Hi My name is Xena and I am a gymnast!
Although we learned at birth that Xena was deaf, we had no idea she was also living with a rare disease.
Because of her small stature, Xena frequently underwent blood testing. One routine lab that was repeatedly flagged was her glucose level, which came back low several times. After months of diagnostic testing, including genetic panels, our pediatrician began to suspect a rare condition called Glycogen Storage Disease, or GSD, and ordered more comprehensive genetic testing.
When results revealed a mutation in the PHKB gene, her pediatrician consulted with leading GSD researchers to confirm the diagnosis and discuss treatment options and prognosis. A few months before her fifth birthday, Xena was officially diagnosed with Glycogen Storage Disease Type IX-b.
Xena is now is a thriving competitive gymnast. Despite living with GSD, which causes frequent episodes of low blood glucose, she continues to pursue the sport she loves. Because her body cannot properly break down carbohydrates, glucose does not efficiently enter her bloodstream. Instead, glycogen builds up in her muscles and liver, often placing her body in a ketotic hypoglycemic state. During these episodes, Xena may feel nauseated, dizzy, disoriented, and weak. At times, she requires hospital admission until her glucose levels stabilize.
To safely participate in such a high intensity sport, Xena undergoes regular monitoring, including bone density scans, abdominal ultrasounds, CT imaging, and routine bloodwork. She follows a strict, disease specific diet, drinks cornstarch mixed with water to help sustain her glucose levels, and wears a continuous glucose monitor to ensure her safety during training. When her glucose begins to drop, she is treated immediately with fast acting glucose to restore stability.
We have worked hard to turn Xena’s pain into purpose by advocating and educating others about Glycogen Storage Disease through her online platform. We refuse to let GSD, or her hearing loss, define her or limit her dreams. By sharing her story, we hope to inspire other families to find strength in their journey and transform their own pain into purpose.
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