Brielle

My name is Brielle Anderson and I am 5 years old. I was born in 2013, when researchers found the deletion of the 16th chromosome called GRIN2A. I wasn't diagnosed with GRIN2A until October 26th, 2016 by my neurologist Dr. Emily De Los Reyes. Since the moment I was born, I have been in and out of the hospital numerous times. My first visit to Nationwide Children's Hospital in Columbus, Ohio began when I was three weeks old when I was admitted into the hospital for a high fever of 102.5. At this time, I was tested for everything, however a reason could not be found. After spending three days in the hospital, I was sent home without a diagnosis or reason for the fever. This would be the first of many visits throughout my life. I was either at Nationwide Children’s or the pediatrician's office for a cough that was deep leading to bronchitis and or pneumonia.

 

Eczema lined my body from head to toe, you could peel my skin off like a snakeskin, I battled a double ear infection for 7 weeks straight, all of  which lead to failure to thrive. After crossing off everything on the list, I was sent to Children's for tube surgery for my ears at 4 months and at 18 months I was seen by a pulmonary doctor to evaluate my lungs. It was during this 3 hour procedure that my pulmonary, ear, nose, throat (ENT) and GI doctor would run me through another set of tests, where they found I was aspirating liquids into my lungs. They also found I had partially collapsed airways, and a cleft/slit in my vocal cords. From this, my doctors decided to thicken my liquids and surgically repair the vocal cleft to try to stop the aspiration. I was also having issues with choking on food and wasn't walking, talking or meeting milestones yet.

 

I began services through Help Me Grow, Early Intervention, and OT, Speech, and PT through Nationwide, as well. I finally took my first steps when I was 2 years old. After still struggling to meet milestones and continually being admitted due to my weakened immune system, we were sent to the neurology department for genetic testing, where I was diagnosed with GRIN2A. At the time of diagnosis, I was told there were less than 100 patients in the world. I also found out that my parents weren't carriers, which meant there was a less than 1% chance they could have had a child like me. There is not a lot of information on GRIN2A, which is why we want to raise more funds for research, but what we do know is epilepsy and communication, as well as developmental and academic delays, occur.

 

I use an AAC Device, as well as American Sign Language to communicate. We are also aware that regression can happen as well. There are some days when my balance is very good and other days, when I may fall a lot. In November, my first seizure appeared on a 24-hour EEG and I began my epileptic battle as my mother had to provide me with seizure rescue medicine on Jan 25th and March 12th and Sept 27th. During this same time, I was diagnosed with asthma and my vision was tested for farsightedness. My journey is unknown, but I do know that God chose my family and me and we will serve others in the best way we can through it all. My mother attended the very first GRIN conference in Atlanta in September and we believe this is only the beginning of not only helping me but providing HOPE to so many other warriors with GRIN1, GRIN2A, GRIN2B, and GRIN2D.