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Topics
- Genetic analysis – interpretation
- Hello, our six-month-old daughter was diagnosed with CF a while ago. My husband and I have taken a gene test which returned the following result. The following molecular genetic result has been determined for our daughter: heterozygous mutations delta F508 (exon 10) from me, and G542X (exon 11) from my husband. What exactly does this mean for our daughter regarding 1) progression 2) potential participation in clinical trials for new drugs 3) standard therapy 4) potential future gene therapy? Does she have classic CF or a rather rare form? Many thanks for your answer.
- 07.09.2010
- Treatment of a long-term germ colonization
- I have been living with the CF diagnosis for a long time. Today, the doctors think that it is not CF but “only” COPD with bronchiectasia. I have several infections every year which are always treated with antibiotics in tablet form (for several years now mostly cefuroxime and moxifloxacin). Often an infection does not announce itself with signs of a cold but I get a fever within a few hours and an ulcerous smell from the lungs can be detected. Correspondingly, the sputum is green. Since the infect comes without any signs of a cold, I suspect that my lungs have been permanently colonized by germs which get the upper hand and are pushed back again with antibiotics. Due to this process, I worry about resistances. I actually heard about a new treatment option for long-term germ colonization of the bladder: a drug (perhaps an antibiotic?) is placed directly into the bladder and its effectiveness is altered with the help of electricity. This way, the drug can reach places that are otherwise difficult to access. My question now: Is there a similar procedure for the lungs as well? Many thanks for your answer!
- 07.09.2010
- Place of residence
- Hello, your daughter (7 months old) has CF. We would like to move from Berlin into a little house in the "countryside" (small town). The treating clinic can be reached within a half hour. Our question is aiming at the climate in the countryside, which is located at the brink of a low moor area. Are there any indications of dangers or effects such a climate could have on the disease? Other than that, we think that the air in the countryside might be better than that in the big city. Many thanks for your answer.
- 07.09.2010
- Schuessler salts in addition to traditional medicine
- Dear expert team, one always strives to do the best for one's child and against CF. Now my question: can it be reasonable to draw on naturopathic treatment in addition to traditional medicine, or will there not be a positive effect? I actually am someone who does not really believe in it, but if taking Schuessler salts would make a positive impact, for instance, one could perhaps combine the two. If you are experienced in this area, what would you recommend? Thank you for your answer. Regards.
- 07.09.2010
- Multiple sclerosis with CF
- Dear expert team, I am a female CF patient, 43 years old, and have been in a good general condition lately. After a sensation disturbance in the left side of my body (from hands to feet) the MRT showed old and new centers of inflammation in the brain. Do you know of any patients who have CF and MS? [Translator's comment: a question geared specifically at German CF centers and doctors was omitted in the translation.] Kind regards M.N.
- 07.09.2010
- Zithromax®/azithromycin
- Dear expert team, I have a question: does it make sense to administer Zithromax® three times a week? Are there any objections concerning resistances? Which side effects have to be expected? Many thanks.
- 07.09.2010
- Moving out
- Hello, we have a question. Our son is 31 years old, of excellent health and has now decided to buy an apartment. We are a bit concerned now whether he will continue to be as healthy when living alone and whether he will be able to work long-term. We know that this is a difficult issue. Many thanks for your support.
- 07.09.2010
- Keratoconjunctivitis (sicca)
- Is keratoconjunctivitis (sicca) in any way related to cystic fibrosis?
- 07.09.2010
- In cis / in trans
- Hello, what does it mean if mutations were found in cis or in trans? Many thanks. Kind regards C.M.
- 07.09.2010
- Spontaneous mutations
- Hello, As I said before, our daughter has been diagnosed with atypical cystic fibrosis (CF). Following this diagnosis, we did a gene test and it turned out that only one of us is a gene carrier. My questions: how frequently do spontaneous mutations occur? The human genetics laboratory would now like to test my daughter’s blood as well. Many thanks. Kind regards C.M.
- 07.09.2010
