ecorn-cf: App. question list

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Experinces with a rare fungus: Can anybody tell me his experience with the rare fungus "Trichosporon asahii"?; 17.01.2012

Mutation Class Assignment for Q493R: My daughter carries the delta508 and a rare Q493R. Can you please help me understand the mechanical defect of this protein caused by this sequence variation Q493R. My best guess from literature is that it is Class III (defective channel regulation). Thank you!; 16.01.2012

VX770: I know although VX770 is probably soon to be licensed it is still very early days. However, what I have read is that this should considerable help a CF patient with G551 gene. PRESUMING this medication opens the 'gate' it is said that although not a cure this should control CF in the same way that Insulin controls Diabetes. Again PRESUMING this works as hoped should this keep CF under control? I am also confused as if a person only has one CF gene then they do not have CF. Therefore if a person with for example the common gene and G551 should this still control the CF? Also if this medication works as forcast by Vertex and together with the combined medication for F508 Delta when eventually available are we hopefully looking at the majority of people with CF will live normal lives although not cured and in time require much less 'physio etc. as at present? I look forward to your reply. With thanks.; 16.01.2012

ABPA: I am 31 years old and have CF and diabetes. At 13, I had ABPA for the first time and was treated with cortisone. I had the second ABPA (RAST class 4) in fall 2006 and was treated with Decortin H® (prednisolone) for one year, starting with 50mg. My current IgE is at 519; in addition, the specific IgE shows RAST class 3 concerning. A.fumigatus. My FEV1 has dropped by 12% (now 71%), particularly the small airways by half (MEF 25 is at 25%, Sultanol®/salbutamol does not help much). An HRCT has not been done yet. I was told than an X-ray, which was done after a pneumonia that has worn off after an i.v. therapy, did not show any “discrete infiltrates.” Which therapy would be appropriate now? Would a cortisone pulse therapy be an option (50mg for three days)? Should I take Sempera® (itraconazole) as well? Many thanks in advance for your effort.; 16.01.2012

N1303K mutation: Hello, I have a question. Although I am aware that the course of illness is different for each mutation, I would like to know how the course will be roughly with the N1303K mutation. My daughter is three years old and has not had any lung problems so far, except that she gets exhausted quickly. We are taking Creon® (pancrelipase) and Ursofalk® (ursodiol) and are inhaling with 6% saline solution. I also noticed that her heart is not beating rhythmically. We went to the doctor and he suggested a 24-hour ECG. Could she already be getting heart problems and how should this be treated? Is a 24-hour ECG sufficient? Thank you!; 16.01.2012

DeltaF508 carrier: Hello, I have a son with CF and am a DeltaF508 carrier. I have severe mucus obstruction problems – both in the upper respiratory tract and gynaecological – with constant infections and frequent flatulence/stomach ache. I was already diagnosed with “hypersensitive brochial system” with significant values. I was prescribed an asthma spray even though I do not have asthma. My sweat test is negative. I was told that it is impossible for me to have CF. I nevertheless think that my medical troubles – which, by the way, are present in a direct line in my family tree without CF ever having been noticed – are related to the DeltaF508 gene. I also think that there is still considerable need for research. Is there a study I can participate in?; 16.01.2012

cf assosiations in Greece: I am a mother, used to fighting. One of my children has CF. It is still young and the problems are few for now. There are days, however, that I do not feel strong. I think why this thing had to happen to me, why must my child and my family pay for a medical mistake, how can I make my child strong to fight the disease, when I feel so week before death. It is very difficult for a mother to raise a child with an expiration date. What can you say about it all? Is there a way to get support through the internet? Will the global financial crisis affect the research for the cure of CF?; 12.01.2012

Sweat test: Hello, The sweat test result of my daughter is very high (above 250). I thought I read that above 150 it could be a technical error. What it really? Are such results common?; 12.01.2012

Siblings – yes or no?: Hello, our daughter (CF patient, very good and stable course of illness so far) is now two years old and will start kindergarten in April. We had originally planned to have two or three children. After the diagnosis about two years ago, this was not really an issue for some time. In the meantime, however, we think it would be possible to risk having a further child… Our daughter has the Delta F508 and G542X mutations. What do you think about family enlargement? Getting a further opinion would certainly be helpful in making a decision. Many thanks and kind regards. PS If I look at our daughter’s development, I cannot understand that CF falls under the Pre-implantation diagnostics law…; 12.01.2012

Pets: Is it necesary for a CF patient to take extra measurements and for instance not have dogs ?; 10.01.2012