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 everytime she would wake up, so we made an appt. with her amazing pediatrician.

Once at the dr office she started to have another one and Brandon recorded it on his phone to show the doctor 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 Childrens Hosptial in Salt Lake City and told us we should 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 she was screaming the whole time they were putting the plugs all over her head and wrapping her head 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. What was causing my new little baby to have such horrible seizures?

The had already started her on a loading dose of medication called Phenobarbitol 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 were finally clear. Emma was diagnoised 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 is no definant 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 9.5 months old and she is quite the fighter. She is currently working with the early intervention program in our area. We are currently 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! EMBRACE LIFE!

2 thoughts on “Scary Facial Movements in Young Infant Were Early Alert for Parents”

  1. Thanks so sharing Emma’s story. It means so much to us to spread awareness of Lissenecephaly she also has a blog and Facebook page of anyone would like to follow for updates. 💜
    Blog: http://embracelifeemma.blogspot.com
    Facebook: Facebook.com/embracelifeemma

  2. Carolyn Diehl says:

    This started the same as our youngest son. At first it was an arm or leg shaking when I was nursing him. At 3 months he started having grand mal seizures on the drive to the Dr. he had 2, 1 in the waiting room and another when we were waiting for the Dr to come into the room. I took him to the Dr. at that time. When the Dr. saw what was happening he started the testing. He was put on Phenobarbital, and we were told to slowly increase the medication until the seizures stopped.
    His learning was different, He went to the Diagnostic clinic for neurological handicapped, at 4 and at 8 then he went to that special school for 1 year. He and a psychologist discussed his problem and found what they thought was the diagnosis and he has been diagnosed as Aspergers Autism & Epilepsy. High in Math, music and Computers but it hard for him to talk to some people and has problems with teachers instructions because he sees things in black and white. We learned how to help him learn, sometimes when he was young it was helping him make a list of what to do with a problem, he is OCD. the psychologist wanted him to go to a State University for testing but my son didn’t see any advantage to this. He is 38 and my only worry is how he will do when my husband and I are no longer here because he doesn’t leave the house unless he is with someone he trusts. Which is good because earlier when he was at Junior College he went with someone and they stole from him and lied to him. It was a good learning experience. I don’t know where I was planning to go with this but we are still working on life.

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