Topics

Combination of the mutations c.650A>G and F508del
Dear expert team, In the frame of the genetic counseling the named mutations have been found in my boyfriend (F508del) and in me (c.650A>G). We are aware of the fact, that in case of family planning the probability is 25% to get a child suffering from CF. 1) Do you know anything about this combination? 2) How could the course of the illness be? 3) C.650A>G is a very rare mutation and we have been told, that it could rather be classified as to be mild. I have read in this forum, that a mild mutation would be essential for the prognosis. Could you make a statement concerning this concrete combination? I thank you very much for your answer.
04.06.2016
Sleep and stomach pains
Hello Our son is 8-months-old. He was diagnosed at birth (deltaF508) and presents especially digestive symptoms improved by Creon (approximately 9000 before cq meal). We are very bothered because he never had a complete night since his birth. He falls asleep alone in his bed but has at least 2 night awakenings (until 8 or 9 when he is sick - cold -) We think that he has stomach pains: he's often very constipated (we give him Hepar in the day) and he has a lot of gases especially at night. What could we do? It is getting tiering for him and his older sister with whom he shares the room and als for us. We read the previous answers on e-corn but they are rather older. Thank you for your advice.
04.06.2016
Insulin
A doubt about insulopenia was expressed concerning a child a little over 4 years old following an OGTT (oral glucose tolerance test) one year ago. It was concluded that it has glucose intolerance without diagnosis of diabetes to date. Would the risk of diabetes be decreased if that child received a small dose of insulin every morning? Should it be mandatory that blood sugar is measured before an insulin injection (regardless of dose)? Is there any risk of insulin dependency? Is there a risk to take insulin too early in case diabetes would be diagnosed in a few months or years? And finally, what about a possible oral treatment with repaglinide for example? We thank you in advance for your answers.
04.06.2016
Fever in a 11-months-old child
Dear expert team, My daughter is 11 months old and has been diagnosed a few weeks ago. Now she has slight fever (37,8°C)…when shall I present her at the CF center? What should I do now? Many thanks! S.S.
13.05.2016
Leaky gut
My question is about an illness named leaky gut. My question was if this could not also frequently occur in patients with CF, especially if they are taking antibiotics frequently. And if yes, would a gluten-free nutrition help also? Many thanks for your answer.
13.05.2016
Private swimming pool
Dear expert, We are Belgians living in Portugal. Our son is 18 months old and has CF. What is your opinion about CF and a private pool (not with friends but one which we maintain ourselves)? Is a pool with saltwater preferable (partly chlorine) or one with only chlorine? Or do you recommend none of them? I already read some questions about pools, but not about the difference between saltwater pools and chlorine pools. Thanks in advance. Regards, L.
13.05.2016
Salt for nose cleaning
Hello, I'm 35 and I have cystic fibrosis. I have been cleaning my nose for 8 months with the rhino horn device. This allows nose cleaning with a very large amount of water and I find it very effective. Besides, I have less infection than before. To make it simple, I use warm tap water and table salt. But I was recently told that table salt, in the long run, would damage nasal walls and kill the cells of smell. If this is confirmed, is there another less aggressive salt? (I have heard of iodine-free salt, fluoride-free salt or salt to replenish but I admit not knowing what to take). Finally I wish to continue, where possible, to use warm tap water and add salt instead of a sodium chloride solution, to be heated in the microwave for convenience. Thank you
13.05.2016
Transmission risk
Hello We are expecting a boy. As part of prenatal diagnosis, the father and I made blood screening for cystic fibrosis. Initially, the results came back negative (with the set of the thirty most common mutations). However, this Friday we learned I was carrying an unknown mutation of the gene cftr (not referenced and which we do not know if pathogenic). On the side of dad, pushed test was also made clear and negative. The lab concluded that a risk of 1/200 for the baby. This result seems very high to the extent that the father is healthy and I confess that 37sa this type of result is very worrying. Thank you in advance for lighting you can give us
13.05.2016
Diabetes
Hello, Have pancreatic sufficient patients also an increased risk of diabetes? Will so much prevention in form of a healthy diet be really working or is the cause purely genetic and nothing can be done? Thank you
13.05.2016
Orkambi®
Good evening, I have read the side effects of Orkambi®. What are the results of studies in countries that prescribe this treatment for a couple of years now (regarding these side effects)? Best wishes
13.05.2016
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