Can an adult have cystic fibrosis without knowing it already?

[lollygotadverbs]

Hi everyone!

So, lately I've been dealing with a few troubling symptoms. Extreme shortness of breath, particularly when I exercise. My whole life I've felt this, but it's gotten extremely bad in the last 5 or so months, to the point where I haven't been able to go to the gym at all. I used to run every day, but I feel like I am going to throw up or pass out after very little time and can't catch my breath. About 3 months ago, I started having severe abdominal pain that is generally constant, though there are periods of time where it's much worse, to the point where I have to just lie down and wait for it to stop. I've also had both extreme diarrhea and extreme constipation with no explanation for either in my diet or lifestyle. I've been to the doctor many times, had a few scans, and I've seen a GI. No clue what could be causing any of this stuff, and no one seems to think the breathing and abdominal pain could be related. The scans showed two small fatty lumps in my liver and a slightly distended gallbladder, but I was told there was nothing of concern. I also had a brain scan after I passed out, and nothing was seen in my brain, but a sinus infection or buildup was noted. No one said anything, I actually only found out from looking at the notes in the online portal.

The reason I ended up thinking about cystic fibrosis is because I passed an oily stool earlier, which was new for me. I saw cystic fibrosis, and it makes a lot of sense to me. I've struggled a lot with sinus issues, especially lately. My left ear has felt clogged, and the sinuses on that side of my face have been painful for several weeks now. And I've gotten sinus headaches every couple of months for...I can't even remember when those started. The breathing thing is the most troubling to me. It feels like I just can't catch a full breath, no matter what I do sometimes. Sometimes it's fine, but there will be periods of time where it feels like normal breathing is leaving me lightheaded and my lungs unfilled. When this happens, I compulsively take extremely deep and forceful breaths, but it only satisfies me in the moment that the air is pushed into my lungs. As soon as I'm exhaling, my lungs feel uncomfortable again.

I have also lost a great deal of weight. It was partially intentional, but I was losing weight a lot faster than I think I really should have been able to, given the diet and exercise plan I was doing.

I'm 24 years old, born in 1994. But I was born in Okinawa, Japan on a military base. Is there a possibility I was not screened for cystic fibrosis as an infant? My mom gets pneumonia all the time and deals with asthma, but I'm wondering if maybe she actually has cystic fibrosis and was never checked because the inhaler takes care of her breathing. She can't remember if I was screened or not. I was also born premature, so maybe that kept them from screening me? Is there any point in getting checked? I don't want to waste a doctor's time if it's impossible, but I am having a lot of trouble finding details about a scenario similar to mine. I know children in the US started getting screened in 1982, but I didn't know if being overseas would maybe have kept that from happening...

I guess my main question is: Is there no way I would have cystic fibrosis without knowing already at this point in my life? Should I get a test done for it, or is it a huge waste of time and money?

 

[LunaFaith]

I am 34, I was diagnosed when I was 23, it wasn't until I was diagnosed that I connected things I'd noticed but either didn't know it wasn't normal or it was blamed on something else so yes you can have CF and not know it

 

[TBOCB]

My son was diagnosed in 2009 at 2 months old based upon newborn screening. I didn't know much about CF, but as we learned I kept telling my mother that my father has always had the symptoms (sinus, chest, digestive issues and mostly chronic pneumonia) that we were "on the look out" for my son. My dad died in 2014 at the age of 74 to "COPD/Pneumonia" but was never tested for CF. I believe it is a distinct possibility he had CF. My son has yet to present any symptoms so perhaps my father didn't show anything until later. He said he started getting pneumonia and sinus infections in college.

I don't know if that helps.

 

[Printer]

You are showing more than enough symptoms to justify further screening. You need to be seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST. I was 47 when I was diagnosed. Even if you were screened, as an infant, they would have only screened for 32 mutations. There are almost 2000 known mutations, any 2 will cause CF. Go to cff.org to find your nearest APPROVED CLINIC. Please come back here and let us know how you make out.

 

[LittleLab4CF]

This question is not only thoughtful, it's a good model for most medical tests and procedures. I try to remember to ask if anything actionable could follow with the results in hand. If you're feeling fatigue, a blood test might show anemia or urinalysis could show a UTI or such.

Many, if not most of the 40+ CFers are late diagnosed. With the perfect vision of hindsight I should have been diagnosed a long time before I was at ~51 years of age. The moment I was diagnosed, medical intervention was immediately started.

I'm 68 and frankly I don't know how much longer I can put up with the deterioration of my quality of life. Much of what we deal with is the result of a hard life. Our bodies are going full out in the fight for life against infection load, malnutrition/malabsorption, most of the GI issues that affect people are commonplace, the ENT and lungs are a garden of pathogens and any fluid in the body is thickened causing dysfunction at every turn.

On the flip side, my father and paternal grandmother passed away at age 48 from clearly CF issues. Both had serious problems with the pancreas, grandmother had pancreatic/liver cancer, my father's pancreas was totally atrophied. My father was a dynamic and happy man which masked much of his health problems. If either one was diagnosed at an early age, I believe they would have lived to an older age with greater health.

People are beginning to understand that more than one gene is in play that determines how CF will present itself and I believe that something genetic is causing the onset of the issues surrounding CF.

One last thought. Some carriers are symptomatic, despite the conventional wisdom that carriers are perfectly fine. I'm 100% certain that we have diagnosed less than half of the people who are genetically CFers, and carriers who have significant CF issues.

Best Regards,
LL

 

[Johnathon]

Greetings all,

I've had a lot of explainable symptoms and am curious if you think it warrants further testing. No doctor I have seen in recent times thinks CF is possible, mainly because I have gone this far as an adult of 48 years. Another told me I would have most likely been in the hospital many times by now.

I was sent to the hospital last year because they thought I had pancreatitis , but it was probably an ullcer/gastritis. I kater tested positive for h pylori then negative after treatment. 6 months after that treatment I still exhibit lots of mucus being thrown up with certain foods. Mucus sometimes in stool. Oily-looking stools all the time. Constipation. Lack of thirst. lack of energy. Taking sea salt always seems to make me feel better, even when not sweating it out on my arms on a hot summer day.

Pancreatic labs and bloodwork were normal, but recent ultrasound showed enlarged liver and fatty liver. I had fainted (second time in less than a year) after having 3 drinks (not drunk), suffered small pneumothorax. I believe it was from stomach distress+drinks. Seems like there is always a strain of toxicity put on it. I was tested for parasites and bacteria and that came up negative. Now and again I will have shortness of breath, but otherwise no lung issues. Ok I say that but once in a blue moon I might cough up clear liquid. I could only ever smoke lightly or socially because I felt I would get sick too easily from it.

Should I press doctors harder to set up the test, or trust them to figure it out or say that it is nothing to worry about? The mucus and toxic stomach is the most mysterious, or problematic, to me. I can no longer have dairy fat, chicken fat, and some other things.

Thanks for entertaining my comment.

 

[jero86]

One year ago, I had to write my essay (or something like official paper / report) about this type of problems you mention, and how they become worse nowadays. And of course I've been getting all the necessary information - I simply asked people all around our campus and their patients about their feelings and their stories, and each story was mentioned in my paper.

 

[jero86]

Greetings all,

I've had a lot of explainable symptoms and am curious if you think it warrants further testing. No doctor I have seen in recent times thinks CF is possible, mainly because I have gone this far as an adult of 48 years. Another told me I would have most likely been in the hospital many times by now.

I was sent to the hospital last year because they thought I had pancreatitis , but it was probably an ullcer/gastritis. I kater tested positive for h pylori then negative after treatment. 6 months after that treatment I still exhibit lots of mucus being thrown up with certain foods. Mucus sometimes in stool. Oily-looking stools all the time. Constipation. Lack of thirst. lack of energy. Taking sea salt always seems to make me feel better, even when not sweating it out on my arms on a hot summer day.

Pancreatic labs and bloodwork were normal, but recent ultrasound showed enlarged liver and fatty liver. I had fainted (second time in less than a year) after having 3 drinks (not drunk), suffered small pneumothorax. I believe it was from stomach distress+drinks. Seems like there is always a strain of toxicity put on it. I was tested for parasites and bacteria and that came up negative. Now and again I will have shortness of breath, but otherwise no lung issues. Ok I say that but once in a blue moon I might cough up clear liquid. I could only ever smoke lightly or socially because I felt I would get sick too easily from it.

Should I press doctors harder to set up the test, or trust them to figure it out or say that it is nothing to worry about? The mucus and toxic stomach is the most mysterious, or problematic, to me. I can no longer have dairy fat, chicken fat, and some other things.

Thanks for entertaining my comment.

How many times you've been facing pneumothorax at all? Approximately... and how many times you've been in hospital because of that?..

 

[Johnathon]

How many times you've been facing pneumothorax at all? Approximately... and how many times you've been in hospital because of that?

Luckily that has been the only time, at least that it was diagnosed.

 

[gré]

Another ancient person wondering if she has CF. Born premature, August 2, 1943. One 'dramatic' event of hemoptysis – June '16 – required ER and four days in hospital. Only a couple very minor instances of hemoptysis previously – maybe 2003. MRI at the 2016 hospital stay showed bronchiectasis. Sputum culture revealed Pseudomonas aeruginosa. Genetic test shows I have the F508 but none of the other 59 in the basic group. Passed the sweat test – or failed for having CF. Diagnosed with severe osteoporosis at age 43. 300% more fat than norm showed up in a 2006 comprehensive stool analysis. Major problem digesting lectins. I began taking enzymes on my own and l-glutamine and DGL after I'd gone down below 90 pounds with the lectin intolerance. I started seeing an 'intergrative' physician. His assistant suggested liver flushes. I did about 22 of them over the year I worked with that physician. Apparently, by the time I stopped, old stone from inside the liver were coming out. But, the doctor concluded I was still producing stones. He did not have an explanation, wasn't covered by insurance, so I stopped working with him. I'm near UNC's highly reputed CF Center – UNC Hospital is where I was taken to the ER. Because I'm able to sort of work symptoms out on my own now with the enzymes and avoiding foods with "heavy" lectin content and switching around foods that do have lectins — night shades family; grains; legumes — I hate to push for a CF diagnosis (except it would save me $3K a year in obligatory dining services fees at the continuing care retirement community where I presently live and a nutritionist could help me keep weight on and choose enzymes with some logic). I was thinking of writing the CF doctor who saw me after some of the post-hemoptysis tests and who was the first to mention the possibility that I might have CF but who – because the sweat test and the lung capacity tests do not indicate I have CF – probably didn't pursue my case further. He mentioned, the one time I met with him, that he had diagnosed a 78 year-old man with CF and that more and more it's being realized CF can go un-diagnosed for decades.

 

[Printer]

I am 79 years old with CF. I was dx at age 47. I won't waste your time, I believe that you could have CF. You need to be seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CF SPECIALIST. If you live in the US, go to the following link for a clinic in your area. cff.org.

 

[gré]

Appreciated your reply so much, Printer. Maybe as soon as I have time and energy for appointments and more tests, etc., I'll email the director at UNC's Adult CF center. (That's where I was seen and tested – sweat, respiratory, genetics, sputum cultures, etc. – and is on the cff.org list so thanks for referring me to that.) A little more internet research to send UNC a list perhaps related symptoms experienced over the years will probably expedite a diagnosis. When I had the 2016 bout of hemoptysis and was tested subsequently at this center, I hadn't had time or knowledge enough to piece together several childhood and decade-long adult issues that might be symptomatic of CF.

 

[Lynnfield mom]

Just an FYI, there is something called non-CF bronchiecetaisis (sp).You could have many symptoms similar to CF and not have CF. Regarding those who think their father had similar symptoms....98% of males with cystic fibrosis are infertile.