Nora Skye was born normal and perfect. There wasn't anything that would ever lead you to believe that she has the genetic disease that she has. Nora started out being clumsy and bumping into things which seems very much normal. In a few months Nora had problems seeing her Dr Suess and her other favorite books. "Mommy I can't see!" Nora would tell me on occasion, but I was told that "little children lie for attention and not to take it seriously." I didnt listen to that advice and proceeded to hound her primary doctor for answers to be told she was normal.
Nora was still just a regular, smart, beautiful little girl like always. She would shake without a reason sometimes. The un-be-known to me "tremors" they are actually called needed to be treated with "almond butter" for lack of minerals or "mineral defiencey."
In the fall of 2008 there were more noticeable changes but trying to get the doctor to take me seriously was quite impossible. I was seen as a "overly-worried" and "too concerned" of parent so Nora's condition was easily dismissed. Nora really started to have vision problems. She couldn't see things that were very large. Like the Ten Pin Bowling sign by our house or the McDonalds on the corner that she loved. Whenever it seemed that I would take pictures of her with a flash, Nora would fall down or almost loose her balance.
The 22nd of December 2008 all of us went to my parents to celebrate Christmas with my family because of our family set up. I was taking pictures of Nora and she went right over backwards. It was very serious but the doctor wouldn't listen to me so I was quite unsure on what to do.
Christmas Eve 2008. There was a large, scary generalized seizure first thing in the morning it was around 9AM. It lasted 2 - 3 minutes and we did not know what happened. We had a new born baby. What happened to Nora looked like a "stroke" instead of an actual "seizure."
One side of Nora's face drooped, she slurred her words when she talked and could not move one side of her body. "Mommy move me! Get me up! the right side of Nora's body she couldn't move. She couldn't move her arm, leg or side of her face. My husband brought her to the Emergency Room, I had to call my Mom so she could help me with Baby Thomas.
The Emergency Room doctor that had help us ran blood work and a CAT scan and told us since she didn't have a fever to bring her home. He wasn't going to run any more tests on her and it was a one time thing and to bring Nora back if she had another seizure. So, that's what we did, we left. Nora had another seizure with my husband at the bank which was 6 minutes down the road 14 minutes later. When, my husband brought her back she had a full 5 minute, left side. Nora was then medicated because then the ER Dr finally believed us. Transport to Umass Childrens Teaching Hospital, Worcester MA.
Nora was than had a battery of tests and observations and then she was diagnosed with Epilepsy on the left side of her brain. She was was then medicated with Triliptal. The medicine had immediate affects withing about a week. She would scream and cry for hours every day. We did Keppra, Depakote, Valporic Acid. We always seemed to up her dose to the max and then have to change her medications. She had uncontrolled seizures alot. The Pediatric Neurologist who we say was Dr Seema Adhami. She was fantastic. She looking for the under lying problem from the first time that we met her in the ER. She had Nora do a 48 hr EEG, blood work, series of tests and MRIs. At the very end we did a pediatric emergency eye test with Dr Robert Gise out of Worcester who is the best you can find. I found out she was half blind. The back of her eyes were like crescents or half moons. We did her Epilepsy study 2 days after for 5 days. That was taking her off all her medications, gluing electrodes to her head and making sure she was on camera and keeping a diary and marking the EEG machine for when there was seizures and abnormalities. I watched her seize for all those days. At the very end before we were going to leave she had 5 huge seizures from 3-7 minutes within a hour and a half span. We got to go home and have baby number three, Alicia Marie whom Nora named to be baptized. Then we waited for 9 weeks or 10 weeks, for the genetic blood to come back. We were called on Fathers Day that there wasn't good news and on June 25, 2009 we had a appointment to be counseled in the "bad news room." We where told that Nora was diagnosed with a terminal disease called Classic Late Infatile Batten Disease. Dr Adhami had all the contacts all the information, she was awesome. We were devastated with the news.
I told my Mom and Dad first. Then I made up my mind two hours later, crying isn't going to save her. I'm gonna have to do something about it. June 25, 2009 was the day that I took it upon myself to save my little girl and all the little children like her. We are America, we have intelligence, the means, the technology. We have a powerhouse of Intelligence, Heart, Wealth to save my Nora Skye and the other children.
This is how everything started, but it's not Nora's ending.
