Country legend Clint Black has triple platinum albums, more than a dozen number-one hits and several major awards, but on a personal level, he is also an uncle who lost his niece to a rare disorder. It's likely you've never heard of the medical condition that took 16-year-old Cortney's life, and Clint wants that to change.
Clint's family lost Cortney to Rett syndrome, a neurodevelopmental disorder that almost only affects girls. The syndrome is characterized by normal early growth, followed by a slowing or missing of development milestones, loss of directed hand movements, slowed brain and head growth, problems with walking, seizures and intellectual disability.
The behaviors that Rett syndrome children exhibit can often bewilder their families. "It's as if some alien being has come in and destroyed this person, ravaging them still every day," Clint says. "It goes on and on and on. And the stress on the family is tremendous."
Caused by a gene mutation, there is currently no known cure for Rett syndrome.
Clint, who now serves as the honorary chairperson for the Research to Reality campaign for the International Rett Syndrome Foundation, has raised more than a million dollars for research into the disorder. In an important advance, Clint explains that researchers have been able to identify the gene that causes Rett syndrome.
"There's hope. There's hope for a cure and a reversal," he says.
• For more information about Rett syndrome, please visit the International Rett Syndrome Foundation.
Four stages of Rett syndrome:
Stage I: Early onset
• Typically begins between 6 to 18 months of age
• The syndrome is often overlooked at this stage because the symptoms may be vague.
• Child may exhibit decreased eye contact and less interest in toys.
• There may be delays in gross motor skills, such as sitting or crawling.
• Hand-wringing and decreased head growth may occur.
Stage II: Rapid destructive
• Usually begins between ages 1 and 4 and may last for weeks or months.
• The onset could be rapid or gradual, as the child loses purposeful hand skills and spoken language.
• Characteristic hand movements such as wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouth, often begin during this stage.
• Breathing irregularities, such as episodes of apnea and hyperventilation, may occur.
• Walking may be unsteady and initiating motor movements can be difficult.
• Girls may display autistic-like symptoms, such as loss of social interaction and communication.
Stage III: Plateau/pseudo-stationary stage
• Usually occurs between 2 to 10 years
• Apraxia (an inability to execute purposeful movements), motor skill problems and seizures are prominent during this stage.
• Many remain in this stage for most of their lives.
Stage IV: Late motor deterioration stage
• Can last for years or decades
• Girls, who were previously able to walk, may stop.
• Cognition, communication and hand skills may stop declining.
• Repetitive hand movements may decrease and gaze may improve.
• Developmental regression or plateau
• Constant hand clasping or wringing
• Severe communication impairment
• Breathing problems
• Digestive issues
• Problems crawling
• Floppy arms or legs
• Shaky, unsteady gait, walking on toes
• Slowed head growth
• Abnormal sleep patterns
• Loss of social engagement
• Poor circulation, which can lead to cold or blue-colored arms and legs
• Loss of purposeful use of hands
• Loss of ability to speak
• Diminished eye contact
• Treatments require a team approach, including regular medical care; physical, occupational and speech therapy; academic, social and job training services.
• Medication can't cure Rett syndrome, but it can help to control seizures and muscle stiffness.
• Nutritional support