Re: wont order DNA testing!

October 16, 2002

Hi Krystena,

I am absolutely with you here! So why do those morons think the NPD test was

developed? I don't need it when I have a positive sweat test, it was

especially developed to dx those patients with negative sweat tests.

But since Caden is only 4 and it's difficult to run a NPD on young children

(they have to sit quiet for at least 30 minutes with a needle in the nostril

and one in the arm) I would still opt for the DNA test. Ambry Genetics

(www.ambrygen.com) tests for all known mutations for 285 $. Compared to the

hospital bills that have already piled up to find a diagnosis this is

peanuts. And those docs still have a sick child without a proper dx, so I

can't understand why they don't do the DNA test. Yep, the probability that

Caden has CF has become much lower with the negative sweat test, but it's

obviously wrong to tell you that CF has been ruled out through that. And I

can't believe what you say about the Kentucky CF center. I would ask for a

written prove of that statement and report them to the CFF.

Strange enough, if you have searched the archive for horror dx stories, you

may have found the messages from Rojas. She said she was told the same

(no CF diagnosis without a positive sweat test) from s Hopkins in

Baltimore but when I emailed Dr. Pamela Zeitlin to verify that, Dr. Zeitlin

immediately replied that no one from s Hopkins would ever say something

like that. Rojas disappeared from the list, so I don't know how the

story ended.

There is something like " CF-like disease " . s Hopkins has just fnished a

study with 9 (not sure about the number) patients, who all have CF like

symptoms (especially digestive problems) but even a complete gene sequencing

couldn't find any mutation in the CFTR gene. Tricia from New York had her

son in that study. She is on no mail but if you search the archive

waaayy back for Tricia, and New York you'll find her. The addy hasn't

changed.

Hope you'll find a diagnosis before you have killed one of those jerks :-))

Peace

Torsten, dad of Fiona 5wcf

e-mail: torstenkrafft@...

wont order DNA testing!

> Well,

>

> Now I am fuming!

>

> They will NOT order DNA testing nor the NPD test for Caden!

>

> Not with a normal sweat test!

>

> Now what? She said that his ped. could order it..

>

> Now, I will have to convince her to do it.

>

> I am so aggravated.

>

> help!

>

> Krystena s

October 16, 2002

Do you feel this pediatrician will honestly listen, maybe say if this were your

child what would you do, you want to be sure and put all unanswered questions

behind you and rest easy. It took way too long for the first diagnosis and

several people messed that one up...Beg them to put your mind at ease, maybe

even cry tell them you need to know for sure and this is the only way to rule it

out most definitely. We will all pray that someone will give you what you need.

Take Care

wont order DNA testing!

Well,

Now I am fuming!

They will NOT order DNA testing nor the NPD test for Caden!

Not with a normal sweat test!

Now what? She said that his ped. could order it..

Now, I will have to convince her to do it.

I am so aggravated.

help!

Krystena s

October 16, 2002

In a message dated 10/16/2002 3:34:54 PM Central Daylight Time,

krystena@... writes:

>

> Well,

>

> Now I am fuming!

>

> They will NOT order DNA testing nor the NPD test for Caden!

>

> Not with a normal sweat test!

>

> Now what? She said that his ped. could order it..

>

> Now, I will have to convince her to do it.

>

> I am so aggravated.

>

> help!

>

> Krystena s

>

Don't give up! After reading all that you have been through I think you know

how to do that. So keep up the good work! It's for you child. Deb A

October 16, 2002

In a message dated 10/16/2002 3:34:54 PM Central Daylight Time,

krystena@... writes:

>

> Well,

>

> Now I am fuming!

>

> They will NOT order DNA testing nor the NPD test for Caden!

>

> Not with a normal sweat test!

>

> Now what? She said that his ped. could order it..

>

> Now, I will have to convince her to do it.

>

> I am so aggravated.

>

> help!

>

> Krystena s

>

Don't give up! After reading all that you have been through I think you know

how to do that. So keep up the good work! It's for you child. Deb A

October 16, 2002

Krystena,

Are you near Louisville, KY? If so, maybe you could visit the

Cinncinnati, OH CF Care Center. Cinncinnati is only about 2 hours

away from Louisville. Maybe someone on this list can tell you about

the Cinncinnati CF Care Center?

Good Luck and Hang in There!

Gale

> Torsten,

>

> So, are you saying that I should get the clinic to put that

statment in writing? If they do, (sure they wont) but if they did,

can I sue them? ha No, really... can I?

>

> The lady whom I was talking to was named Marcy and I have the 800

number (1- extention:8830) , if you would like to call

her. Sounds like you have a lot of knowledge in this department. She

had me call the hosp. where Caden had his sweat test to find out what

kind of test is was (Gibson Cook),. I had to call her back with the

info. and she said that she had even went to talk with the doctor

about Caden and he said that they ONLY use the sweat test! No CF if

NEG. sweat test and those who do have a DNA mutation are not really

CFers! I may call them back and ask them to once more tell me this

while I let them know I am recording it. I have a recorder for the

phone line. Would you.

>

> How about me doing this with my son's GI dr. Or would he know the

real facts? Are GI dr's familiar with the neg sweat test deal?

>

> Do you think that given the option to make a statement in writing

or order the tests, he would do it. Kinda sounds like black mail....

but hey, if it works. I hate to be like that but if they felt

suspicious enough to order the sweat test to start with, why not

finish the complete testing. It's not like we are talking about an

asymptomatic child here. We are talking about a child with

practically every CF symptom there is!

>

> How would I get the tests done by Ambry? What is the procedure?

Mailing address, etc?

>

> I will have my son's ped to do it.. If I can. Your are right, 285

is nothing compared to the " time (labor) and energy " I have invested

in getting the proper tests for my son..

> I would get the $ for the tests if his ins. wont' pay for it.

>

> Please, keep the advice coming!

> Krystena

>

> wont order DNA testing!

>

> > Well,

> >

> > Now I am fuming!

> >

> > They will NOT order DNA testing nor the NPD test for Caden!

> >

> > Not with a normal sweat test!

> >

> > Now what? She said that his ped. could order it..

> >

> > Now, I will have to convince her to do it.

> >

> > I am so aggravated.

> >

> > help!

> >

> > Krystena s

>

October 16, 2002