Carriers screening
Dear Expert, In carriers screening, what is the preferred/recommended action when one of the parents has a known mutation that causes CF, and the other parent is negative to the standard 10 CF mutations panel (of his country). Please note, the mutation spectrum of the ethnic origin of the second parent is not well defined (there are no CF mutations that characterize his ethnic origin). Thank you and best regards,
Contact lenses
My daughter would like some contact lenses and I do not know if it is safe.
Kalydeco (VX770)
Have just read the devastating news on the CF Trust Forum that NICE are not going to recommend the 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!!!
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.
pools with demineralised saltwater
Hi we are going to an resort in turkey and they advertise that they are environmentally correct. and dont use drinking water in their pools. the water in their pools are sea water which is deminaralised (a bit of the salt is removed). its a newly restored hotel 4 star my concern is the safety of such pools using sea water we dont want pseudomonas in our daughters lungs again. Jan
What is the life expectancy of a baby diagnosed with CF in Canada?
Dear Expert, I have a 6 years old boy with 3121-1G->A and N1303K. He is PI (born with meconium ileus), and with regards to the lung disease he is not symptomatic. Can this genetics predict the severity of his lung disease? Can you know the molecular outcome of the 3121-1G->A mutation? Is this splicing mutation results with a nonfunctional protein? Can normal splicing happen in some frequency? Is there a drug in the pipeline for amending splicing defects? And another question with regards to 3121-1G->A, do you know when was the first time that this mutation was linked to Iraqi Jews? Thank you very much!
Aberrant Splicing Mutations and Ataluren
My 14 year old daughter has the two mutations DF508 and 621 + 1G > T. It is my understanding that the 621 + 1G > T mutation causes aberrant splicing of mRNA. How is that different from a nonsense mutation? Currently, I see that Ataluren trials are targeting nonsense mutations in Class I. Since 621 + 1G > T is in Class I as well, could Ataluren potentially help carriers of this mutation as well or will it work only on nonsense mutations? Thank you.
A Friends child
I suspect that a friends 1 yr old might have CF, he is ill every week, has had a cough since he was tiny, sicks up mucus and she tells me his stools are/were greasy. The only thing that buts doubt in my mindf is he is a very healthy weigh. I have hinted and even mentioned CF once but each time she goes to the doctor they just give anti-biotics and this week gave him Gaviscon for reflux. Should I say anything? Why hasnt it flagged up at the surgery?
vertex 770 and r347p
Dear team, my daugther FC has got mutation r347p (class iv). I red that vertex 770 could work on r117h (class iv too). Is the defect of conductance caused by r347p similat to the defect caused by r117h? Is it probable that vertex 770 can work also for r347p? In case it works for r117h, will it be possible to have vertex off label for my daugther and, in general, for patients with class iv mutations other than r117h? Thank you! annalisa (
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