Re: DeltaF508 R117H variant

July 1, 1999

Hi ,

Yeah, I get the impression that the only two CF centers in the US which ARE

familiar with R117H are NC and s Hopkins. No way we're making a cross

country commute to a CF center, though ;-) Both our pulm. and the peds.

pulm. CF nurse practitioner told us when Meagan was diagnosed that we'll

" all be learning along together. " I HATE that. Meagan's been a " learning

experience " for a lot of members of the medical community already in her

short little life, and I'm not looking forward to years of continuing the

trend, with her having to " educate " people about a-typical CF. I don't

think our pulm's seen a PS child wcf before, and she insisted through much

of the diagnostic process that Meagan just couldn't have CF and still have a

negative sweat test. And of course we had to sort out what Meagan having

the 7T variant meant in terms of her dx, and then the positive NPD test

finally cleared up all the confusion. I figure I need to be way-educated

about the odd characteristics of R117H, because no one else out there seems

to be very familiar with it. Our pediatrician at our HMO is still

half-convinced that even though Meagan has a positive NPD and a CF genotype,

that she'll never fully develop the disease-- wish he was right, but the

positive NPD kills any chances of that :-( Oh well, let's just keep

learning along together and get this R117H thing all figured out :-)

, mom of Meagan 4 (cf, asthma), Kailin 6 (asthma)

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