All but 5 of 41 cast members have developmental disabilities, but each one feels ‘Footloose’

An intimate and perceptive piece by Drew Jubera in the Atlanta Journal Constitution about a local theater production starring people with intellectual disabilities.

Some quotes to ponder:

“I’m a bagger by morning, an actor at night.” Katie Rouille, 27

“A lot of people say I can’t do something, and I just say I can. I’m determined that way.” Cynthia Outman, 31, who has Down syndrome

“I do it for the same reason real actors do it: to get away from who I am and be someone else. It’s challenging every day to do things. But this shows people with disabilities ‘you can do it.’ Linda Danzig, 57

“These are the people behind the bakery counter in Publix or bagging your groceries who you may not have noticed until they came here and are under the lights. It does for them what theater does for anybody. The shy checkout girl who takes a theater class and finds her voice.” Kim Goodfriend, the theater’s founding producer

“There are more similarities than differences. Every actor is sensitive. They’re ripping their chest cavity open and exposing themselves to failure. ” Dina Shadwell, the theater’s director

From Reuters:

Genetic engineering can correct the worst symptoms in mice with Fragile X syndrome, the most common inherited cause of mental retardation and autism, U.S. researchers reported in the journal Neuron.

They said it is possible a drug could do the same thing, perhaps providing a treatment for Fragile X syndrome and other causes of retardation and autism, too.

Fragile X causes seizures, impaired memory, learning disabilities, hyperactivity, severe mental retardation and accelerated body growth. It affects 90,000 to 100,000 Americans. There is no treatment.

The mutation in mice was created by investigator Mark Bear at the Massachusetts Institute of Technology.

Related links:

Gene therapy ‘corrects Fragile X’ — BBC

A fix for one type of autism — Time Magazine

Gene tinkering cures autism symptoms in mice; Pill in the pipeline could have same effect in people, scientists say — MSNBC

From Newsday, a feature about musical performer Brittany Maier, who has autism, a vision impairment and a brain impairment. Brittany can play hundreds of songs on the piano, and has two albums out as well as several original songs. Her mother says she is a savant.

From the Boston Globe, Wellesley Townsman:

A new book by Clare Dunsford, associate dean of the College of Arts and Sciences of Boston College, chronicles her life raising a son with Fragile X syndrome.

Dunsford uses poetry and candor to document a condition the world knows little about by inviting the reader into snapshots of the disability that has been woven throughout the fabric of her life — from coming to terms with her role as a carrier to the poetic retelling of the roller coaster that is life with her son.

The book’s website is here.

From the BBC:

A team from Emory University is reporting early success in using drugs to reverse the effects of Fragile X syndrome in brain cells taken from rats. The study appears in Proceedings of the National Academy of Sciences. Fragile X is said to be the most common cause of inherited learning difficulties.

An earlier story about the Emory program of research and clinical care of Fragile X appears here.

Photo from American Journal of Human Genetics.

From the (UK) Times and the (UK) Guardian.

A new computer system designed by British scientists promises to revolutionize the diagnosis of genetic conditions by using three-dimensional photography to map children’s faces.

The software, developed by Peter Hammond, of the Institute of Child Health, at University College London, can already diagnose more than ten genetic disorders in children with more than 90 per cent accuracy, and it is being fine-tuned to detect more than 20 others. The intention is to provide clinical geneticists with a powerful new tool for screening children with unexplained medical conditions, highlighting potential genetic syndromes that can then be confirmed with molecular tests.

Advantages from the new technology, according to scientists: it could be cheaper than conventional genetic testing, and it could allow children to get treatment earlier.

The British research, published today, is also expected to allow doctors to screen children as young as two years old for autism disorders, such as Asperger’s, boosting their chances of receiving appropriate care and treatment as early as possible.

How the WWE tried to protect its image by exploiting our prejudices

In the era of celebrity-driven philanthropy, it just might have been a non-profit’s worst nightmare. A celebrity does something ghastly, and surprise! Somebody blames the people you’re trying to help.

That’s what happened in the world of Fragile X last week when World Wrestling Entertainment tried to deflect blame for the apparent murder/suicide of wrestler Chris Benoit and his family.

Brushing aside questions about illegal steroid use, the WWE put out the word that Benoit’s 7-year-old son Daniel had Fragile X syndrome – an account that family members now dispute — and that his disability was a constant source of tension for Benoit and his wife.

Faster than you can say eugenics, speculation about Benoit’s anguish over the boy’s “suffering” swept the airwaves and the internet, eliciting sympathy and temporarily blotting out the “roid rage” theories. Who among us can judge, wrestling fans asked one other. Perhaps dealing with a chromosomal anomaly was just too much stress. Perhaps Daniel was a “burden;” perhaps he was hopeless.

Let me add my own theories to the mounting pile. Perhaps the publicly-traded WWE was engaging in damage control. Reasoning that fans would be repelled by the specter of a celebrity turned murderer, perhaps they were banking on the hope that many might perceive a utilitarian logic in ending the life of a child with a disability. Judging by the number of Google hits that now connect Benoit’s name with the term “mercy killing,” the WWE may not have underestimated the public sense of justice.

Whether Daniel Benoit did or didn’t have Fragile X is not our business – or the WWE’s. What we should be concerned about instead is the WWE’s cynical effort to shift blame to an innocent and voiceless young boy, in effect victimizing him a second time.

In so doing, the WWE also sent hurtful messages about the many thousands of people who are living productive, satisfying and dignified lives with Fragile X syndrome, and about their families. To suggest that their lives are fraught with despair is both inaccurate and demeaning, and fuels public stigma against them.

Far from being a rare medical condition as it was described in media reports, Fragile X syndrome is shared by between 70,000 and 100,000 people in the U.S. according to the National Fragile X Foundation. If all the people who are carriers are included in that estimate – an estimated 1 in 130 women and 1 in 700 men — the number rises to more than a million. The disorder gets its name from the long tail of the X chromosome.

While Fragile X syndrome is the most common inherited cause of mental impairment, better education and early intervention services have greatly improved prospects from what they were a generation ago. Experts say many young adults with Fragile X are now holding jobs and living independently or semi-independently, and that the trend will continue to grow.

We may not be aware of it, but it’s very likely that some of these people are among our neighbors and friends. If we are really worried about alleviating their “suffering,” then perhaps we should turn our attention to broadening the availability of accurate diagnosis and intervention services, and stepping up research into treatments.

I’ve often wondered why the public is so quick to swallow unproven assertions that families of people with disabilities are dysfunctional, and that disability in a family causes it to become violent.

Perhaps it’s a failure of imagination. If we haven’t lived with a person with a disability, we don’t know what to expect. As with raising any child, raising a child with a disability brings many aggravations as well as joys.

Studies have shown that families with disabled children report they fare no better or worse than others, and often rate themselves higher in personal satisfaction than other families. Many of them say what’s stressful is less their child’s diagnosis than the public stigma attached to disability.

Our family cherishes the friendship of a young man, also named Daniel, who has Fragile X syndrome. We greatly value his kindness, charm, sense of humor and taste in television shows (which runs heavily to reruns of “West Wing”). Supervisors in the gourmet shop where he has been working are much impressed by his enthusiasm and easy way of relating with the customers. Our Daniel has friends, a supportive family and a very active social calendar. He enjoys his life.

I only wish that Daniel Benoit might have been so lucky.

For more information, visit the National Fragile X Foundation or the Fragile X Research Foundation.