A Family’s Fight for Answers

When Jackson was an infant, his parents noticed that he was having difficulty feeding. They struggled to find a doctor who would listen to their concerns, so they brought him to Phoenix Children's for another opinion.  

“The team here was so much more thorough and listened to me,” says Jessica, Jackson's mom. “We were thoroughly impressed with how compassionate and thorough the physicians at Phoenix Children’s were. Multiple specialists communicate with each other, making my load as his mom much lighter.” 

 At 15 months, Jackson was diagnosed with MECP2 duplication syndrome, a rare neurodevelopmental disorder caused by an extra copy of the MECP2 gene. Symptoms typically include low muscle tone, epilepsy, intellectual disability, and impaired speech and motor function.  

Red flags and unanswered questions  

For Jackson, it started with feeding difficulties caused by low muscle tone. He also experienced gastrointestinal issues, including vomiting episodes that caused him to faint. He wasn’t meeting his developmental milestones, either.   

 Jessica says that these things seemed like big red flags to her, but no one would listen to her. When the family finally got his diagnosis at Phoenix Children's, it filled in a lot of gaps. 

After Jackson's diagnosis, the family’s world shifted. Jessica stopped working to become his full-time caregiver, an experience she says has shown her strengths she didn’t know she had. Jackson's journey has completely changed her views on children with disabilities, but it has also brought her worries that she never wanted to encounter, she adds.   

Defying expectations 

MECP2 duplication syndrome is a progressive condition. Jackson’s future is uncertain because each child progresses differently. Children with this condition are at high risk for seizure activity as they get older, and their long-term prognosis is strongly connected to whether they develop seizures. Currently, Jackson sees Phoenix Children’s genetics team about care he may need in the future. 

Jessica says she won’t let Jackson’s diagnosis dictate what he can and can’t do—he’s already achieved milestones that she wasn’t sure were possible. His parents were told he wouldn’t walk or talk, but he can do both. Now 7, he enjoys playing with toys, reading books and doing puzzles. His younger brother, Jude, is his biggest fan.    

“Jackson is a determined kid with a spectacular mind,” Jessica says. “He is observant and curious. He is incredibly smart and surprises us daily with his problem-solving skills.”