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Clom801
11-21-2017, 07:03 PM
Hello, just found out that one of my 34 week born twins showsw1089x with Variant TG12-5T/TG11-7T. We have 4 other boys that have had the same screening with no results as carriers. My question is, did this sound normal? And if so, does this mean he has cf? Or just a carrier? Kinda confused. Getting tested next week but weird that none of my other kids showed as carriers. Your help is very much appreciated.

Printer
11-24-2017, 03:23 PM
If both you and your husband are carriers, there is only a 25% chance that a child that you produce will have CF. Yes this is normal. For a person to have CF, he/she would need to have 2 mutations, the twins seem to show only one. That being said, there are almost 2000 known mutations and I suspect that your twins were screened for only 250. I am the oldest of 4 siblings and the only one with CF.

Clom801
11-24-2017, 04:38 PM
If both you and your husband are carriers, there is only a 25% chance that a child that you produce will have CF. Yes this is normal. For a person to have CF, he/she would need to have 2 mutations, the twins seem to show only one. That being said, there are almost 2000 known mutations and I suspect that your twins were screened for only 250. I am the oldest of 4 siblings and the only one with CF.

Thanks for the reply. What is the difference between a Variant and a mutation? I thought that it was pretty cut and dry, either a person had two mutations which would result in CF or one mutation and he or she would only be a carrier. The Variant kinda threw me off. It's it just a minor side effect of CF? Or just certain symptoms but not the full blown CF? Thanks in advance

Printer
11-25-2017, 04:26 PM
First, If your twins are not being seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST, you need to start there. Some, only a few, variants mimic CF. Tell me the name of the largest city near you and I will find the Approved CF Clinic.

Clom801
11-26-2017, 03:05 AM
First, If your twins are not being seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST, you need to start there. Some, only a few, variants mimic CF. Tell me the name of the largest city near you and I will find the Approved CF Clinic.

He was tested here in California at a kaiser permanente hospital and we are doing the sweat test at L. A. Kaiser Permanente Cystic fibrosis center here 1526 N. Edgemont Street, Los Angeles, CA 90027. *

emason
11-26-2017, 06:23 PM
5t can be disease causing when paired with a CF causing mutation. It's a complicated one. Have you looked at CFTR2.org? You'll see that the 5t variant is influenced by the TG - in your case that appears to be 12TG. There are a lot of articles about this variant out there as well at 5t is carried by many people. This article references a study done out of CHLA following children with 5t and says that based on those they followed only 6% went on to develop the disease.

https://www.eurekalert.org/pub_releases/2016-07/chla-dsu072516.php

Most of the time you will read that 2 mutations means CF but in some rare situations there are mutations or variants which are influenced by other things (maybe other genetics or environment or combination of) and for whatever reason only result in disease some of the time. I wish I could help you with some definitives here but really the best thing to do is just to have your child monitored through the clinic and hope for the best!

Clom801
11-26-2017, 06:26 PM
5t can be disease causing when paired with a CF causing mutation. It's a complicated one. Have you looked at CFTR2.org? You'll see that the 5t variant is influenced by the TG - in your case that appears to be 12TG. There are a lot of articles about this variant out there as well at 5t is carried by many people. This article references a study done out of CHLA following children with 5t and says that based on those they followed only 6% went on to develop the disease.

https://www.eurekalert.org/pub_releases/2016-07/chla-dsu072516.php

Most of the time you will read that 2 mutations means CF but in some rare situations there are mutations or variants which are influenced by other things (maybe other genetics or environment or combination of) and for whatever reason only result in disease some of the time. I wish I could help you with some definitives here but really the best thing to do is just to have your child monitored through the clinic and hope for the best!


Thank you so much. Really appreciate your help.

Jakeocker
09-03-2021, 06:17 AM
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