Re: CF testing/JillG

March 1, 2004

Gosh, Jill, coping with illness is bad enough, but crawling through

the trenches to get diagnosed is the pits! Lots of hope and love, and

so glad you have a good gastro guy! Love, n Rojas

CF testing

Hi,

Well, it's done (or nearly done). I saw my gastro guy this morning- a man I

adore. I wasn't sure how he'd react to my getting sweat tested and to further

DNA analysis. He agreed with both! So, I've already been to Quest to have the cf

DNA analysis done and they are looking into whether I need to go to Yale for the

sweat test or if I can go to a local hospital. He already said one of the local

hospitals (my favorite, actually) doesn't have a large enough pediatric section

so he disqualified it right off the bat. However, he thinks the other local

hospital might be ok for it. They're making some calls and then will let me

know. So, within the next few weeks I'll know, for sure, if I'm just a carrier

or if there's a 2nd mutation somewhere.

Love,

Jill

March 2, 2004

n

You won't believe this one. It just goes to show that the patient is his/her own

best advocate- and that the internet is a wonderful thing.

Last night, I went online because I had a bug in my head about the dna testing

because it seemed noone could tell me how many mutations the test included. So,

I went to the Quest site and started roaming around til I found the test that

was ordered. Fortunately, I had written down the name of the test and the test

code before turning the lab slip over to the tech. I was aghast to find it only

tested for 25 mutations and something like 9 polymorphisms. I went nuts. That's

totally useless to me. I saw something called CF Complete and thought it looked

pretty good. I tried calling a number for their genetics dept to get more info

but got voicemail, I think. Then, I remembered that at 1 time I had the number

for client services so I dug it out and called. I got a LIVE person. It was

about 9:30 pm. She checked her computer and I was already in the system so I

explained everything to her without telling what I thought was the appropriate

test. She then said that the CF Complete would definitely be the one I would

need. She was even kind enough to give me the test code so my doc's office

didn't have to look it up. But, the sample goes to California so I had to call

1st thing this morning and have the doctor's office call Quest to cancel the

original test and order this one. It got done!! The bad thing is that the

turnaround time is 6-7 weeks, but that's ok as long as I know they are doing the

right one.

Never a dull moment