ecorn-cf: App. question list

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cystic fibrosis: Hello, my name is Loredana, and I have a wonderful child who has very often problems with the lungs and bronchi. We’ve made several investigations, including sweat test, and the result was 54mmol/L. In every hospital we went they gave us antibiotics like erythromycin and Salbutamol nebulization, but the diagnosis every time was obstructive bronchitis. My question is: do I have to worry that my child has CF? Is it necessary to make other tests?; 06.11.2013

State of research?: Dear expert team, How far advanced is the current state of research on VX809 really? Is there a chance for this drug to be released to the market this year (2013)? And is it correct that it is only applicable to the Delta F508 homozygous mutation – and only to patients in very bad general condition? (Which, if it were the case, one could not understand as a patient.) What happened to Ataluren® – the results were insufficient – and so there is currently nothing in the pipeline for the R1162X stop mutation? This means that the only drug currently on the market is Kalydeco® for the G551D mutation. Which is great! I do think it is awesome that medicine has seen such major breakthroughs despite everything – but I am also worried – time is running out, particularly if one has two different mutations Delta F508/R1162X. Many thanks for your answer.; 04.11.2013

Borderline sweat test results/genetic testing: Hello, I am a woman of English descent living in Finland and my family has a history of cystic fibrosis. I have a history of nasal polyps, recurrent pancreatitis, recurrent sinus infections and intestinal ileus. I also have a fatty liver and pancreas divisum. My gallbladder was removed because of sludge in 2001. I had recurrent bronchitis and pneumonia as a child, but my respiratory symptoms have since disappeared. I discussed the possibility of atypical cystic fibrosis with a doctor in Finland, and she reluctantly allowed me to take a sweat test. The result was 44, which they consider completely normal here in Finland (anything under 60 here is normal, and only results over 80 are considered affirmative). They refuse to do any genetic testing. Is it possible to travel to another country for genetic testing? Thank you.; 04.11.2013

ABPA – very severe course of disease: Our daughter (eight years old, CF) contracted ABPA out of the blue in September, with a very severe course of disease. Previously (over the past twelve months), there had been repeated instances of slightly increased IgE levels around 300, but that did not seem alarming). She shows the known symptoms within a few days and then, within 48 hours, has acute dyspnoea, very strongly pronounced soft tissue emphysema, among other things bilateral pneumothorax, and finally the inevitable intubation. Upon being admitted to the hospital, her IgE levels were at 320 and rose to more than 3000 within two weeks at the hospital, whereupon ABPA was diagnosed. She has been treated with cortisone for one week. The last blood sample, just one week after beginning treatment, showed that the value increased even during cortisone therapy (50mg daily), namely to almost 4000. Is this a typical course of ABPA? Wouldn’t our daughter additionally need an antifungal drug? Being laypersons, we are very worried that the fungus actually has a walk-over with the current therapy (antibiotic and cortisone). Blood sugar is elevated, but currently still at a range where insulin should not be necessary. Many thanks for your quick answer.; 04.11.2013

Diagnosis?: My grandson’s gene test yielded the following result: Heterozygous TG10/TG12 and heterozygous for the 5T variant IVS8:TG12-5T/TG10-7T in the pyrimidine tract. We were told there is a 90% chance that cystic fibrosis can be ruled out. But what about the meconium plug at birth and then the ileus at three weeks? The little one turned two months yesterday and is now back in the hospital. Would you advise us to present to a specialized clinic? His defecation is still difficult, although it has improved a bit after taking Creon®. Kind regards and many thanks your effort.; 04.11.2013

The pill & increased liver values: Dear expert team, I would like to know if there is any experience concerning the contraceptive pill and increased liver values in women with CF. Since the pill is supposed to slightly increase the liver values even in healthy people, I would like to know what to keep in mind when taking the pill as a CF patient. Would you generally recommend taking ursodeoxychloic acid together with the pill, if it has not been taken so far? Apparently medical opinions differ here – is ursodeoxycholic acid generally considered a standard therapy in CF, or does one only start taking it when alterations in the liver become evident? Many thanks and kind regards, Mother of 16-year-old CF daughter; 22.10.2013

Chloramphenicol in enzyme compounds: [Please note that this question was originally submitted in Germany; both question and answer therefore refer to the German production context of Creon®.] Hello, We just recently learned that our 2.5-year-old son has cystic fibrosis. He had severe pneumonia in the summer and due to the strong artificial respiration the lungs were ruptured. He was therefore moved to a different hospital for ECMO therapy and was diagnosed with cystic fibrosis there after waking up. We are just at the starting point of this diagnosis. Given that I work in the food production industry and have access to the rapid alert notifications issued by the EU border checkpoints, I was horrified to see that enzyme compounds from China and India have repeatedly become suspicious with chloramphenicol. Since chloramphenicol is an antibiotic used for pig fattening, I am wondering whether it can be contained in Creon®. This would of course be fatal for antibiotic therapies. I will commission a lab over the next few days. However, it would be interesting to know if you have any information on this issue.; 22.10.2013

CFRD (CF-related diabetes): When do we speak of CF-related diabetes? When should be started with insulin according to the guidelines? Can a tablet also reduce the glucose?; 22.10.2013

Paleness: Dear expert team, My daughter is 8 years old and has CF (F508 del homozygous). Her oxygen saturation and lung function are good, and everything else has also been okay so far. She is very pale, so that after a picture was taken of her recently, she said she looked like a vampire. What can I do so that she picks up some colour? I pay very close attention to her diet. Many thanks in advance for your answer.; 22.10.2013