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Is it possible to be mistakenly diagnosed with CF?
- Thread starter mandrake
- Start date
You could ask to have them re-test your mutations or do a sweat test. The fact that you've cultured pseudo in the past, have digestive issues, asthma leads me to think that you do have CF. DS has mostly sinus and digestive issues. He did tend to culture common cf bugs early on ---- pseudo, H. Flu, steno maltophilia, but never coughed unless he had an exacerbation.
Thank you so much for your response! I suppose the part that is most unusual to me is my mutations. I have poked around through forums and found plenty of people with mainly just mild digestive issues like me, but they all seem to have "rare" or "atypical" mutations. I always figured that I wold have ended up with asthma, CF or not, because my relatives on both my mother's and father's sides have asthma (including my mother). If you don't mind me asking, was your son also diagnosed later in life?
He was diagnosed a few days after he was born because he was born with a bowel obstruction. Meconium Illeus and required surgery. A doctor suspected CF based on that an ordered a basic genetic test from Mayo, which tested for the most common mutations. What seemed odd to us and made us doubt the diagnosis a little bit was he had a normal sweat test; however, based on the amount of salt he sweats out, I suspect a repeat of the test would definitely show CF.
Mutations are odd. Even within the DD F508 realm. I have a friend whose son was diagnosed via newborn screening, his 3 year old sister who'd never been sick was tested and found to have CF. Friend of mine's husband was diagnosed at age 13 because of failure to thrive --- was super skinny, wasn't growing, but didn't have a cough -- he's in his mid-40s and until recently was pretty hit or miss in terms of treatments. He'd vest once a day and still doesn't bring along his vest when he travels. He tried Orkambi briefly, but didn't like that it made him cough when he started it.
Mutations are odd. Even within the DD F508 realm. I have a friend whose son was diagnosed via newborn screening, his 3 year old sister who'd never been sick was tested and found to have CF. Friend of mine's husband was diagnosed at age 13 because of failure to thrive --- was super skinny, wasn't growing, but didn't have a cough -- he's in his mid-40s and until recently was pretty hit or miss in terms of treatments. He'd vest once a day and still doesn't bring along his vest when he travels. He tried Orkambi briefly, but didn't like that it made him cough when he started it.
I'd recommend doing some reading on modifier genes in CF. I don't know much about it, but my understanding is that researchers believe that environmental as well as genetic factors can lead to very different outcomes in people with the same mutations. Here are a couple links for example: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785460/ and https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2248430/
That said, you should still bring it up with your doctor if you have concerns - doesn't hurt to re-do sweat test/genetic testing and as a general matter with CF it's always worth evaluating with your doctor whether the treatments/meds you are on are appropriate for your specific situation.
That said, you should still bring it up with your doctor if you have concerns - doesn't hurt to re-do sweat test/genetic testing and as a general matter with CF it's always worth evaluating with your doctor whether the treatments/meds you are on are appropriate for your specific situation.
Thank you PennyBK, that is very interesting!
I suppose I really should voice all of these concerns to my doctor, I am just a bit nervous doing so because I transitioned to an adult doctor only about two years ago, and I don't feel quite as comfortable bringing up new ideas with them as I did with my pediatric doctor. Even with suggesting maybe not continuing to use Tobi because the pseudo never showed up in any more cultures and I didn't like the way it made me feel, I got a very firm no. Now I kinda feel like I lost those nearly 2 years on Tobi to being constantly short of breath, and really wish I had stopped it sooner!
I suppose I really should voice all of these concerns to my doctor, I am just a bit nervous doing so because I transitioned to an adult doctor only about two years ago, and I don't feel quite as comfortable bringing up new ideas with them as I did with my pediatric doctor. Even with suggesting maybe not continuing to use Tobi because the pseudo never showed up in any more cultures and I didn't like the way it made me feel, I got a very firm no. Now I kinda feel like I lost those nearly 2 years on Tobi to being constantly short of breath, and really wish I had stopped it sooner!
tammiew123
New member
My daughter was diagnosed with CF at the age of 2 in 1991. She's 28 yo and as of a few years ago, her mutation hasn't turned up in genetic testings. We know whatever she has is a milder form of CF because of the shape her lungs are in. When issues arise, all ER doctors are always shocked to hear she has CF once they listen to her and see Xrays. When she was first diagnosed, she was having lots of respiratory issues and was hospitalized frequently. BUT we started her on inhaled tobramycin (this was before TOBI existed) and it turned things around in an almost dramatic fashion for her. She went from almost monthly hospitalizations for four years to not being hospitalized for 2 - not even a SINGLE respiratory illness! During her "good" period, I started reading tons of literature (when she was diagnosed, I'd read everything I could find on CF but NOT on the possibility of illnesses/genetics/etc. that sometimes mimic CF like symptoms). I convinced myself she perhaps had something different. I went to her pulmonary specialist who always treated me as an equal (we were so very fortunate when I look back on things) and he told me how there can be a false negative but there are no false positives with CF. I continued to argue so he brought in his younger, new partner who attended CF conferences and the new dr. said, "Richard, WHY not just let her do it? It's a sweat test - it's not an invasive test." I said, "my point EXACTLY". We did it and she tested positive. Over the years, we have seen her deal with SO many issues with her lungs at times, her sinuses, then it was her kidneys, then digestive, recently it's been issues with some her ovaries, endometriosis, etc. So, we're convinced she has it BUT she definitely has her own form of whatever mutation it is she has. Her FEVs are great for a 28yo., she's only on a couple enzymes for digestive, she does inhalers daily and moves to treatments when she feels anything coming on. My point to this long ramble is... YOU are the person with CF and it is always in your best interest to speak up. Always. My daughter has oftentimes known she needed to go on IVs even when the xrays or tests came back not really showing the need for them. As soon as she'd get about 24 hours in, mucous would just start almost pouring out of her, her xrays and lungs would be radically different but because her doctors listened to her, she'd have a head start on her healing process. I've learned to never question her when she calls and says, we're headed to the ER (she's married now) - I've contacted Dr. __ and told him it's time and I'm not making progress on the plan we've had these last X number of days. Or, headed to ER, I have this weird pain in my gut and it's not normal. She is right 99.9% of the time. Her pulmonary specialist (same doctor) always tells people to listen to her because she knows her body better than anyone else. So always, always, always trust yourself. It's okay if you take the test and it comes back positive again. You're already living the life of a person with CF so you know what it means. But what if? If you don't ask, you'll never know. No matter what you decide, good luck. And congratulations on speaking up about TOBI. My daughter was fine with inhaled tobramycin (you can't get it for use like that since TOBI came out) but TOBI irritates her bronchial tubes and she's never cultured psuedo so she does not do TOBI either.
No test is perfect, but it is hard for me to believe that they could mistake the most common mutations unless there was a complete mix up.
I have DDF508 and have similarly mild lung involvement. I've never been hospitalized, have always had high FEV1 (Your 120% is awesome, but without CF would you naturally be at 130-150%? Not all lungs start with the same baseline, 100% is just an average). I do get colds/flu and generally cough and produce phlegm a bit more than the average person. I also have asthma symptoms and little tolerance for inhaled Tobi. I've found that if I manage the asthma well then my FEV1 is much better. I do have one respiratory therapist that believes the asthma is likely do to small airway (alveoli) infection/blockage, which is an interesting theory. I do have more sever digestive issues that require a good share of enzymes. However I have two brothers w/CF that take half the enzymes I do, and don't spend the day in the bathroom if they don't take them (and ended up several inches taller and lots of pounds heavier than me).
One thing that is 100% evident in me is my salty sweat. An experienced Dr could probably just diagnosis me from looking at me after a day in the sun or at the gym. When my sweat dries it leaves salt deposits on my temples, other sweaty areas (arms, nose, etc) might have fine salt grit when I dry. All my hats end up with salt tide lines after a week or so of use. So that leads me to wonder, have you had a sweat test?
Last thought; aging from 20s to 30s has made a difference in managing this disease. Fight to protect your high PFTs in your teens and 20s because you'll need those extra percentages as you age, Recovery times, immune response, and energy levels start to wane as you age, and as busy as high school and college felt, those years are vacation-like relative to working fully time and taking care of a family.
I have DDF508 and have similarly mild lung involvement. I've never been hospitalized, have always had high FEV1 (Your 120% is awesome, but without CF would you naturally be at 130-150%? Not all lungs start with the same baseline, 100% is just an average). I do get colds/flu and generally cough and produce phlegm a bit more than the average person. I also have asthma symptoms and little tolerance for inhaled Tobi. I've found that if I manage the asthma well then my FEV1 is much better. I do have one respiratory therapist that believes the asthma is likely do to small airway (alveoli) infection/blockage, which is an interesting theory. I do have more sever digestive issues that require a good share of enzymes. However I have two brothers w/CF that take half the enzymes I do, and don't spend the day in the bathroom if they don't take them (and ended up several inches taller and lots of pounds heavier than me).
One thing that is 100% evident in me is my salty sweat. An experienced Dr could probably just diagnosis me from looking at me after a day in the sun or at the gym. When my sweat dries it leaves salt deposits on my temples, other sweaty areas (arms, nose, etc) might have fine salt grit when I dry. All my hats end up with salt tide lines after a week or so of use. So that leads me to wonder, have you had a sweat test?
Last thought; aging from 20s to 30s has made a difference in managing this disease. Fight to protect your high PFTs in your teens and 20s because you'll need those extra percentages as you age, Recovery times, immune response, and energy levels start to wane as you age, and as busy as high school and college felt, those years are vacation-like relative to working fully time and taking care of a family.