Topics

Lung Clearance Index-European location
Dear questioner, First of all thank you for your prompt answer. I am interested in taking the Lung Clearance Index test in a European country where we can comunicate in english/french and where it isn’t so expensive. I am thinking first of Vienna or Spain (if we can comunicate in english) or somewere in France. It is important that they accept foreign patients. Thank you. Happy holidays.
22.03.2012
amniocentesis
Hello, I had a son diagnosed with CF (homozygot delta F508). If we decide to have another child, will the amniocentesis test all the chromosomes or just the chromosome responsible for CF. Is it possible that we, the parents, might have other mutations besides deltaF508? How many mutations exist in CF? Is the deltaF508 the most severe? At what gestational age do we have to take this test and how long does it take before we know the result?
22.03.2012
cystic fibrosis
What are the chances of survival or rehabilitation for my 6 month old boy, if he is alway in the hospital and his status is worsening every day. Some people tell me one thing, others tell me a differrent thing and I don’t know what to think anymore. Please write to me.
22.03.2012
Kreon and pancreatic sufficiency
Our child is a heterozygot for deltaF508 and R1070W, with minimum clinical manifestation so far (pancreatic sufficiency, no pulmonary complications, just episodes of severe dehydration). At 3 years of age he weighs 15 kg and is 102 cm tall, he has solid, normal stools. He never recieved Kreon or other pancreatic enzymes. In this case, of pancreatic sufficiency established by pancreatic elastase, should we administer Kreon or other pancreatic enzymes? What about vitamins A, D, E, K supplement? Thank you very much for your answers.
22.03.2012
mutation classes and effects
My daughter has a h1054d, often classified in articles as a missense class 4 mutation. Her 2nd mutation is 4021inst. I have been told that it was a frameshift mutation. In my web researches, frameshift mutations are said to be class 1 mutations. Mutations 2, 3 and 4 are always missense mutations: am-I right? I do not rely completely on the web, even if the papers I read were in French and English. Moreover, the gene has 2 different mutations. How does the cell deal with the CFTR production process? It produces a troncated protein that is eliminated because it’s not well synthesized (thanks to the class 4 mutation) or/and it produces a defective protein because of the class 4? How does the cell know what to do? Thanks for your help, regards.
22.03.2012
Ivacaftor US
Hello, the drug Ivacaftor is now being marketed in the United States, is it prescribed routinely to all carriers of the mutation in question? Is it going to be the same in France when it has his license? When can we have details of the concrete effects (hopefully very beneficial) in patients and possibly talk about a therapeutic revolution if any?
22.03.2012
Furniture of the treatment room
We would like to make our physiotherapeutic section more suitable for CF patients. What do we have to take into account and where do I find information about his? How many rooms do we need? Many thanks!
22.03.2012
Searching for a dentist
Hello, I am searching for a good dentist for a CF child in our region [comment from ECORN-CF: the question was from Germany, concrete names were left out]. The dentist in our home town and a pediatric dentist refused to treat our son, and sent me to the next university hopspital. There I also have been told, after I have shown the handout from our CF-center (external surgical motor, etc.) that they are not going to do it. They gave me the telephone number of the State Chamber of dentists of our federal state, however, there they did not know either, which dentist is equipped in which way. Where do all the other CF patients go to the dentist? A list in the CF center would be great, however is unfortunately not available, there. Could you help me further? Many thanks!
22.03.2012
Class II & III muations
I am fairly new to learning about CF but have accepted the baby has this and the mutations are Class II & III. The little one is now 6 months and 2 wks old and so far the health has been excellent, not even a slight cold. The weight gain on average is about 0.64grms per week and his CF clinic are happy with this. He has been on an antibiotic twice daily since diagnosed at 3 weeks and physio twice daily. His motions are normal and started weaning at 20 weeks and Creon not as yet required. I understand that suddenly problems could arise and no doubt will but does this seem a fairly promising beginning for someone with these mutations? When reading about CF and jumping on the CF Forum I can't help but note that most other babies with classic mutations are showing some early symptoms. Being salty has never been an issue either. No sweat test has been carried out but the faulty genes have been identified in myself and my husband and also 2 of my 3 brothers so it is conclusive. Thank you.
22.03.2012
cf
my brother has Cf F508del/E822X is this considered a mild form since he only has pancreatic insufficency and no other problems?
29.02.2012
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