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 severity of the diagnosis that would come 10 months later.
“She was always smiling, always happy,” says Kamryn. “But she just never developed. She didn’t do the things other babies her age were doing.”
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 in 2010. 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 since Rett Syndrome robbed her of the ability to communicate. Molly was a huge asset and helped let Kamryn know if Mazie needed to go to the doctor, which in turn helped cut down on so many visits to the hospital. The little girl loved to ride horses, listen to music, swim and laughed whenever her mom sped up to go 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 raise awareness and funding for a cure. She continues to share Mazie’s story and encourage others who may be facing similar diagnoses. “Speed bumps are annoying, but learn to appreciate them,” she said, “because life has its speed bumps.”