Recent content by aphillips

The PA was great and was totally accepting about my concerns so we will be scheduling another sweat test soon. Unfortunately she detected a murmur and wants us to get that checked out first. I have a harmless murmur as well so I'm assuming its hereditary unless It could have something to do...

Is there a difference in R117H 7t and R117H 7t/9t?

Thank you for all the replies! We have an appt next week for his preschool physical but its with my Drs PA, who I've never met. And we just moved to this office and have only seen the DR the one time. So I'm really hoping I don't get them thinking I'm a crazy paranoid mother. Wish me luck! I...

I know it's a milder gene and I am incredibly thankful for that though it does make me sad that it has a high chance for my son to be infertile. I am most concerned with how important it is to do prevenative treatment and having a milder gene tends to delay diagnosis and treatment. Even the...

My son is 3 years old and has a single r117h 7t gene. at 3-4 wks we did the sweat test and it came back normal around 14. At the time I never thought he was salty tasting. we actually didnt even know he was a carrier until a year and a half later when we continued to have loose stools and I came...

My son is almost 3 and was found to have the mutant R117H 7t/9t in his newborn screen (kansas does the most common 40). We did a sweat test at 3-4wks old and it was negative. Since then we have struggled acid reflux as a baby and ongoing diarrhea. And frequently episodes of croup as well as him...