New here, currently living in limbo land with my 5 year old. Intro & lots of ?s

[Guest guest]

My name is Liba and I am the mother of two wonderful girls. The older

one ZT turned five in May. She is pancreatic insufficient and takes

Creon. She was diagnosed as FTT as an infant, and had bronchiolitis

three times in her first year. She is on flovent and albuterol for

her asthma. My husband and I were premaritally tested for CF among

other genetic tests so I spent years insisting that my daughter

couldn't have it. I found out recently that we were only tested for 8

out of 1000+ mutations so she had a sweat test which came back

negative so we breathed a sigh of relief.

Last Friday we were at the pulmonologist for my younger daughter, who

has been having oxygen saturation problems, but the conversation kept

on turning to my older daughter who wasn't even there... He said it

had been mentioned that TF had a sister who was also failure to thrive

and asked why? When I said that " She was doing well now, she has been

on pancreatic enzymes since Feburary and has gone from 24 to 30lbs and

is doing well now. " his eyes opened. Then he asked about sweat tests

and I said that they had both had them, I didn't know what TF's number

was, just that it was negative but my older daughter's was 37 and his

eyes got even bigger. He said that though he has seen some kids with

numbers that high who don't have CF, usually negative test results are

around 10. Then he asked about asthma or breathing problems and when I

said that both my older daughter and I were asthmatics he asked how we

were treating my older daughter's asthma and I told him about the

flovent and abuterol he said " I know we are here to discuss Tziporah

not your other daughter, but what is her name? " Then he asked me if we

had had genetic mapping done for CF for Zlata... and I said no. He

said he still thinks there is a possibility that she has CF. I said

" So what, there is a 1% chance she has cystic fibrosis? " and he said

" No, more than 2% and probably closer to 10% " He gave us the name of

Ambrey Genetics and told us we should get the testing done even if it

wasn't covered by insurance. He said that it was important, and that

it would cost about $400. I am pretty sure insurance won't be an

issue, and even if it is, that isn't my worry right now.

I was given a 90% chance that my daughter doesn't have cf, but with

the breathing problems and the pancreatic insufficiency I feel like I

have a lot I can learn for you all none the less. I remember in

Feburary looking for a board for parent's of children with pancreatic

insufficiency and I couldn't find one. I am not sure how differently

we would be treating my daughter if we did get a diagnosis of CF.

Have any of you had a negative sweat test and then a CF diagnosis?

Does how high or low the level is matter if the number is negative?

Should we just go with Ambry or should we get another sweat test done?

We were told under 40 was negative, but if it were that clear cut

would we be getting all these raised eyebrows?

My daughter is also anemic, has been since infancy, zinc defficient

and has low sodium despite her high sodium intake. I am not sure that

any of these things have anything to do with CF. There is no family

history of CF that I know of on either side. There are a bunch of

relatives who died as young children and teenagers in my father's

generation but I was under a strong impression that that was related

to ulcerative colitis which I knows runs in the family.

I hope you don't mind me being here, since I am not sure we belong. I

am sure that even if we don't end up with a CF diagnosis that I will

learn a lot about pancreatic insufficiency and enzymes. I don't know

any other parents who deal with enzymes and have to figure out how to

deal with making sure they allow her to take them,and that she

remembers, if she goes to school in the fall. I appreaciate your

support!!

Liba

PS If you want to " see " my girls you can check out my website, it is a

very ammature first attempt... http://webpages.charter.net/liba