Bridging the Continents in the Battle Against Batten Disease

A Study Started Half a World Away May be the First Step Toward a Cure

By Sandra Bretting in Shine, a magazine of Texas Children’s Hospital

Normally, when doctors deliver a diagnosis, their next words focus on a treatment or cure. But, what do you do when there is no cure and your child is the patient?

That scenario became real for the Herndon family of The Woodlands in June. During a visit to Texas Children’s Genetics Center, they learned their 6-year-old son is not suffering from a common eye ailment, like they had originally thought, but from a rare genetic disorder called Batten disease. That diagnosis sent their lives into a tailspin.

A Typical Texas Boy

As a toddler, Will loved nothing more than to play with his toy cars for hours on end. Although he didn’t learn to speak until he was 3, his parents weren’t too concerned. In every other way, he was a healthy, normal kindergarten student.

Until last fall, when his teacher noticed Will had begun to hold his schoolbook only inches from his face in order to read the words. She told the boy’s mother, Missy, that perhaps he needed glasses. Around the same time, Missy overheard Will ask his younger brother, who was 3 at the time, a seemingly innocent question.

“What color is this crayon?” Will asked his sibling. These events began a journey through multiple eye examinations and a growing fear that something was seriously wrong with their son.

“One day I told Will to be ‘patient,’ and he asked me what I meant,” Missy recalled. “Now, Will has heard me use that word a thousand times. I could tell there were gaps in his knowledge; whole blocks of information were missing.”

After taking Will for myriad eye examinations, the Herndons ended up in the office of Richard Alan Lewis, M.D., a genetic retinal specialist at Baylor College of Medicine. It was Lewis who suspected an underlying diagnosis and recommended the Herndons bring Will to Texas Children’s Genetics Center for testing.

“It was the week Will turned 6,” Missy said. “I’ll never forget that. Dr. Lewis thought it could be one of two genetic diseases. He didn’t want me to write them down because he didn’t want me to look them up and be upset.”

“Usually I’ll diagnose about one child a year with the disease,” Lewis said. “Ironically, I’ve seen four cases alone in the last two years. The interesting thing is that the infantile strains affect babies neurologically first, while the juvenile form, such as Will’s, presents as a fairly rapid deterioration of vision first.”

Battling a Deadly Disease

Batten disease is a genetic disorder that affects the body’s nervous system. Substances called lipopigments—fats and proteins—build up in the body’s tissues and these children’s cells aren’t able to break them down or recycle them.

There are three major variants: infantile, late infantile and juvenile. Will has the juvenile form, known professionally as juvenile neuronal ceroid liopofuscinosis (JNCL).

“When the results came back as Batten, we immediately said, ‘Okay, how do we fight this?’” Wayne, Will’s father, said. “And the answer was … you don’t. There’s no cure and limited research going on right now.”

Unwilling to accept a death sentence for his child, Wayne spent countless hours each night on the Internet, finding out everything he could about the disease. Fate—or divine intervention as the couple believes—brought the Herndons together with another Texas couple who were given a diagnosis of Batten disease by Lewis.

Charlotte and Craig Benson of Austin had already formed an organization called the Beyond Batten Disease Foundation that seeks to promote research into this little-known illness. The Benson’s 7-year-old daughter, Christiane, was diagnosed with Batten disease in 2008.

The Bensons donated $500,000 through their foundation to Texas Children’s Hospital. Coupled with a $2 million donation from close friends Cherie and James Flores, the gifts were used to bring Andrea Ballabio, M.D., and a colleague from Italy to America to conduct research into neurodegenerative diseases like Batten.

A Dedicated Scientist on the Hunt

Half a world away, Ballabio had already isolated the gene that controls cells’ ability to degrade and recycle toxic molecules. As scientific director for the Telethon Institute of Genetics and Medicine in Italy, Ballabio published his findings in the July 24, 2009, issue of Science magazine.

“We discovered a novel biological mechanism by which cells degrade and recycle toxic molecules,” Ballabio said. “We also found a way to enhance this mechanism to improve cellular clearance. We hope we can use this discovery to treat neurodegenerative diseases, such as Batten, which are caused by the accumulation of toxic molecules in neuronal cells.”

Along with his colleague—Marco Sardiello, Ph.D.—Ballabio will spend a year as a visiting scientist at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. He’s also a visiting professor in the department of molecular and human genetics at Baylor College of Medicine.

The neurological research institute, which is currently under construction in the Texas Medical Center, will open next year and aims to be the preeminent research facility for pediatric neurological disorders in the country, if not the world. The goal is to give scientists, like Ballabio and Sardiello, the tools and proximity to other scientists to make the most of their research.

“It is a wonderful gift to have Dr. Ballabio working with our team,” said Huda Zoghbi, M.D., director of the Jan and Dan Duncan Neurological Research Institute. “He’s a distinguished scientist whose research epitomizes the mission of this institute.”

The Rest of the Story

Throughout the coming year, Ballabio and his team will research ways to enhance the function of master genes that regulate the efficiency of how cells clear toxic molecules.

“We are working very hard towards the application of our discovery for the cure of Batten disease, as well as other neurodegenerative diseases,” Ballabio said. “We will need time, but we hope to be successful in this difficult task.”

“We could throw ourselves into self-pity, or we could work to help find a cure,” Missy said. Recently, she joined the Blue Bird Circle, which is a group of volunteers who work with the hospital’s pediatric neurology clinic. “At some point in time every disease was without a cure. Now, it feels like it’s all coming together. I believe in my heart that these children are going to make it into adulthood.”

A Mother’s Story

A Mother’s Story, by Charlotte Benson

As I stared out of the window on my flight from Baton Rouge to Austin, I prayed for my family and our future, and for Christiane’s healing.  I watched rays of sunlight angle down from above dashing horizontal shelves of clouds and refracting the light into a cascading effect.  Waterfalls, I thought.  God has created waterfalls of light in the clouds and I wondered why.

When I finished praying, I pulled the blind down and turned to Craig sitting next to me in the middle seat.  He had just finished reading the last pages of a book called The Shack.  I asked him if he liked it, and what was his favorite part.  He thumbed through the pages, said that it was all good, and that he wouldn’t know where to start.  Then he turned to a chapter in the book and handed it to me to read.

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Rare Disease Day – Retailer Support

In honor of Rare Disease Day on February 28th

The following retailers are donating a portion of their proceeds to the Beyond Batten Disease Foundation
Rare Disease Day

1379 Kids • 2727 Exposition Blvd. • 2/27
Austin Pilates Barn  • 1600 Northwood Road • 2/23 & 2/26
Bella Mi • 1601 W. 38th Street • 2/27
Bettysport • 916 W. 12th Street • 2/27
Feather Your Nest • 3500 Jefferson St. • 2/27
Hayden Avery • 1515 W. 35th Street • 2/26 & 2/27
Lee’s Meat Market • 1601 W. 38th Street • 2/26 & 2/27
Teo’s • 1206 W. 38th Street • 2/27 & 2/28

A Bientot •3268 Westheimer Road • 2/27
River Oaks Bookstore • 3270 Westheimer Road • 2/27
Thompson Hanson Home and Garden Shop • 3600 West Alabama • 2/27 & 2/28
Tiny Boxwood’s Café • 3614 West Alabama • 2/27 & 2/28

Westbank moms hit the road to battle Batten Disease

Three Austin-based runners help spread the word about Batten disease.

by Dane Anderson in Westlake Picayune

A small group of children across the world have been embroiled in battle for years, yet the majority of the population has never even heard of their fight.

Three Westbank moms have made it their mission to shed light on Batten Disease, an inherited and fatal neurodegenerative disease that appears in two to four babies out of every 100,000 live births in the United States. Symptoms typically manifest between the ages of 5 and 10, and it is often fatal by the late teens or early 20s.

“It’s just one of those things that just stops you in your tracks when you find out that a friend’s daughter has been diagnosed with this fatal disease that you’ve never even heard of,” said Jena Ehlinger.

Ehlinger first heard of the disease through friends Craig and Charlotte Benson, whose daughter was diagnosed with the condition. The Tarrytown couple founded the Beyond Batten Disease Foundation in August 2008 to raise funds and awareness about the disease and other similar genetic conditions.

Ehlinger, along with friends Kristyn Chambers and Jenni Rozas have committed to doing two half marathons a year to get the word out. They just completed their second at the San Antonio Rock and Roll Half Marathon earlier this month.

“It’s a disease that many people aren’t aware of and when children do get it, it’s just a horrible disease and a fatal disease,” Rozas said of what moved her to make the commitment. “It just touched my heart thinking that there is not very much information out there for people who do have it, not much support for research.”

They’ve been in training for most of 2009, having run their first half-marathon along with five other friends in April. They do a professional group run once a week, a long run with just the three of them once a week, and several shorter training runs, taking each one as an opportunity to spread awareness.

“It’s also been interesting to have people stop us when we’re in our running shirts and say, ‘What’s Battens?’ and be able to refer them to the (Beyond Batten) Web site,” Ehlinger said.

With the bevy of awareness and fundraising methods out there, Ehlinger said they picked running for the challenge.

“Because it’s so hard and because it kind of takes you out of your own comfort,” she said. “I can easily go run four or five miles but to go run 13.1 miles is really hard mentally, physically and also spiritually.”

And it’s thinking of the Bensons that makes it possible and makes it worth it.

“To be hurting and pushing yourself but then all of a sudden to think about her and what she’s going through and what her family’s going through and their incredible attitude and incredible faith – I think, if they can do that, I can push my body another eight miles or seven miles, easily.”

The runs have become a bonding experience for the friends, who have taken on specific rolls in the process.

Chambers pushes the group past walls with her strong and competitive nature; Rozas has become the “steady Eddie,” setting the pace with her unwavering commitment to training; and Ehlinger is the cheerleader, pumping her friends up or sending out a quiet prayer when needed.

To learn more about Batten Disease and how to help, visit

Click here to read more.

BBDF Awards largest research grant to study Juvenile Batten Disease

The Beyond Batten Disease Foundation awards the largest research grant ever made to study juvenile Batten Disease:

A recent $2.5 million gift to the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital has paved the way for noted Italian researcher Andrea Ballabio, M.D., to serve as visiting scientist at the institute for a year. Ballabio and his team conduct research into neurodegenerative disorders and lysosomal storage disorders, such as Batten disease.

The gift comes from Cherie and James C. Flores, who donated $2 million to the effort, and from the Beyond Batten Disease Foundation, which contributed $500,000. The foundation was established by Charlotte and Craig Benson, whose daughter, Christiane, was diagnosed with juvenile Batten disease in 2008.

Batten disease is a rare genetic disorder that attacks the nervous system. It was first documented nearly one hundred years ago, but research has been limited until now. There is no treatment and no cure. The earliest signs are subtle and often do not occur until a child is about 5 years old.

“It is heartbreaking to think that this disease will one day rob Christiane of her ability to see and walk and use her mind. And, eventually, it will take her from us, unless we act now,” Benson said.

“We have to believe that there’s an answer, and we are confident that there is hope for the future in terms of developing treatments for Batten disease,” he continued. “Texas Children’s Hospital is uniquely positioned to make progress against genetic disorders like Batten disease through facilitating collaborative research and recruiting world-renowned scientists like Dr. Ballabio and his associates.”

Ballabio has served on the molecular and human genetics faculty of Baylor College of Medicine. Currently, he is the scientific director of the Telethon Institute of Genetics and Medicine in Naples, Italy. He and his team recently discovered the gene that controls the body’s ability to degrade and recycle toxic molecules. The build-up of these molecules is the cause of numerous genetic disorders, including Batten disease, along with other neurodegenerative disorders such as Alzheimer’s, Parkinson’s and Huntington’s diseases.

“We have identified a ‘master’ gene that acts as a genetic switch,” Ballabio said. “By enhancing the function of this master gene, we can increase the clearance capacity of the cell and its ability to degrade toxic proteins. We believe this knowledge will help us develop better treatments and, ultimately, find a way to prevent these diseases.”

Phase one of Ballabio’s research at Texas Children’s began in July and is focused on the development of animal models for Batten disease and other disorders. Phase II, beginning next summer under the leadership of Ballabio’s research associate, Marco Sardiello, Ph.D., will investigate which drugs are able to promote activation of the master gene.

View Article Here. 

Renowned Italian Researcher Dr. Andrea Ballabio Joins Texas Children’s Hospital Neurological Research Institute As Visiting Scientist in Medical Genetics

published September 30, 2009

Team to Focus New Gene Discovery on Developing a Therapy for Batten Disease

Dr. Andrea Ballabio, scientific director of the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy, has joined the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine as a visiting scientist for one year. During that time, Dr. Ballabio’s research project will be based on his discovery of a gene that controls the ability of the cell to degrade and recycle toxic molecules, which was recently published in the journal Science. In particular, his team will focus on testing the application of his discovery for the therapy of Juvenile Neuronal Ceroid Lipofuscinoses, also known as Batten disease, a rare and fatal genetic disorder of the nervous system that begins in childhood.

A $2.5 million gift from the Beyond Batten Disease Foundation and Cherie and Jim Flores enabled the Jan and Dan Duncan Neurological Research Institute to invite Dr. Ballabio and his colleague, Dr. Marco Sardiello, to collaborate on this research specific to Batten disease. The gift is the largest single research award ever made in this disease area. The mission of the Beyond Batten Disease Foundation is to increase awareness and raise research funds for both finding a cure and developing a universal carrier screening test for hundreds of devastating genetic diseases.

“It is a wonderful gift to have Dr. Ballabio working with our team,” said Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. “He is a distinguished scientist whose research epitomizes the mission of this institute.”

Dr. Ballabio, who was previously on the faculty at Baylor College of Medicine in the Department of Molecular and Human Genetics, focuses his studies on the biological mechanisms underlying genetic diseases, using both traditional and genomic approaches, and the development of innovative therapeutic approaches.

In addition to his work with the TIGEM, Dr. Ballabio currently holds the position of professor in medical genetics at the University of Naples Federico II.

“I am very excited to return to Baylor and contribute to the world class research activities at the Jan and Dan Duncan Neurological Research Institute,” said Dr. Ballabio. “This year will give me the opportunity to perform collaborative research projects with outstanding Baylor investigators and to start joint international research and training programs between Baylor, Texas Children’s Hospital, the Neurological Research Institute and TIGEM.”

Previously, Dr. Ballabio was president of the European Society of Human Genetics and is a member of several professional organizations including the European Molecular Biology Organization. He has published over 230 papers in prestigious, international scientific journals and has received numerous national and international awards for research and culture including the European Society of Human Genetics Award and the Silver Medal of the President of Italy. Dr. Ballabio is also the founder and director of the Biology for Medicine Foundation.

About the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital Recognizing there was no single institution using multidisciplinary research to guide the study of pediatric cognitive development and neurological disorders, Texas Children’s Hospital created the Jan and Dan Duncan Neurological Research Institute. Scheduled to open in 2010, the institute will be the first dedicated facility to use a multidisciplinary research approach to rapidly accelerate the search for treatments for pediatric neurological disorders. The specially-designed facility will be the crossroads where more than 170 researchers (over 15 principal investigators and their teams) across disciplines collaborate to bring promising new therapies to those afflicted with neurological diseases.

About Texas Children’s Hospital
Texas Children’s Hospital is committed to a community of healthy children by providing the finest pediatric patient care, education and research. Renowned worldwide for its expertise and breakthrough developments in clinical care and research, Texas Children’s is ranked in the top ten best children’s hospitals by U.S.News & World Report. Texas Children’s also operates the nation’s largest primary pediatric care network, with over 40 offices throughout the greater Houston community. Texas Children’s has embarked on a $1.5 billion expansion, Vision 2010, which includes a neurological research institute, a comprehensive obstetrics facility focusing on high-risk births and a community hospital in suburban West Houston. For more information on Texas Children’s Hospital,

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