Topics

Legionella
Hello expert team, Legionella has been detected in our water supply (in a multi-apartment building). What can we do now? Best regards,
17.05.2026
Chalazion / Hordeolum under therapie with Trikafta®
Hello, my two-year-old daughter has been taking Trikafta® (=Kaftrio/Kalydeco®) since October 2025. Since December, she has been suffering from meibomian gland dysfunction and constantly gets hordeola. She also now has a chalazion that has become encapsulated and isn't healing. Several forums, and a case study on PubMed, have shown that many people have experienced this since starting Trikafta. Our clinic is against discontinuing or reducing the dose. This can't go on like this. Why is this happening, when Trikafta is supposed to improve secretions, and what else can we do?
17.05.2026
Leaves and ABPA
Dear ladies and gentlemen, I would like to describe the current situation at our daycare center to you and request a response. Outside on the playground, there is an area designated for planting, where—naturally—leaves tend to accumulate during the winter months. Currently, whenever we are out there, both the children and the educators sweep these leaves away; the walkway—which my children, of course, also use—runs directly alongside this area. One can catch the earthy scent simply by walking past, and every time this happens, I feel a sense of unease—particularly given the risk that a child, while shoveling, might accidentally fling soil (which is already spilling onto the walkway anyway) in the direction of my own children. Both of my children have cystic fibrosis. Aspergillus has also been detected in my older child's lungs, and he has already begun treatment for it. What kind of pathogens could one contract in this situation? Is it merely fungal spores, or is there also a risk of Pseudomonas or the dreaded Burkholderia cepacia? It has already been established that the children must not come into contact with these substances; however, the current situation still causes me a great deal of anxiety. Are my concerns well-founded, or is it safe for me to allow them to walk along that path? We are currently in the settling-in phase, so I am present on-site and keeping a close eye on things. However, the educators are not being particularly vigilant; in fact, just today, my younger child was nearly hit by a shovelful of soil and leaves—something I only managed to prevent by rushing over to intervene. What is the situation regarding the water pump on the playground? While the water itself flows out clean, I am concerned about the catch basins. There are three of these basins, and the water flows from one to the next before eventually seeping into the ground. If the pump were to be used during the summer, the water would stagnate and accumulate in these basins. Would it be safe for my children to play with this water? Thank you for your response. Sincerely,
17.05.2026
Unrenovated house
Hello, I have cystic fibrosis and live with my family in a partially renovated house. This means the areas I live in are newly renovated, while a section that's currently only used for storage is unrenovated. The heating system, which also provides hot water, is located in this section. Connected to this storage room is a sink, which we don't use in our daily lives. Unfortunately, the boiler can't be set above 65 degrees Celsius. It heats to 65 degrees for two hours a day. My husband runs the water from the sink once a week to reduce germs; I'm not in the room during this time. Afterwards, he washes and disinfects his hands. I know that heating to 65 degrees isn't ideal, and I'd like to ask if it poses any risk to me if I don't use it at all – could aerosols be transferred to me on his clothing, or is that completely irrelevant? In another question, you said that transmission of such germs via clothing is negligible. I'm particularly concerned about Burkholderia cepacia and mycobacteria. And: There's an old bathroom – the water supply is shut off, but the drains in the bathtub, toilet, and sink are still there. My husband flushes these with about twenty liters of water weekly. I'm not in the room when he does this. Is there any risk involved? Thank you! PS: In the long runs, the room will be renovated, and the sink and boiler will be removed. So these are temporary solutions. A year and a half ago, the boiler was set to a lower temperature and was deemed dirty during maintenance, so it was disinfected with chlorine. Now it's set to the maximum temperature, and my husband makes sure to run the water regularly.
17.05.2026
Chance of Cystic Fibrosis
Good evening and best wishes, Three years ago, following a routine prenatal screening, we discovered that I am a carrier of the E822* (p.Glu822Ter) mutation and that my husband is a carrier of the N1303K mutation. I am currently 16 weeks pregnant, and after prenatal molecular testing of the trophoblast, we were informed that the fetus carries the father’s mutation in a heterozygous state and not mine. However, a 6T/TG13 allele was identified in a heterozygous state, which, after repeat targeted testing, was found to be inherited from me. Therefore, I carry one pathogenic mutation and the polymorphism in trans. I do not have cystic fibrosis, nor do I have even mild symptoms suggestive of a mild form of the disease. Given that this allele has been classified as of unknown clinical significance, could you please inform me about the probability that the fetus may develop typical cystic fibrosis? Thank you very much.
17.05.2026
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
<<  < 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10  ...  341 >  >>