Topics

Desire to have children
Dear expert team, My husband and I have an unfulfilled desire to have children. My husband was diagnosed with oligozoospermia. Subsequently, a heterozygous mutation R553X of the CFTR gene was found. Unfortunately, I was then also diagnosed with a mutation in the CFTR gene, namely R117H-T7. In case of a compound heterozygosity in a future child of ours - what would be the consequences? According to our human genetic counselling, a mild form of CF would be possible. What does that mean and how certain one can be? Many thanks.
04.03.2013
outdside games
Hello, Are public parks (slide, swing, etc) not recommended for children with cystic fibrosis? Thanks
04.03.2013
Eradication of Pseudomonas aeruginosa infection
My daughter cultured Pa at the last clinic visit. She was symptom free. The doctor prescribed 28 days of inhaled Antibiotic, and I asked to add an oral antipseudomonal, but she would not. Finished the 28 day cycle, and a week later my daughter has a raging lung infection and now pneumonia. I asked the doctor again to prescribe the oral antipseudomonal. Again she said no, and just told us to start another 28 days of inhaled antibiotic. We were told the oral antibiotic does not make a difference by a new doctor fresh out of her fellowship and entirely too conservative with treatments. I have read the research and early erradication of pseudomonas will give my daughter the best survival options. This is really starting to tick me off because I want a more aggressive approach, and she is being too conservative IMHO. I've talked to hundreds of patients and most who were treated with an inhaled antibiotic alone are now colonized with PA. Although they all still speak strongly that the inhaled is the only answer. ummm ok. I dont agree and I do not follow status quo. Research study being guidelines. We need to treat patients like individuals, but I am looking for any additional advice to back up my findings.
04.03.2013
G542X and another mutation
Hello, I just have a question of my daughters mutations (G542X and c.1210-2A>C). I'm in the states with no answers from anyone here. They said no one else has her two combined but she will eventually have lung disease! She has been diagnosed with CF but has no lung issues at all just gastroointestinal issues. But also have her on hypertonic saline and albuteral for preventative treatment, how long do we do this to prevent lung problems that are not there? My grandmother also had these gastointestinal issues but no one is concerned with her history. Any answers or advice would be great thanks.
04.03.2013
Cross infection and CF centre
Hello, we ask ourselves about the CF centre and hygiene during the visits. 1 - In fact, our children go from room to room, in the hallways, intersect with other children with or without mask, while in some countries the patients remain in a room and it is the staff who moves in a specific order (patients have color stickers on their cards depending on the dangerousness of their bacteriological status...)! Why is it not applied in our CF centre? 2- And especially in the CF centre of XX, at the FEV test, it is not uncommon to see several children in the same room to pass the tests ... they are close enough, and worse, the rest of the machine does not seem to be cleaned at each change, it seems they just change the nozzle (we must wait 10 minutes between exercises then return; in the meantime other patients realise also a test). Knowing the number of resistant organisms ... pseudomonas at the hospital ... we are seriously preoccupied
28.02.2013
towels
Hello, It is recommended that people with cystic fibrosis wash their bath towels every day. Does this apply also to all family members with their own towel? Secondly, what is the temperature for washing the towels? And should we iron clothes and bedlinen or is it unnecessary? Thank you.
28.02.2013
Are swimming pools an unnecessary risk after all?
Dear ECORN experts, It seems to be a common view that swimming in well maintained indoor pools is safe for people with CF but I'm starting to wonder if this really is so? I have discontinued my son's swimming lessons because he regularly had both staphylococcal and fungal infections in his upper airways. During the summer breaks, when he would only swim in a lake, the infections went away, but returned as soon the indoor swimming lessons started. The swimming pool is a modern reputable pool. Incidentally, I've also read that Sydney's newest swimming complex was closed down for an extended period late last year because of hard to treat pseudomonas outbreak. I also read an article about a young girl with CF in Sweden who is a champion swimmer but who was on the lung transplant list because of chronic PA - her twin brother with CF was fine. All of this makes me wonder if indoor swimming pools are worth the risk for people with CF after all? Whether a pool is well maintained is something that is very hard to acertain. There other as effective and safer forms of excercise such as running.
28.02.2013
Moisture and sea
Hello, We live in Casablanca with our 4 year old daughter who has cystic fibrosis. It is a city polluted by its industries, its untreated waste and a growing and unregulated car fleet. The climate is temperate with an average of 21 degrees (10 in winter nights and 28 in summer days). The moisture content is of the order of 70%. We are looking to get away from the city center but is the seashore a solution for it? It is always slightly windy by the sea. We can find housing between 200 and 500m from the beach. However, there is a high humidity outside. this can be controlled inside the house and mould can be prevented but is it enough? The sea spray, high humidity outside is this bad for his lungs? Is it healthier to go into the mainland, where the air is dry but less polluted? Thank you for the time you spend. Sincerely, Ms. S.
28.02.2013
R709X and V4SEA?
Is there any known info about the V4SEA mutation along with R709X?
28.02.2013
Ataluren
Hello, My son has a mutation concerned by Ataluren, I would like to know if new results have been publish regarding Ataluren development? Thank you in advance.
28.02.2013
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