We are excited to announce that Amber Robertson’s powerful story about her daughter Mia’s GSD IV diagnosis has been published on KevinMD.com.
Amber shared, “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.” Read more…
Editor’s Note: APBD (the late-onset form of GSD IV) and Andersen Disease (the early-onset form of GSD IV) share the same underlying root cause — changes in the GBE1 gene which causes deficiency of a protein called glycogen branching enzyme (GBE) in our body. Deficiency of this protein leads to dysfunctional glycogen storage and metabolism, and the build-up of harmful substances called polyglucosan bodies in different tissues. Given that these ultra-rare conditions are essentially different manifestations of the same biochemical problem, this provides a powerful argument for our APBD community and the broader GSD IV community to work together to identify patients and families, build power and strength in numbers, and advance research and therapies in development together.
A special thanks to Liv Palma, our Genetic Counseling Intern from Columbia University’s Department of Genetic Counseling, for drawing out this powerful narrative with Amber Robertson. With permission from Amber, this story is now featured in the APBD Research Foundation’s newsletter, kevinmd.com, and AGSD-UK’s newsletter to increase public awareness.
