ecorn-cf: App. question list

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Topics

Diagnostics / Desire for a child: I am a German gynecologist and have a medical practice in France. I have a patient who has a desire for a child and whose sister has CF. Which diagnostics should be made?; 26.02.2013

Mutations: Hello, can you tell me what these changes has, by drawing on the answer given here: http://ecorn-cf.eu/index.php?id=65&L=5&tx_expertadvice_pi1[showitem]=2125&tx_expertadvice_pi1[search]= My son has two mutations, DeltaF508 and CFTRdup2_18.; 18.02.2013

stroll: Hello, My son is 7 months old and has cystic fibrosis. I love going for walks. But I wonder if there is weather to avoid: Rain, fog? Or a good walk is always good to take? Thank you very much!; 18.02.2013

Cirrhosis of the liver: Hello, My daughter has been diagnosed at the middle of december to have a very severe fibrosis of the liver with beginning cirrhosis. Is it not mandatory that she will be put on a waiting list for liver transplantation immediately? Unfortunately, the CF physician is very hesitant, which I do not understand. Probably you could tell already an opinion about this. We can only talk to the doctor at the beginning of january. Of course, this does not get out of our minds.... Best regards, H.O.; 18.02.2013

hygiene: Hello, I have a two year old child with CF and was wondering since when did we become aware of the importance of hygiene? And if with all this chlorination does cystic fibrosis actually progress more slowly? Is there data on this subject? On the other hand if you are very strict concerning hygiene at home, it is necessarily less on our friends, families ... (you can not ask them not to use sponges and bleach every week) ... Is the risk of infection via these people really important? Should we deny our children with cystic fibrosis to use toilets, showers, sinks that are not ours? Should we ask the people who use sponges to wash their hands immediately after? I thank you and congratulate you for your support for families!; 18.02.2013

Cross infection Pseudomonas aeruginosa: Hello I am afraid of my daughter catching a pseudomonas infection in our cystic fibrosis center. The policy at the clinic does not separate patients with pseudomonas from patients without pseudomonas. Is this ok and what is recommended on other clinics? A concerned parent; 18.02.2013

Rare CF mutations: What percentage of the UK population carries a rare mutation for cystic fibrosis (excluding the 50 most commonly found mutations)?; 18.02.2013

Rare CF mutation risks?: What is the risk for a white British male having a rare mutated CF gene? The 50 most common have been tested for and have come back as clear for mutations. I have recently been found to be a carrier of a common mutation following blood tests after my baby was diagnosed as having an echogenic bowel at 20 weeks gestation. As a result my baby has been given a 1/20 chance of having CF. My partner's blood sample is being further tested for rarer mutations. I would like an idea of how likely it is my partner is a carrier of a rare mutation. If my baby's echogenic bowel is gone at our next scan will his risk of having CF decrease also or stay at 1/20 because it was seen at 20 weeks?; 18.02.2013

Kalydeco®: Dear expert team, I am a 24-year old girl suffering from CF. I come from Bulgaria, where there is no European standard therapy and no CF-experts either. That means that I get information about new drugs from German and English articles. I have read several times about Kalydeco® (for G551D). I know that it can already be bought in Germany. My first question is: how can someone from Bulgaria buy Kalydeco® from Germany and how much does it cost? This is very important for all patients with this mutation here in Bulgaria. I have the mutation F508del and 3849+10KB. I have also read about other drugs like VX 809 and VX 770 in combination with Kalydeco®. To my understanding, they are still in the second experimental stage. Do you have actual information if they will be on the market, soon? Is there also a combination of these drugs that refer to my mutation? Best regards, N. A.; 05.02.2013

Staphylococcus aureus: Hello, my 6 month old daughter has cystic fibrosis and has already Staphylococcus aureus (10 000/ml) in her sputum. Is it serious? Isn't it too early? No treatment has been done at the moment but I'm worried ... Thank you for your response.; 04.02.2013