Juleyana Joy's Rare Story: Infantile Seizures and Reflux Didn't Explain It All

Juleyana is 19 months old and she is the youngest child of three.
She was born at term with no complications. We knew something wasn’t “right” early on. She cried and spit up more than our other children. She was diagnosed with reflux at two months. We still felt there was something more. Unfortunately, there was. She had her first seizure at 5 months old. She was small for her age with a smaller head as well. Juleyana had a few more seizures for the next few months. The doctors were not sure if they were seizures because they were atypical. We had CT, EEG and all were normal. At 7 months she had a barium swallow and PH probe, both studies showed reflux. We had her on omeprazole for the reflux.
Juleyana has more doctors than most, general peds, neurologist, GI, genetic doctors, and metabolic geneticists.
At 11 months Juleyana wad grossly delayed and had her biggest seizure episode. It was then that she was started on anti seizure medications. So far, we have had good results. We had an MRI and that returned white matter hypoplasia.
Since 11 months, Juleyana has had a tough schedule for therapy. She has two physical therapy sessions, two occupational therapy sessions, one speech session and two in-home sessions all in five days. She has made so much progress in the last 7 months. She is now pulling to stand, crawling around, clapping, finger feeding, has some words though she doesn’t communicate them regularly. Her smile can brighten the darkest room. She gives the most tender kisses, and her eyes are ocean blue.
December of 2016 Juleyana was diagnosed with a rare genetic disorder Asparagine Synthetase Deficiency on the ASNS Gene. This doesn’t define who she is.
We feel that this is a very underdiagnosed disorder and hope to bring light to this newly found disorder. We hope that there will be an intrest for researchers.
We love our little girl more than words. She is a beautiful soul, she is not defined by definition , but by the way she brings joy and life to those around her.
Our full detailed life story can be found on our blog. Thejoyofjules.blogspot.com