Meet Jackson

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. His mom, Jessica, says, “The team here was so much more thorough and listened to me. 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 age 15 months, Jackson was diagnosed with MECP2 duplication syndrome, a rare neurodevelopmental condition caused by an extra copy of the MECP2 gene. It is characterized by low muscle tone, epilepsy, intellectual disability, and impaired speech and motor function. 

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.  

The diagnosis also changed the way Jackson’s parents had their second child. Through Jackson’s diagnosis, Jessica learned that she is a carrier of the duplicated MECP2 gene. She and her husband decided to have their second child through in vitro fertilization (IVF) to prevent another child from inheriting the condition. Jackson now has a younger brother named Jude, who does not have the condition.  

MECP2 duplication syndrome is a progressive condition. Jackson’s future is uncertain because each child progresses differently. Jackson is at high risk for seizure activity as he gets older. Currently, he sees Phoenix Children’s genetics team about care he may need in the future.

Jackson’s parents were told he wouldn’t walk or talk, but he is able to do both. Jessica says, “Jackson is a determined kid with a spectacular mind. He is observant and curious. He is incredibly smart and surprises us daily with his problem-solving skills.”