Thursday, February 11, 2010

Still no answers

My internet has been down for a few days so I have been unable to update on Emily.

We left the hospital on Tuesday still with no answers. The results of her 23h VEEG (video EEG) said that she did not have one single seizure while she was on it. We saw her have 16 episodes that looked like infantile spasms. Her legs kick up and as she lets out a small grunt while she does a little crunch. One of the reasons he believes she is not having seizures while she does this is her behavior while she is doing it. She smiles, laughs, kicks, makes eye contact, nurses and babbles.

Before she did ACTH injections her seizures were much different. She would kick her legs up but she would also flail her arms out and turn her head to the side and occasionally cry out or moan with each one. When it was over she would scream, cry, and then go to sleep. Which all are very typically responses to having a seizures.

She no longer cries or goes to sleep after her episodes.

The neuro just kept saying "Emily is a mystery". I asked him flat out is this a good thing and all he could say is her EEG is very abnormal. Every 5-10 seconds she has a firing on her eeg for a potential seizure. Due to those results we changed her meds around completely.

The change in meds have seem to have helped. We went from 15-20 seizure-like episodes in the hospital to so far at home 4-9.

We want to be happy but its just so hard to because I have heard of some seizures that don't show on eegs. We have another appt with our neuro on Tuesday and I have a lot of questions for him. We also have an appt with a ped. opthamologist to see if we can begin vigabitrin (sabril). There is a potential side effect of peripheral blindness with this medicine, so she will have to have to be followed closely by the eye dr to try and prevent that.

How do they do vision exams on babies? That seems very hard to do.

We also started Emily on melatonin at night. She is having a hard time sleeping at night and that makes for a grumpy mommy and baby. It seems to help a tiny bit. I will take a tiny bit though.

Emily has been so much happier the past couple days. We are even getting a few chuckles out of her every now and then. She smiles ALL the time now. If you knew Emily before all of this you know she never smiled. I never get tired of seeing those smiles!!


  1. Hey- To do an eye exam on a baby they have to pretty much see how her eyes react to certain stimuli. (Distance, light....) They'll probably dialate her eyes to look inside since she can't tell them what she can/can't see. I know a great eye dr. that works with kids in New Salisbury....

  2. thanks for the info but only certain eye drs can do this exam for this med to be given. Our neuro said only one dr in l-ville can do them. I wish someone closer could do it

  3. She has a beautiful smile too! Glad you all are seeing it more often! I know it makes your heart smile!

    (I'm so going to miss you this weekend!!!! It wont be the same...)

  4. Hello, My name is Leita and I am mum to a beautiful girl who has been diagnosed with CDKL5. She also had IS as a baby. CDKL5 is a newly discovered genetic condition and not widely tested for. I hope you don't mind me dropping in on your blog but I have my google alert set on IS and your blog about your sweet Emily came up. I just wanted to let you know there are many others out there who know what you are going through.

  5. Hi Leita! Thanks for reading about Emily. Actually our neuro just sent out our 2nd round of genetics and that was one of them included. However insurance just sent us a paper saying we would have to pay for 20% and it will be over $900. I don't know how they can do this. Now I don't know what to do.

  6. Maybe there is a research study you can link into?Then testing costs are covered by them.
    You could ask your geneticist whether he/she knows of any.
    Also, try doing an online search for anything to do with IS, Rett Syndrome or CDKL5.

  7. Erica, Rachel has been in glasses since 6 months old and underwent glaucoma treatment before that. Dr. Douglas with Louisville Opth. is a great pediatric optho dr. They basically dilate the eyes and can tell the vision by the roundness/out-of-roundness of the back of the eyes. They can do amazing things. Louisville is very close. You are very blessed to have good docs so close. LMK if you have any questions about baby eye appointments and what they are like. Praying for you all without ceasing, Denise

  8. Denise thanks for the info and I know its not that far but when you have a 9:15 neuro appt then a 4:30 optha. appt its too far. Long day in L-ville with a baby lol!