Waiting for DNA test results

[Guest guest]

Hi,

I am a mother of 4 children 11, 10, 3 and 6 months-- we

believe the baby has cf. We are waiting on the DNA test

as he had 2 " normal " sweat tests. I had to fight with

the doctors to get the test. I was told he does not have

cf because the sweat test was not positive or

even " borderline. " That was when I began to educate myself

about cf and went back to my pediatricians office with

statistics. Then I was told even though there is a small

chance he could have it he probably doesn't because he has

not had alot of lung infections. I had to inform the

doctor that not everyone is constantly ill with respiratory

problems. My son has been hospitalized 5 times since he

was 2 months old (3 times with IV because of dehydration)

3 times he has needed oxygen for several days (his sat

has been around 89-90) He has the most terrible poop--

when he was 2 weeks old I thought it was my 3 year old

with an " accident " in her pants, but it was him that

smelled like that. I was shocked and mentioned it to the

dr. they just said it was " odd " and soon after that the

respiratory problems began. He coughed and choked and quit

breathing-- he turned blue. He has strings of mucous--

there have been several large " plugs " that when they come

out are followed by what appears to be water? We now have

an apnea monitor and have had so many tests. He has a

heart murmur and pulmonary stenosis that seems to be mild,

but worsens when he has " bad days " He has had so many

tests-- they thought he possibly had reflux and even

treated him with zantac and reglan, but after the symptoms

did not lessen we did the pH probe and he does not have

reflux. He does nebulizers, but for now I am doing just

saline because the albuterol causes tachycardia (fast

heartrate) and his monitor would alarm (the alarm only

sounds when his heart is beating over 200 beats per

minute.) We have tried many different formulas-- he improved

somewhat and began to slowly gain weight after starting

Nutramigen, but he drinks about 60 ounces a day because he

does not seem to digest it. We are starting Neocate today.

I hope this works to help him-- the price on this is

unreal. I picked up my one months supply at the pharmacy

yesterday and it was $700. My insurance is covering it,

but it was a hassle to get them to agree to. When the

sweat test was negative the dr. decided to do an alpha-1

trypsin test instead of the cf-- I'm not sure why?

Everyone seems to have this false idea that the sweat test

is THE test-- don't they realize that if the sweat test

always was accurate there would be no need for other

testing options? I even have a family history of cf-- well

sorta-- my cousin was born in '79 and had problems like

my son. His mother was told he would outgrow " it " as I

have been told-- he didn't. He had every symptom of cf

and not mild either. He began heart failure at 1.5, was

placed on oxygen full time and still had negative sweat

tests-- specialist from around the world looked at Tim-

they treated him as he had cf. He has since passed away

at age 17 (he never had a positive sweat test and he did

not have a DNA test-- by the time they could do the test

there was no point-- he was dying and nothing could change

that) I wish now that he had had the test-- my doctors

keep asking me why he didn't if they were not sure what

he had. They are also wondering why he did not have an

autopsy-- his mother did not want them to do one-- knowing

after the fact would not change anything. So now I am

just waiting and driving myself insane reading every article

and medical journal I can about cf-- If I didn't I would

still be waiting for someone to finally decide we need the

DNA test. Education is essential-- I have realized that I

am my child's advocate-- I have to demand answers because

there is no one else to speak for him. I was asked why

I was in such a hurry to do this test-- wouldn't I like

to wait and see if he improves? I could not believe it--

if he has cf we need to begin treatments and prepare

ourselves not wait until he is 3 and having worse

problems. The test is expensive but the hospitalizations and

er visits and tests so far have been close to $20,000.

The longest hospital stay (ten days) was over $8000

including the pH probe and other tests. What is $300??

Michell W