I am so tired so this is going to be brief but I needed to get exciting news out. Today we got a call from the geneticist in Boston...She had both of our test results and Rob carries the variant on the TSC1 gene. It is NOT causing Tuberous Sclerosis!!!!!! It IS the genetic link to her having Cortical Dysplasia which we already knew she had. This is such great news! We needed it as Maddie has had a terrible week thus far with headaches and bad eyes. Her pediatrician is going to start Maddie on a bit of a cocktail...no not really, but a combo of Magnesium and something else to try and prevent these migraines. He is actually thinking that her photophobia may be caused from having a migraine problem. Migraines are common in cortical dysplasia....Maddie is just pretty young for migraines but we will see. I am glad we are trying something other than nothing.
There is a lot more going on and I will blog more about it soon...Maddie has been a nightmare with her loopiness, headaches and crying so I am pooped. I am just extremely excited about this news!!! We can move forward and put that behind us all!
No comments:
Post a Comment