Our road to parenthood was challenging and we were thrilled to finally welcome our first child, Oliver, on March 24, 2013. He was born with jaundice and had difficulty gaining weight from the start. Formula supplementation along with reflux meds were prescribed, little knowing this would be the beginning of our constant struggle to help him gain weight.
At two months, a grandparent mentioned that Oliver's eyes weren't tracking or following like a typical baby. A pediatric ophthalmologist diagnosed Oliver with Cortical Vision Impairment (CVI), a condition where the brain does not properly communicate what the eyes are seeing. The ophthalmologist referred us to a neurologist and so began the dual worlds of medical testing and early intervention education and therapies.
Since we lacked a diagnosis for Oliver we did not know his prognosis or life expectancy. This was both a dark time and a time of intense reflection for us, as we learned what really mattered in life. There were days Oliver would cry constantly or be extremely agitated/angry and we learned, in addition to his CVI, he had significant GI issues. Nothing however could keep him down and there were also many joyful days. Oliver smiled and laughed early and to this day he is a world class snuggler.
Two weeks prior to the birth of our neurotypical daughter we connected with a new team of doctors at Boston Children's Hospital. More testing ensued and in a final ditch effort for answers our blood and Oliver’s was sent to BCH’s Manton Center for Orphan Disease Research. We were told it could take months or even years to hear anything, so we all but forget about the tests in the chaos of raising essentially two babies.
The call came in September 2016 that researchers had found an answer and Oliver had a genetic variant called GRIN1. We felt intense relief and excitement that the quest for answers was over. We immediately began to learn all we could about GRIN1 and connected with other parents whose GRIN1 children looked remarkably like Oliver and shared many of his struggles.
We looked forward to a lively discussion with our geneticist about GRIN1 at our confirmation appointment, but unfortunately, even at a world class hospital, we were met with skepticism and a lack of knowledge about whole exome sequencing. We left the appointment angry and deflated. Thankfully we were able to connect with a new team at BCH who were studying GRIN variants and we finally felt we had found our medical family.
At almost 7 Oliver is non-ambulatory, non verbal, and receives most of his nutrition and medication through a G-tube. He loves the outdoors, music, and conversing in his own way with friends and family. His smile and infectious laughter can light up a room and he makes friends wherever he goes. The joy he brings our family is immeasurable and we will continue to be his advocate and champion, cheering loudly for every inchstone achieved.