Friday, January 27, 2012


On Wednesday we had Isabel's 6hr EEG. For the most part, she did wonderful. Honestly...I'm not just saying that because I am her mom and I have to, I was really impressed with her. The only part that she hated was getting strapped down to put the electrodes on. She screamed like I have never heard before, sounds came out of her that I didn't think were humanly possible. But, as soon as she was taken out of the torture device and asked if she wanted a dog or a cat backpack she answered immediately with, "Meow". So she happily put on her cat backpack and into the small room we went. They had cabinets full of toys to keep her busy so we played for awhile, watched TV for a bit then had lunch. The nurse came in and asked if I could try to get her to sleep...ha! So I made a valiant effort (which the nurse saw since we were being video recorded). The nurse came in after about 10 minutes of watching me struggle to get her to lay down and told me to go take a break and that she would try. I politely laughed at her but gladly jumped at the chance to leave the room. When I came back 20 minutes later, Izzy was fast asleep. I don't know how those nurses do it! So Iz and I took a nice hour and a half nap and when she got up we only had about an hour left of the study. The nurse came in to get us and put Iz back in the torture device to remove the electrodes. Again, screaming and scary noises came from my sweet little girl. When she got up, her hair looked like a hot mess but she was still as cute as can be. The nurse sent us back to our room to gather our things and came back in with a giant green teddy bear for Izzy and a gorgeous green knit hat for her to wear home. She said she didn't want Izzy to get cold with her wet hair but I think she wanted to hide her crazy EEG hair just like I did :)
Overall it was a long day, but CHKD make the experience enjoyable for Izzy and for that we love them!!  

Wednesday, January 4, 2012

New Year/New Updates

A lot has happened since my last post and I honestly don't know where to begin. Isabel started having a string of seizures...maybe one or two a day for a few weeks, which prompted her neurologist (Dr. F) to want the genetic test run on her stat. To make a very long drawn out story short, we finally got the results back. Her PCDH19 gene is mutated which is the cause of her epilepsy. At this time there is not much known about this mutation. It is only found in females and was just discovered back in 2008. Nothing new can be done for Izzy at this time but we need to watch her very closely for the next few years. There is a 50% chance that she will regress around the age of 6 and mentally stay that age forever, but as Dr. F put it...he wouldn't count out high school or college just yet. It was a devastating diagnoses for us but we have learned to take it one day at a time. Thankfully she has not had a seizure in 2 weeks!
We also went to see hematology due to her lack of clotting when she got her blood drawn and her easy bruising. After a long talk with the doctor and a few tubes or blood we found out that she has low Factor VI or Hemophilia C. It's definitely not a huge concern but something that we will need to follow up with in February when we see hemo again.
Isabel has also been waking up screaming occasionally and holding her head. The first few times I gave her some Motrin and brushed it off but after the fourth time I called Dr. F. He said that migraines go hand and hand with epilepsy so he put her a preventative migraine medicine. Since we started it, she has become a different child. No more waking at night, so much happier during the day and she is eating much better too! I feel so bad for brushing off her pain for so long.
Lastly, poor Izzy has been having diarrhea for over a month so we took her to the pediatrician. They gave us lots of cups to take home to fill with "samples" and took some blood to run some tests. A week and a half later when I received a call from the actual pediatrician I knew that the news wasn't good. She tested positive for celiac disease. I guess this also can go hand in hand with epilepsy. I was told not to change her diet until we see the GI doctor at the end of January. I will make them test her yet again because this is a major lifestyle change for my baby.
I just wish that she could catch a break. Through it all she is such a trooper...she always has a smile on her face. She is teaching me an invaluable lesson and I will never forget it, she truely is my hero.