Remi Rose was born on the 10 December 2019 in our small home town of Griffith in NSW Australia.

Remi is our second child. Remi has an older Brother Nate, who has been smitten with her since the day he met her.

For the first few days following Remi’s birth, she would have these “choking episodes” that lasted approximately 30-60 seconds. The nurses on Maternity ward put it down to Remi being born fast and clearing her lungs of fluid she may have swallowed during the birth. We later realized the choking episodes were seizures.

Remi was an unsettled baby from about a week old. She was hard to feed, had terrible reflux and would often scream for 6 hours straight as though she was in horrible pain. At 5 weeks old, I went to check on Remi and found her to be blue/grey in the face, listless, a high temperature and her breathing laboured. I immediately took her to our local hospital. Remi and I were flown to Randwick Children’s Hospital in Sydney for a suspected twisted bowel. After further testing in Sydney, it was found that Remi did not have a twisted bowel but continued to have high temperatures and was unsettled. Remi underwent many different tests, however, no cause was found for her high temperatures at the time. It was decided that she was most likely dairy/soy intolerant. I gave up all dairy and soy immediately (breastfed). Remi continued to have “choking episodes” this was put down to her choking on her reflux. Remi was also diagnosed as “failure to thrive”.

Once home we were referred to our local paediatrician who I raised concerns with for Remi’s development. Remi wasn’t tracking, wasn’t gaining weight and was not smiling. If I didn’t have Remi’s older brother to compare her with, I don’t know if I would have noticed Remi’s lack of development as early as I did. Our paediatrician referred us to a neurologist who suggested an MRI and EEG. I showed both the paediatrician and neurologist the videos I had taken of Remi’s “choking” episodes. Both agreed that it appeared a symptom of reflux as she would vomit after the episode.

Remi began to have between 30-50 of these “choking” episodes a day. Remi was starting to turn blue during these episodes. I took Remi to our paediatrician who had her admitted to Children’s Ward for observation. The nurses also saw these “Choking” episodes, but were not believed at the time by the doctors that they were seizures. As we were discharged, Remi had one of these episodes in front of the paediatrician who immediately organized an EEG. The EEG showed that there was seizure activity. Remi was prescribed Keppra.

Remi’s MRI showed that she had an enlarged cerebellum which was a sign of a deeper issue. We were referred to a geneticist who did genetic testing on Remi, my husband and myself. The wait for those results was torture. We knew deep down they were going to show something as by this point it was very obvious that Remi was behind her peers in her development. Remi’s genetic results showed that she has Grin2B. I remember the feelings of anger. Why has this happened to us, to our baby girl? We didn’t want to be parents to a disabled child – That was not part of the life we had dreamed of.

We go through many different emotions during this journey we are on with Remi. Life is hard at times but so very sweet other times. When Remi is happy, she is so much fun to be around. Sometimes it is hard being out of the house as Remi can get overwhelmed by loud unfamiliar noises.  Remi still cannot sit or roll and has poor head control. Remi has a lovely early intervention team who are so invested in her and her future. Remi has two sets of grandparents who just absolutely adore her and are there to pick up the pieces for my husband and me when we feel so overwhelmed by it all.

It is scary to think of the future. I try not to, but the thoughts creep in – usually in the early hours of the morning when I should be sleeping. It is hard to accept that this is our life now. Remi also has a cortical visual impairment which has been hard to accept. I couldn’t imagine life without our Remi girl. Her big brother is so amazing with her and has more patience for her crying than we do!

My advice to other parents who have received a diagnosis of Grin or like Grin is to not compare. Each child with a grin disorder is on their own journey. Also accept help from family and friends. Without our friends and family I am not sure we would be able to cope as well as we are.