Emmi was born in the Australian summer of 2018.

For the first few months everything seemed to be typical newborn behavior and being our first child, we were none the wiser. She was the most beautiful baby we had ever seen!

At four months, Emmi stopped sleeping and she would spend the night screaming and unsettled. This went on for months and months on end. She would maybe cat nap for 30 minutes at a time in the day and I soon started noticing she wasn’t developing as other children were at that age. She never put toys or food to her mouth, and she was struggling to put on weight.

I made weekly visits to Emmi’s pediatrician as I was struggling with this unsettled baby and I just knew in my gut something was wrong. After being sent away time and time again being told that I just have a lazy baby and that they all develop at different stages I finally insisted we see a Neurologist.

Our Neurologist ran numerous tests on Emmi including MRIs, lumbar puncture, EEGs and some general genetic testing. Everything came back clear!

In April 2019 we saw a geneticist who advised on extensive genetic testing with both my husband and I giving our blood and along with Emmi’s it went to be examined. After a long six-month wait, we finally had answers. Emmi has GRIN1 (de-novo) and the same variants as some other children across the globe.

The specialists didn’t know anything about GRIN1 and very little information was given to us. But we’ve been fortunate to connect with other families across the world who all provide each other with huge amounts of support, encouragement and love.

It’s so hard not being able to have your child communicate with you to tell you what is troubling them. The days and nights are very long and extremely exhausting, but we will never stop in providing Emmi with the best life we can give her and helping her reach her greatest potential. She is our little superstar!