Like other 10-year-olds, Zoey Adair loves music, swimming and animals. She also loves to be around people, said her mother, Deanna Adair.

"Zoey is a very happy girl with a great sense of humor. She has very expressive eyes," Deanna shared, noting that her daughter also enjoys adaptive skiing and plans to try adaptive surfing this summer. "She is a thrill seeker and enjoys activities like zip-lining and amusement park rides. She loves having the wind in her hair."

Unlike her peers, however, Zoey faces a challenge: She has Rett syndrome, a neurological disorder caused by a random genetic mutation. July is Disability Pride Month, and Deanna shared Zoey's story to raise awareness of the condition and underscore the importance of support for children with disabilities.

Because of the gene mutation, children with Rett syndrome regress developmentally between 6 and 18 months, often losing hand function, speech and mobility. Many experience seizures, scoliosis, heart problems, feeding and sleep issues and apraxia, leaving them "trapped" in their bodies, though eye gaze technology can help them communicate.

"Zoey is fortunate not to have seizures or heart arrythmias at this time, but she has never walked or talked, has had several orthopedic surgeries, including spinal fusion and bilateral hip reconstruction, and she uses a BIPAP machine for sleep apnea," Deanna explained. "Prior to her regression, she was able to use her hands to feed herself solid foods. Since losing that ability, she has had to be spoon-fed pureed foods. She does have a feeding tube for supplemental nutrition and hydration."

The good news, Deanna said, is that Rett syndrome is known to be caused by a mutation in only one gene, and the syndrome has been cured in mice.

"It is a progressive disorder, but is not degenerative, meaning brain cells are not dying, and there is hope even for older individuals if curative approaches can be translated to humans," she noted. "There are currently gene therapy clinical trials underway for Rett syndrome, and several other potentially curative genetic medicine approaches are being pursued."

Zoey was diagnosed with Rett syndrome when she was 21 months old, although she had developmental delays prior to that age. By 14 months, she wasn't crawling or speaking, and after a misdiagnosis of autism, genetic testing confirmed Rett syndrome.

The Adair family also includes Deanna's husband, Matt; their 6-year-old son, Zayden; and their 14-year-old dog, Koa. The family lives in Elizabethtown, where Zoey will be a fifth-grader at Bear Creek Elementary School this fall.

"Parenting a child with a disability has been one of our greatest challenges, but we want nothing but the best for Zoey and wouldn't trade her for the world," Deanna said. "Although I work full time, I could also make a full-time job out of making phone calls and filling out paperwork regarding her care. I set up appointments with many specialists and therapists; attend IEP meetings; and make many calls to insurance companies, medical supply companies, nursing agencies, county agencies, etc. We also co-chair a fundraiser in Philadelphia for Rett syndrome research, which is a lot of work, but we will stop at nothing to help Zoey have a better future if a cure can be found."

As a physical therapist, Deanna made a career change shortly after Zoey's diagnosis, moving from treating adults in an outpatient orthopedic setting to being a pediatric physical therapist at Schreiber Center for Pediatric Development in Lancaster.

Zoey has attended Schreiber for 10 years, beginning with physical therapy well before her official diagnosis. She has received speech therapy and occupational therapy at Schreiber for years, and she currently attends Camp Schreiber in the summer.

Deanna emphasized that Rett syndrome is just one part of Zoey, not all that she is. Events such as Disability Pride Month provide opportunities to raise awareness, she said.

"Disability Pride Month is important to our family because unless a person knows someone with a disability, they are often unaware of the multitude of conditions that a person can be diagnosed with," she said. "We like to bring awareness to Rett syndrome and other rare diseases and disabilities. If the public is more familiar with these conditions, I feel that they are more likely to include individuals with disabilities in their activities and consider ways to make places and activities more accessible to them."

That sense of inclusion is important, she noted.

"One thing that I would like the public to know about people with disabilities, especially children, is that while they are different from others in many ways, they are the same in that they just want to be included and have fun," Deanna remarked. "They want to be spoken to and treated like any other child. Most individuals with disabilities and their families would rather people say hi and ask questions than try to avoid them."

She also emphasized that the family isn't looking for pity.

"We don't want to be pitied for having a child with a disability," she commented. "We would take Rett syndrome away in a heartbeat to make things easier for Zoey, but she can still have a good life despite Rett syndrome."

For more information on Rett syndrome, visit https://reverserett.org.