Sharing My Stripes By Margot Lafreniere

Overall since the diagnosis, we as a family have gone through various stages of grief and acceptance of Sophie’s GSD diagnosis. GSD 1b occurs in approximately 1/1,000,000 births. She is one of about 500-800 people in the world living with this disease. As I’m sure, it is for many rare diseases it can be very isolating most of the time. As a parent, it has left me feeling helpless at times. You never want your child to endure any sort of hardship. Never mind the hardships associated with living with a lifelong rare genetic disease. GSD diagnoses are not typically made the way Sophie’s was; for many, GSD is diagnosed in infancy when infants present with seizures and lethargy associated with hypoglycemia. For us, Sophie had a failure to thrive; she was not eating solid foods, not growing, or gaining weight at a normal rate. This led us to see a series of specialists, including a gastroenterologist, hematologists, geneticists, and metabolic specialists, ultimately leading to her diagnosis.

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