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
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