When Avery was born, it didn’t take long for her parents to realize that there was something different about her. She was not moving as much as most babies do, and at her four month check-up, she was not able to hold her head up. Her doctors recommended a visit to the neurologist. You can read the original article from fox10tv.com here.
It was clear that Avery had poor muscle tone, and as a result, she could not crawl until she was five years old. Tests ruled out cerebral palsy, multiple sclerosis, and other similar conditions.
Now, at age ten, Avery still cannot walk or talk. However, she is still engaged with her surroundings and has a network of support so that she is able enjoy her life and grow. While her condition was more or less unknown to most doctors, new research has revealed a genetic mutation as the cause for Avery’s state of being.
Because of the her lack of muscle tone, Avery has been doing physical therapy since she was five months old. Even gaining the strength to roll over took years of therapy.
Research revealed that the girl has a mutation on a gene known as CACNA1A. This gene is responsible for a channel that transports calcium, which is essential to the function of the brain and nervous system. In Avery’s body, this channel allows calcium to flow much more heavily than normal. Excess calcium can cause damage to nerves.
As a result of this discovery the girl now takes a calcium channel blocker. This should guarantee that her nerves will not sustain anymore damage, and there is chance that it could help her condition improve. However, in this never-before-seen case, the medical experts just don’t know.
This is the most important step in treating Avery’s condition so far. Although there is still no name for the ailment, the only way to begin solving a medical problem is to obtain a diagnosis so that doctors know what is wrong or abnormal.
The characteristics of the condition convinced Avery’s parents that public school would not be ideal for her. Instead, she has been attending the Arbor School. The school is meant for children with developmental disabilities up to age twelve. Avery’s mystery condition is the first of its kind, and many doctors believe that its possible that there are others with the condition that have simply been misdiagnosed.
