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We’re excited to share Amber Robertson’s story in our newsletter as we work to bring two communities together — those affected by the adult-onset form of Glycogen Storage Disease Type IV (known as APBD) and those affected by the childhood-onset form (known as Andersen Disease).
Scientists describe GSD IV as a range of diseases caused by changes in the GBE1 gene. Since these rare conditions are different manifestations of the same underlying genetic root cause, our Foundation believes it’s important for these communities to join forces. By working together, we can identify more patients and families, build a stronger community, and promote advances in research and treatment.
In her story, Amber shares, “Even before Mia was born, I could sense that something about her was different. With my other children, I felt constant movement during pregnancy, but Mia stayed curled up in one spot and hardly moved at all. When I mentioned this to my obstetrician, he assured me that it was normal. But I was sure that there was something more going on."
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