It has premiered in Hollywood, England and tonight, Ball State University alumna Kathy Elder's documentary finally arrives in Muncie.
After seven years of research and 70 hours of filming, producer and co-editors/directors Kathy Elder and Greg Mishey will debut their documentary "Living with Fragile X" at 9 p.m. on WIPB-TV.
"I was super excited to see that it was going to be on a Ball State station, having gone there and studied there; I feel that's where it all began for me," she said. "It's what I studied in college and the only thing I've done since [TV and video production]."
The documentary, which premiered Aug. 30, has had 125 air dates around the country. Elder and Mishey's documentary chronicles the lives of several California families affected by Fragile X syndrome, an X-chromosome-linked genetic disorder, which is the leading cause of inherited mental retardation and a known cause of autism in children and adults.
Elder said she was surprised the families were so willing to participate in the project.
"I think everybody was so excited that somebody wanted to tell the story of Fragile X and get the word out there that they were willing to kind of bare their soul and be honest about it all," she said.
Claudia Burrows, a Muncie resident, did not want to test her unborn child for the mutation.
"I already knew what raising a child [with Fragile X] was like; abortion was never an option after I found out I was pregnant," she said.
Burrows also has amyotrophic lateral sclerosis (ALS), or "Lou Gehrig's Disease," which is a progressive neurodegenerative disease, according to the ALS Association Web site.
"Her situation is really unique," Elder said. "Most of the parents I've met, anyway, don't have their own disabilities to contend with."
The progression of Lou Gehrig's Disease causes slurred speech and requires Burrow to communicate by typing on a computer.
Each of Burrow's children has a different effect from Fragile X.
"My daughter has a master's degree in English and teaches at the university level," Burrow's computer said as she typed.
"She has problems with anxiety, but otherwise is a normal 24-year-old," she said.
Burrow's sons, Phillip, 22, and Christopher, 12, both have autism, but even with the same diagnosis, they have different effects.
"Phillip cannot be touched," said the robotic voice of the computer, speaking for Burrow. "Christopher craves touch; Christopher is more social in general."
The gene for Fragile X was passed down from Burrow's father. Her sister is also a carrier but does not have any children.
Burrow's slurred speech and progression of Lou Gehrig's forced her to quit her job as a flight paramedic for emergency medical services; Christopher has multiple pictures in his room of his mother beside the helicopter she once worked on.
"I've seen a lot of families with perfect kids have their lives torn apart in an instant by a car crash. No one is guaranteed perfection," she said. "When we look for the gift in the people who are different, we are the ones who get the gift."
What is Fragile X?
The mutated Fragile X gene was discovered in 1991 and is still considered a new disorder.
This change or mutation of the FMR1 gene on the X chromosome affects a variety of physical and behavioral characteristics, causing such traits as enlarged ears, a long face with a prominent chin, attention deficit disorders, speech disturbances and poor eye contact, according to The National Fragile X Foundation.
These effects strike men more than women because women with the mutated gene have another X chromosome that can often serve as a "backup." Women tend to have a milder intellectual disability and milder presentation of behavioral or physical characteristics, and only a third have significant intellectual disabilities.
"It's not like a tragedy ... people aren't suffering and in many cases lead really full lives," Elder said.
Because Fragile X manifests itself in many different ways and causes a wide range of problems, Elder said it is hard for doctors to identify a list of symptoms.
"Experts believe there are so many kids out there who probably have Fragile X and their parents don't know it because they have a diagnosis of autism or some other mental developmental disability. If only they knew that it was caused by Fragile X then maybe they can get help ... that's more targeted to kids with Fragile X," she said.
Fragile X carriers, who can pass the mutated gene onto their children, can also experience different effects. Some women will experience early menopause and some older adults may develop fragile X-associated tremor/ataxia syndrome, or FXTAS, a neurological condition which can be mistaken for Parkinson's disease.
About 1 in 2,000 men and 1 in 4,000 women have the full mutation. The premutation occurs in approximately 1 in 250 women and 1 in 700 men, according to The National Fragile X Foundation.
Elder began searching for a "creative outlet" after working in the corporate video production industry. She wanted complete control of subject matter and was interested in documentaries.
Her family inspired her to spread the knowledge of Fragile X.
"The twins that you see in the documentary ... Connor and Ryan are my cousins and that's how I got interested in the topic - knowing that they had it, and how it impacted them, and how in spite of everything they are two of the happiest, coolest people I know."
Connor and Ryan were diagnosed with mental retardation when they were young but were not tested for Fragile X until they were 14 years old, the year the gene was discovered and people could be tested for it, Elder said.
A blood test can determine whether or not a person has Fragile X or is a carrier. Prenatal testing is also available to determine if the fetus has inherited the mutated gene.
How the gene is passed on
Females (XX) can pass the Fragile X chromosome to either their daughters or sons. Each child has a 50 percent chance of inheriting from their mother, if she is a carrier, since she will provide only one of her two X chromosomes.
Males (XY) cannot pass the Fragile X mutation to their sons, since they only provide a Y chromosome to their male children. However, males with Fragile X syndrome will pass the gene to their daughters, because males pass their X chromosome to all of their female children.
Statistics
-The documentary has aired 125 times around the country, which started Aug. 30.
- It took Elder 7 years to research the topic.
- Elder spent 70 hours filming.
- Fragile X was discovered in 1991. However, it is still considered a new disorder.
- 1 in 2,000 men have the full mutation, while 1 in 4,000 women have the full mutation.
- 1 in 700 men and 1 in 250 women have premutation.
- The documentary airs at 9 p.m. on WIPB-TV.
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