Pre-Diagnosis

Still dealing with the Pediatrician:

The pediatrician and based on the second ultrasound and blood work performed back in July 2017 (first one was done in May 2017 based on the early signs detected and based on my wife insisting we check his belly area), referred us to the liver specialist.

With the liver specialist:

The liver specialist performed another blood work and asked us to perform and ultrasound at sickkids hospital because they have better machines over there. Based on the results (November 2017), she said that she was referring us to the Metabolic division at sickkids and that our son might have GSD. For us, that was the first time we hear about GSD; and she told us to go back home and continue what we are doing (shocking!!!), and that it could take between 4 to 6 months to hear from the metabolic team at sickkids;

Finally, with the Metabolic team at Sickkids:

Way before the waiting period passed, our son got a pink eye, and so we decided to go to Sickkids and NOT to a nearby walk-in clinic hoping that we might stumble into a doctor at sickkids who might know more about GSD; Lucky enough, they paged the metabolic doctor on call and she was able to assess him and accelerate the entire process and gave us an appointment for next week so we visit the metabolic clinic at sickkids once his pink eye has cleared; After an initial assessment and some blood work they let us walk from the hospital and said that they will check the results and call us back; not even 15 min after, we were still in downtown Toronto, we got a call from the doctor, and he told us that our son’s sugar level is at 2.3; Accidentally and during the assessment at the clinic, we made our son fast (not eat) unintentionally, just because the doctors were all over him, checking his belly and asking us all kind of questions to see if we are  related for example; And that is how the metabolic team confirmed that our son was suffering from hypoglycemia and that is one of the major symptoms for GSD type 1;

All blood work and ultrasound results could be found here (Blood and Ultrasound Results).