Should I request a sweat test?

Melbell

New member
Hello! My name is Melanie and I have a one year old boy. Please forgive me if I am incorrect with any phrasing or info, I’m still learning about CF and this is all new to me!
When my son was a newborn, his blood screen came back with an IRT of 67. We re-screened a week later and it was the same but there were no mutations found in the genes. They said due to the lack of mutation it as very unlikely he has CF and that we should simply watch for symptoms.

It’s a year later and he hasn’t had any outstanding symptoms. However I just learned yesterday that it can take some time for symptoms to manifest, which I didn’t know. His weight has slowed and he did have RSV/bronchiolitis. I guess I just feel like it shouldn’t have been brushed off as it was, and a sweat test should’ve been done seeing as it’s non-intrusive and relatively affordable.

That being said, should I request a sweat test? Has anyone else had this? I feel like 67 is too high to brush off, even though no mutations were found? I’m just not sure what to do! Thank you ❤️
 
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Ratatosk

Administrator
Staff member
Did they actually test for genes after they rescreened, and if so, how many mutations did they test for? When DS was tested, I believe they only tested for a handful of the most common mutations -- there are over 1500 CF mutations. Being that your child is having issues and you're concerned, I guess I would contact the clinic and ask for additional testing for piece of mind.
 

Melbell

New member
Did they actually test for genes after they rescreened, and if so, how many mutations did they test for? When DS was tested, I believe they only tested for a handful of the most common mutations -- there are over 1500 CF mutations. Being that your child is having issues and you're concerned, I guess I would contact the clinic and ask for additional testing for piece of mind.


They only tested for two genes during the re-screen. They haven't tested for any more since then. I had no idea there were that many mutations, thank you for sharing.
 

Printer

Active member
Newborn screening in most states is for ONLY 32 mutations. There are almost 2000 mutations (all on the same gene). You need an appointment at an APPOVED CYSTIC FIBROSIS CLINIC with a CF SPECIALIST.
 
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