Wonder if anyone else has heard this

[Jshet22]

I had my son at his neuro. Doc on Monday, and was discussing his upcoming appointment with a geneticist because of all of his other diagnoses and odd symptoms unrelated to his cf. she said it was funny I brought that up because tomorrow, (meaning Tuesday), they had someone coming to discuss the possibility of no longer using genetic testing for diagnosing cf. instead relying on the sweat test and clinical symptoms. (They also have a cf clinic ran out from the same satellite office). We has so many other things going on during his appointment that I really wasn't able to actually think about this until after his appointment.
just wondering if anyone else has heard this?
jshet

 

[Aboveallislove]

I haven't but imnho that's wacked! If anything they should be doing genetic as the gold standard...sweat test is great first easy answer but f symptoms and clinical presentation is consistent and no other diagnosis they should be dong full gene sequencing....

I had my son at his neuro. Doc on Monday, and was discussing his upcoming appointment with a geneticist because of all of his other diagnoses and odd symptoms unrelated to his cf. she said it was funny I brought that up because tomorrow, (meaning Tuesday), they had someone coming to discuss the possibility of no longer using genetic testing for diagnosing cf. instead relying on the sweat test and clinical symptoms. (They also have a cf clinic ran out from the same satellite office). We has so many other things going on during his appointment that I really wasn't able to actually think about this until after his appointment.
just wondering if anyone else has heard this?
jshet

 

[Ratatosk]

It is odd, especially since drug companies are now tailoring meds to specific mutations...

 

[Jshet22]

after having a chance to think about it after leaving his appointment, it sounded crazy to me too. Like I said I was pretty concerned about my sons new neuro. symptoms that it didn't sink in what she was saying until later. I can't wait for my sons next cf appointment in January to see what his doc has to say especially since he does work out of that satellite office also. Just incase anyone is wondering these are children's hospital doctors.
i will share what his cf doc has to say after we see him next time.

 

[Aboveallislove]

Please do update. And so sorry your son is having more issues. Please know of prayers.
hugs
love

after having a chance to think about it after leaving his appointment, it sounded crazy to me too. Like I said I was pretty concerned about my sons new neuro. symptoms that it didn't sink in what she was saying until later. I can't wait for my sons next cf appointment in January to see what his doc has to say especially since he does work out of that satellite office also. Just incase anyone is wondering these are children's hospital doctors.
i will share what his cf doc has to say after we see him next time.

 

[stephen]

That's absolutely ridiculous! I can't believe a geneticist would say such a thing.

It's just the opposite!

There are many here who have negative sweat tests and thankfully were only correctly diagnosed with genetic testing.

Just think for a minute. How would they decide who would benefit from Kalydeco, Orkambi, or any of the new drugs in the pipeline.