Topics

Sweattest
Dear CF-experts, I am 29 years old and have cystic fibrosis with the homozygous Delta F508 mutation. Overall, I have a mild course of the disease. Fortunately, I have no lung-related issues, and my FEV1 stands at 112%. My symptoms are predominantly gastrointestinal. Additionally, I have CF-related diabetes. My diagnosis has been genetically confirmed via blood testing since 1997. At that time, my sweat test result fell within the "gray zone" at 52 mmol/L; however, insufficient sweat was collected, rendering the result uninterpretable. Recently, I underwent another sweat test, and my current result—at 109 mmol/L—is significantly elevated. Given the mild nature of my condition, I honestly expected a lower value. Consequently, I feel somewhat unsettled. What is the significance and diagnostic value of the sweat chloride level? Does it provide any insight into the progression or severity of the disease? Thank you very much for your advice! Best regards,
17.05.2026
Oxygen saturation
Hello, how low can oxygen saturation drop during exercise?
17.05.2026
Blood pressure and headaches while taking Kaftrio®/Kalydeco® (Trikafta®)
Dear ladies and gentlemen, Is it possible for blood pressure to rise uncontrollably while taking Kaftrio® or Alyftrek®, and for severe headaches—such as migraine attacks—to occur? Sincerely,
17.05.2026
Reduction of Kalydeco®
Dear Expert Advisory Team, I would appreciate your opinion on the following matter: based on several sweat tests conducted while I was taking Kaftrio/Kalydeco®—which consistently yielded results between 10 and 18 mmol/L (a very low value)—my CF clinic is now considering whether, in my case, "less might actually be more." The conclusion reached was that I should take one tablet of Kaftrio® in the morning and one in the evening, while omitting the Kalydeco® entirely. I should mention that I experience absolutely no side effects at my current standard dosage, which I have now been taking for five and a half years. Given that I suffer no side effects and the medication works so effectively for me, I feel quite apprehensive about this little "experiment." I did attempt to reduce the dosage on a trial basis recently, but I immediately developed "cold-like symptoms" shortly thereafter. Of course, it has not been conclusively determined whether these symptoms were causally linked to the dosage reduction. My current plan—which has also been discussed with the clinic physicians—is as follows: to attempt another dosage reduction shortly before my next scheduled clinic visit. I was told that reducing the dosage (specifically, discontinuing the Kalydeco®) one week prior to the appointment would be sufficient to obtain a valid sweat test result. Now, here is my question to you: Is this approach—or the rationale behind it—considered standard practice? Is there any existing clinical experience regarding this specific scenario? What arguments would support such a reduction, and what arguments would weigh against it? Many thanks, UE (CF, female, 54 years old, FEV1 68)
17.05.2026
F508del and CFTRdup19
Dear ladies ad gentlemen, My daughter (8 months old) carries the mutations F508del and CFTRdup19 (Exon 19). Currently, she is not taking any medication; her blood work was normal, and her ultrasound was also unremarkable. Her pancreas is functioning, and she is gaining weight very well (weighing just under 9 kg). Two sweat tests yielded results of 46, while the most recent one came back at 64. What can we expect given this specific combination? According to genetic specialists, my daughter is only the sixth patient ever identified with this particular combination. What potential effects might this have, or are there perhaps any experiences from other patients that you could share? Based on clinical experience, is it inevitable that the disease will eventually manifest, or could this turn out to be an atypical form of CF? Furthermore, should the need arise, would she be a suitable candidate for modulator therapies? Thank you. Best regards.
17.05.2026
Modulators for R1162X and Q1035X
Good day, Are there any modulators available for the R1162X and Q1035X mutations? Is it to be expected that any will become available in the foreseeable future—or indeed, at any point? Is research still being conducted at all to find treatments for patients with this mutation? Many thanks for any information. Best regards
17.05.2026
Breathing problems while sleeping
Dear expert Team, First of all, thank you very much for providing the opportunity to ask questions here. I am a 39-year-old female with CF and an FEV1 that usually hovers around 67%. There are no modulators available for my specific mutations. Despite my FEV1 still being relatively good, I experience significant difficulties with sleep: For instance, I have reached a point where I can barely lie on my back at all anymore. Depending on my general condition at the time, the situation varies: sometimes I cannot lie on my back for even a single second without immediately feeling as though I cannot catch my breath; at other times, I can manage it for 2–3 minutes, but during that time, the urge to roll onto my stomach grows increasingly intense until I simply cannot bear it any longer. These 2–3 minutes of tolerance are usually possible when I am taking antibiotics. When lying on my stomach, breathing is still not easy, but it is significantly better. By now, this has become so ingrained in me that whenever I see people lying on their backs—anywhere—the thought involuntarily flashes through my mind: "Oh God, how do they manage that?!" Unfortunately, due to being forced to sleep on my stomach, I suffer from considerable neck, shoulder, and back pain. Furthermore, someone recently mentioned to me that as I am falling asleep, I experience periods of severe shortness of breath lasting several seconds (at least 10–15 breaths per 10 seconds), followed by 2–3 normal breaths, and then another 10 seconds of shortness of breath—a pattern that repeats itself continuously. When I wake up in the morning, I am similarly extremely short of breath and can only make my way to the couch—bent forward at the waist—to perform my inhalations. My breathing improves once I begin inhaling. Throughout the day, too, I experience intermittent episodes of sudden breathlessness that seem to come out of nowhere. I have Salbutamol to treat this (which helps little to none at all) and Berotec (which provides slightly better relief). However, neither of these helps much—if at all—with the shortness of breath I experience when trying to fall asleep, and they do absolutely nothing to alleviate the need to sleep on my stomach. Unfortunately, I have to say that my outpatient clinic doesn't really address the issue of breathlessness at all. I’m not sure exactly whether this is simply because there is no treatment for it and I just have to accept it as is, or whether they perhaps don't quite believe me—since (naturally!) I never happen to be experiencing breathlessness during my appointments there, and my FEV1 levels are still quite good. Therefore, I wanted to ask if you have any ideas on how to improve my sleep situation, or if I simply have to resign myself to it. Could this possibly be a sign that I need supplemental oxygen at night? Thanks in advance. Best regards.
17.05.2026
Vaccinations
Good day, My daughter’s new primary care physician (my daughter turns 18 in July) has recommended several vaccinations in light of her cystic fibrosis. Specifically, vaccinations against shingles, as well as meningitis types A, C, W, and Y. She is currently in a stable condition while on Alyftrek®. Additionally, she has type 3C diabetes and occasionally deals with kidney stones. In the past, she had ABPA and was colonized with Pseudomonas; however, neither of these is currently an issue. Would you recommend the aforementioned vaccinations? Thank you for your professional assessment. Kind regards,
17.05.2026
Specific measures to prevent germ transmission
Hello, I have cystic fibrosis and a six-year-old son who stays with his father every other weekend from Friday to Monday. Unfortunately, there seems to be a drainage problem in his apartment, with sewage backing up. At least, the pipes have been clogged quite often, and water from the toilet has backed up into the shower. To fix this, my former husband always calls a plumber. What should I do if my child has been there and this happens again? I don't know when this happens and when it doesn't. If my child comes home with clothes that aren't obviously dirty, do they still need to be taken off and washed immediately? If so, is a 60-degree wash necessary, or is 40 degrees with a disinfectant sufficient? What about sports clothes that the father washes there and dries on a drying rack in the hallway? Up to now: The child came home as usual, washed his hands, and spent another one to two hours at home in his clothes. In the evening, he had a bath. His clothes are washed at 40 degrees with disinfectant as well as the sport clothes after sports lessons at school when he comes home. Unfortunately, communication with the father isn't the best. So I don't know if there was another "drainage problem" that weekend or not. The child only mentions these things occasionally, and I don't know if their imagination is overactive. Therefore, if any measures are necessary, I would like to implement them in a way that doesn't burden the child and protects my health.
20.02.2026
Spermatozole
Hello, My 10-year-old son was diagnosed with and had a cyst removed from his left epididymis (spermatozole)... could this be a symptom of cystitis fibrosis?
20.02.2026
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