Emma was born on March 20, 2015 via c-section (planned-a repeat) after a healthy and normal pregnancy. She seemed to be a perfectly healthy baby. She was discharged from the hospital on March 23, 2015, her parents and big sister were thrilled to have her home. Her first night home I (her mother) was waking up with her and she was doing something that did not seem normal. I watched and held her as her body would twitch, eyes would blink faster than you could ever imagine and her lips were making a loud smacking noise. It scared me to death so I woke up Brandon every time (4 times) and each time he would take her because she was screaming and she would finally calm down. Brandon thought she was just a daddy’s girl (which I am sure she is) but this time that wasn’t the case. The next day I was seeing her do the same thing every time she would wake up, so we made an appointment with her amazing pediatrician. Once at the doctor’s office she started to have another one and Brandon recorded it on his phone to show the dr again. At this point they were lasting about 30-40 seconds (the longest seconds of my life). The doctor did a check up and watched the video and confirmed that yes she was having seizures and we needed to get in the car and drive straight to Primary Children’s Hospital in Salt Lake City and don’t stop anywhere. Ava was with my parents and they were okay with keeping her for another night so we did just as Dr. Greenberg had said and drove straight to PCH where he had the best of the best waiting in the ER for us to arrive.
It was about 6 PM when we arrived at PCH and at that point she had had about 10 seizures. When we got there they took us back right away where they started to do a numerous amount of tests including two failed spinal taps (my heart was breaking). We were then admitted to the hospital for them to run an EEG on Emma, who was screaming the whole time as they were putting the plugs all over her head and wrapping it up in bandages. Because of all the trauma she endured she ended the night with about 25-30 seizures. The next morning (March 25, 2015) we started to get results of the tests from the night before which were all coming up negative, we were getting frustrated because we couldn’t figure out what was causing my new little baby to have such horrible seizures?
The had already started her on a loading dose of medication called Phenobarbital so she was very, very sleepy and stopped eating so they had to put in a feeding tube. That afternoon Emma had an MRI and the cause of her seizures was clear. Emma was diagnosed with a rare genetic disorder called Lissencephaly, this effects only 1 in 100,000 live births. Lissencephaly means smooth brain in Latin, Emma’s brain doesn’t have the grooves and folds like a normal brain. It can also be known as ILS (Isolated Lissencephaly Sequence). ILS is caused by a deletion on chromosome 17. This disorder is due to a random gene mutation between the 12-14 weeks of gestational development, this could not be prevented and there is currently no cure.
Doctors say that she will most likely be severly developmentally delayed, but anything is possible and only time will tell. Here is a link to the paper work that we received in the hospital. There are a lot of other websites with information regarding Lissencephaly but this is the one that they recommended. Don’t get me wrong we have searched and looked on lots of websites but there is no definite answer of what our future with Emma will look like. It will always be a day to day process and we can only hope for the best.
Emma is now 5.5 months old and we are still having our ups and downs. She is currently fighting infantile spasms (type of seizure) we are on medication number three and hope it works. She is currently working with the early invention program in our area. We are working on head control and tracking with her eyes. Muscle control is still really hard for her but we keep fighting everyday and as a family we are learning our “new normal” and we are so thankful for her amazing big sister who has helped us to see what love it all about!