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 www.beyondbatten.org.

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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, visitwww.texaschildrens.org.


Called to Action

Kristin Armstrong from Runners World writes about running for a purpose.

published May 8, 2009

“…Paige ran the same race wearing a T-shirt emblazoned with BeyondBatten.org on behalf of some friends who have a 6- year-old daughter with Batten disease. This rare, incurable disease causes children to lose their eyesight, their minds, and eventually their lives before their teenage years. What can you possibly say to comfort parents who are living with the knowledge that they are losing their child? When words are insuffcient, people who run make an offering of miles.”

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