Topics

Which mutation has more need for therapy?
Dear expert team, my son (4 years, CF) has the following known mutations: delF508 (inherited by me) and on the other allele R1070Q-S466X. The R1070Q is a missense mutation, the S466X is a nonsense mutation. In case of this rare combination, a marked pancreatic insufficiency has to be expected, and it is like this in my child. The new medications that are investigated, e.g. Kalydeco®, Ataluren® etc. are only suitable for one class of mutations. My question is the following: how can in the future be decided, which of the two (or of all three) mutations has more need for therapy? I hope my question ist understandable and thank you very much in advance.
09.11.2015
Mutation update?
In the year 2003 my genotype had been confirmed to be compound-heterozygous for the mutations DF508 and 405+1G->A. At that time, about 1300 mutations were known. Today the number is about over 2000. Would it be sensibel to have a new mutation update done after 10 years? It seems to be reasonable to me that possibly all patients know their mutation profil "in time" (knowledge for the participation in studies...etc.) Regards and many thanks, CF patient from Switzerland, 46 years old
09.11.2015
Long-term recording of lung sounds
Dear expert team, is there the possibility to record for a longer period of time (the night) the sounds of the lung and the cough etc. by a device (LEOSound). Can that be helpful in case of CF, e.g. for the diagnosis or for the control of the sucess of the therapy/ course of the therapy? Many thanks already for your advice. Here is an explaining video about the technique: http://www.youtube.com/watch?v=qu8lUOhssh4
09.11.2015
Disposable jetnebulizers
Hello, Our 19 year old daughter uses the PARI BOY with disposable kits for PULMOZYME, colistin and TOBI. Our service provider recommends us (on the advice of EMERA network) to stop using disposable kits and use a device that should be sterilized every day, why? In her student life, this is not manageable, disposable kits are so simple to use ... Are there any differences in efficacy of treatment? Thank you for your response.
26.10.2015
Negative CFTR gene
Dear, If I have a negative CFTR gene sequencing and a negative sweat test, am I negative for Cystic Fibrosis? Although the symptoms (constipation, polyps in the nose, transparent and thick mucus in the nose?) My daughters have also symptoms (one with dwarfism and constipation, the second with a negative sweat test, rectal prolapse and constipation). Thank you,
26.10.2015
DIOS in a toddler
Hello, the bowel of my one-year-old son has been purged 2 months ago. DIOS (distal intestinal obstruction syndrome) has been suspected. The physicians said that it would not occur at that age and that is was very unusual. He has had projectile voimting of his meals for several weeks and in the end refused to eat at all. After purging all the symptoms disappeared and he felt well. We were told to give macrogol in the mornings and the afternoon. Then he had again a phase of about 3 weeks in which he did not gain weight and his stools were more frequent and also not shaped. (We told it to the doctors of our CF center, but they rejected it to be irrelevant as he did not vomit). For some time he does not like to eat and for 5 days he is vomiting from time to time. Is it really so unusual or a very unusual course? Which possiblity do I still have to treat him? Thank you for your efforts, M.
26.10.2015
Diagnosis F508del and R1162X
Hello, my 11-months old son has been diagnosed to suffer from CF and F508del and R1162X have been detected. However, during the talk it became unfortunately not clear to me what kind of form it deals with here. Is that a rare combination? Can you make a recommendation for a CF center in North Rine-Westphalia [Germany]?
26.10.2015
Flower pots
Dear expert team, the teacher of my daughter put up flower pots in the classroom. Shall I ask her to put those away, due to a risk of infection with e.g. mould fungi or Pseudomonas aerugionsa?
26.10.2015
Infertility treatment, antibioitics
Hello, My husband (CF) and me, we are just before starting our infertiliy treatment. His gaining of sperms (TESE = testicular extraction of sperms) had to be postponed due to a flue. We are waiting till the infection is over, in order to have the operation done. However it is difficult to find a timepoint for him, when he is doing well, he is not taking antibiotics and the last intake has been some time ago. He takes about once a moth an oral antibiotic and every 3 months he is doing an i.v. with diverse antibiotics. In general he is doing fine, however the times without antibiotics are very rare. Is that a problem for the genetic material? To have a child is only possible for us by ICSI (intracytoplasmatic sperm injection) and in order to have a stable condition of my husband, an oral or an i.v. antibiotic therapy would assuminlgy always precede his TESE operation.
26.10.2015
Reconstituted medicine
Hello, I am a 34-year-old CF patient. I have a question about reconstituted medicine (powder medicine that is necessary to be diluted with water). For every day life, we have some hygiene recommendations on the use of bottled water that must not be kept open more than 24 hours, to prevent the development of germs. So when we reconstitute a drug we use bottled water. In general, it's indicated on the medications manual that after reconstitution the vial may be stored for several days (depending on the drug). Must we reconstitute a medication bottle every day (which means to have a "bigger" prescription) or must we use the same medicine bottle for several days (active ingredients that stabilize it to prevent the development of germs when diluted)? My request may seem stupid, but it's important for me and if someone can answer, it would allow me to "better live" these treatments, Thanks for your attention,
20.10.2015
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