Hi there, my name is Josh and my niece passed away from CF last May. I know every person who is diagnosed is diagnosed with like some sort of number with it. What classifies what number you have and what do they stand for?
the average CF patient has a pair of delta F508- two delta F508s. this is what causes the disease.
there are slightly different cases, but that covers the majority of the CF population.
myself, i have one delta F508 and G551D as a pair. G551D is a different mutation, meaning it affects the cellular wall differently than delta F508. for some, their symptoms can be less severe.
G551D is the mutation that the new drug, Kalydeco, works towards correcting the workings of the cell wall. there are other drugs they're working on now (VX809, for example- it's the early name for the medication, like how VX770 was for Kalydeco) that work on further correcting the workings of the cell wall, to make them all work- and make CFers have fewer symptoms.
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there are slightly different cases, but that covers the majority of the CF population.
myself, i have one delta F508 and G551D as a pair. G551D is a different mutation, meaning it affects the cellular wall differently than delta F508. for some, their symptoms can be less severe.
G551D is the mutation that the new drug, Kalydeco, works towards correcting the workings of the cell wall. there are other drugs they're working on now (VX809, for example- it's the early name for the medication, like how VX770 was for Kalydeco) that work on further correcting the workings of the cell wall, to make them all work- and make CFers have fewer symptoms.
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