF because her eldest is not a carrier. I have CF and have three older brothers ( one's passed away) and while none of them have been tested, although I've asked them to, they can all have two good genes, or all be carriers of one bad gene, or as me have two bad genes -that's how I've understood it. One of of four chances of having CF... Shannon I have almost the same mutations as ur son, and was diagnosed at 32, the 117 gene is a "mild" one, so chances re that u might have CF... I understand how u feel, being a adult diagnosis. All the best.</end quote>

Right, because your parents were carriers (one dominant and one recessive gene). There's a 25% chance of having a child with 2 dominant genes, 50% chance of having a carrier and 25% chance of having a child with CF.
If Shannon were to have CF, and therefore 2 recessive genes and her husband was a carrier, they would have a 50% chance of having a child with CF and a 50% chance of having a child who was a carrier. It would be impossible for them to have a child that's homozygous dominate.

 

[Havoc]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>gunelle</b></i> I'm a bit confused as why some say that Shannon cannot have CF because her eldest is not a carrier. I have CF and have three older brothers ( one's passed away) and while none of them have been tested, although I've asked them to, they can all have two good genes, or all be carriers of one bad gene, or as me have two bad genes -that's how I've understood it. One of of four chances of having CF... Shannon I have almost the same mutations as ur son, and was diagnosed at 32, the 117 gene is a "mild" one, so chances re that u might have CF... I understand how u feel, being a adult diagnosis. All the best.</end quote>

Right, because your parents were carriers (one dominant and one recessive gene). There's a 25% chance of having a child with 2 dominant genes, 50% chance of having a carrier and 25% chance of having a child with CF.
If Shannon were to have CF, and therefore 2 recessive genes and her husband was a carrier, they would have a 50% chance of having a child with CF and a 50% chance of having a child who was a carrier. It would be impossible for them to have a child that's homozygous dominate.

 

[rtorres25]

I was diagnosed at 38 after battling respiratory issues all my life ("asthma, allergy, bronchiectisas"). The diagnosis was a Godsend and a definite miracle, b/c I had seen Dr's all my life. It has made such a difference to have access to the right meds and care. I kinda had your attitude bf my last attempt at testing, bc I had been fighting this all my life and didn't think there was a chance for a real change. How about the genetic testing instead of Sweat Chloride. With the new databases CF Services is trying to maintain, I wonder if there would be assistance for the cost? Good Luck!

 

[rtorres25]

I was diagnosed at 38 after battling respiratory issues all my life ("asthma, allergy, bronchiectisas"). The diagnosis was a Godsend and a definite miracle, b/c I had seen Dr's all my life. It has made such a difference to have access to the right meds and care. I kinda had your attitude bf my last attempt at testing, bc I had been fighting this all my life and didn't think there was a chance for a real change. How about the genetic testing instead of Sweat Chloride. With the new databases CF Services is trying to maintain, I wonder if there would be assistance for the cost? Good Luck!

 

[searchingforanswers]

I remember being 15 years old and reading an article about a CF researcher with a diagnosis but only mild symptoms until after he reached 30...and I suddenly realized his story sounded like mine. The colds that take forever to go away, the craving for salt, the congestion you can't get rid of, the lingering cough, the mild digestive issues that are all over the family. CF was always this terrifying disease that my brother and I were to "well" to have and birth testing only recently got approved in our state. (many years to late to peg us) I'd been waiting for all the newborn testing because I knew it was only a matter of time before the definitions were expanded to include those with non-typical disease and to get insurance. I just went through allergy testing (my last real hope for a non-CF explanation and only got a "1" on dust and negative on everything else they actually tested) So the next stop is a gastro specialist or else a ENT...or walk directly into a CF center and ask to be seen (preferably one who understands the milder/late "onset" forms and will give me a real evaluation) I told the allergist what I suspected and he told me I don't "want" the diagnosis but did offer to send me for a sweat test...not sure if I should go through him or walk in to a CF center directly. The new insurance is a POS plan. I don;t even have a primary care physician yet...my insurance is that new and I'm terrified out of my mind but I've been in limbo (and surviving on musinex...which is a fabulous drug) for YEARS. A few years back I got bad enough to need a nebulizer (they said Asthma/RAD but never really tested and I had a chest x-ray that said chronic bronchitis)...but bactrin finally helped and I've been doing good the past few years. I worry about long term lung damage though and have never been cultured so who knows what is in there. I feel blessed and lucky that my situation is milder then so many others but this is a progressive condition and I don't really want to wait until I'm so sick the need for testing is obvious...I'd prefer to prevent the progressive damage and if I'm very lucky maybe stay "mild" my entire life.

I've done so much research over the years and learned so many tools to help my body...but it doesn't change the fact that staying well is an uphill battle...always, and I'm very tired of doing it without proper tools.

Anyway, for anyone suspecting CF yes there are "mild" or "delayed" forms of it, there are also symptomatic carriers, there is also a similar condition called primary cilliary dyskinesia.

For anyone who walked in to a clinic and asked for testing how did you do it, and how much did it cost...and for those of us waffling, including me, I'm getting tested once and for all...just trying to do it in the way that doesn't slap me with a giant bill and with a center that will look at non-classic patients...and hopfully get an answer<sigh>

 

[searchingforanswers]

I remember being 15 years old and reading an article about a CF researcher with a diagnosis but only mild symptoms until after he reached 30...and I suddenly realized his story sounded like mine. The colds that take forever to go away, the craving for salt, the congestion you can't get rid of, the lingering cough, the mild digestive issues that are all over the family. CF was always this terrifying disease that my brother and I were to "well" to have and birth testing only recently got approved in our state. (many years to late to peg us) I'd been waiting for all the newborn testing because I knew it was only a matter of time before the definitions were expanded to include those with non-typical disease and to get insurance. I just went through allergy testing (my last real hope for a non-CF explanation and only got a "1" on dust and negative on everything else they actually tested) So the next stop is a gastro specialist or else a ENT...or walk directly into a CF center and ask to be seen (preferably one who understands the milder/late "onset" forms and will give me a real evaluation) I told the allergist what I suspected and he told me I don't "want" the diagnosis but did offer to send me for a sweat test...not sure if I should go through him or walk in to a CF center directly. The new insurance is a POS plan. I don;t even have a primary care physician yet...my insurance is that new and I'm terrified out of my mind but I've been in limbo (and surviving on musinex...which is a fabulous drug) for YEARS. A few years back I got bad enough to need a nebulizer (they said Asthma/RAD but never really tested and I had a chest x-ray that said chronic bronchitis)...but bactrin finally helped and I've been doing good the past few years. I worry about long term lung damage though and have never been cultured so who knows what is in there. I feel blessed and lucky that my situation is milder then so many others but this is a progressive condition and I don't really want to wait until I'm so sick the need for testing is obvious...I'd prefer to prevent the progressive damage and if I'm very lucky maybe stay "mild" my entire life.

I've done so much research over the years and learned so many tools to help my body...but it doesn't change the fact that staying well is an uphill battle...always, and I'm very tired of doing it without proper tools.

Anyway, for anyone suspecting CF yes there are "mild" or "delayed" forms of it, there are also symptomatic carriers, there is also a similar condition called primary cilliary dyskinesia.

For anyone who walked in to a clinic and asked for testing how did you do it, and how much did it cost...and for those of us waffling, including me, I'm getting tested once and for all...just trying to do it in the way that doesn't slap me with a giant bill and with a center that will look at non-classic patients...and hopfully get an answer<sigh>

 

[LittleLab4CF]

These days before I submit to a medical test or such, I ask the doctor if there is anything actionable that can be done based on a test or diagnostic procedure. With a child diagnosed with CF you know at least you are a carrier. I know a lot about genetics and I find that "carriers" may or may not exhibit CF. My research tells me genetic testing for CF is not yet fully vetted. My first genetic test for CF was negative. After some discussion with the Genetics firm, the test was repeated with more data this time characterized as a carrier. I knew I had CF but waited a few years since my less than convincing results were twelve years ago. Flash, third test says I have full blown CF. The bottom line is action. I say, save your money, take CF vitamins, after you tire of gall bladder attacks and/or pancreatitis, have your gall bladder removed, make the usual CF tests part of your healthcare. Knowing you are a CF carrier or if by chance you have CF. Gives you no specific options you don't already have. Don't smoke, take vitamins and don't take more than a small amount of alcohol.

 

[LittleLab4CF]

These days before I submit to a medical test or such, I ask the doctor if there is anything actionable that can be done based on a test or diagnostic procedure. With a child diagnosed with CF you know at least you are a carrier. I know a lot about genetics and I find that "carriers" may or may not exhibit CF. My research tells me genetic testing for CF is not yet fully vetted. My first genetic test for CF was negative. After some discussion with the Genetics firm, the test was repeated with more data this time characterized as a carrier. I knew I had CF but waited a few years since my less than convincing results were twelve years ago. Flash, third test says I have full blown CF. The bottom line is action. I say, save your money, take CF vitamins, after you tire of gall bladder attacks and/or pancreatitis, have your gall bladder removed, make the usual CF tests part of your healthcare. Knowing you are a CF carrier or if by chance you have CF. Gives you no specific options you don't already have. Don't smoke, take vitamins and don't take more than a small amount of alcohol.

 

[LittleLab4CF]

These days before I submit to a medical test or such, I ask the doctor if there is anything actionable that can be done based on a test or diagnostic procedure. With a child diagnosed with CF you know at least you are a carrier. I know a lot about genetics and I find that "carriers" may or may not exhibit CF. My research tells me genetic testing for CF is not yet fully vetted. My first genetic test for CF was negative. After some discussion with the Genetics firm, the test was repeated with more data this time characterized as a carrier. I knew I had CF but waited a few years since my less than convincing results were twelve years ago. Flash, third test says I have full blown CF. The bottom line is action. I say, save your money, take CF vitamins, after you tire of gall bladder attacks and/or pancreatitis, have your gall bladder removed, make the usual CF tests part of your healthcare. Knowing you are a CF carrier or if by chance you have CF. Gives you no specific options you don't already have. Don't smoke, take vitamins and don't take more than a small amount of alcohol.

 

[LittleLab4CF]

These days before I submit to a medical test or such, I ask the doctor if there is anything actionable that can be done based on a test or diagnostic procedure. With a child diagnosed with CF you know at least you are a carrier. I know a lot about genetics and I find that "carriers" may or may not exhibit CF. My research tells me genetic testing for CF is not yet fully vetted. My first genetic test for CF was negative. After some discussion with the Genetics firm, the test was repeated with more data this time characterized as a carrier. I knew I had CF but waited a few years since my less than convincing results were twelve years ago. Flash, third test says I have full blown CF. The bottom line is action. I say, save your money, take CF vitamins, after you tire of gall bladder attacks and/or pancreatitis, have your gall bladder removed, make the usual CF tests part of your healthcare. Knowing you are a CF carrier or if by chance you have CF. Gives you no specific options you don't already have. Don't smoke, take vitamins and don't take more than a small amount of alcohol.

 

[JennifersHope]

I was diagnosed with CF at the age of 29. Via positive sweat tests, and one gene that showed DF508. Years later when I switched centers which was the hell experience of my life I was completely undiagnosed with CF based on one negative Nasal PD...in spite of having the full genetic work up and they found a second Undescribed gene. I has DIOS, pancreatic issues and cultured Pa and MRSA and NTM on and off

Thank God I went to National Jewish Hospital and I was finally figured out...for all the people who say ther is no such thing as a typical CF you are wrong. They are actually seeing people I their 50's and 60's that are finally showing signs of lung disease.

I was rediagnosed as CF but my lungs are in good shape....we are going to try to keep them that way..plus I have a ton of other issues that are causing an appearance that CF is making me sicker the. It is.


My point is...if you are a complicated case...ghetto a center where they understand CF outside the realm of a typical presentation ....it saved my life...not the CF part but just straightening it all out and get the proper medical treatment I need for my airways!!!!


Don't settle for average care ever!!

 

[JennifersHope]

I was diagnosed with CF at the age of 29. Via positive sweat tests, and one gene that showed DF508. Years later when I switched centers which was the hell experience of my life I was completely undiagnosed with CF based on one negative Nasal PD...in spite of having the full genetic work up and they found a second Undescribed gene. I has DIOS, pancreatic issues and cultured Pa and MRSA and NTM on and off

Thank God I went to National Jewish Hospital and I was finally figured out...for all the people who say ther is no such thing as a typical CF you are wrong. They are actually seeing people I their 50's and 60's that are finally showing signs of lung disease.

I was rediagnosed as CF but my lungs are in good shape....we are going to try to keep them that way..plus I have a ton of other issues that are causing an appearance that CF is making me sicker the. It is.


My point is...if you are a complicated case...ghetto a center where they understand CF outside the realm of a typical presentation ....it saved my life...not the CF part but just straightening it all out and get the proper medical treatment I need for my airways!!!!


Don't settle for average care ever!!