GSD XI

Neylan was growing well until 12 months of age and she dropped off her growth curve. In addition she started having developmental delays. We were sent to numerous specialists and only diagnosis they could come up with was renal tubular acidosis. But even with treatment with bicarbonate she was still not growing she was wasting away in front of us. We asked for a referall to Shands and nephrologist there suspected GSD. Off genetics we went. Took a year and we had diagnosis of GSD type XI. We finally got into see Dr. Weinstein 11/2014 and with a year of treatmenshe has normal labs has grown 4inches gained 18lbs and developmental delays are gone except for fine motor.