Nancy and Daniel have a six-year-old girl named Avianna.  As a baby, she wasn’t reaching milestones like other babies her age. Her pediatrician suggested Avianna start physical therapy but she was still not progressing.  The next step was 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, there are only 28 cases in the world.

Life with a Rare Genetic Disorder

“You hear about families or parents who have a child with disabilities, but you never think it could be you,” Daniel said.  The day Avianna was diagnosed, Nancy and Daniel were given a piece of paper with the “name” of the diagnosis – PPP2R5D, and that was it.  The doctor did not have any more information or resources to give them.  Internet searches at home produced nothing as well.  Basically, doctors were getting their information from Avianna.

Right now Avianna has a full-time schedule of therapies in and out of school.  She has severe scoliosis, low muscle tone, and speech issues.  Despite her limitations, Avianna is a fighter and never gives up.  Her determination to improve her speech and physical abilities is an inspiration to Nancy, Daniel, and others who know Avianna.  “With everything that she has to go through, she still wakes up every day with a smile on her face,” Daniel said.

Best Advice: Don’t Give Up

PPP2R5D is a daunting diagnosis because it is so rare.  “Don’t give up fighting for your child and be their biggest advocate,” Nancy said.  Avianna would not be able to do the things she can do if her parents didn’t fight for her.  They made sure to utilize therapy and other resources to give Avianna the best life possible.

Nancy and Daniel joined other parents whose child has PPP2R5D in getting an organization to fund research for the mutation.  This never would have happened if these parents didn’t advocate for their children.  “She might not see any outcome of all the research, but she is going to help change the world and help others out there.”

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