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.


  1. Hi!

    We have a group about Pcdh19 mutation. I have read your history. Please tell me if you are interested in our non profit associationd and in our research my email is

  2. My daughter also has a PCDH19 mutation. We have a small group of parents that connect on facebook. We are small, but informative and supportive. If you would like to, please join us at!/groups/pcdh19/
    If you have trouble, just do a search on facebook for PCDH19 and our group will pop up.

  3. Thank you both so much for your comments. I asked to join your group about a month ago but have not been accepted yet. I do look forward to getting to know both of you and hearing your experiences. I am very new to this and would welcome any help or advice you may have!

  4. Kim- we have just gotten the diagnoses for our daughter - we have tried to join the Facebook group but are still waiting to get in: ( did you get in?