Kay's MRI Results/Javi's EEG schedule

I am happy to report that the results were NORMAL!  Yay!  

Next stop, Javi's EEG on March 12th.  He will have to be sleep deprived.  I think Mark and I will have to take shifts.  His schedule is go to bed at midnight and wake up at 4AM.  He has to stay awake from 4AM to noon when his EEG is scheduled.  Thank goodness he doesn't have to be food deprived.  That would be a really big problem.  Think we will go have breakfast at IHOP or some thing to keep us busy that early in the AM.

MRI on Friday

We are bound for Children's Hospital early tomorrow morning for Kay's MRI.  We hope everything goes off with out a hitch.  It's always a little nerve racking to have a little one under anesthesia.  We are hoping to be in and out in a few hours.  Of course, we won't know the results right away, but we aren't anticipating anything.  It's really just to follow up with the TSC, check for tubers and also to see how the seizures affected her brain.  We know she had some slowing in the occipital lobe that was most likely from the IS, but it doesn't seem to be slowing Kaylee down, that's for sure!!

Wish us luck and hope for a quick discharge :)

Dr. Genes Visit

Before we said our good bye's to Grandma Audrey, we went to our appointment with Dr. Genes. It was a very long wait because their computer system was down. They had said they would call us when it was our turn (they usually hand out pagers, it's such a large waiting room), but apparently the pagers don't work with the computer system down.

We waited...and waited and waited some more. Finally, a woman approached us and asked if I was Kaylee's mom. I don't know how she knew it was us, since the waiting room had about 50-60 people in it. It was the doctor's assistant, whom we had never met, since it was the first time we had seen Dr. Genes. I guess they had tried calling our house and didn't get an answer. With all the chaos in the waiting room, I guess she just decided to do a sweep to see if there was anyone that looked like a Kaylee in the room that was her age :) They said they had also tried calling us 3x's in the waiting room, but we never heard our name. We were only sitting about 10 feet from the reception desk, so you think we would have heard.

After about an hour and twenty minute wait we were finally taken back to an exam room.

Next, we had a young doc come and talk to us. She was the resident for Dr. Genes. She was a very sweet woman who was very smitten with Kaylee, especially since Kaylee was all dressed up in her fancy outfit complete with her red beret. She gave Ethan a Halloween treat while we discussed our background. We went through the usual questions about pregnancy, birth, family history, etc. Then Dr. Genes came in to examine Kaylee. He practically went over her with a magnifying glass. He was so thorough. He then did a Wood's Lamp test with the help of Dr. Resident who had to go borrow the Wood's Lamp from the ED. Just as we thought, the exam revealed no shagreen patches or hypo-pigmentation.

Dr. Genes wants the entire family to get tested. He said that since her mutation is one that they have never seen before, they will want to do a comparative study with our genes.

So, now the long process of getting it approved through insurance...

We're home!

It appears the new dosage worked very well. We tried to force an event with drug deprivation, but nothing of any real significance occurred. There were a couple blips here and there, but nothing like she was having for the last few days. Isn't that Murphy's Law?! This is a time when we really like Murphy! We are hopeful that the Topamax will continue to work. Dr. Neuro raised her dose one more time, just to make sure and said he wants to see us back in December. At that time, we are going to schedule a repeat MRI just to make sure there aren't any tubers putting pressure on the right cortex where he found some slowing in her brain waves.

Her focus appears to be just in the left frontal lobe, so that was excellent new to hear that it is isolated to one area of the brain. He is still suspicious of TSC, but is anxious to find out what Dr. Genes will say at the end of the month. He wants my sister and I to get tested.

I am completely exhausted. I still plan on going to the RDI conference tomorrow morning. We have respite care coming in for eight hours a day to help Mark out. I'll only be away overnight. Well, I'd better get some rest and get to packing for my next trip! Thanks everyone for all your well wishes, prayers and phone calls. I know I haven't been able to get back to everyone, but I promise I will when I get home from my trip.

Update, Dr. Neuro

We talked with Dr. Neuro about Kaylee's seizures, he gave us a few
different treatment options.

1. Increase her Topamax to the max dose slowly and see if it curbs the seizures and spasms.

2. See the dietician to begin the Ketogenic Diet.

3. Vigabatrin

Dr. Neuro said he doesn't need to do a repeat vEEG to confirm. He said if it looks like spasms, it's spasms. He said he didn't want to waste time testing, he wanted to move straight to treatment. Given that her other seizures had kicked up in frequency as well, he felt that we
needed to move quickly. He said he was confident that I knew what to look for.  Also, it doesn't really change the course of treatment, since we are not going to use ACTH again.  She didn't do well on ACTH and it didn't work well on her either.

It wasn't the answer I was hoping for at all. I wanted him to stand up and say, no, you are probably wrong, there is nothing to worry about. Our Dr. Neuro puts a lot of stock in a mother's intuition. He thinks that more doctor's need to listen to that instinct.

We have not made any firm decisions on treatment yet, but we are leaning toward diet and Topamax. For the time being, the increased dose of Topamax has kept the seizures at bay. She has been very wakeful at night, so we are not yet certain if that is from seizures or from increased meds. The doctor said we need more time to see which one it is.

It's very disappointing.  We really thought we had the IS beat.  We were pretty knew we may never be free of the Complex Partial's, since she had occasional seizures with TSC.  I guess we just feel blessed that we were free of the IS since the end of April 08.  One year ago almost to the day is when the IS began and we have come a long way since that bumpy road.  October is our favorite month, but these last couple haven't been so great.  We are hoping we won't be celebrating another one of Mark's birthdays at Children's Hospital.  As nice is the hospital is, it's not a good place to party :)  Kaylee has plans to dress as the "littlest angel" for Halloween, so we are hoping to be able to do the typical dressing up and trick or treating this year.  It will be her first, since she was on ACTH and in misery last year.  She had swelled up so much, we couldn't zip up her costume.

Calling on all prayers to see us through this rough time.  Hoping for a speedy cessation of the spasms and are next course of treatment will work with minimal side effects.

Drug reverses mental retardation caused by genetic disorder

I happened to be browsing about TSC and found this article...

There could be help on the horizon for my kids if they are in fact afflicted by TSC.

Drug reverses mental retardation caused by genetic disorder
Medicine & Health / Medications
UCLA mouse study offers hope for correcting how autism disrupts brain
UCLA researchers discovered that an FDA-approved drug reverses the brain dysfunction inflicted by a genetic disease called tuberous sclerosis complex (TSC). Because half of TSC patients also suffer from autism, the findings offer new hope for addressing learning disorders due to autism. Nature Medicine publishes the findings in its online June 22 edition. more...