Twins take on cystic fibrosis

From Reuters:

LOS ANGELES – When identical twins Anabel Stenzel and Isabel Stenzel Byrnes were born with cystic fibrosis in 1972, they were not expected to live to adulthood.

Three decades — and three lung transplants later — they are telling their story in “The Power of Two.”

While theirs is a story about nurturing hope in the face of impossible odds, the book is also an honest account of the upheaval that serious illness inflicts on even the most devoted and well-intentioned families.

… The women now hike, bike, blog and, in Isa’s case, play bagpipes. (more…)

From the Casper [Wyoming] Star-Tribune:

People with disabilities are lobbying the Wyoming legislature this week to eliminate the term “mentally retarded” from state statutes and other official documents and replace it with “intellectualy disabled” or some other more compassionate phrase.

What’s different about this latest push to update the terminology is that people with disabilities are leading the charge, said Doreen Crowser, executive director of the American Association of Intellectual and Developmental Disabilities.

Crowser’s own group, a professional association that supports people with developmental disabilities, last year changed its name from the American Association of Mental Retardation.

“It’s people with disabilities that have really taken a leadership on this,” Crowser said. “They really dislike the mental retardation terminology.”

See earlier post.

From the Dallas Morning News:

For people living with diabetes, multiple sclerosis and other chronic conditions, blogs are increasingly providing support and information. Experts say blogging can be a useful tool for grappling with medical conditions and building connections with other people with shared experiences. At the same time, caution is urged: not all information out there is good information, and posters’ privacy can’t be assured.

From the New York Times:

Columnist Jane E. Brody interviews Josh Swiller, author of “The Unheard,” about his decision three years ago to get a cochlear implant. Swiller, who had been profoundly deaf, describes the experience as life-changing. With the implant, his hearing went from 25 percent to 100 percent.

“The implant opened up a whole new world for me,” a world that now includes a normal-hearing girlfriend who mumbles, Swiller said, laughing … “My hearing is so many light-years better than I ever could have imagined – it’s a miracle.”

… Some deaf people are opposed to cochlear implants, because they regard the world of the deaf as a community, which they believe that implants threaten. They also point out that the devices are still being perfected.

Nonetheless, Swiller says based on his experience, “a small child with severe hearing loss should be implanted as soon as possible. Sign language can be learned down the road, but not English. It’s a no-brainer to me if you want the child to succeed in a hearing world.”

Swiller’s deafness is caused by an inherited autosomal recessive mutation in a gene called connexion 26, the most common cause of sensorineural deafness in children. He shares the condition with his brother and a first cousin.

From Wired, a major feature on Amanda Baggs. An excerpt:

Baggs is part of an increasingly visible and highly networked community of autistics. Over the past decade, this group has benefited enormously from the Internet as well as innovations like type-to-speech software. Baggs may never have considered herself trapped in her own world, but thanks to technology, she can communicate with the same speed and specificity as someone using spoken language.

Autistics like Baggs are now leading a nascent civil rights movement … This movement is being fueled by a small but growing cadre of neuropsychological researchers who are taking a fresh look at the nature of autism itself.

The condition, they say, shouldn’t be thought of as a disease to be eradicated. It may be that the autistic brain is not defective but simply different – an example of the variety of human development. These researchers assert that the focus on finding a cure for autism – the disease model – has kept science from asking fundamental questions about how autistic brains function.

(more…)

From Forbes:

San Diego-based Sequenom saw its share price rise sharply after the company forecast a strong rise in 2008 revenue and announced plans to launch a noninvasive genetic test for Down syndrome in the first half of 2009. Shares rose 27 cents, or 3.6 percent, to $7.96 in midday trading.

Oppenheimer & Co. analyst Kevin DeGeeter said in a note to investors Thursday that the proposed launch date beat his prior estimate for the second half of 2009. He kept the shares at “Outperform” with a price target of $15.

“Our upbeat outlook for Sequenom is based on the potential launch of new high-margin diagnostics supporting sustained profitability by the second half of 2009,” DeGeeter said.

In addition, several analysts expressed enthusiasm over the company’s plan to increase investment in its prenatal diagnostics research and genetic analysis business.

Earlier posts start here.

From Adweek, New York Daily News:

Home improvement company Lowe’s decided not to advertise on future episodes of ‘Big Brother 9′ because of a defamatory comment a contestant made about people with autism.

On the episode, which aired Feb. 13, Adam Janinski said he hoped to win the competition so he could open a hair salon “so retards can get it together and get their hair done.”

… Lowe’s rep Karen Cobb said, “Once it was brought to our attention, we decided not to advertise [on Big Brother] further.”

A group called Autism United has called on sponsors to withdraw their support of the program.