-J's DNA results and a few questions please help!!!

[Guest guest]

Hello everyone- Well we went to our 2nd CF clinic yesterday and found

out that they still have found only the one copy of Delta-f508 and

nothing else out of the 82 they tested him for. They tell me they

still think its Cf. I asked what else could this be and they said w/

all his symptoms- cf. We seen a good dr. this time, They have

switched his albuteral every 4 hours to Duoneb 3x aday, and his

pulmacort to a stronger dose to 0.5 2x a day and also he started

(reglin) I think our bottle has the generic name but I think its

reglin on top of the zantac for the reflux, hes also on his 2nd round

of Augmentin for the 2nd time in April. This cf dr.we saw yesterday

seems great and has ordered 4 test to rule out some stuff, This is

where my questions come in- Test#1 is a UGI And Berium Esephagram and

Test#2 is CT of the chest which they say he'll have to be put under

for.Test#3 is tons of labs and #4 is a Flexible Broncscopy and

something washings I'm trying to copy the drs notes which also calls

for sedation. Ok so how bad is that for a baby to be put under and is

it dangerous? and do any of these test have side effects? I'm really

glad there doing them to see if theres somthing their missing

(finally) Ive been looking for awnsers since this first started last

Aug. The dr said to test for more than the 82 genes that it could

cost up to $50,000 so she wants to run these test before requesting

it to our ins.co. They also are doing a fecal fat test. So if any one

has went through these test can you let me know what to exspect?

Thanks Kari mom to Bre-4 nocf and J 11 mo. not sure yet but so

far a carrier w/ lots of breathing problems failure to thrive(not

even on the charts)and reocuring lung inf.

[Guest guest]

I'm not sure about all of the tests, but there are always risks with

any medical procedure. The risk of not knowing how to treat symptoms

is probably higher, though.

Do you mean $50,000 for a more thorough genetic test???? That

doesn't sound right. Ambry Genetics offers the test and it won't

cost anywhere near what the other tests are going to total. Ambry

tests for about 1000 mutations (over 99% of known cf mutations), so

they are pretty thorough. See their website for more information:

http://www.ambrygen.com . Are you sure that they didn't mean that

the tests they ordered would run around $50,000? My child hasn't had

these done (except for labs) so I'm not sure of the costs, but I do

know that a chest ct would be high dollar, as well as anything that

requires sedation of a child. I would be concerned if the doctor is

ordering tests according to what the insurance company is dictating.

There is the possibility that your child has one unidentified

mutation. Are they at least treating as if he has cf? Is he taking

enzymes yet? Maybe they will wait for the fecal fat test results

before prescribing enzymes? If your child is failure to thrive, the

enzymes may make a world of difference in his health, especially if

he seems to eat a lot for his size. The chest CT will show any lung

damage, the bronchoscopy will allow them to find out what microbes

are growing in his lungs and clear out any areas of the lungs plugged

with mucus, the blood labs will show deficiencies of certain vitamins

and check liver enzyme levels, among other things. The fecal fat test

will show if there is a high level of fat in the stool, indicating

malabsorption. These tests will help confirm a diagnosis of cf. The

tests are really an ordeal for a small child. Good luck with a

speedy diagnosis so that you can get on to the treatment and better

health for him!

~

This is

> where my questions come in- Test#1 is a UGI And Berium Esephagram

and

> Test#2 is CT of the chest which they say he'll have to be put under

> for.Test#3 is tons of labs and #4 is a Flexible Broncscopy and

> something washings I'm trying to copy the drs notes which also

calls

> for sedation. Ok so how bad is that for a baby to be put under and

is

> it dangerous? and do any of these test have side effects? I'm

really

> glad there doing them to see if theres somthing their missing

> (finally) Ive been looking for awnsers since this first started

last

> Aug. The dr said to test for more than the 82 genes that it could

> cost up to $50,000 so she wants to run these test before requesting

> it to our ins.co. They also are doing a fecal fat test. So if any

one

> has went through these test can you let me know what to exspect?

> Thanks Kari mom to Bre-4 nocf and J 11 mo. not sure yet but

so

> far a carrier w/ lots of breathing problems failure to thrive(not

> even on the charts)and reocuring lung inf.