When Kamryn West’s daughter Mazie was born, everything about her seemed perfect. She didn’t cry, and she looked healthy. There was no indication of the diagnosis that would come 10 months later.
“She was always smiling, always happy,” says Kamryn, who now works as an administrative assistant assigned specifically to genetic testing at Phoenix Children’s Hospital. “But she just never developed. She didn’t do the things other babies her age were doing. A suspected diagnosis is not an answer when you want so badly for it to not be true.”
Mazie was diagnosed by Saunder Bernes, MD, a neurologist at Barrow Neurological Institute at Phoenix Children’s Hospital, who took one look at her and knew what was wrong: Mazie had Rett Syndrome, a developmental disorder caused by genetic mutations on the X-chromosome.
Rett Syndrome is diagnosed in girls more than boys, and it causes issues related to cognitive, sensory, emotional, motor and autonomic function. Associated issues include scoliosis and seizures.
Mazie was only expected to live to age four, but she made it to 14. She died not long after she graduated from eighth grade. But before that, her mom made sure she had the opportunity to truly live. She had a yellow lab named Molly, who alerted others when Mazie was sick or about
to have a seizure. The little girl giggled whenever her mom drove over speed bumps, she wore a tiara almost daily and she went to school like other kids.
When Mazie went into respite care, Kamryn says she and several other family members began working in respite care to help others like Mazie. Then, her life and legacy encouraged the family to begin fostering and adopting children who were in need.
“Mazie changed everybody,” Kamryn says. “You have to decide how you’re going to let bad news change you, so we let it change us for the better.”
Mazie is also why Kamryn does what she does. Every day, Kamryn works to get genetic testing approved for their children. She took the job about a year ago because she wanted to help parents facing circumstances similar to the ones she did.
“If I can help just one family get a confirmed diagnosis, then it’s worth it,” she said, adding that Mazie’s geneticist, Theresa Grebe, MD, is now the physician she works for. Kamryn continues to share Mazie’s story to bring awareness to Rett Syndrome and encourage others who may be facing similar diagnoses. “Learn to appreciate the speed bumps,” she said, “because life has its speed bumps.”
For more information on Rett Syndrome and other neurological genetic disorders, please visit the Barrow at Phoenix Children’s Hospital website at