VX770 - Kalydeco
The child in question has G551 and F508 Delta mutations. For us VX770 provides great hope and just pray soon such a drug will be available to all other CF patients. I have read as much as possible on this drug but do not see information that I would wish to know. As a person with one faulty gene does not have CF then if VX770 considerably helps the G551 does this mean the quality of life will be so vastly improved that it makes the second gene, in this case F508 Delta irrelevant? Also does VX770 only improve lung function or also help pacreas insufficiency? If the drug works as well as expected would you presume daily 'physio would lessen? I look forward to your answer as I submitted a similar question awhile back but did not receive a reply so unsure if it actually reached. Thank you.
CF Centre in Mallorca
Is there a specialised CF centre for children in Mallorca?
delta F508 and R1070W
My boy 3yo has been diagnosed with CF heterosigotus of delta F508 (7T-9T polimorfism) and R1070W (in exon 17b This mutation R1070W alters an arginine into a tryptophane on amino acid position 1070 of the resulting protein (p.Arg1070Trp). He never had pulmonary infections and is pancreatic sufficient (faecal elastase is normal). He is 100 cm and 15,5 kg. He has been diagnosed as result of several severe dehydration through perspiration, at the age of 7-11 monts. The sweat test had three different values(but was 68 after several days of NaCl perfusions, then 59 done 3 weeks after the perfusion was stopped, and 49 - few months later). He now receives Humana Electrolytes with every glass of water and daily aerosols 4 ml of 3,5 concentration of NaCl. He has normal abdominal echography. We have investigated, and at the echography and surgeon control (hand touch), it seems like he might have deferent vases. What would be the prognosis in his case? How can I realize his lungs are affected over time? Thank you.
follow up the disease
My baby has deltaF508 and R1070W and is almost healthy (details are in a previous question). How do you recommend to treat the baby so that we do not tantalize with many investigations but also keep on eye on the disease. E.g. it was recommended to me to do monthy analyse of sputus, but I see this quite an invasive investigation as long as he has no pulmonary symptoms yet and has no sputus. I currently do throat and nose exsudat for every cold he has. But is it enough? Thank you
Hi there, My daughter is currently 7 months old with G551D as one of her mutations. I just wondered if the drug is approved this year in the 6yrs and older subset can it then be used in younger children with the dosage ammended accordingly? Or would they need to carry out a clinical trial in younger children first? Thanks, Jess
I have a grandson 4 months old who has CF (Delta 508F and G551). To date he has shown no signs of his condition and thriving well. I have had a chest infection and completed a course of anti biotics. I feel well but do still have a cough which I feel will take awhile to clear. Obviously I have kept away from my grandson but as I feel back to normal can I now be in contact with him or must I wait until the cough has completely cleared? Thank you.
Classes of genes
What are the classes of CF gene mutations? Thank you
In what class is R1070W?
I know although VX770 is probably soon to be licensed it is still very early days. However, what I have read is that this should considerable help a CF patient with G551 gene. PRESUMING this medication opens the 'gate' it is said that although not a cure this should control CF in the same way that Insulin controls Diabetes. Again PRESUMING this works as hoped should this keep CF under control? I am also confused as if a person only has one CF gene then they do not have CF. Therefore if a person with for example the common gene and G551 should this still control the CF? Also if this medication works as forcast by Vertex and together with the combined medication for F508 Delta when eventually available are we hopefully looking at the majority of people with CF will live normal lives although not cured and in time require much less 'physio etc. as at present? I look forward to your reply. With thanks.
Mutation Class Assignment for Q493R
My daughter carries the delta508 and a rare Q493R. Can you please help me understand the mechanical defect of this protein caused by this sequence variation Q493R. My best guess from literature is that it is Class III (defective channel regulation). Thank you!
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