I am not super happy today in writing this post. We just got back from Boston today as Maddie had her apt with Dr. Sahin (The Tuberous Sclerosis neuro.) I thought this was a wrap of the great news about the genetic testing and how we wouldn't really have to worry about TSC and just move forward. Apparently not.
He said the genetic test can detect 85% of TSC cases and he wants Maddie to have MORE tests...She will need a heart test and a kidney ultrasound. I know these are not invasive tests but I just want the TESTS to be over! I thought this was a thing of the past...except waiting for the MRI at 2. Maddie IS going to have an eye exam under anesthesia on March 10 and he wants the pediatric opto to look for signs of TSC in her eyes as well.
Totally bummer news. Not what I was expecting at all. I went with my friend Stacia so Rob could stay with Paige and we tried to make it as fun as possible. This is our plan now because it really makes it easier on Paige. Maddie did great and did not freak out much at all. Boston Children's always has the best food and Maddie loves all the fun things they have there. She loves it now that she can walk around and point to all the fun pictures and fish. They really have an interesting lobby.
On top of all this Maddie just started to get pink eye! Worst timing with her eye issues already. Hopefully the antibiotics kick in soon!
So there it is...not horrible news but bummer news. It felt great for a few days to forget about the possibility of this being TSC. I am still very hopeful and optomistic that it is not. I never thought it was...but want the for sure to get this behind us. I will post some pics soon too. Below is the pic of Maddie's eye dots that we have been talking about.
What symptoms does she actually have of TSC?
ReplyDeleteNot a ton so that is why I am so lost on so much push for the testing. She has cortical dysplasia in her brain that resembles a Tuber and heterotopias that are migrational lines...both found in TS...She has 1 very tiny white mascule or what ever that thing is called on her knee. She has a few behaviors that under the spectrum unbrella...and she has weird eye stuff that he said would be odd but not unheard of in TSC. Also CD is usually found in the front area of the brain and hers in located in the center...not sure if that matters but one of the docs mentioned location.
ReplyDeleteThe thing is, it is Dr. Sahin who wants the testing...and he is the big head honcho neuro at the TSC clinic... and so apart of me thinks I need to agree with him on the testing and apart of me just wants to go with my gut and not do it until she is 2 and goes for her MRI and is sedated anyway. I am really at a loss on what to do. Asked the ped for advise.