Medical Mystery Solved
Celia’s parents have spent almost her entire life – six years – trying to solve her medical mystery.
Born a twin, Celia’s brother hit normal developmental milestones right on time, but Celia always lagged behind. By one-year-old, her brother was walking and Celia wasn’t even crawling yet. Then, the painful, odd movements started, and so did the unending doctor appointments.
“We live in Wichita and we went to so many doctors here – urology, acid reflux, neurology, etc – but no one in Wichita could tell us anything,” said Teresa, Celia’s mom. “Finally, we were referred to the Children’s Mercy genetics clinic when Celia was almost two years old.”
The Children’s Mercy neurology clinic provided a lot of answers for the family, including a diagnosis of dystonia that explained those painful movements. But genetic testing came back normal, time after time, until one day, the neurologist told the family about Genomic Answers for Kids and encouraged them to enroll in the study.
“I thought, sure – why not. We had tried everything at that point -- five years of testing -- and nothing could find an answer,” said Teresa, Celia’s mom.
Months went by and Teresa forgot about the study. Until she received an unexpected phone call from their Children’s Mercy genetic counselor and heard the words, “I wanted to let you know that the research team found the diagnosis for Celia.”
“My whole body was shaking. I started crying. It’s been so long, and so many things have been going on with her health over the years. I just couldn’t breathe that we now had a reason,” Teresa said.
Celia was diagnosed with a PDE2A disorder. She is one of only 5 people to have been documented with this disease in the United States. The symptoms of PDE2A align with every challenge Celia has experienced – movement disorder, developmental delays, low muscle tone, epilepsy and more.
“It’s so nice having a diagnosis,” Teresa said. “Even though we don’t know much about the disorder and there’s not much more we can do treatment-wise, it’s so nice to know what it is that’s causing her delays and challenges. She still doesn’t walk, she doesn’t speak but she does say mom. It’s nice to know what it is – we have that info for us, and for our other kids.”
Celia continues to receive care from a team of Children’s Mercy doctors who are committed to her well-being, and now they have added clarity when treating the symptoms of her rare disease.
Learn more about Genomic Answers for Kids at Children's Mercy Kansas City.
Read Katie's story.