Rett Syndrome currently has no cure and one local family is struggling to understand this complex neurodevelopmental disorder that has affected their child.
Elaina Donahue was a little over a year old when doctors confirmed that she had this rare genetic disorder that affects brain development, resulting in severe physical and cognitive impairments.
It was extremely hard on her mom and dad, Landon and Lexi Donahue, but it made her grandparents, Mary Whittle and Jay Hayes, want to learn more about this terrible disease and bring awareness to others.
“We knew something was wrong because she had missed a lot of milestones, like walking, talking and not gaining weight,” Whittle said. “We thought it might be autism but when we took her to see some doctors, they told us she had GI issues and was highly allergic to dairy. Then they did three different scopes and decided it was something even more serious. That’s when they sent us to a genetics doctor that did bloodwork and had it sent to the Mayo Clinic. After six weeks the clinic called us and said that it was Rett Syndrome and that she would have to always have fulltime care. They also told us that she would probably start having seizures by age three, which she just recently turned. The doctor described the stages as sporadic because it could be more serious in some children and different in others.”
Rett Syndrome predominantly occurs in females, and generally only one in 10,000 births.
It was first described by Austrian pediatrician Andreas Rett in 1966 and symptoms typically manifest between 6-18 months of age. These symptoms include developmental regression, loss of purposeful hand skills, impaired communication abilities, repetitive hand movements such as hand-wringing or clapping, breathing abnormalities, seizures, and motor abnormalities such as ataxia or apraxia.
“Rett Syndrome is a terrible disease that no one in our area has any idea about and we want to change that. We are heartbroken that Elaina will probably never talk or more than likely lose her ability to talk and so much more. A feeding tube is more than likely in the future and so many hospital stays and visits. Right now Oklahoma doesn’t even have a doctor who treats Rett’s, so we have to travel to Ft. Worth to see a doctor. She has numerous other doctors that she has to see in Oklahoma too. Rett’s is different every day. She could wake up tomorrow having seizures or not be able to ever walk again. This is why my husband, Jay Hayes, and I have set out on a mission to bring awareness to this disease and hopefully they can find a cure someday.”
Currently, there is no cure for Rett Syndrome. Treatment focuses on managing symptoms and providing supportive care to improve the individual’s quality of life. This may include physical therapy, occupational therapy, speech therapy, behavioral interventions, and medications to alleviate symptoms such as seizures or sleep disturbances.
“We are now planning a Rett Syndrome Awareness Walk/ 5K on Oct 5 at the Checotah Sports Complex. We hope to share more about Elaina’s journey and want to encourage the community to come out and support her.”
