CRMS diagnosis in child

[monkeydove]

Does anyone have a CRMS diagnosis? My son is 6 and has two mutations polymorphisms M470V and possibly a CF causing mutaion.

 

[Indianamom]

My daughter does. She has 2 mutations but a negative sweat test.

 

[emason]

My son is also DX CRMS. He has df508 and a mutation of varying consequence - negative sweat at 6 months. He gets another sweat test next month.

 

[DocDub]

I have crms. 33 yo male with dF508 and R117H.

I had sinus polyps that were bad in high school. I have CBAVD (infertility) and I have newly developed acute relapsing pancreatitiis. That last one has been a bit of a doozy.

 

[emason]

Out of curiosity, how/what age were you diagnosed? (If you don't mind sharing?)

 

[DocDub]

I was 22 when I got my chromosome analysis. My sister was diagnosed at 16 and that prompted all of us to get tested. Apart from sinus polyps, I had been symptom free.

 

[emason]

I always get curious when I see an older CRMSer. My son will be 1 next week and I can't tell if any of his issues are related or not yet (second mutation is not r117h though - it's g1069r). I'm always interested to see when symptoms presented in others.

 

[slk317]

know this is an older thread, but my son has CRMS and I'm not able to find much online about it. Looking for others with CRMS, or who have children with it. He was just diagnosed with it last February, and other than his asthma acting up a little over the summer, he's been for the most part symptom free. But he's had diarrhea twice since Thanksgiving, a week each time, and don't know what to do. I've also talked to two of his doctors about it, and they don't know what to do. Thinking he needs to see a GI doctor. He was told last year he was pancreatic sufficient, which surprised me, because based on the little I knew, I expected him to not be. Could the test have been wrong? The poor kid (he's 15) is tired of laying in bed all day and running to the bathroom all hours of the night. Any suggestions?