They met in Paris in 1997, two Americans from adjoining Southern states. Charlotte hailed from Baton Rouge, La., and worked as an interior designer importing antiques. Craig was from Little Rock, Ark., and worked for a Houston-based financial firm. They fell in love in one of the world's most romantic cities, only to find out later how truly rare their match was.

Their first child, Christiane, now 7, has one of the rarest, most devastating disorders on the planet: Batten disease. The neurodegenerative disorder, affecting about 750 to 800 U.S. children today, causes seizures and progressive loss of sight, motor skills and mental ability.

Named for British pediatrician Frederick Batten, who first described it in 1903, the disease has no treatment and is often fatal by the late teens or early 20s.

When they married in 2000, Craig and Charlotte Benson, who moved to Austin in 2002, didn't know they are both carriers of a mutated gene that causes the disease.

But after Christiane was diagnosed two years ago, they created a foundation that is helping pay for a new genetic test designed to tell people whether they have a mutation tied to Batten or hundreds of other rare disorders. And they are raising money for an even more ambitious goal: to find a cure for Christiane.

She is now legally blind.

"When the doctor said it was going to be getting darker, her first response was, 'Mom, maybe I will have to learn to walk with a stick.' That's when she was 5," her mother said.

Watching her romp with her black Lab, Queenie, and her cousin and little brother at home last month, no one would know Christiane has a medical condition.

"The worst is yet to come," Charlotte Benson said as her eyes glistened, "and that's a reality that makes you inhale every second with your child."

Simply waiting for her to worsen was not an option, Craig Benson said. Nor, he said, is failure.

Their younger child, Garland, 5, does not have Batten. The Bensons know two other Central Texas families affected by Batten; one has two children with the disease.

Craig Benson, 48, is CEO of Rules-Based Medicine Inc., an Austin company that develops and validates tests for proteins or molecules in the body that can indicate an abnormality.

When his family got Christiane's diagnosis from a doctor at Baylor College of Medicine in Houston in March 2008, Benson was in a unique position. Although his company doesn't do genetic testing, he was surrounded by experts who could brainstorm ideas about how to help Christiane.

Suddenly, he and his wife started to see the disease not as a horror to run from but as a destiny to try to embrace.

"We feel like we're being called to do something," Charlotte Benson, 45, said. "You begin to see life in a totally different perspective, without this horrible fate that's been assigned to you. You have a mission and a purpose."

The Bensons said that in their quest to help Christiane, they noticed synchronicity in their lives, starting with Craig's job at a company connected to genetics experts. What they asked for, they said, started coming to them.

"This has done nothing but strengthen our faith," Craig Benson said.

"And," Charlotte Benson chimed in, "brought us closer together."

Test for rare disorders

In August 2008, five months after Christiane was diagnosed, the Bensons created the Beyond Batten Disease Foundation to raise money for research. It soon had another mission.

Two friends and colleagues connected to Rules-Based Medicine — medical director Dr. Michael Spain and founder Mark Chandler, now chairman and CEO of Biophysical Corp., an Austin company that analyzes medical tests for health and wellness — brainstormed the idea of developing a test for Batten and a host of other rare disorders, ranging from cystic fibrosis (the most commonly occurring rare disease) to spinal muscular atrophy.

The U.S. Office of Rare Diseases says there are close to 7,000 rare disorders affecting about 25 million Americans. To be rare, fewer than 200,000 Americans must be affected.

Many are considered "orphan diseases" because too few people are affected for pharmaceutical companies to invest in creating drug therapies for them. And most are too expensive to test for individually. A test for a lone gene can cost hundreds to thousands of dollars.

Rarely do two people with the same uncommon mutation find each other, as the Bensons did. Even then, there is a 1 in 4 chance their child will have the disease.

Chandler, who is on the board of the National Center for Genome Resources, a nonprofit genetic research institute based in Santa Fe, N.M., called the center's CEO, Dr. Stephen Kingsmore, to see if his organization would be interested in producing the test.

"It just lit him up," Chandler said.

Their idea is that couples planning to have a child would get a blood test at a doctor's office or lab — later a cheek swab would replace blood, Kingsmore said — to screen for up to 600 disorders that have no cure and are among the most severe and medically devastating.

If both parents are shown to be carriers of the gene mutation, they would be advised to consider alternatives to ordinary childbirth, such as adoption or in vitro fertilization.

The foundation is in negotiations on where to locate a lab that would run the test.

The lab would be nonprofit, and the test would cost less than $500, Kingsmore said.

"It's a huge roll of the dice every time a baby is conceived," he said. "It's time we take that roll of the dice out of having a baby."

Kingsmore said he has dedicated virtually all of his time to seeing that the test is rolled out "early next year."

"Our goal is to eradicate these diseases," he said.

Quest to raise money

After forming the foundation, the Bensons hit the road, hosting cocktail parties and events where they could tell their story. They went to places where they had worked, lived and gone to school. They have raised $4 million with the help of friends and family.

Of that, $1 million has been dedicated to launching the test for rare disorders, but several million more is needed, Kingsmore said.

Craig Benson said the foundation is in negotiations with academic institutions and other states about providing that money — and hosting the testing lab.

Their test wouldn't be the first on the market.

Counsyl, a for-profit Redwood, Calif., company, tests saliva for about 100 rare disorders for $349. The company, which also accepts requests for financial aid, declined several requests for an interview.

Spain said that because the Batten foundation-sponsored testing program would be nonprofit, any proceeds would go to support Batten research, and the organization would not deny the test to anyone who couldn't afford it, Craig Benson said.

Whether insurance covers it depends on a person's health plan, but that could change under the health care plan President Barack Obama signed, Spain said.

Marsha Lanes, a genetic counselor at the National Organization for Rare Disorders, called the idea intriguing and said she sees its potential to reduce and perhaps one day eradicate some diseases. But she had concerns, including how the test results would be validated.

Lanes said she's also concerned about oversight because tests developed that way do not require Food and Drug Administration approval. The lab itself, however, must be certified by the Centers for Medicare and Medicaid Services.

The FDA said in a written statement that it is concerned about the "proliferation of laboratories offering tests without FDA oversight and some of those tests are increasingly complex. FDA has not announced plans to regulate the tests but is closely monitoring the industry."

Spain said the test would be continually validated by sending in samples from patients known to have a genetic disorder — unbeknownst to lab personnel — to ensure that lab technicians are finding the abnormalities.

Sustained by hope

Meanwhile, the Bensons are pushing forward to find a cure for their daughter. They realize the difficulty of that, but they have hope.

Last year, they asked to meet with the director of Baylor's Jan and Dan Duncan Neurological Research Institute, Dr. Huda Zoghbi, hoping to interest her in Batten disease.

The day before their visit, Dr. Andrea Ballabio — a former colleague of Zoghbi's at Baylor — arrived from Italy. He told Zoghbi that he and his team at the Telethon Institute of Genetics and Medicine in Naples, which does genetics research, had made a major discovery involving a genetic protein that helps clear clogged cells. They needed a lab to quickly apply the discovery to a neurological disease. Batten is caused by a buildup of proteins and fats in various cells.

Zoghbi said she had planned to tell the Bensons she couldn't help. But after Ballabio's visit, she suddenly had good news.

"It was a great opportunity to test this out in the case of Batten," Zoghbi said.

"It was quite a serendipity," Craig Benson said.

The Bensons dedicated $2.5 million from the foundation to get the lab started at Baylor, and Ballabio's colleague, Dr. Marco Sardiello, has moved there. He is pursing the work on Batten in a quest that could lead to a treatment or a cure — a process that takes years, Zoghbi said.

"The fact is, there really is hope," Craig Benson says in a video on the foundation's website, "\u2026 and we're part of it."

That carries them along, Charlotte Benson says in the same video, because Batten is "something that we live with every moment of every day. We can choose to drown ourselves in self-pity, or we can choose to do something to try to make a difference, and that gives us hope."

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