Wednesday, December 16, 2009

Tuberous Sclerosis - Neuro & Clinical Genetics Updates

We've been busy attending appointments in Neurology and Clinical Genetics these past few days. Both were follow ups for Bup...not embarking on anything new. Whew!
Clinical Genetics - reviewing all the tests conducted to determine if Favorite Husband, W, or myself have TSC. We do NOT!! The MRI's were all "pristine"! Abdominal Ultrasounds...W's clear, while FH and I each have a small, no-need-to-worry-or-act finding; "tiny" kidney cyst and probable teeny-tiny liver "tumor". Woods Lamp...W has two non-pigmented spots & one pigmented, B & me are clear. Lastly a Opthamology appointment is still pending, but is fully expected to have zero findings as well. And all that is considered...pristine! Which puts our Bup in the genetic mutation cause of TSC and gives us a %2 chance of having more children with TSC. Do we know if this is considered TSC1 or TSC2? No. That particular genetic test has not been not being funded (funding, funding, funding! Argh! Dr. Neuro shared that "they" are not funding anything right now....very frustrating on so many levels...but another post for the future...) right now due to financial cutbacks and is deemed unnecessary as the results will not change Bup's quality of life and he's not about to start having children anytime soon.
Which we will not be doing as our little family is capped! Capped I say. Although...who doesn't love a snugly baby and want one? Hmmmm...but then they turn into moving munchkins who tell you such things as "GoWay! No, Mommy, no follow me!"

Neurology - it had been over a year since Bup had seen Dr. Neuro...definately time. Dr. Neuro was thrilled with R's development & basic Neuro tests. Bup was a typical two yr old throughout the visit...trying to escape, to climb on the bed & use the ottoscope, cuddled in my arms snuggling with his "keekee" (blanket...which was actually my scarf as I forgot his little blanket at worked though, the scarf), crying & struggling through the exams. Gone is my content little patient. Long Gone!
Dr. Neuro increased Keppra because a couple of breakthrough seizures were seen recently. Ugh. I hate seizures. I hate increasing meds. The risk of side effects. With Keppra the concern is mood & behavior affect...which we will watch closely. A repeat of tests with Cardiology and Nephrology were ordered...just to make sure the tumors haven't grown. Even if they have, which I hope not, it's not a huge worry at this point because R isn't having any side effects in regards to his kidneys or heart.
Dr. Neuro still brought up surgery. How if one day it becomes a necessity that surgery really does wonders. I know he's just putting me at ease because this once was a strong consideration. I know from others that it's effective and life-saving...but I still hope we never have to go there and am grateful that right now we do not.
Having said all that, all is well with our little man....and what could be a better holiday gift than this?


  1. Hi thanks for your blog. My 2 yo daughter has TSC & when we increased her keppra we added B6 supplement for the mood issues. I really think it helps, although it's hard to tell sometimes what is keppra mood & what is typical 2yo mood. ;) best of luck.

  2. So many decisions and choices and trying to do what's best. So much to worry about.
    You and B are doing a wonderful job! Glad to hear it's more good news, overall, at least for now. The prognosis sounds encouraging!