Genetic Counseling Helps Mattie Understand Her Condition

What genetic counselors do

Genetic counselors are health care professionals who are specially trained in medical genetics and counseling. When a patient is found to have a genetic condition, genetic counselors have 2 important jobs: to help the patient understand their condition and to give emotional support as the family adjusts to a diagnosis. For Mattie, Blake has been there every step of the way, helping her family learn what NF2 means and how it could affect Mattie’s future.

“In the pediatric cancer space, the genetic conditions are called cancer predisposition syndromes,” Blake says. “Children who have these genetic conditions have a higher risk of developing cancer in childhood or throughout their lives.”

If a child has one of these syndromes, the cancer predisposition care team will create a plan to screen for tumors. Blake will usually offer genetic testing to the family to find out if the syndrome was inherited.

A genetic counseling visit

When Blake first meets with a patient, she asks about family history and checks if genetic testing is needed. She orders the tests and explains the results. At follow-up visits, she teaches and supports the family—sometimes using dolls or other toys.

“Genetics doesn’t have to be scary,” Blake says. “We can use new technology to help kids get the care they need and stay ahead of problems.”

What genetic testing revealed

Mattie’s family decided to get tested to see if the gene change that caused her NF2 was inherited. Her parents and little sister came back negative, meaning the condition started with Mattie. If Mattie has children, they will have a 50% chance of inheriting that gene change.

Blake recalls Mattie’s maturity throughout the process.

“When her little sister tested negative, Mattie was thrilled,” Blake says. “She understood the implications far better than most kids her age. Her faith is also incredible—it’s something that stood out to me from Day 1.” 

Mattie’s life today

Mattie is now in 5th grade. She loves playing outside with her sister, watching movies, and singing.

Her brain tumor caused almost complete vision loss in her left eye because it affected her optic nerve. But Mattie has learned to adjust and use her right eye.

“The body is pretty amazing and can compensate, especially in kids,” Blake says.

Mattie’s joy shines wherever she goes.

“She loves to compliment people,” Mattie’s mom says. “At St. Jude, she’ll pass people in the hallway and tell them she likes their shoes. She just makes people feel great about themselves.”

Blake adds, “Mattie has been a light to others, even during tough times. I remember the first time we met—she was cracking jokes left and right. Every time I’ve seen her since, she remembers me and asks how I’m doing. She’s truly remarkable.”