Topics

Sequence of inhalation and sports
I have a question on the sequence of the therapy building blocks: I first use the Flutter®, since the mucus is rather easy to loosen in my case. Which sequence is more sensible afterwards: First inhalation (with Mucoclear® and colistin or Tobi®, respectively) and then sports? Or first sports and then inhalation? Thank you and kind regards.
10.07.2012
delta F508 and G542X
My son has delta F508 and G542X. Can you tell me anything about children with CF with the above genes and how they are affected. Many thanks
10.07.2012
pseudomonas in swimming pools
may I allow my child to go swimming?
10.07.2012
cystic fibrosis and the use of air freshener
Is it safe to use an air freshener (in this case fabreeze®plugin) around the home
09.07.2012
394delTT and Ataluren (PTC124)
My two children (aged 6 months and 2.5 years old) have cystic fibrosis and one of their mutations is the class I frameshift mutation 394delTT (a.k.a., the scandinavian mutation). 394delTT encodes a stop codon in exon 4.
09.07.2012
p.Phe1078Ile
My one year daughter was diagnosed with CF a year ago because of malnutrition, sweat test borderline and single deltaF508 (ex 11 CFTR). Direct sequencing test revealed another absolutely new mutation - p.Phe1078Ile (or c.3232t>a) in exon 20 CFTR - which has never been described in any database before. I was told that it is not clear whether with this mutation - c.3232t>a - the CFTR function is abolished or residual. It is also not clear whether this mutation is desease causing or not. This mutation was not found in 110 unrelated CF chromosomes and that is how the dx was confirmed genetically. The mutation has been entered into CFTR database after that. The clinical picture of my daughter is unclear: slightly elevated IRT level, sweat test - one negative and one borderline, fluctuating level (high-low) of potassium in serum (low level of potassium is considered as pseudo-barter syndrome - which may be an atypical presentation of CF), plus some vomiting and malnutrition in the past (but all these things are quite common for new babies), she doesn't need enzymes. Other things went quite well. We are doing all treatments and preventive measures - and she is doing like a normal 1 (almost 2) y.o. girl (without CF). Have you ever seen p.Phe1078Ile before? Can you please point me in the direction of some resources for p.Phe1078Ile by itself, or in conjunction with single DF508? Is it a rare missense mutation or it is a different category this mutation falls into? How this can be that my daughter is the only person with c.3232t>a in the world?
09.07.2012
Contact lenses
My daughter would like some contact lenses and I do not know if it is safe.
09.07.2012
Kalydeco (VX770/Ivacaftor)
Have just read the devastating news on the CF Trust Forum that NICE (National Institute for Health and Clinical Excellence in the UK) are not going to recommend the National health service (NHS) provide Kalydeco in UK and want to know your thoughts and any suggestions on this to get it available? Obviously as much media coverage as possible I imagine. Whilst NICE relates to England and Wales I believe Scotland and N Ireland also more or less follow what NICE recommends. Although only a small percentage of CF sufferers have the G551 gene the availability of Kalydeco was going to be seen as a major step to a better life for all CF sufferers. To those who do have the gene they have been waiting so long for it to be approved here it is just like being stabbed in the back and given a death warrant. Here is for the first time a drug that would improve and lengthen lives so much and now they are once again being sentenced to a slow, sure death. To think NICE are categorically stating this before the drug is even approved. Only the extremely rich will benefit in UK as far as I can see. It really is heartbreaking. I know in the past this has happened with Cancer drugs etc but sometimes the new drug was only going to add a few weeks to a persons life but Kalydeco looked like it was going to be a new beginning for those who would benefit from it. I believe in UK, according to NICE you could apply to your local Primary Care Trust but we all know they will not have funds. This being turned down will also ask the question of why our CF adults and children should risk drug trials for no benefit to them in the end. This is so unfair!!!
09.07.2012
VX770 and R347P
Dear Team, I refer to the question you have already (partly) answered before. I think the more concrete questions is: if VX770 will help R117H - how likely is it that it can work on R347P (or any other class 4 mutation which is not a gating/class 3 mutation)? It is difficult to understand the differences in the mutations themselves. I thouhgt that R117H has a gating defect as well as G551D (reduced channel open time), and R347P has a conductance problem. Thank you very much for you answer.
09.07.2012
modeling clay
Hello, As a Psychologist I work with children with CF, I question the use of modeling clay with children: is it possible to use the same clay from one session to another with the same child? Or better throw it in the end of each session and take a new, unused, at the next meeting to avoid the risk of infection? thank you for your response.
09.07.2012
<<  < 178 | 179 | 180 | 181 | 182 | 183 | 184 | 185 | 186 | 187 | 188 | 189 | 190  ...  342 >  >>