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

[Guest guest]

Dear Liba,

It does sound a lot like CF to me, and even if its not you're welcome here.

I guess I'd recommend you do the ambry test but it has failed to find one of

my daughters mutations. she has pos sweat tests and all symptoms so it is

assumed she has CF. Let us know what happens,

love,

mom of age 19 wcf and Nick age 21 nocf

PS was diagnosed at age 8 mos due to dehydration, failure to thrive,

bronchitis and weird low electrolytes.

[Guest guest]

Your girls are very lovely. :-) Stay on the list with us, we don't mind at

all.

I too would encourage the ambry route. Proper diagnosis goes a long way toward

treating illness.

Dawn mom of 4, 7 and under, the youngest wcf

[Guest guest]

Hi Liba,

I, too, am a " new " member...also in limbo. My story is similar,

without the pancreatic involvement: My 8 year old daughter, Bethany,

began having " seasonal allergies " while in kindergarten. She

would wheeze, mildly, from Sept until the 1st freeze (usually around

Thanksgiving) and then briefly in the Spring. Albuterol inhalers

always helped...that is, until this year. She began mildly wheezing

this past September and NOTHING could touch it. In January, she

developed an ear infection that wouldn't respond to 3 courses of

antibiotics. Finally, to my insistance and relief, the pediatrician

referred Bethany to a pediatric pulmonologist. She was diagnosed

with asthma and was found to have many allergies (mold, dust, dogs,

cats, grass, etc...) They put her on a different treatment

regimen and we began allergy shots, once the wheezing finally

subsided. We were doing really well until mid May when her wheezing

came back in full force...despite medication changes and several

courses of antibiotics, she just wasn't improving. She was able to

cough up a teeny tiny sputum specimin for testing. Imagine my

surprise, when they called to inform me that pseudomonas was

cultured from her sputum! They put her on Cipro and arranged for a

sweat test the following week. The test result came back negative

(30). They also scheduled her for a bronchoscopy. We went to the

hospital, prepared for a routine outpatient procedure. The

pulmonologist, doing the bronch, admitted her to the hospital

immediately after the procedure. The reason...as he put it, is that

based on what he saw, in EVERY lobe of her lungs (sticky, tenacious,

thick secretions) he was sure he was in the lungs of a CF kid, with

a terrible PA infection. She was placed on IV antibiotics, Solu-

Medrol, major respiratory therapy (including the " vest " ), etc...

They repeated the sweat test, this time the results were 22. They

also did a blood work up, a culture on her bronch washings and other

tests. In a nutshell: the gram negative bacteria was not

pseudomonas, but some other that I never heard of nor can

pronounce. The blood came back as positive for 1 CF gene

mutation...the other inconclusive since the local lab only tests for

the 20 most common mutations. The pulmonologists, being very

suspicious ordered another round of blood tests. We are awaiting

results, sent out, to test up to 100 mutations. I currently

have her home, on nebulizer treatments (albuterol 4 x daily, with 2

of those including pulmicort, and gentamycin twice daily), Levaquin,

assorted allergy medication (singulair/allegra) and prednisone

(thank goodness we've begun the weaning process of that...nasty drug

that it is!)

I also have a 4 1/2 year old son, who was failure to thrive as an

infant and is still is quite underweight (34 lbs).

Anyway, despite not having a definitive diagnosis, I plan to

continue " lurking " among the postings of this group. Thanks for

allowing me to tell my story.

Polly (Former RRT, no longer in practice, except at home:D)

[Guest guest]

Your girls are beautiful! I have 2 boys, so I'm alsways a sucker for

pics of everyone else's little girls in fancy dresses!

I would go for all the testing that I could get. CF is different in

every child, and even thought the sweat test wasn't possitive (though

it was quite high) that doesn't mean that she doesn't have CF. It

doesn't sound like your day to day life would change much with that

diagnosis. My son is on enzymes, inhalers and vitamins. That's all,

other than twice daily physiotherapy.

Do you give your daughter vitamins with her enzymes? That is a must

for cf patients, otherwise, they don't digest them properly.

I hope you get answers soon. I found it much better knowing what was

wrong with my son, then I could deal with it. The not knowing makes

you feel so helpless.

Good luck.

Carla, mom to Shay 4 1/2, ncf, and Dallas, 2 1/2 wcf

> 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

[Guest guest]

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,too, think it is important that she bee given a genetic test

especially if she has breathing and pancreatic insufficiencies.

My son was not diagnosed until this year. His sweat tests were in

the indeterminate range (i.e. he was reading 58)He has had two

operations for nasal polyps this year. The first genetic test they

ran (from Genzyme) found only mutation. The second test was done by

Ambry and they found a second mutation. The second mutation is a rare

mutation and the only two documented cases. Both had sweat tests in

the range of 50-60 which is the indeterminate range.

Have your child checked again and make syre they are tested at a

certified CF center!!!! They have much more practice at

giving/running the sweat tests etc. at a CF center than from a local

hospital.

jan

[Guest guest]

You are welcome here with " whatever " . I do highly agree with the doc to

get all tests possible & leave no leaf unturned. the more you know , the

better you can care for those precious children...Your doing all the right

things-----don't stop now.

Take care & your in my thoughts to get thru all this

LOVE & HUGS,

New here, currently living in limbo land with my 5

year old. Intro & lots of ?s

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

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