As an infant, Selena Coleman's nimble fingers were excellent at picking scraps out of the carpet, earning her the nickname "Hoover" after the vacuum cleaner.
Sound off on the important issues at
At 10 months, she won a crawling competition at an Idaho Wal-Mart.
Now, at age 9, the third grader's body has been overcome by Rett syndrome - a rare and severe genetic disorder related to autism.
It strikes mostly girls and begins to show its effects in early childhood when a mutation of a single gene on the X chromosome prevents the development of normal speech and movement.
The Colemans are aware of only four others in Alaska with Rett syndrome. Throughout the world, however, there are 4,000 confirmed cases. Experts say there could be thousands more that have not been diagnosed.
Many of these are likely to be older women, born long before the gene was found.
Selena cannot walk on her own or speak. She eats through a feeding tube and goes to school in a wheelchair. She wears a brightly colored brace imprinted with rainbows and hearts on her right arm to control a natural tendency to place her hands in her mouth. She cannot be left unattended.
While her form of the disorder is more severe than some others, her family is determined to help their daughter live to the fullest.
"Rett took her body, but not her brain," said Karen Kostenko, Selena's grandmother, who often takes care of her.
A recent research breakthrough also has given renewed hope that the disorder might be curable. In mice that carry the same genetic defect as humans, scientists have been able to reverse symptoms.
Selena's parents, Wayne and Charity Coleman, are excited about the news, but they realize that a cure could be long in coming.
During a recent visit to the Coleman family home in the Mendenhall Valley, Selena, wearing a pink Sketchers T-shirt and with sandy blond hair pulled in a half-ponytail, sat on the couch and posed for the camera. Her mom described her as a flirt and a jokester.
When she gets excited, she laughs and moves toward whatever is making her happy. Selena also has friends who like to encourage her in various activities at Riverbend Elementary School, where she's in the third grade.
"It is pretty fun seeing her in the hallway. (Other kids) don't act like she has Rett syndrome," said her brother Logan, 11, who sported a T-shirt that read, "my sister is a witch."
Kids at Riverbend have learned how to include Selena, communicating through a low-tech mechanical device that enables her to answer yes and no questions.
"It is something that the kids at school can pull out of her backpack and use," Charity said.
Selena also relies on adult support at school, including one of two aides who are with her daily. The Colemans also have private therapists and a pediatrician, and use services provided by REACH, a Juneau disability advocacy organization.
Besides her schoolwork, Selena has a passion for game shows. She swims once a week and occasionally rides ponies, with assistance, at 4-H club events, her mom said.
It is a debilitating neurological disorder diagnosed almost exclusively in females.
It is the leading cause of severe genetically related impairment among girls and women.
Children with the disorder appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills.
Historically, 1 in 10,000 females were believed to be affected, but now the prevalence is thought to be much higher.
It is caused by mutations in the gene MECP2, located on the X chromosome.
Any expectant parent is at risk for having a child with Rett syndrome.
Source: Rett Syndrome Research Foundation
Early years and diagnosis
When Selena was about a year old, Charity and Wayne started getting the first hints that something was unusual about their daughter. She could stand up, but was losing muscle tone.
"By 18 months there was definitely something wrong," Karen said.
Besides getting weaker, the doctor noticed Selena's head was not growing very quickly and she had trouble sleeping - two classic Rett syndrome symptoms.
The family enrolled Selena in a REACH program for infants and began a series of tests that would help them find out what could be afflicting her. At the time, little was known about Rett syndrome.
The problem gene, known as MECP2, wasn't identified until 1990 by molecular biologist Adrian Bird. It wasn't until 1999 that scientists at the Baylor College of Medicine discovered that mutated forms of the gene cause Rett syndrome.
Recently, scientists have been able to cause substantial reversal of Rett syndrome symptoms in adult laboratory mice.
This was surprising for this kind of disorder, said Monica Coenraads, co-founder and director of research at Rett Syndrome Research Foundation, based in Cincinnati, Ohio.
Because Rett syndrome is a neurodevelopmental disorder, it was believed impossible to go back and repair damage to the brain. But the fact that adult mice can recover means their brain neurons are still intact.
The experiment cannot be duplicated in humans because the mice had been genetically engineered to induce and then relieve the syndrome's symptoms. The development is still seen as promising, however, because reversing symptoms in mice suggests that symptoms in humans are also reversible.
"It opens up a whole new world of possibilities," Coenraads said, with far-reaching implications for Parkinson's disease, autism, and even schizophrenia.
"The next steps are going to take a real concerted effort and lots of money, but now we really have hope and justification for exploring every avenue," she said.
Hard times, too
"I wouldn't want it to come across that it is a breeze (to have a family member with Rett syndrome)," Karen said. "This is a hard diagnosis."
Victims of Rett syndrome are left profoundly disabled and require help with almost every aspect of daily living. They can develop repetitive hand movements, irregular breathing, gastrointestinal issues, severe seizures, constipation, difficulty sleeping and extreme motor control problems.
Within a few years, Selena will likely have metal rods implanted to support her back because she is developing scoliosis.
She's already had three major surgeries, one of which was the installation of a feeding tube she must use daily to - as her family says - "pump in dinner." The tube was put in because Selena risked asphyxiating from vomit.
Last year, Selena suffered five bouts of pneumonia in just four months and she has occasional seizures.
"She is sicker than most kids," Karen said.
She is also growing, which means it will be more difficult to lift her and take care of her.
Going places takes more work, and there are always decisions to make about what to bring and what to leave behind, Charity said.
Yet Selena's condition has actually brought the family closer.
"It's normal for us," Wayne said. "We've never not done anything."
If this means taking turns being Selena's caretaker while the family is out doing something fun, that's what the family does, with Selena participating as much as she can.
Sharing their story
The Colemans wanted to share their story so that other families will receive a proper diagnosis.
"It's having a name. It's having hope," Charity said. "Also, the sense of community that you know other people are going through the same experience."
"I think it gives everybody peace of mind to know what their family member has. Information, knowledge is power," Coenraads said.
"There is so much research going on right now that could potentially in the future help provide drug treatment, but first you need the diagnosis," Coenraads said.
Knowledge is also power at school, where some administrators might not be as supportive as Selena's.
"It is proof to the schools that your children can learn," Charity said. "Every kid has a right to be heard and understood."
Because Rett syndrome is a neurological disorder and not a degenerative brain disease, children born with it can live long lives.
Karen corresponds with an Australian woman with Rett syndrome who has finished college and now teaches disability awareness classes. Her friend e-mails and writes lesson plans using a mouth pointer, she said.
"I expect each of my children to do their best," Charity said. "We have expectations of her. She knows that."
Brittany Retherford can be reached at firstname.lastname@example.org.
© 2017. All Rights Reserved. | Contact Us