Everett's Story

Everett is a sweet boy who loves books, hugs, and friends. He loves going to school, visiting animals at the zoo, and watching Toy Story.

Everett is surrounded by family, friends, teachers, and a community who love him and gives him all the attention and care he could ask for. Everett has also been physically and intellectually delayed since birth, which left his family constantly wondering what they were doing wrong. It was not until nearly his second birthday that they received his diagnosis.

In 2018 Everett was diagnosed with MECP2 Duplication Syndrome, a disease who's symptoms have left him without speech and the ability to do most tasks independently. As his diagnosis is quite rare, his parents were lost and left searching for answers and support. With the help of the Tucson community they were eventually able to navigate medical and support networks, gain access to state services, and discover a community of people who wanted to help. While Everett's diagnosis might be considered "rare", his needs were not. His family was able to learn about the supports our community provides by meeting and talking with parents of children with other diseases and disorders.

Everett was the inspiration for the very first Rare Disease Day Tucson in 2020. The event was created as a way for his family to give back to the Tucson community and to help connect other families to support and advocacy. While life is not easy with the challenges Everett faces, he is not in the fight alone, he has his entire community right with him.

Alone we are rare, but together we are strong.

MECP2 Duplication Syndrome

MECP2 duplication syndrome is a rare genetic neurodevelopmental disorder characterized by a wide variety of symptoms including low muscle tone (hypotonia), potentially severe intellectual disability, developmental delays, recurrent respiratory infections, speech abnormalities, seizures, and progressive spasticity, a condition characterized by muscle stiffness that is worsened with movement and can be associated with involuntary muscle spasms. Additional symptoms can occur. MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome (Xq28). This region includes the MECP2 gene and typically several adjacent genes. In most affected individuals, the MECP2 duplication is inherited in an X-linked manner; in rare cases, the duplication may occur randomly for no apparent reason (de novo duplication). The disorder predominantly affects males, but females who carry the duplication on one X chromosome (heterozygotes) may exhibit some signs of the disorder. Rarely, females can develop a severe form of the disorder similar to males