Late Diagnosis of atypical or "variant" CF questions-late onset PI?

R

Ringer

New member
Hello,
I am looking for help. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I just received my results from a standard mutation screen (50 mutations?) and they were negative. I would think this would be good, but I'm still without answers. I am feeling a bit lost<img src="i/expressions/face-icon-small-sad.gif" border="0">
History:
Asthma diagnosed in infancy. No family history of asthma but cousin on father's side has "mild" CF (Sorry, I know the term is controversial, but this is what she calls it). I am not able to find out her mutation. Never responded to traditonal asthma medications, mother was told to perform CPT. As an adult I now use Ventolin, HyperSal7% , exercise, and CPT for airway clearance (but hopefully will be getting a flutter soon).
Pneumonia, lung infections, mycobacterium, etc. throughout life (not working and not being in school reduced the incidence). I am currently not working (which I absolutely hate) but my health is always better when I don't. <img src="i/expressions/face-icon-small-sad.gif" border="0">
I consider my lung disease (whatever it is) to be "mild" as my lungs are still overall in good shape. Can't say how or why!
Chronic sinus infections. This current one has been a real doozy complete with my eyes swelling and a fever. Mucus is always thick, yada yada...
Diagnosed with "silent" chronic pancreatitis (indication was panceatic insufficiency and malnutrition/low fat soluable vitamin deficiency) in 20s, around the same time my asthma became more "symptomatic" (I now have a productive cough at least once or twice most days-there'd better be a sink nearby when I'm laughing <img src="i/expressions/face-icon-small-smile.gif" border="0">. I was hospitalized for IV nutrition. I am now completely pancreatic insufficient at almost 30. I have been on a high calorie diet for as long as I can remember. I look somewhat thin (especially if I slack on my diet) but still "average" weight. My problem is just keeping weight on, not so much having to gain weight.
My exhaled nitric oxide test was slightly below normal, which I was told makes asthma unlikely. I was told to book a sweat test through my GP (my mother thinks I had one as a child, but it was borderline). I am calling my doctor Monday to book it.
My sinus and lung symptoms are "mild" (butseem to be getting more symptomatic), but my pancreas is pretty much kaput since my mid 20. I need Creon to eat everything but fruit and some candies.
I tend to have low electrolyte levels, so I take extra salt and potassium.
For any of those with an adult late diagnosis (particularily with complete PI), could you please tell me your mutations? How were you diagnosed? What were your sweat test values? Did you always have mild or atypical symptoms? Or did your symptoms suddenly appear later in life?
Right now I think the genetics clinic doesn't know what to do with me and securing a diagnosis (if it IS in fact variant CF) would really help because then my vitamins, flutter, HyperSal, etc. would be paid for (right now all I get covered is Creon. If someone can help me that would be great. Sorry for the long first post! This is my first time ever posting on a CF forum, and I'm feeling really lost and confused. <img src="i/expressions/face-icon-small-sad.gif" border="0">
 
R

Ringer

New member
Hello,
I am looking for help. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I just received my results from a standard mutation screen (50 mutations?) and they were negative. I would think this would be good, but I'm still without answers. I am feeling a bit lost<img src="i/expressions/face-icon-small-sad.gif" border="0">
History:
Asthma diagnosed in infancy. No family history of asthma but cousin on father's side has "mild" CF (Sorry, I know the term is controversial, but this is what she calls it). I am not able to find out her mutation. Never responded to traditonal asthma medications, mother was told to perform CPT. As an adult I now use Ventolin, HyperSal7% , exercise, and CPT for airway clearance (but hopefully will be getting a flutter soon).
Pneumonia, lung infections, mycobacterium, etc. throughout life (not working and not being in school reduced the incidence). I am currently not working (which I absolutely hate) but my health is always better when I don't. <img src="i/expressions/face-icon-small-sad.gif" border="0">
I consider my lung disease (whatever it is) to be "mild" as my lungs are still overall in good shape. Can't say how or why!
Chronic sinus infections. This current one has been a real doozy complete with my eyes swelling and a fever. Mucus is always thick, yada yada...
Diagnosed with "silent" chronic pancreatitis (indication was panceatic insufficiency and malnutrition/low fat soluable vitamin deficiency) in 20s, around the same time my asthma became more "symptomatic" (I now have a productive cough at least once or twice most days-there'd better be a sink nearby when I'm laughing <img src="i/expressions/face-icon-small-smile.gif" border="0">. I was hospitalized for IV nutrition. I am now completely pancreatic insufficient at almost 30. I have been on a high calorie diet for as long as I can remember. I look somewhat thin (especially if I slack on my diet) but still "average" weight. My problem is just keeping weight on, not so much having to gain weight.
My exhaled nitric oxide test was slightly below normal, which I was told makes asthma unlikely. I was told to book a sweat test through my GP (my mother thinks I had one as a child, but it was borderline). I am calling my doctor Monday to book it.
My sinus and lung symptoms are "mild" (butseem to be getting more symptomatic), but my pancreas is pretty much kaput since my mid 20. I need Creon to eat everything but fruit and some candies.
I tend to have low electrolyte levels, so I take extra salt and potassium.
For any of those with an adult late diagnosis (particularily with complete PI), could you please tell me your mutations? How were you diagnosed? What were your sweat test values? Did you always have mild or atypical symptoms? Or did your symptoms suddenly appear later in life?
Right now I think the genetics clinic doesn't know what to do with me and securing a diagnosis (if it IS in fact variant CF) would really help because then my vitamins, flutter, HyperSal, etc. would be paid for (right now all I get covered is Creon. If someone can help me that would be great. Sorry for the long first post! This is my first time ever posting on a CF forum, and I'm feeling really lost and confused. <img src="i/expressions/face-icon-small-sad.gif" border="0">
 
J

JustDucky

New member
Late Diagnosis of atypical or

First of all, you did not get the most complete genetic testing there is for CF....from what I understand, there are over 1600 mutations out there. Both Ambry and Quest labs performs this particular test that covers all known CF mutations. If I were you, I would push for that test as well as the sweat test. Also, you should get your sweat test done at a CF accredited center. Those facilities do them day in and day out and have the technique down to a science. I would believe a result from a CF facility over a local hospital any day for that reason, they simply do more of them than a non CF hospital would do.

With all this being said, I am a late dx at 33. To be honest, I really don't know my mutations ( I will have to dig them up next time I see my doc)...I have one known mutation and my other is a variant or polymorphism that is questionable as far as being disease causing. All I know is that they aren't common and it took the 1600 mutation panel from Quest to find them. My initial sweat tests were 48 and then 50, so borderline.. But, I have many symptoms...mostly lung but I also have digestive (mild PI). I was also considered asthmatic, very severe in my 20's. I was in and out of hospitals 3-4 times a year admitted with pneumonia, severe bronchitis with asthmatic component etc...and treated with IV's for about a week and then sent home. Amazingly, they never did sputum cultures, they just treated me empirically with broad spectrum antibiotics and prayed that they would work. If they had done cultures, I know that my PA and other bugs commonly found in CF'ers would have been detected far earlier than they were.

In fact, that is what finally got the ball rolling towards a CF dx. My new GP cultured me and I had B cepacia and PA in my sputum. I have other serious pulmonary issues besides CF, but even so, these bugs did not belong there! I also had terrible digestion issues at that time, I was losing weight very easily and I became diabetic. My stools also floated. Blood tests revealed that I was severely deficient in my ADEK's...all of my fat soluble vitamins, and so I was diagnosed with malnutrition and I was not absorbing my vitamins. My very smart GP immediately started me on Creon. It did not take long for me to improve and feel better in that respect.

I have never been "classic" as far as symptoms go in the past....that is why my diagnosis was so late. I was treated for asthma or bronchitis. These days, I would be considered to be more classic though as my lungs have progressed and am on the typical CF medications (Hypersal 7%,pulmozyme, vest twice a day, colistin nebs, duonebs, enzymes, vits AD and E etc) Ever since I started treatment, I have felt better but still require frequent IV's (again, because I have progressed).

Definitely keep at it, don't give up until you are satisfied with your answers. Atypical CF is such a grey area and not all centers come to the same conclusion regarding diagnosis. If you feel like you have been brushed off, just go to another center to get their opinion.

Good luck...and hang in there!

Jenn 40 w/CF
 
J

JustDucky

New member
Late Diagnosis of atypical or

First of all, you did not get the most complete genetic testing there is for CF....from what I understand, there are over 1600 mutations out there. Both Ambry and Quest labs performs this particular test that covers all known CF mutations. If I were you, I would push for that test as well as the sweat test. Also, you should get your sweat test done at a CF accredited center. Those facilities do them day in and day out and have the technique down to a science. I would believe a result from a CF facility over a local hospital any day for that reason, they simply do more of them than a non CF hospital would do.

With all this being said, I am a late dx at 33. To be honest, I really don't know my mutations ( I will have to dig them up next time I see my doc)...I have one known mutation and my other is a variant or polymorphism that is questionable as far as being disease causing. All I know is that they aren't common and it took the 1600 mutation panel from Quest to find them. My initial sweat tests were 48 and then 50, so borderline.. But, I have many symptoms...mostly lung but I also have digestive (mild PI). I was also considered asthmatic, very severe in my 20's. I was in and out of hospitals 3-4 times a year admitted with pneumonia, severe bronchitis with asthmatic component etc...and treated with IV's for about a week and then sent home. Amazingly, they never did sputum cultures, they just treated me empirically with broad spectrum antibiotics and prayed that they would work. If they had done cultures, I know that my PA and other bugs commonly found in CF'ers would have been detected far earlier than they were.

In fact, that is what finally got the ball rolling towards a CF dx. My new GP cultured me and I had B cepacia and PA in my sputum. I have other serious pulmonary issues besides CF, but even so, these bugs did not belong there! I also had terrible digestion issues at that time, I was losing weight very easily and I became diabetic. My stools also floated. Blood tests revealed that I was severely deficient in my ADEK's...all of my fat soluble vitamins, and so I was diagnosed with malnutrition and I was not absorbing my vitamins. My very smart GP immediately started me on Creon. It did not take long for me to improve and feel better in that respect.

I have never been "classic" as far as symptoms go in the past....that is why my diagnosis was so late. I was treated for asthma or bronchitis. These days, I would be considered to be more classic though as my lungs have progressed and am on the typical CF medications (Hypersal 7%,pulmozyme, vest twice a day, colistin nebs, duonebs, enzymes, vits AD and E etc) Ever since I started treatment, I have felt better but still require frequent IV's (again, because I have progressed).

Definitely keep at it, don't give up until you are satisfied with your answers. Atypical CF is such a grey area and not all centers come to the same conclusion regarding diagnosis. If you feel like you have been brushed off, just go to another center to get their opinion.

Good luck...and hang in there!

Jenn 40 w/CF
 
R

Ringer

New member
Late Diagnosis of atypical or

Thanks Just Ducky. You are so right, atypical cases seem to present such a challenge. My genetics clinic seems to be confused with me because the screen came back negative. They said if I came back with at least one mutation they'd refer me to a pulmonologist. As far as I know, they are NOT an accredited CF centre. CF has been mentioned by the odd doctor here and there, but I feel like I was then fobbed off because "well, kids with CF don't live long". As I can see on this forum, they most certainly do. <img src="i/expressions/face-icon-small-smile.gif" border="0">

When confirming my PI, my gastro seemed to give me the impression that he doubted that I was an "infrequent" social drinker (some of my liver enzymes are also high at times-it's now suspected I have gallstones). I am quite sure CF was not on his radar. I think I am one of the only of his patients to actually require a Creon Rx, and if not, I highly suspect the others were great fans of the Pabst. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Thanks for the insight-I really want a diagnosis in either direction. I think I will go ahead with the sweat test and also a full Ambry or Quest pannel. I thought I'd be terrified of a diagnosis, but really it will be a relief. My mucus has always been sticky and thick (often with productive cough), but yet my tests/med trials for asthma, COPD, etc. don't support that diagnosis. You made a great point about getting a culture done-I think I had one done in hospital years ago (I did beat that infection), but nothing recently. Since I've started to have more symptoms as I get older (yikes) it may be worth my while to demand one.

Keep fighting. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Thanks for sharing!
 
R

Ringer

New member
Late Diagnosis of atypical or

Thanks Just Ducky. You are so right, atypical cases seem to present such a challenge. My genetics clinic seems to be confused with me because the screen came back negative. They said if I came back with at least one mutation they'd refer me to a pulmonologist. As far as I know, they are NOT an accredited CF centre. CF has been mentioned by the odd doctor here and there, but I feel like I was then fobbed off because "well, kids with CF don't live long". As I can see on this forum, they most certainly do. <img src="i/expressions/face-icon-small-smile.gif" border="0">

When confirming my PI, my gastro seemed to give me the impression that he doubted that I was an "infrequent" social drinker (some of my liver enzymes are also high at times-it's now suspected I have gallstones). I am quite sure CF was not on his radar. I think I am one of the only of his patients to actually require a Creon Rx, and if not, I highly suspect the others were great fans of the Pabst. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Thanks for the insight-I really want a diagnosis in either direction. I think I will go ahead with the sweat test and also a full Ambry or Quest pannel. I thought I'd be terrified of a diagnosis, but really it will be a relief. My mucus has always been sticky and thick (often with productive cough), but yet my tests/med trials for asthma, COPD, etc. don't support that diagnosis. You made a great point about getting a culture done-I think I had one done in hospital years ago (I did beat that infection), but nothing recently. Since I've started to have more symptoms as I get older (yikes) it may be worth my while to demand one.

Keep fighting. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Thanks for sharing!
 
P

Printer

Active member
Late Diagnosis of atypical or

Ringer:

My fev1 is in the upper 70s but I'm completly PI. You need to get to a APPROVED CF CENTER ASAP. Trust me, non CF Doctors don't have a clue about CF.

Bill
 
P

Printer

Active member
Late Diagnosis of atypical or

Ringer:

My fev1 is in the upper 70s but I'm completly PI. You need to get to a APPROVED CF CENTER ASAP. Trust me, non CF Doctors don't have a clue about CF.

Bill
 
R

Ringer

New member
Thanks Printer...I am rather quickly seeing what you mean. Since my symptoms have progressed, and I am responding to my new treatments, I am no longer willing to be dismissed. After doing my own research here, I believe that my referral for care shouldn't depend solely on if I have a "common" mutation(s) or not. I get the impression that my clinic doesn't consider "atypical" CF as serious a disease. The problem is, no one can say for certain how a person will fare with ANY given mutations, including the less common ones. I can only imagine how hard it has been for those here with an "atypical" or late dx. Perhaps it's true, that some cases remain "mild" but I highly suspect others suffer a lot of preventable damage and distress by the time a doctor realized that CF should be a differential dx. I work so hard to stay healthy (exercise, CPT, healthy high calorie diet, never forget my enzymes, vitamins, etc.) and I'd hate to lose lung function I don't need to lose. I suspect I may have to fight a bit for the full CFTR sequence pannel, but it sounds like a good next step (along with the sweat test). Looking into where the nearest CF centre would be. Apparently the person doing the sweat test at my hospital is an RT. Is it common for an RT to perform/be trained to administersweat tests?
 
R

Ringer

New member
Thanks Printer...I am rather quickly seeing what you mean. Since my symptoms have progressed, and I am responding to my new treatments, I am no longer willing to be dismissed. After doing my own research here, I believe that my referral for care shouldn't depend solely on if I have a "common" mutation(s) or not. I get the impression that my clinic doesn't consider "atypical" CF as serious a disease. The problem is, no one can say for certain how a person will fare with ANY given mutations, including the less common ones. I can only imagine how hard it has been for those here with an "atypical" or late dx. Perhaps it's true, that some cases remain "mild" but I highly suspect others suffer a lot of preventable damage and distress by the time a doctor realized that CF should be a differential dx. I work so hard to stay healthy (exercise, CPT, healthy high calorie diet, never forget my enzymes, vitamins, etc.) and I'd hate to lose lung function I don't need to lose. I suspect I may have to fight a bit for the full CFTR sequence pannel, but it sounds like a good next step (along with the sweat test). Looking into where the nearest CF centre would be. Apparently the person doing the sweat test at my hospital is an RT. Is it common for an RT to perform/be trained to administersweat tests?
 
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