A Princess from the start

I guess I should start by saying "Hi". I'm Michelle, mommy to sweet Isabella who is almost 8 months now and my wild man Jackson who is almost 2 1/2. Wow these kids keep me busy!!

If you are reading this, I hope that means you are interested in the "Running for Bella" campaign that my incredible friend Allison is organizing. I am so excited for this run and the opportunity to create awareness not just for my daughters disorder Lissencephaly, but for neurological defects in general. This has been a whole new world for myself and my family, some parts good and some parts bad. I guess I'm writing so that you can get a glimpse into our life with a real life Princess :)

Well, a quick synopsis of the beginning of our new world. I had a normal uncomplicated pregnancy with Isabella with a fantastic delivery. We came home and did the normal newborn thing, everything was going fine. Around six weeks I woke up in the middle of the night inexplicably and looked at Isabella in her co-sleeper. She was having a seizure....or at least what looked like one to me. We took her to the ER, had a CT and got the worst news possible. Something called Lissencephaly. It took many days for this to sink in. I had never heard of it. All I really heard from the Doctor was "developmentally delayed" and that is all I needed to know. You just don't see something like this coming. I mean, it just doesn't happen to people like us, right?

The following days and weeks are so blurry to me now. A lot of chaos and emotional turmoil is about all I really remember. Thank goodness for auto pilot mode!! ;) We had tests and lots of appointments. We continued to get more and more bad news. My world seemed very surreal, like I was not really in it, just watching I guess. In the days after I researched and researched and researched until I couldn't read anymore about this disorder. In my research I discovered that most of the information available was written by a Dr. William Dobyns in Chicago. So I became focused on seeing this Doctor! Long story short, I weasled my way in there before she was 3 months old and met with the world expert! He told us even more bad news unfortunately. Isabella has Isolated Lissencephaly Sequence (ILS) and is a grade 1, which is the worst. So not only does she have a rare brain disorder, she has the worst he had seen. Dr. Dobyns did give us some great information and insight. He also gave us hope. He conducted a FISH test on Isabella's chormosomes trying to find out why she got this. Was it random? Was it from us? The test took WEEKS and I agonized every.single.day over the results. Finally the day came when I got THE phone call from Dr. Dobyns genetic counselor. The results showed a mutation (in the genetics world this is fantastic news) they gave us a 0% chance of reoccurance. Finally some good news for us and our family. :)

Some of you I'm sure are wondering what her prognosis is, and what issues we have with her. Basically she will function at a 1-3 month old level for the rest of her life. At 8 months she functions at about a one-two month level. She does not have head control, she cannot sit up, roll over, reach or grab objects. She also has neurological vision impairment which basically means she can see, but her brain doesn't process it. She does suffer from seizures on a daily basis. We had good control for about 5 months, and we seem to be losing ground right now. In the past we have really struggled with her feeding. Her brain seems to switch on and off. For now she is doing GREAT and even eating baby foods (she loves bananas best!) :)

Now about Isabella and NOT Lissencephaly. :) She is an absolute beauty (if I do say so myself), she has the longest eyelashes you will ever see. She loves her mommy (of course!), loves to take showers, enjoys music and me singing to her. She likes to "read" books and sit in her swing and watch her fishies spin. Big brother really gets her attention and makes her cry sometimes too :) She's a huge talker and will coo all day long if she's in the mood. Oh, and let me tell you, she is a drama queen like no other. She can make pout faces that will tear you to pieces. :) A true Princess, she loves pink, her whole room is a pink with a splash of pink. I make her tutu's and bows and I think she likes them :) Basically she is spoiled rotten, as she should be.

I will post more and try to keep everyone who reads this updated as much as I can. I cannot tell you how excited I am about this run. I think it is going to be incredibly special and we will make it FUN which is most important. :) It's November so if you haven't started training you better get started!!! See you there!