Topics

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
Christmas tree
Hello, due to our daughter's (2 years old) CF diagnosis, we are wondering this year whether we can set up my real Christmas tree with a bowl of water, or should we use an artificial tree to prevent germs from forming in the water?
20.02.2026
Cataract while taking Kaftrio/Trikafta®
Hello, Are there any experiences regarding cataracts in adolescents taking Kaftrio/Trikafta®? Can lenses be replaced in cases of cystic fibrosis, and must the medication be discontinued if cataracts develop? Thank you in advance for your reply. Sincerely,
20.02.2026
Cysts of the pancreas
My son has cysts on his pancreas and his sweat test result was 53. What does that mean?
20.02.2026
Cross-infection in the ambulant setting - complete
Hello, since I forgot some points, here they are again (sorry!) I have a question that's been on my mind. What happens if two CF patients meet outside of the CF clinic in a doctor's office, and one of them has a problematic strain of Burkholderia Cepacia? Does the patient with the problematic strain also have to wear a mask in the doctor's office? What is the risk in the following situation: the doctor's office had to be crossed twice. The first time, there was a greater distance, and the Cepacia patient wore a mask. The second time, it was in a hallway, with a distance of just under one meter. The Cepacia patient wasn't wearing a mask and said "Goodbye," but the patient without Cepacia wore an FFP2 mask and just quickly walked past, disinfecting his hands immediately after leaving the office. There was no treatment or waiting in the same room, as the doctor's office only had to be crossed twice briefly. Is there any significant risk in this situation? What's it like when you're sitting together in the waiting room? Or being seen one after the other in the examination room? The question might sound a bit odd, but since the CF clinic has even introduced special days to avoid such encounters, I'm wondering if it wouldn't be better to switch general practitioners, or if this is completely over the top. Another question: If you do get infected, are you only contagious to other CF patients? Can you not infect your own children and other family members as long as they don't have CF? And: If you have Kaftrio/Trikafta® and an excellent lung function (FeV1 94%, MEF25 98%: How long do germs survive on clothing after such contact? Best regards
20.02.2026
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