October 18, 2000...the day our daughter, Torri Alexis Gilbert, made our family complete. After a bout of premature labor at 31ish weeks followed by a week of bed rest and medication to keep labor at bay, Torri arrived weighing 9lbs 3 oz. What a beautiful bundle of joy we had received...our Princess!! Torri was such a happy little girl. Being our second child, all seemed normal and “as expected’ until she reached 7 months of age. Then suddenly, our happy, cuddly, snugly little girl seemed to disappear, literally in a span of 72 hours. She no longer smiled or laughed. She no longer wanted to be held or cuddled. She no longer visually tracked or exchanged interaction. She no longer tried to hold toys or her bottle. She no longer held her head up and she appeared very floppy. Where had our little Princess gone?
After a few appointments with Torri’s primary care physician, who was convinced everything was ok and informed us that we shouldn’t compare her development to that of her older brother’s, Torri was referred for a PT eval due to hypotonia. Therapy commenced and Torri seemed to make progress; it was slow progress, but it was progress. Shortly following starting PT, occupational and speech therapy were also added to Torri’s services. She still did not have a diagnosis for all of her apparent delays though and we as parents still wanted to know why Torri was missing milestones.
Prior to the age of 5, Torri was evaluated by several specialists throughout New York State and in Boston. She had developed severe reflux, was not gaining weight and was frequently ill to the point she would be hospitalized for days at a time. Around age 3 she became so ill that her organs started to shut down and we were informed we needed to prepare for the worse. As a life saving measure, a G-tube was placed and being the fighter she is, Torri regained her health. Over the next couple years, she underwent spinal taps, muscle biopsies, endoscopies, MRI’s and genetic testing. She had been tested for Fragile X, Rett’s Syndrome, Angelman Syndrome, Mitochondrial Disorder to name a few; all of which were negative. Hence the only diagnosis Torri carried at this time was Global Developmental Encephalopathy and our journey for a diagnosis continued.
At age five, Torri was diagnosed as failure to thrive. She weighed 24lbs, still had severe reflux, progress had plateaued, seizures had commenced and we still had no answers as to those missed milestones. The next several years were spent trying to manage absence (petit mal) seizures that had turned grand mal (she was experiencing 25+ day/night) as well as her nutrition. She treated with a homeopathic doctor for 12 weeks which involved a strictly organic diet, significant allergy testing/shots, chelation, dry sauna treatment as well as hyperbaric chamber treatment. Torri responded very positively and there appeared to be a brighter light at the end of the tunnel for once! She gained weight, her bubbly personality returned, she started visually tracking again and she wanted to be hugged! Treatment was discontinued due to excessive cost that was not covered by insurance that we could no longer afford. Seizures continued to be uncontrolled however resulting in being referred to a neurologist that specialized in the ketogenic diet. At age 11 Torri commenced the ketogenic diet, via her G-tube. Her seizures significantly decreased in quantity, but the severity of them significantly fluctuated.
Around age 14, Torri suffered a hip fracture resulting in a body cast for 3 months followed by a femur fracture which led to a diagnosis of Osteoporosis. She continues to undergo Zometa infusions to build new bone. Her neurologist continued to research possible underlying diagnoses for Torri’s overall delays and ordered some genetic testing which didn’t reveal any answers for us, hence Torri was referred to a neurogeneticist who performed Whole Exome Sequencing and we received her GRIN1 diagnosis. There are no other known individuals that share her mutation. And although the diagnosis was bittersweet for us, it has introduced us all to a wonderful GRIN family who understand Torri’s and our challenges as well as the small (which are actually huge!) victories.
Fast forward, at Torri’s current 18 years of age, she is non-ambulatory, non-verbal, receives all of her nutrition and medications via her G-tube and continues with multiple weekly PT/OT/ST sessions. Progress continues to be very slow...but it is progress!! Her seizures have significantly decreased since recently introducing Epidiolex to her medication regimen. She’s been free of fractures for over four years. She’s avoided long-term hospitalizations due to illness. Torri will always reside at home with us and we will always make every attempt to provide her with the best quality of life possible as well expose her to new experiences that we think she will enjoy. She loves being outdoors, music, bubbles, being read to and retail therapy! As her parents, we have learned her non-verbal cues and we have learned to advocate for her knowing she will never be able to independently advocate for herself. Torri has been such a blessing to us and she has a unique way of leaving a special touch on the lives of everyone she encounters. Having a child with GRIN has encouraged us to develop a “new normal, our normal.” We no longer take anything for granted; we take one moment at a time; we continue to strive to make life better and we will always love Torri unconditionally.