Topics

Amniocentesis
I am a carrier of the CF mutation N1303K, and more specifically of the heterozygote mutation N1303K (c.39C9, exon 21, Genctype IVS8 polyT:7T/9T). I have been checked for 46 common mutations (greek panel). I am 13 weeks pregnant. My husband will be checked, but we will have the results in one month. In case my husband is a carrier will the amniocentesis show for a 100% if the fetus has CF?
06.04.2015
Question about finger clubbing
I am 22 years old and recently my doctor noticed that I have finger clubbing (I never suffered from serious respiratory infections, nor do I have an important medical history). I did blood and urine tests, a chest CT, a spirometry, a thyroid check, heart and abdominal echo, and an ECG, without any pathological results. My doctor concluded that it is a case of idiopathic finger clubbing. During the investigation I consulted a pneumonologist, who did not rule out the possibility of CF (although he thinks it is very unlikely). The only symptom I can report is that I have many secretions, without coughing. I have stopped smoking since two weeks ago. Should I get tested for CF?
02.04.2015
Meaning of MCT oil (Medium Chain Triglyceride)
Hello, I discovered the existence of these oils by chance, educating me on the composition of coconut oil that I often use. I was challenged, of course, by mentioning their interest in the context of poor absorption of lipids and thus of cystic fibrosis. But, in addition, some manufacturer mention their use for weight loss (which we really don't need!) because those oils result in a faster satiety. I would therefore like to know if specific research had been conducted on the real effect of these oils (also used, I think, in some infant formulas). Is the reason, that we have never been recommended to use these oils is rather due to their exorbitant price or due to the lack of proven effectiveness? Thank you, in advance, for your clarification. My best wishes for better health every reader!
02.04.2015
Ghrelin (a hormone of appetite)
Hello, I am a mother of a CF little boy who has trouble eating enough, because of a lack of appetite. I know you've already talked about this and that the factors are numerous, but I also wanted to know whether the role of ghrelin was studied in cystic fibrosis. Is it the same concentration in patients who are struggling to gain weight? Is a supplement of this hormone is possible and has already been tried? Thank you in advance for clarification. Best Regards.
02.04.2015
Sweat test below 10 however symptoms in spite of this
Hello, We are parents of a 2-year-old boy. He has not really gained weight since he was one year old and has eaten not well. We found it striking, that his head tasted very salty and that he had bowel movements very often. A sweat test had been negative (not even in the borderline range) and we were told not to worry anymore. Now a vitamin A deficiency has been diagnosed and as we informed ourselves, this does i.a. occur in case of CF. As we nourish our child rather healthy and balanced (much vitamin A containing vegetables including oil) we cannot explain this. Furthermore, he has had recently recurrent airway infections, that we could handle well with herbal drugs and inhalation via pariboy. What else can we do in order to have real security that he is suffering from CF or not?
02.04.2015
Test for CF
Hello, I have a rather simple question, does every child, who is undergoing a sweat test, suffer from CF? We had two IRT tests that were not in the normal range and now we have to undergo a sweat test. Is there any hope, that we are not having CF? Thank you and best regards,
02.04.2015
CF baby and dog
Hello Our 4-month-old son suffers from cystic fibrosis. We have a dog that is a full member of the family but since the announcement of the disease we no longer know what precautions to take without going overboard. What precautions should be taken to avoid contamination of our son? For example: - Do we have to wash our hands after stroking the dog? - Should it be swimming more often? Thank you for your help.
02.04.2015
Laundry
Is it better to wash clothes of my 3-year-old CF my daughter in isolation or may it be mixed with the clothes of all the family?
02.04.2015
Vitamins and nutritional supplement
Hello, our child tends to an ADHD like behaviour. Often exceedingly restless, impatient etc., in many questionnaires about ADHD a diagnose has been assured. We have been at two specialists, one diagnosed undoubtly an ADHD, the other disclaimed... Because of the illness of CF I prefer the variant, not to give Ritalin additionally, especially because the diagnosis is unclear. Now I have read that krill oil is also helpful in case of ADHD - can I try this unproblematically? Do I have to give a dosage a bit higher than the recommended one because of CF (of course with Kreon)? Or could it also be a vitamin deficiency (especially C), that plays a role in here? Thank you for your answer
02.04.2015
Carbapenems
Hello, in the past time, an i.v. therapy (four times in 6 months) has been done several times in order to fight the bacterium Achromobacter xylosoxidans. This has been always very successful with Imipenem/Cilastin and 3-4 weeks no further intake of antibiotics had been necessary. However, again and again dyspnea, irritative cough and increased Achromobacter reoccur. Basically, there is no problem, as the i.v. therapy is still well effective and FEV1 returns to the good starting point of about 65% (even if under irritative cough the value is around 50%). However in daily life and for timely reasons, it is not easy to do an i.v. therapy every 4 weeks. The overall health condition is good otherwise. Is there any antibiotic drug from the group of Carbapenems that can be taken orally or via inhalation? Or could one inhale something? I remember, that Colistin for fighting the PA has also been recommended to be inhaled by the physician, long before the license for inhalation was given, even if on the package it could be read that it deals with the i.v. solution. Many thanks
02.04.2015
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