From the New York Times, the Wall Street Journal‘s health blog, Associated Press:

A federal judge in New Jersey has ordered a drug developer to supply an experimental drug to a 16-year-old with Duchenne muscular dystrophy, even though the company says the boy is not an appropriate candidate for the drug.

The family of Jacob Gunvalson had argued that they had been misled by officials at PTC Therapeutics into believing that their son would be allowed to take part in a clinical trial. Cheri Gunvalson, Jacob’s mother, said she helped the company obtain federal grants to research the disease.

The company denied that promises had been made, and said that allowing Jacob Gunvalson access to the drug could impede research and harm the drug’s chances of getting FDA approval. The company said it plans to appeal the ruling by U.S. District Judge William J. Martini.

Earlier post here.

From the New York Times:

A lawsuit recently filed in federal court exposes the increasingly blurry boundary between medical research and treatments that patients and their families hope will save lives. Cheri Gunvalson of Minnesota is suing a biotechnology company for access to an experimental drug she says could help her 16-year-old son, who has Duchenne muscular dystrophy.

She claims that she advocated on behalf of PTC Therapeutics, and that executives of the company repeatedly assured her that her son would get the drug. The company denies making such promises and says her son does not qualify for clinical trials.

Ms. Gunvalson is being represented by one of Minnesota’s most prominent lawyers, Michael A. Hatch, the former state attorney general.

Christine Rosen, writing in the Wall Street Journal, memorializes Harriet McBryde Johnson as someone who made society look at disability as a natural part of the human experience. Johnson, she says, demonstrated that disability transcends the convenient categories that often stymie political discourse: secular or religious, liberal or conservative. Johnson held up a mirror to a society whose acceptance of disability wanes as its scientific powers to eliminate disability grow.

As an example, Rosen cites the “rapid near-disappearance of people with Down syndrome.”

As a culture, we have made what Amy Laura Hall of Duke University Divinity School calls a “democratic calculus of worth” regarding Down Syndrome. And that calculus has resulted in a society hostile to people who refuse to make the culturally acceptable choice of ridding themselves of a disabled child before she is born.

… if choice and prevention produce a culture that equates disability with irresponsible parenting decisions, then the homage we pay to accommodation will prove hollow indeed. And as the population ages, and more Americans find themselves living with disabilities, questions about worth at the end of life will become even more pressing. Thanks to people such as Harriet Johnson, we have not yet reached the point where accommodation has given way to neglect or elimination. But we would do well to respect what Ms. Johnson’s own life so ably demonstrated: People with disabilities, she said, “have something the world needs.”

Christine Rosen is senior editor of The New Atlantis: A Journal of Technology & Society, and the author of Preaching Eugenics: Religious Leaders and the American Eugenics Movement.

Drew national attention for her opposition to ‘the charity mentality.’

From the Charleston [S.C.] Post and Courier:

Harriet McBryde Johnson, a tenacious, well-known Charleston disability and civil rights attorney, died suddenly Wednesday. She was 50.

South Carolina Supreme Court Chief Justice Jean Toal said Johnson was a fierce advocate for the disabled, a nationally revered attorney and a titanic figure in state legal history.

Johnson was perhaps best known for her 2003 New York Times Magazine cover story “Unspeakable Conversations.” The first-person piece described her journey to Princeton University to debate ethicist Peter Singer over his advocacy for the legalization of selective infanticide of children with disabilities. The cover of the magazine carried a photo of Johnson in her power wheelchair with the headline “Should I have been killed at birth?”

He insists he doesn’t want to kill me. He simply thinks it would have been better, all things considered, to have given my parents the option of killing the baby I once was, and to let other parents kill similar babies as they come along and thereby avoid the suffering that comes with lives like mine and satisfy the reasonable preferences of parents for a different kind of child. It has nothing to do with me. I should not feel threatened.

Whenever I try to wrap my head around his tight string of syllogisms, my brain gets so fried it’s . . . almost fun. Mercy! It’s like ”Alice in Wonderland.”

Johnson also drew national attention for her opposition to “the charity mentality” and “pity-based tactics” of the annual Lewis muscular dystrophy telethon. She protested the telethon for nearly 20 years.

She was the author of the unconventional memoir Too Late to Die Young: Nearly True Tales from a Life, a wry exploration of her life in “Cripworld,” and the young adult novel Accidents of Nature, about teens at a summer camp for children with disabilities in the 1970s.

Johnson, who had a congenital neuromuscular disorder, ran a solo law practice in Charleston.

News and Courier profile of Harriet McBryde Johnson is here.

Profile from New Mobility is here.

Late addition: June 7, 2008, obituary from the New York Times is here.

By the Associated Press in the New York Times:

Summer camps just for kids with chronic diseases are booming — places to learn about epilepsy or finally meet someone else with Tourette’s tics or slice open a cow’s heart to see what’s wrong with their own.

Now fledgling research suggests such special camps may offer more than a rite of passage these children otherwise would miss: They just might have a lasting therapeutic value.

… ”How do you live well with a chronic condition? I believe in part, the power of being amongst your peers normalizes the experience,” explains Sandra Cushner-Weinstein, a social worker at Children’s National Medical Center who founded the hospital’s weeklong camps for five illnesses, and is studying the impact on campers.

Failure to help the ‘lost boys’

From the New York Times, with video:

After more than four decades of Jerry Lewis telethons that raised many millions of dollars in search of a “cure,” the prospects for people with Duchenne muscular dystrophy are still bleak. Thousands of boys are still paralyzed by this muscle-wasting condition, and many do not live past their 20s.

It is a stark reminder of how American medicine – with its focus on breakthrough treatments – can sometimes fail a complex, rare and stubbornly uncurable disease. Single-minded in their pursuit of a cure, doctors and researchers for years all but ignored the necessary and unglamorous work of managing Duchenne (pronounced doo-SHEN) as a chronic condition.

(more…)

From Canada.com:

Sixteen-year-old Joe Parsons of Searcy, Arkansas, won a Saskatchewan elk hunt when his mother applied to Hunt of a Lifetime, a non-profit organization that grants hunting and fishing wishes for children with life threatening illnesses. Joe has Duchenne muscular dystrophy.

Joe’s three-day hunt, which begins today, will be at a game preserve, increasing his odds of bagging a big one.

Joe’s wheelchair is outfitted with a battery-operated rifle mount that moves side to side or up and down so he can get a bead on his game.

Since Joe’s arms have limited mobility, a straw-like tube attaches to the trigger mechanism, so when he’s ready to fire, all he does is sip on the straw to pull the trigger.