Health knowledge made personal
Join this community!
› Share page:
Go
Search posts:

Tuberous Sclerosis - The Mutant Gene

Posted Oct 30 2009 11:02pm
It's been a long time coming, approximately 14 months, and we finally have results from genetic testing for TSC.
It appears that R's Tuberous Sclerosis is the result of a gene mutation. Not genetic!
As I've said before, it doesn't matter to B & me, how Bup developed TSC. I didn't want there to be any guilt on either of our parts...and there would have been as that's just the way our hearts work....if it had been handed down by either parent. The only reasons we wanted the genetic testing was for the boys futures and for family members who haven't had their own babies yet. There's a little relief in knowing that new babies born into this family will not have TSC!

As I write this our little Bup is napping on the loveseat in front of me. A quick, cat nap before we are scheduled to pick his brother up at pre-school. I watch him sleep, those long thick lashes against his fluffy cheeks and admire how perfect he looks; how bizarre it is that there are
"mutant genes" in his make-up, tubers/tumors growing on his organs, and weird electrical activity spiking throughout his brain. Our sweet, little, perfect Bup...happily living seizure free thanks to meds....while watching him sleep I know the TSC is invisible and I'm grateful for that. Hopefully, it'll keep sleeping too....long, long after Bup has woken up.
Post a comment
Write a comment:

Related Searches