May 27, 2021
Payton Receives a Life-Changing Diagnosis
Geneticists have identified Payton with a newly discovered and extremely rare genetic disorder known as DDX3X syndrome.
Payton Malloy is known for her enthusiastic personality. Every time she meets new people, she excitedly asks them about their pets. She loves to talk about her own cats, Whiteface and Bob, and her dog, Oz, named after The Wizard of Oz – her all-time favorite film.
“People are drawn to Payton,” says Roxanne Monteleone, a Care Coordinator at Person Centered Services, who helps connect Payton to resources and opportunities. “She touches people, she really does. The first thing you notice is her smile and her giggle.”
When Payton, now 19, was only six-months old she began to have severe medical issues, including seizures. She was enrolled in Early Intervention because of developmental delays. During this time, she required a feeding tube and frequent visits to the hospital.
“We didn’t think she’d walk and talk,” says Amanda, Payton’s mother. “We went through the stages of grief. But Payton has always surprised us.”
No one could give the family a precise diagnosis for the source of Payton’s symptoms. Because of her many medical issues, Payton has worked with 17 different specialists. The family met with doctors in Maryland, Massachusetts, New York, Pennsylvania, and Ohio, hoping to find answers and solutions for Payton’s unique needs.
Five years ago, the family visited a neuro-geneticist and provided a genetic sample from Payton. Unfortunately, they did not receive any answers at the time. They gave the hospital permission to keep Payton’s DNA for further research.
In April of 2021, the family received an unexpected phone call. Geneticists had finally found a diagnosis for Payton. They identified her as having a newly discovered and extremely rare genetic disorder known as DDX3X syndrome.
DDX3X is the result of a spontaneous mutation that occurs during conception. It is unrelated to the genetic history of the parents. So far, there are less than 600 known cases of DDX3X in the world.
“After almost 20 years, I never thought we could get an answer,” says Amanda. “This just shows that you should never give up hope!”
Amanda and her husband Dave quickly joined a Facebook group for families who are also affected by DDX3X syndrome. They bonded instantly with the other families over similar life experiences. They now plan to attend a special weekend in Arkansas with some of the families and to attend a medical research conference in Florida.
“It feels like we belong now,” says Amanda. “We have found our own tribe! We encourage everyone to visit ddx3x.org to learn more about the syndrome.”
The revelation of Payton’s diagnosis comes at a key point in the young woman’s life. Next year will be her last year of high school, where she is very involved in activities. She is part of the student council and looks forward to attending prom next month with her dad.
“Payton is known as the Mayor at her school,” says Amanda. “Every day, she has to say ‘hi’ to everybody. We live in a small community where she has been very much included.”
In this time of many changes, Roxanne Monteleone will remain a key support for Payton. She is helping the family through the transition process, making sure they will have the funding they need for Payton’s medical requirements.
Through family reimbursement, Roxanne has connected Payton to baseball practices and dance classes that are tailored to her abilities. Payton will be able to continue these activities after school ends and will be linked to other supportive opportunities.
Roxanne is also in the process of linking Payton to Self-Directed Services, making sure that the family will be enrolled in the right programs for medication administration. Additionally, Roxanne has helped the family enroll in Social Security Income for Payton. This continues to fund costs related to her complex medical needs.
“The Malloys are an amazing family,” says Roxanne. “They are such an inspiration to me. Working with them has been a true blessing.”
In the days ahead, Person Centered Services is committed to connecting the Malloys to the care, support and opportunities they need for Payton to thrive.
Payton (right) pictured with her mother Amanda (left).