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Late diagnosis or misdiagnosis?
Over the years, within the online CF community, there’s been a growing number of people coming forward and stating that they were diagnosed later in life or, at least initially, misdiagnosed.
Were you misdiagnosed? Were you diagnosed later in life? If so, how did you navigate life before an official CF diagnosis?
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41 Replies
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Hello,
I was not diagnosed till I was 52. I was raised in Dallas and lived in Houston after that for 24 years. I went to numerous Dr. From a ton of ENT, allergist, Pulmonary Dr. and no one took the time to sit with me and figure out why I was always so sick. In 2010 I was hospitalized with my first Pancreatis and had pneumonia at the same time and still no one thought, not even the ER Doctors. Sad to look back at all the Doctors I went to (even with Pseudomonas infections) that never figured it out. Then I moved to Boston and I went to a Allergist and he sit with me and listened to my life history and asked if I had ever been test for CF. I thought he was crazy but he was 100% totally right. Boston Childrens Hosptial has been the best thing that ever happend to be for my health. I am on Symdeco now and feeling SO much better. Alot of really bad Doctors out there.
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First off, I’m glad you’ve been properly diagnosed. It’s important to keep in mind, though, that not every doctor thinks about CF with adults if you haven’t already been diagnosed. Luckily, Boston is a really big CF city and someone there figured it out!
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I, too, was diagnosed late (19 years) in the hospital with case of pneumonia. Even then, I was put in isolation for potential tuberculosis. After several days, a test for CF was proposed. Sure enough, and that addressed the ear infections and stomach aches when I was younger.
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What kind of stomach issues did you have growing up?
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Hello William. Thanks for the question. I fought frequent constipation and subsequent stomach aches as a child. I fell off the normal growth track and was given human growth hormone for awhile, but I still wasn’t absorbing the nutrients my body needed. In 8th grade I tried wrestling, and often won because the team we were facing didn’t have anyone at my weight class (under 75 lbs).
Finally, when I was diagnosed in 1985, I was introduced to pancreatic enzymes. I didn’t take enough of them initially, and was awarded with a blocked intestine while at college. Since that time, I’ve been pretty diligent at taking them.
Cheers!
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I was diagnosed at 58. I’ve had bronchitis and sinus infections multiple times a year since childhood, and several bouts of pneumonia. So many that a doctor a few years ago looked at my chart and said “you take way too many antibiotics, I’m going to put a note in your chart that says no more antibiotics”. But she never thought to test why I keep getting sick. Also had many docs before her say “this time we’re just doing steroids, no antibiotics”, and when I got sicker, they’d say that wasn’t normal, as if I’d done something wrong.
Getting diagnosed was actually a huge relief and I feel like I’m finally getting appropriate care and being closely monitored. I love my CF doc, and enjoy my visits with him.
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That’s great that you have a good CF team that cares for you! Also, great call by the hospital doctor there.
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I was recently diagnosed with CF at 56, just before Thanksgiving 2023. Needless to say, it was life-affirming, for I had always dealt with chronic sinusitis, was diagnosed with brocheactisis, and even had a whipple to cure me of pancreatic cancer. It wasn’t until I went back to the University of Michigan to see an amazing ENT (after enduring 12 mos of sinus infections and sinus surgery from a Dr who continually gave me levaquin which messed with my joints) and he sat down with me and asked if I had ever been diagnosed or even tested for CF. We started the testing and sure enough I was diagnosed with a mild form of CF. Now I’m on Trikafta, pulmozyme, and cayston and living my best life! I often wonder why it took so long. Does anyone know?
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There’s been a lot more development and even more rare mutations have come across the pipeline over the years. So, when you were growing up, your DNA might not have shown that you have CF, but it may now just because of the advancements made within CF.
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Hi William,
I was diagnosed at 54yrs old but sadly not by the doctor treating me for advanced pulmonary NTM (kansasii not MAC). My lungs have cavities .. bronchiectasis .. parts with “ground glass”. That’s my worst symptom. I am very thin but have decided I don’t care anymore. I cannot control it.
Actually, what I have decided – an epiphany of sorts – “I must do everything I can to ensure I suffer as little as possible.” This basically means … I can’t help the physical suffering … but I can do something about the mental suffering.
Like for hemoptysis – which I have had – the physical I cannot control as it’s in the hands of the Gods.
But the mental – I now see hemoptysis as a blessing – a potential quick end to the suffering, the coughing, the lung decline, the infections and the dealing with doctors part… which I might add appears to be the worst part of the disease.
Once I had this epiphany, an enormous calmness entered the picture. I am working on the calmness still and anticipate life will continue to test me.
For what I’ve realised is – this isn’t about CF or my lungs – this is about the life lessons. I am learning to Master my Mind.
For all of this journey I would recommend thinking about this …. this is not about the lungs.
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It’s definitely important to keep your mental health up and in great shape.
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My wife was diagnosed in 2009 aged 67 after years of bowel and respiratory problems. As a child & teenager was diagnosed as having bronchitis and constipation and learnt that riding her bike vigorously enabled her to expel mucous that was causing her cough. In her 20’s and 30’s had 2 episodes where she did not tolerate living at altitudes of 7000 – 7500 feet. From aged 36 my bowel deteriorated and increasingly produced a foul-smelling irritant faeces and resulted in its total removal at aged 60 leaving her with an ileostomy. Meanwhile she had numerous episodes of difficult breathing that were diagnosed as asthma. In the 1970 her nephew was found to have CF and we were becoming suspicious. When asked ‘Could it be CF?’ we got the pat answer “No. You would be dead by now”. In 2009 she was referred to a respiratory physician who responded differently “possible – easy enough to test” and so testing began taking the next 6 months. The results were that she was compound heterozygous with one Class 1 mutation (G542X) on one chromosome and a different mutation on the other (R75Q). But all was not concluded then as on the CFTR2 database R75Q was listed as not causing CF (still isn’t). But on a checklist of 25 signs and symptoms of CF she had 20. Creon improved her digestion and just this last month Ivacaftor has improved her health (breathing and many of her co-morbidities – heart failure (cardiomyopathy & atrial fibrillation), hyperparathyroidism, Adrenal failure and hypokalemia, Sjogren’s, and we hope vasculitis, etc.). It is clear to us that R75Q does cause CF – just not as severe as some other mutations, deterioration takes longer and it has caused many co-morbidities (maybe ones that pwCF with more severe mutations do not have time to develop).
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Wow, what a fascinating story. I can’t blame for the doctor coming to that conclusion in 2009, because it’s totally understandable for that time.
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Tim, what does compound heterozygous mean?
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My story:
I was diagnosed at age 55 after a lifetime of respiratory infections and seeing so many different drs including pulmonary, infectious disease, and ENT. I had sinus surgeries for aspergillosis in my sinuses. Also had pseudomonas and aspergillosis in sputum specimens. I also had pancreatic symptoms both endocrine and exocrine. One pulmonary Dr actually tested me for CF mutations and when the results came back scribbled “carrier” in bold letters across my report. Drs always thought I had a bronchial viral infection when I went in with my plethora of symptoms. For a time we went on vacations yearly to Mexico and I would stock up on broad spectrum antibiotics which offered some relief. I was desperate. Finally my stepson who was a young Dr said Joanie, I think you have CF. And I said wouldn’t I be dead by now? He advocated for me and got me in to the CF clinic for testing, and after the diagnosis, I finally got the care I needed. And since I have 1 copy of the DF508 mutation and 1 lesser known mutation, I qualified for Trikafta in 2020. Its completely changed my life. No more coughing or throat clearing and I can breathe easily. Even my blood sugars have improved and I don’t need to watch my carbs as closely. It hasn’t helped the EPI but Creon does. Coincidentally, I have 3 sisters who also have the exact same mutations and variants and we all have varying degrees of illness due to CF. One other is also on Trikafta and doing well now.
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Wow, four sisters with CF! That’s amazing. Glad you’re doing much better!
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So glad you’re doing well on Trikafta – and your sister, too!
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I was diagnosed at 67, 2 years ago. 7 months later I was also diagnosed with pulmonary sarcoidosis. A rare but not unheard of combination. I would say that my CF seems “light”, as I had a relative with CF so already knew what more intense cases were like. The sarcoidosis is not being any fun at all.
As to CF, as a kid I had repeating sinus infections. I also had horrid constipation – but lied about it. I was normal body mass (BM) when young, but then never filled out. I ate plenty but never gained weight. I also had a lot of problems with overheating as a child and teenager. My family just thought I was “delicate”. At 50, I had a “weird pneumonia” bout. I went to the ER for a fever of nearly 104F. I’d had what I thought was a sinus infection. I ended up with a temp of over 101F for 10 days, with no antibiotics or return check ups. My doctor told me 3 days later that I had “pneumonia” (that diagnosis wasn’t given at the hospital.) It took a very long time to get well from that. Luckily, I’ve never again had anything that bad in my lungs.
2-1/2 years ago, I was sent for CF evaluation after an xray of my back (for spine pain) indicated a significant problem in my lungs. Next was a lung CT; then a referral from my allergist to a pulmonologist. When bloodwork showed me to be a CF carrier, I was the one who brought up the CF potential. They felt doubtful but referred me to the nearest CF Clinic.
My mutation has one “oddball” mutation: c.-581G>A (along with delF508). My sweat chloride runs 72-74. I now go to a CF clinic and have landed with a team that keeps a good eye on me. I’m now having some glucose issues and am considered at risk for CFRD. Watching that! I score good on my spirometry, but do have some bronchiectasis going on.
Meanwhile it’s the pulmonary sarcoidosis that now seems my bigger issue wrt fatigue, shortness of breath and weight loss. It’s all a big challenge that I didn’t expect, but there’s still plenty of quality in my life, and I’m going after all I can get.
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Keep pushing! As I believe I mentioned to someone else, those rare mutations really seemed to fall through the cracks decades ago, because the science wasn’t there. Thankfully, we have it now.
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William, thanks for your words of positive and encouragement. And everyone, HEY, I got a bit of good news on Friday about the pulmonary sarcoidosis: with my newest CT, it is stable compared to the last 3 scans that each showed “continued worsening“. I’m feeling better, too. I don’t have to go on the methotrexate at this time. I’m getting used to and more accepting of my new normal.
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Jeanne asked: “what does compound heterozygous mean?” It refers to there being different mutations on each chromosome, in my wife’s case G542X on one and R75Q on the other. G542X is a class 1 nonsense mutation that results in no effective CFTR protein. R75Q does produce some CFTR but it is less effective than normal CFTR. For that reason her symptoms are less severe than had she had G542X on both chromosomes. Such that some classify R75Q as not causing CF – but the signs and symptoms are there. It also appears to cause many co-morbidities that may or may not be seen with some of the more common mutations.
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Thank you, Tim! I really appreciate the time you take to explain things.
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Keep pushing! As I believe I mentioned to someone else, those rare mutations really seemed to fall through the cracks decades ago, because the science wasn’t there. Thankfully, we have it now.
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Growing up I kept having “viral pneumonia”. My dad didn’t think I should be having so many episodes and thus took me to an allergy clinic in Charlotte. I did have allergies and took shots from age 8 to 14. On Boy Scout campouts, I’d always wake up in the morning wheezing heavily. No fun! After my teenage years all obvious symptoms, including allergies, went away. Then in 1970, in my mid-20s, my then wife and I were trying to conceive with no luck. My sperm count was zero. A testicular biopsy returned the diagnosis “bilateral agenesis of the vas deferens”. No known cause at that time. Life continued. About 1975 had pretty severe bout of wheezing. X-ray showed spots on lungs. Biopsy found Aspergillis. Eventually resolved on its own. No noticeable problems from then until about 1997 after moving to Houston, TX, where mold allergies appeared with a vengeance. Took shots for several years while there, then overseas then back to Texas. Retired to Western NC in 2015, stopped shots and allergies returned with a vengeance. Allergy doc referred me to pulmonologist who suspected bronchiectasis (spelling?). CT confirmed it. Referred me to pulmonologist at UNC med school. While taking my history, she asked about children. Explained about the 1970 vas deferens agenesis diagnosis. Doc explained that high percentage of men with CF had that condition. Did the sequencing and found f508 deletion plus p.Arg810Gly substitution. The latter is rare, but was seen in patient with vas deferens agenesis. So, in 2018 (when I was 73) I learned why I had the condition first confirmed in 1970!
I started Trikafta in January 2020. Lungs have been ok since then, but I’ve dealt with diarrhea (now controlled by fiber supplements–I think William recommended that–thanks!!) and also lower leg swelling (I have double knee replacements), reasonably well controlled by compression socks. From 2018 up to 2020 my pancreas was ok. But now I have significant insufficiency and take Creon.
Given the stories I read and hear about patients with severe cases, I consider myself quite fortunate to have such a mild one. I am writing this as I’m on a bucket-list trip to celebrate my 80th birthday. I am blessed.
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Wow, Robert-Lane. Fascinating and strange how your allergy and asthma symptoms came and went in different times of your life. My allergies never take a hiatus! I really big congratulations on your 80th birthday! That is really something.
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Hi, Robert. I’m not even sure if you will see my comment, as it is now a year past your post. I am a 43 year old female who has had struggles like yours throughout my life. I was diagnosed with bronchiectasis in my late 20’s. I have always had constant sinus and lung infections. One thing that struck me about your story is that you have the exact same mutations as I do. Seeing as how one of our mutations is extremely rare, I never expected to come across anyone else with it. I am so curious as to how you were diagnosed because my doctors will not give me a CF diagnosis. Their reasoning is that my sweat tests have been negative and my rare mutation isn’t yet known to be pathogenic or non-pathogenic. Because of this lack of diagnosis I cannot get myself modulators like Trikafta that could significantly improve my quality of life. My 2 mutations were identified in 2019, so this has been a 6 year struggle for me of getting frustrated with getting no diagnosis. They don’t seem to care that I have 2 mutations and symptoms consistent with CF. I am located in Pennsylvania and where I am, there aren’t many different options of places I can go.
I am glad to know that you seem to be doing well and I hope that you still are! If you have any advice for me to get a diagnosis, it would be much appreciated! Take care! -Pam
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Hi Pammy, Wow! There are two of us–at least. My sequencing was done by a lab that did molecular modeling (using two different models) to determine that the rare mutation is “disease-causing”, “probably damaging” and “deleterious”. I can send you that info so maybe you could present to your docs to support a diagnosis. (My sweat test was normal). And I have read, but unfortunately don’t have a reference, that even the f508 del alone can cause some CF symptoms.
I’m not sure if there is a way for us to communicate privately, but if I can get an email address I can send you a pdf of the report on my sequencing. Or with a mailing address I could send you a hard copy of the report. Maybe our moderator can connect us??
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Hi again, Robert! I really didn’t think you would see my comment so quickly, so I wasn’t expecting a reply so soon. Thank you so much for being so prompt! You’re right though, there are at least two of us!
That is so interesting about a lab doing molecular modeling on that specific mutation to determine whether it was pathogenic or not! I would truly appreciate it if you could send me any of the info that you may have either by email or to my home address. I’m sure it will probably much easier for you via email though, so I will give you that here and I can give you my home address through email if need be. My email is [email protected]. I look forward to hearing from you! -Pam
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Great to hear your story, Robert-lane. What else has changed/improved with Trikafta?
What has been reported/documented? Sadly Vertex and many CF Physicians appear to think pwCF are just lungs. No other organs in the body are important. You had year of allergies and infertility. Many have a range of ‘co-morbidities’ – most of which, if not all, caused by the faulty Chloride transport.
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I was officially diagnosed with CF at 40 — in 2015… ten years ago! One CFTR variant was on my state’s 23-variant screening panel. The other? Part of the 39-variant panel—only added in 2022 by my state. Imagine the others missed in the years in between—or those with variants outside the current panel entirely. And consider the many states still behind to implement their CF variant panels ……
At age 13, I had a positive sweat test. My symptoms didn’t match a cousin diagnosed at birth, so my parents assumed it was a “fluke.” For nearly 30 years, I lived in the in-between: sick, treated for countless conditions, but never re-tested for CF. Even when prenatal testing confirmed I was a CF carrier, every physician dismissed it in relation to any of my symptoms.
Sinus infections. Asthma flare-ups. Abdominal pain. Pancreatitis. Emergency rooms. Antibiotics. Nebulizers. Steroids. Dehydration. Exhaustion. Yet no physician ever considered CF—until an experienced ENT finally connected the dots and ordered a full CF genetic test.
Decades earlier, updated adult protocols and screening could have saved me years of uncertainty, missed work, financial strain, and the mental toll of my symptoms being dismissed by physician after physician.
…… I was missed >>we were missed >> because CF wasn’t on anyone’s radar. Adult physicians often don’t know how to recognize CF or even what to do about it even when they might suspect it. Specialists don’t communicate—they focus on one symptom at a time, never seeing the bigger health picture. I had to become my own advocate, care coordinator, and educator (I still am). The CF system wasn’t built for adults like me >> like us —and it’s failing others!
Stories like ours are still overlooked. People right now need advocacy, mentorship, and connection. That’s why I’m fighting for change—not just awareness—because the CF system needs to act now.
If you want to join a network of late CF-diagnosed adults making a difference, email me: [email protected].
Together, we can make sure no one else falls through the cracks—because who else is stepping up!? Our collective story matters, the CF system and broader community needs to hear it!
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Wow, Kristina! All of that testing, but never retesting for CF is astounding. For quite a long time, medical officials really stuck to a strict textbook definition of CF. Reasonably so, because it was very binary back in the day. Thankfully, you have a proper diagnosis!
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I was diagnosed at age 73, heterozygous, with one F508 deletion, and one rare mutation predicted to be disease-causing. Obviously, my form of CF is not nearly as severe as that of many (I was born in 1944). Growing up in small-town and rural North Carolina I had “virus pneumonia” a number of times. On Boy Scout campouts, I’d always wake up wheezing and could not participate much in physical activities. My parents took me to a Charlotte allergy clinic where I was diagnosed with allergies and asthma and prescribed shots (for about 6 years) and a fairly severe diet (for about two years). In 1970 while in grad school, I found I had zero sperm count, and a biopsy found solid cords where the vas deferens should be. No known reason at the time.
After high school age I didn’t have any respiratory symptoms again until I moved from Alaska to Houston in 1997. Again with the wheezing and back on shots. I was on and off shots for a couple of decades. In 2017 I’d been off shots for a couple of years and developed significant allergy symptoms (wheezing, plugged sinuses, matting of matter in the eyes) during our wet Western NC spring and summer. My allergist referred me to a pulmonologist who quickly verified by CT scan that I have significant bronchiectasis. The pulmonologist sent me to UNC‘s adult pulmonary clinic in Chapel Hill, where I was very fortunate to see a young doc who immediately recognized that the combination of lung problems + my type of infertility was almost surely due to CF. DNA sequencing confirmed it in late 2017. So 47 years after learning of my infertility, I learned why.
Today I’m on Trikafta and digestive enzymes (pancreatic insufficiency only showed up after I had been on Trikafta for about a year; go figure). I am happy to still be here, and my heart goes out to those whose experiences have been so much worse than mine.
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So sorry for this repeat. Long story concluding with “…but I’m 81!”
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How many of our age have chronic respiratory and bowell disease and are undiagnosed CF?
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I wasn’t diagnosed with CF until I was 64 years old. My sister died from CF at 21 years old. We were often both sick but she was worse. I often struggled with lung issues – bronchitis, pneumonia but all doctors said I was too old to have CF. I am pancreatic sufficient so I don’t have those problems. Finally when genetic testing began I learned I had two recessive genes. Finally I was able to get proper nebulizer treatments and then the miracle drugs Trikafta. I am still hanging in here at 79 years old.
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Wow! I’m sorry to hear about your sister. While that’s tragic, I’m glad to hear that you’ve been able to live a long life.
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It is incredibly eye-opening to read about the different situations of diagnosis of cystic fibrosis. From early to late to mis- diagnosis, these stories help to shine a light on cystic fibrosis awareness and studies.
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Absolutely! That’s what we’re here to do.
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Hello, thank you for accepting me! This is my first post.
I had digestive problems as a baby, spent times in hospital, “failure to thrive”.
In childhood had nasal polyps removed, pneumonia, a chronic cough, and was very thin.
I have cystic bronchiectasis in my lower left lobe where Pseudomonas has colonised, now also in my right lung. Digestive problems began more recently and I now rely on pancreatic enzymes before eating.
Also gastro. esoph. disease.
Last month I asked my local doctor for a CFTR test.
It was a 50 panel test, the results were ..heterozygous for 12TG-5T variant
CFTR: c.1210-33_1210-6GT(12)T4
So one copy is normal, one has the variant, which means I am a carrier.
My GP is unfamiliar with cystic fibrosis and I would like to know if I have some form of CF or CFTR related disorder.
I feel I should have a more comprehensive CFTR gene sequencing test, or NGS test, because my lifelong symptoms suggest that I am more than a carrier.
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Thanks for sharing your story! Welcome, Lin!
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Thanks, Lin! If you’re in the US try reaching out to your state college’s hospital. They generally have CF departments.
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