Nancy and Daniel: PPP2R5D

Nancy and Daniel have a six year old little girl named Avianna. When Avianna was a few months old, Nancy and Daniel started noticing that she wasn’t reaching milestones that other babies of the same age were. They started Avianna in physical therapy and she was still not progressing, so they were urged to see a geneticist and neurologist. It took doctors almost three years to diagnose Avianna with a variation of what is known as PPP2R5D. This condition is so rare that there are only 28 known cases in the world.

Avianna has severe scoliosis, low muscle tone and speech issues, so she has multiple therapies to attend in and out of school. Nancy and Daniel say that Avianna is a fighter who is always smiling and if it weren’t for her, they would not have been able to advocate and raise awareness for such a rare condition.

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