Meet Gemma

Gemma’s journey to Phoenix Children’s began when she was about 6 months old. Her parents noticed that she wasn’t reaching her developmental milestones. “She wasn’t doing things that a typical baby would do,” says her mom, Marli. 

In February 2020, Gemma’s pediatrician sent her family to Phoenix Children’s neurologist Dr. Saunder Bernes. He diagnosed Gemma with microcephaly, a condition in which a baby’s head is smaller than normal. He ordered genetic testing. 

About a week later, Gemma’s parents noticed that she was making an unusual motion in which she would roll her eyes and drop her head. Her parents filmed it and shared it with her pediatrician and Dr. Bernes, who told them to take Gemma to the emergency department. There, an EEG showed hypsarrhythmia, chaotic and disorganized electrical activity in the brain—a sign of infantile spasms, a type of epilepsy.   

The results of the genetic testing provided answers for Gemma’s family. She was diagnosed with an exceedingly rare genetic condition called TRIT 1, a type of mitochondrial disease. According to a November 2022 article in the Journal of Inherited Metabolic Disease, only 13 people worldwide have been diagnosed with this condition. 

Gemma’s parents got genetic counseling to help them understand her condition. All of Gemma’s care is at Phoenix Children’s, and she will continue to receive care here until she ages out. TRIT 1 affects all of Gemma’s body systems. She uses a wheelchair, gets nutrition through a G-tube, and uses an augmentative and alternative communication (AAC) device because she is nonverbal.  

Because Gemma’s condition is so rare, her family doesn’t know what the future holds for her. They want to give her the best quality of life and make her comfortable and happy. Phoenix Children's Palliative Care program, which is made possible thanks to philanthropic support, has been an important resource for them. Marli says they “roll with the punches” and allow Gemma to let them know what she needs. 

“Gemma has taught me to speak up when something doesn't seem right; to advocate for her rights and needs; to collaborate with the health care team for the best outcomes; to really learn so much about the health care system; and to raise awareness and help other families.” 

Gemma has benefited from several other philanthropy-funded programs, including Child Life and the Animal-Assisted Therapy Program. She loves her family's two dogs, and the therapy dog visits bring the whole family “a little piece of comfort from home,” Marli says.

Marli describes Gemma as super sassy but also very sweet. Although she is nonverbal, she is very communicative and can tell you exactly what she’s feeling. Overall, Marli says, Gemma is a happy kid who loves to smile and laugh. “You wouldn’t know half of the adversity she’s gone through,” she says.