Topics

Chance of Cystic Fibrosis
Our son is 16 months old and has not shown any symptoms of cystic fibrosis. However, during prenatal genetic testing, we found that he had inherited two CFTR variants: c.358G>A (p.Ala120Thr) from me and 5T/TG11 from his father. Given these findings, is there a significant risk that our son could develop respiratory problems, male infertility, or any other health issues related to CFTR later in life? Thank you very much for your time.
06.07.2026
Sterilize inhalers in the steam cooker
Hello, we are buying a new kitchen and are considering having a built-in steam cooker installed (NOT a combi-unit with an oven). Would it be possible to use it to sterilize the inhalation equipment for our 3-year-old daughter (who has CF) in the morning and evening? We currently use a vaporizer that does the job, but we could get rid of it and have one less appliance cluttering up the counter... What are people's experiences or recommendations regarding this? Our daughter currently inhales saline solution using the accessories for the Pariboy Junior®. There are steam cookers with a "baby bottle" function, and I imagine that should serve the same purpose as a standard sterilizer, right? If so, I’d appreciate some information on the correct procedure—specifically, whether the equipment always needs to be dried immediately, or if "wet" inhalation straight from the closed steamer is also an option. Thanks!
29.06.2026
Hair loss due to liver cirrhosis?
Hello, Our 18-year-old son has CF-related liver cirrhosis; his liver function tests, vitamin levels, etc., are checked every three months. He takes Kaftrio and Kalydeco. For the past few weeks, he has occasionally mentioned experiencing increased hair loss. I have read that this can indeed occur with liver cirrhosis—though I haven't been able to determine whether such a deficiency symptom can still arise even when supplementation is regularly monitored. The supplement he takes contains the following vitamins and minerals: vitamins A, D3, E, K1, C, B1, B2, niacin, B6, biotin, pantothenic acid, zinc, selenium, and coenzyme Q10. Our son eats a varied and healthy diet, exercises regularly, and is extremely attentive to his health. What is your assessment of this hair loss issue, and are there ways to counteract it? Generally speaking, this is a relatively minor problem, but I fear an 18-year-old might not see it that way. Thank you very much for your reply!
29.06.2026
Asbestos sheets on the neighboring property
Hello, I have a question: we have a very large yard, but at one spot, a neighbor has placed broken asbestos sheets right next to our fence—maybe a meter away. His chickens are now walking all over them. I am really unsure about the level of risk this poses specifically for me, given that I have cystic fibrosis (female, early 30s, good lung function). The good thing is that we hardly ever spend time in that particular area. Our children's playground is about 10 meters away, on the opposite side of the property. How dangerous is this for our health—or specifically for mine? Please give me your assessment, assuming these really are asbestos sheets.
29.06.2026
Retired anesthesiologist - ABPA
In 2019/20, my 49-year-old son was on the verge of being listed for a lung transplant due to hemoptysis when Trikafta arrived and turned the situation around. He has also had ABPA since the age of six and received high doses of cortisone for it as a child. He has type 3 diabetes and grade II fatty liver. Now, his IgE levels—which had been elevated for decades—have risen further, and he has felt somewhat less physically capable, though this coincides with recurrent viral infections accompanied by bacterial superinfections (e.g., *H. influenzae*). His lung function has declined slightly over time. Unfortunately, I cannot provide specific figures because I have stepped back from monitoring his treatment and diagnostics. However, I am now alarmed because he is undergoing oral steroid treatment combined with antifungal therapy and a reduction in his Trikafta dosage. Wouldn't corticosteroid therapy alone be sufficient, if treatment is needed at all? A suspicion was also raised that *Pseudallescheria* might be the trigger, though this could simply be a case of colonization. Thank you very much for your dedication!
29.06.2026
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
<<  < 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10  ...  341 >  >>