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Thread: Is it ok

  1. #1
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    Is it ok

    Hello, Im looking for some answers or advice here. Im from Slovakian, tiny country in the midle of Europe. We have a son, that is almost 3 months old now. His newborn screening came back positive, first his IRT level was 98, on the 14th day it was 68. As I understood, the limit for the first one is 70 and for the second 60. We had to have a sweat test. The first one was at the age 3 weeks. It came back with the result 29. However Im not so sure about the result, as our little one didnt sweat very múch, so instead of 30 minutes they collected hus sweat for 60 minutes. His result at 4 weeks was 24, this time there was enough sweat after 30 minutes. They said its all . We have to wait for the numbers of the elastase in his stool. As his stool is not formed, cos he is exclisively breastfeeded it might take Few more weeks.
    Our son looks normal. He cough only when he is eating very fast. His stool is yellow and he goes like once a day, sometimes one in 2 or 3 days. Sometimes I can find a little bit of moucus in his nappy. Especialy in case hr didnt pop for 2 or 3 days. Although he is throwing up a lot he puts weight normaly, or actually abnormaly fast he doesnt taste salty (sometimes I can feel a Bit salty taste there, but its in the moments when Im panicking and licking him all the way round. Its not really salty though, I have to concentrate on that.). I even try to find out IF his fingers change in the water in 3 minutes. Sometimes it feels they do, but nothing dramatic, sometimes I dont see any change.
    As long as he had his test negative, they wont do any other testing. They said we should come in like 6 months for another sweat test just to be sure.
    Can I be comfortable now with his result? Cos Im still thinking what IF. ...
    The insurance wont pay for his gene test, as he scored negative in the sweat test. I was thinking about paying for the test for 50 most common mutations, but Im not sure if that will put my mind on rest. If they find some mutation I will think what IF je has anotherone in these 1800 Who werent tested I cant afford to pay for
    the whole panel testing. On the other Side Im so affraid we might miss something.
    What do you think about his results? Do you think he has it? Except his throwing up after and between eatings, he ooks very fine. His stomach doesnt Hurt so we are blessed.a lot. Thank you for your answers. I with these web dont have to exist
    Katka

  2. #2
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    Katka, please relax and don't get over stressed. Sounds like he doesn't have cf. I would wait until he was a bit older and maybe have him retested. Our son who is now 32 was very very salty, when he slept, he would sweat alot, so much so that his bedding would have the white salt rings where his head laid. His stool was very spongy looking and loose. Being your little guy is so young and with the breastfeeding maybe waiting a bit is the best choice. I wish you the best. Cindy in Ohio USA

  3. #3
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    My son was born with a bowel obstruction due to meconium illeus. He spent 6 weeks in hospital where a doctor suspected cf and sent in blood for a basic panel. There wasn't newborn screening at the time. No family history. His sweat test at 3 weeks was 37 and he wasn't very salty. Later on he was very salty, when we'd kiss his forehead my lips would taste of salt. Apparently teeny tiny babies don't sweat much. His symptoms were primarily digestive and sinus. He was put on digestive enzymes.

    i guess I'd keep an eye on his saltiness, his weight....you mentioned fecal fat test.... If he does end up being pancreatic insufficient, that might be reason enough to conduct genetic testing, as well as repeat the sweat test.
    Parent to a child wcf double delta f508

  4. #4
    Kaethe108
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    Dear Katka,
    Greetings from Slovakia, Trencin. :-)
    My husband is Slovak and we live in Germany (I am german) but right now we are visiting family...
    Our daughter (6 years old) has CF and from everything you write I would also say you should not worry anymore. Although I know this is very easy said and very difficult to do.
    But your son is thriving very well and shows no signs of CF. His tests came back normal and the doctors assured you that he is healthy.
    When our daughter was born she did not gain any weight. After three weeks she tasted very very salty and she had stools up until 12 times a day (!) which smelled like hell... she was very pale and had stomach pain all the time.
    So you see your son sounds very healthy compared to that!
    As long as he is thriving as he does, I would wait until he is maybe 1 year old and then for your peace of mind redo the sweat test, which I am sure of will come back normal.

    It was a shock when the screening results of your son came back positive. But there are several reasons other than CF why IRT levels can be high (premature baby, stressful delivery, baby might be CF carrier and other reasons...).
    (You might want to read:
    https://www.cff.org/What-is-CF/Testi...eening-for-CF/)

    I don't know how the newborn screening is done in Slovakia, but in Germany they always also check PAP numbers.
    So let me quickly summarize a study that was done in Germany:
    They checked more than 300.000 newborns. 3305 of them had high IRT levels. From these babies 566 also had high PAP level. And from these only 60 babies actually have CF!
    So you see that only high IRT numbers just give a hint that the baby should get checked but it is still very unlikely that the baby really has CF!
    I hope these numbers helped a bit to ease your mind.
    Maybe you can ask the doctors that did the sweat test for the appropriate numbers in Slovakia!

    I am sure you just need some time to get over that shock!
    All the best,
    Kaethe ;-)

  5. #5
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    Thank you so much for your replies. Im. Very grateful for your opinions and kind words. I think that was what I needed. I just noticed how many mistakes I did in my previous post. But it was like 3 or 4 oclock in the morning and I was breastfeeding. I wont lie, you make me think a little bit more positive. Im still very, very scared as I read here about many people having a negative sweat test but still having CF.
    Our son looks like a perfect child, there is nothing different to his sister when she was a baby.
    In Slovakia they dont look for mutation in the newborn screening. They just measure the IRT Level. If that is high, they take another sample on 14th-25th day of life. If Thats positive again, you get a reference to the CF Centre for a sweat test.
    As I understood in case the IRT levels are extremely high, they usually call you immediatelly to the cf centre and they do the gene screening.
    The second sample from our son was taken on 14th day and was not very much above the limit. I believe, if they took it Few days later, it might come back negative.
    You know, Im scared that we miss something. If our little one is not ok, that every day without a good care and treatment will show in the future. I really hope, everything is just fine with him, but this diagnosis is always somewhere at the back of my mind..
    Kaethy, the world is so small, its funny to meet some one more or less from Slovakia here. I used to study german at high school. It was my first language and we even study some subjects in german.

  6. #6
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    Please, May I have a one more question? Did your kids as a babies, or Maybe even now, have very sticky boogies? When I clean my sons nose, its so sticky like a glue. When is on my fingers I can hardly divide them. I know its gross, but I would better ask
    Thank you again for you replies

  7. #7
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    Yes, yes and yes! When our son was a baby I was forever listening to him sleep at night because his nose would get so stuffed up. We used saline spray/drops and would use a nose syringe to suck out the extra thick boogies. In fact, you know how some kids always seem to have a runny nose? His nose never ever ran. The first time I ever saw his nose run was at age 2 1/2 years when the doctors put him on dnase/pulmozyme which we nebulized using a mask. I was amazed as I had never ever seen his nose run. When he was 4 years old, his nose was so stuffed up and he was so miserable breathing from his mouth that I tried a nasal irrigation kid that I'd bought for myself when I had a sinus infection and never used. Basically a squeeze bottle you fill up with warm water an add a salt packet. The stuff that came out of that child's nose was HUGE and disgusting! But he felt oh so much better. Your child is way to young for that; however, if you aren't already doing so, I would suggest using some saline spray and cleaning out his nose that way. another thing I did when he had a cold was to steam up the bathroom by running the shower, then filling up the bathtub and letting him play in the tub for awhile. The steam from the bath would help loosen things up.
    Parent to a child wcf double delta f508

  8. #8
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    Our little one doesnt have a full stuffed nose. I just noticed a boogies, Maybe one in a day in his nose. Its not big, I can clean it easily, but its so so sticky. I use the saline spray on the cotton bud and take it out.
    Its so silly that I live in this limbo. Im so scared he might not be ok. That I miss the signs or postpone the treatment, because I havent see thE red flags. I know that the genetic testing is pricey, but I really dont understand Why not to do that for a small child. I even wrote an email to ambree if they can test some body Who lives abroad and what is the cost of the test, but nobody came back to me

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