I could really use some help understanding

[Moriahdee]

Hi,

A week ago we were told at my son’s 1 month visit that he had 3 mutations, 3791delC, G576a, R668c. My husband likely carries the first one and I likely carry the other two. According to CFTR2, the first is disease causing and the other two are not but may present mild symptoms.

We had his sweat test yesterday and it came back at 38, borderline for a child under 6 months. His throat culture also came back for a mild bacteria.

Does anyone have insight with these types of combinations? His doctors say they can’t be sure if this will turn into CF but I’m confused because CFTR2 says they’re not disease causing.

Any help would be greatly appreciated. I’m terrified and looking for answers.

Thank you!

 

[Ratatosk]

I don't have any information on your son's mutations...I'm assuming what the doctor meant by "not turning into CF" was that they may not be symptomatic mutations. Is this doctor a CF doctor? If not, I would ask to be referred to an accredited CF Facility. Mutations can be tricky. Some people are told they won't have CF symptoms, yet do... Even with my child who has a common CF mutation started off with a sweat test of 32 and his symptoms were more digestive. He DID culture a couple CF bugs right away and had sinus issues, but he didn't have a cough.

 

[emason]

I would think it's because they have research that indicates neither of those genes disrupt the cftr channel individually enough to result in CF but they likely don't have any information on whether those 2 in combination with a disease causing mutation on the other allele cause disease.

 

[jomayberry]

Hi,

A week ago we were told at my son’s 1 month visit that he had 3 mutations, 3791delC, G576a, R668c. My husband likely carries the first one and I likely carry the other two. According to CFTR2, the first is disease causing and the other two are not but may present mild symptoms.

We had his sweat test yesterday and it came back at 38, borderline for a child under 6 months. His throat culture also came back for a mild bacteria.

Does anyone have insight with these types of combinations? His doctors say they can’t be sure if this will turn into CF but I’m confused because CFTR2 says they’re not disease causing.

Any help would be greatly appreciated. I’m terrified and looking for answers.

Thank you!

"Hi, my son has these exact mutations and he did develop atypical cystic fibrosis. I would say, keep and I on him. My son has lung and sinus involvement, for about 6 years, 7th grade through 12th grade he had become very sick. Now my son is relatively healthy with no hospital stays in the last 6 years. So likely your son will be ok.