The Diagnosis

We noticed Lady A was super stiff when we got her. I mean stiff as a board and would "twitch" every once in a while. Thru working with her and loving her she has "loosened" up and becoming much more flexible. 

We were sitting on the couch with her one day and she started "twitching" for 4 minutes. Not violently shaking like you think when you think of seizures. But more of stiffening her whole body then relaxing, repeating that for 4 minutes. Very very scary. Took her to the ER and were able to get a MRI & EEG which diagnosed her with Lissencephaly and the EEG showed these "twitches" were infantile spasms (baby seizure). 

Lissencephaly, which literally means “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly).  Lissencephaly is caused by defective neuronal migration during embryonic development,  the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.

The spasms are due to the LISS. We are approaching a treatment for then with a high dosage of steroids. Hoping it keeps them at bay and then we will reassess as this is not a long term solution. 

We are now scheduling EarlySteps to come out and assess her development and figure out a plan for her, working with ophtomology to get her "lazy eye" working so baby girl can see and following up with Neuro.

It's scary. Scary to have a "special needs" child. Scared of the unknown. What if she doesn't develop past where she's at? What if she never walks? Never talks? 

All this being said, and all these fears, GOD MADE HER PERFECT. She is his perfect image. She is no mistake. There is nothing "wrong" with her. She is fearfully and wonderfully made and we are blessed to be her parents. We are blessed that God put us together to be a family and honor him. Whatever we have to face we know that God has this already mapped out, he has a special plan for her life.