- One company, Athena, holds the patent in the US for TSC genetic testing so other labs are not allowed to do it without facing a lawsuit. Without competition they can, unfortunately, take as long as they want to give results, hence our long wait...
- There are 2 mutations that are related to TSC. They have numbers 1 and 2. TSC2 tends to be more severe than TSC1. With this test there is a 70-80% rate of finding the mutation so, it is possible for them to "miss" the mutation. Apparently, looking for this mutation, is similar to going to a library and looking through all the books for one word. That makes me respect the good Lord and how amazing human DNA truly is! Guess it makes sense this test would take some time.
- We found out today that Athena has done 1/2 of Oliver's testing. They started with TSC2 and they did not find that mutation. So the good news is that he probably has the less severe mutation, TSC1.
- We have to wait as they look for the TSC1 mutation and for Polycystic Kidney Disease.Polycystic Kidney Disease only affects less than 2% of those with TSC but, when it does it makes things much more complicated. The good news is the statistics are on our side with this one :)
- So please pray that they will find the TSC1 mutation. We know Oliver has TSC so, the reason we want them to find it is so we can have more info. If they don't have find the specific mutation, we'll have less details to work with. It will help us make decisions in regards to having more biological children and most importantly, possibly open doors for future treatments for Oliver. Also, if they find the specific mutation, it allows for other family members to be tested, if they choose.
So..we're praying that a miracle would happen and Athena would get all this done by next Tuesday, when we go to Boston. We'll see...the wait continues.
1 comment:
Good luck! Hopefully testing will show the TSC1.
My husband and I call TSC the "Maybe Disease" cause until things develop you never really know what the outcome will be. It keeps you guessing...and waiting. Which we don't do. Just count our blessings as they are and not borrow trouble. Always easier said than done. Especially in the early stages.
We too went through a lot of genetic testing to see if our older son is affected or either of us so that other family members will know what their odds are when it comes to their children.
I wish you and your little family the best of luck. May you get the answers you're hoping for.
Post a Comment