Re: DeltaF508 R117H variant/Appetite

[Guest guest]

,

The test for the culture came back with nothing after we had already started

the Tobi+something. His coughing did go down to normal levels and all of

the other symptoms went away. Recently he tested positive for strep and

they put him on an oral antibiotic. I get the impression that they will do

a clean-out periodically if he is having any type of symptoms.

Thanks for the info about the variant testing procedure. I get the

impression that my CFC is not too familiar with R117H.

Regards,

Dad of Jordan 2yowcf

Re: DeltaF508 R117H variant/Appetite

Hi ,

The variant test procedure is the same as the regular test for

mutations.

They draw blood and send it off to the lab. So that part's

super-quick. It

took Meagan's variant test (done at the state lab of WI) about ten

days to

come back, but our regular mutation testing had taken a month

because it was

sent somewhere else. Go figure.... Not all labs can determine which

variant

a child with R117H has (and for that matter, not all pulms. are

familiar

whith how important 5T or 7T can be in influencing phenotype in a

person

with R117H). I know that U.N.C. does, because that's where Sue had

Kenzie's

blood sent for variant analysis. And likewise that the WI state

labs do it,

because that's where our pulm. sent M's blood for variant testing.

I also

know that Genzyme (one of the big genetic testing labs) can

determine

variants. Your pulm. should be able to locate the most convenient

lab near

you that can determine whether Jordan has the 5T, 7T, or 9T

variants. Good

luck :-)

It's interesting to see the range of different approaches pulms.

take with

CF. I had also read somewhere that the clinics that use antibiotics

most

aggressively have the best results, measured by the highest PFT's in

their

patients. Has your pulm. done a sputum culture to see what bacteria

Jordan

was growing (you said he was on Tobi, didn't you?)? Did you see a

big

difference in Jordan's health after the hospitalization?

Nice to see you on the list :-) Always nice to have another " rare "

R117H

around.

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

---------------------------

[Guest guest]

I am sorry it was staph not strep that Jordan had recently.

Re: DeltaF508 R117H variant/Appetite

Hi ,

The variant test procedure is the same as the regular test for

mutations.

They draw blood and send it off to the lab. So that part's

super-quick. It

took Meagan's variant test (done at the state lab of WI) about ten

days to

come back, but our regular mutation testing had taken a month

because it was

sent somewhere else. Go figure.... Not all labs can determine which

variant

a child with R117H has (and for that matter, not all pulms. are

familiar

whith how important 5T or 7T can be in influencing phenotype in a

person

with R117H). I know that U.N.C. does, because that's where Sue had

Kenzie's

blood sent for variant analysis. And likewise that the WI state

labs do it,

because that's where our pulm. sent M's blood for variant testing.

I also

know that Genzyme (one of the big genetic testing labs) can

determine

variants. Your pulm. should be able to locate the most convenient

lab near

you that can determine whether Jordan has the 5T, 7T, or 9T

variants. Good

luck :-)

It's interesting to see the range of different approaches pulms.

take with

CF. I had also read somewhere that the clinics that use antibiotics

most

aggressively have the best results, measured by the highest PFT's in

their

patients. Has your pulm. done a sputum culture to see what bacteria

Jordan

was growing (you said he was on Tobi, didn't you?)? Did you see a

big

difference in Jordan's health after the hospitalization?

Nice to see you on the list :-) Always nice to have another " rare "

R117H

around.

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

---------------------------