francie12
Well-known member
Hi, everyone-- We just had a call from the Pediatric Genetics office to give some information prior to Matt's upcoming MRA on Aug 8th. They wanted to catch up with how he has been doing over the last year and request us to have echo results sent, etc.
Interestingly, one of the reasons for the call was to let us know that based on some new research findings in the last year, they will probably order a blood test for the TGF Beta Receptor Gene. The nurse explained that those that have (or don't have--sorry! didn't catch it) this gene are subject to dilated aortas and may share the condition with other members of the family--familial aortic aneurysm syndrome. She said that 20% of all dilated aortas are familial. If he tests positive, then we get the go ahead to screen family members--something, as some of you know, I've been concerned about. I asked again why we weren't screening anyway because of the BAV, and once again got a vague answer. I'm going to try to pin this down again when we see the big doc in person!
To make a long story short...have any of you researchers out there heard of the TGF Receptor Gene? Has it been related in any way to BAVD? Has anyone else had this test? (It's pretty expensive, but we are well over our deductible for this year!) When I searched on google I got over a million responses, none in the first few pages heart related!
Thanks for any input...all the best!
Jane (francie12) & Matt
Interestingly, one of the reasons for the call was to let us know that based on some new research findings in the last year, they will probably order a blood test for the TGF Beta Receptor Gene. The nurse explained that those that have (or don't have--sorry! didn't catch it) this gene are subject to dilated aortas and may share the condition with other members of the family--familial aortic aneurysm syndrome. She said that 20% of all dilated aortas are familial. If he tests positive, then we get the go ahead to screen family members--something, as some of you know, I've been concerned about. I asked again why we weren't screening anyway because of the BAV, and once again got a vague answer. I'm going to try to pin this down again when we see the big doc in person!
To make a long story short...have any of you researchers out there heard of the TGF Receptor Gene? Has it been related in any way to BAVD? Has anyone else had this test? (It's pretty expensive, but we are well over our deductible for this year!) When I searched on google I got over a million responses, none in the first few pages heart related!
Thanks for any input...all the best!
Jane (francie12) & Matt
