ecorn-cf: App. question list

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PTC 124 / Vertex VX-809: My son has the following mutations: 1717 1g --> A (class I mutation) as well as s549R (class II mutation). “1717 1g --> a” is a class I mutation. More precisely, it is a splice site mutation which, however, triggers a stop codon. Is PTC 124 effective with this kind of mutation? The other one is a rather rare class II mutation. Provided that a pharmacological drug for the d508 mutation will be developed in the future (e.g., VX-809), could this drug be effective with the S549R mutation as well?; 24.03.2009

Probiotics: Hello, I recently read about the positive effects of probiotics. A Russian researcher wrote about their positive effects on the immune system. I wanted to ask about probiotics and CF. Can one take probiotics for an extended period of time during the winter months? Is it advisable to take probiotics on a regular basis during an antibiotics therapy? Many thanks for the answer, Ingrid; 24.03.2009

Percentage of CF patients in EU countries: Hello, I am curious about whether the percentage of CF patients in EU countries (examples: Germany, Czech Republic, Netherlands, Belgium) is roughly the same everywhere in relation to the total population. Fictional example: Country X has a total population of 100.000, of which 10 people have CF (i.e., 0.01% of the population). Country Y has a total population of 10.000. Can I assume that the percentage of CF patients is 0.01% here too (i.e., 1 person), or does the it vary significantly? Many thanks for your effort.; 24.03.2009

Allergy Aspergillus: My 16 year old son has CF. He is allergic to the mould aspergillus. For that reason, he has very high IgE values (8200). His lung function is poor, he feels tired all the time, he coughs a lot. He loses weight because he has no appetite. In the past, he was treated with prednisone and that decreased the values of IgE. Now he is again taking prednisone 2x30 mg per day. He also had 7 injections of Omalizumab. But now the value doesn’t want to drop. What could be the cause and are there other medicines?; 23.03.2009

Maybe CF: My son of 3 might have CF. Is being tired a sign of CF?; 17.03.2009

Not enough weight gain - emptying of the stomach - addendum: Dear Dr. Posselt, Many thanks for your answer, especially the answers to points 1) and 2) helped me further a lot. To point 3) I forgot to mention that my son can eat solid food very well, however this amounts to nothing more than 3 chips, 5 noodles and half of a fish finger. Of course not everything together but in the best case only one of those. A disorder of swallowing or something like this has already been excluded. He normally does not even try new things. An eating therapist did also even give up with him. I am convinced that the problem would be solved if he would ever be hungry. I have stopped to get upset about this - he hopefully will not suck his bottle (which he by the way does not like either) at the table at the age of 18. For me it is important that he is eating and gaining weight porperly. Until now he has just been with height and weight always under or just on the 3% percentile. That the height stays back in comparison to the weight is something new. Many thanks!; 09.03.2009

Not enough weight gain - emptying of the stomach: Dear expert team, my son (4 years 11 months, CF, Delta F508 homozygous) does not gain weight properly since birth (2.500g, 4 weeks early). At the moment he weighs 15 kg at a height of 100cm. 1) Emptying of the stomach: It is striking (he vomits occasionally due to strong cough) that even after 4 hours he vomits nearly complete meals (which are weighed by us) including enzymes. Is a problem in empyting the stomach frequent in CF? What could be the causes and how could they be corrected? At the age of 6 months there has been an endoscopy of the stomach once (without a pathological finding), as well as a pH-monitoring (borderline, omeprazole did not improve the situation). 2) lacking weight gain: due to an eating disorder, he nearly only eats baby puree from the bottle, that means both food (incl. calsahke) and enzyme dosage are indentical. It is now striking that the stool is very different: from obstipation (up to once a week) to diarrhea/fatty stools (even with maximal enzyme dosage) you find everything. I have the suspicion that the enzymes do not work properly, as they arrive at the wrong moment in the bowel. What can you do here? Or are there any other possible reasons? Blood-sugar tests show an impaired glucose tolerance (up to 180mg/dl), an oral glucose tolerance test is not practicable due to the eating disorder. Many thanks!; 09.03.2009

Children: Dear expert team, I am male and 29 years old. At the moment, I concern myself about the thought of a child. Could you tell me how the chances are and if it is possible for a male to have children, as they say that men with CF are in general sterile. How is the procedure passing with in-vitro fertilization? Do you have possibly some more information for me? Many thanks and best regards; 09.03.2009

Salin Plus: Hello, did you ever hear anything about SALIN plus? Are there any experience reports about that? Here is the link: http://www.salinplus.de A friend has drawn my attention to it and I would like to know if something like that makes sense or is nonsense. To me it sounds as if that would be a good supplemetary measure. I would be pleased to get a feedback.; 09.03.2009

Sports and CF: Which sports are not uniformly good for patients with cystic fibrosis?; 09.03.2009