In honor of Rare Disease Day, the following retailers and businesses have signed on to donate a portion of their proceeds on February 26, 2011 to the Beyond Batten Disease Foundation:

In Austin, Texas:
1379 Family Sports Shop
Adelante Boutique
Austin Pilates Barn (Feb. 24 and Feb. 25 only)
Bella-Mi
bettysport
Briley’s Upholstery Shop
Corefit Training
Four Hands Furniture
Girl Next Door
Hayden Avery
Hutson Clothing Co.
Kids Cook
Mellow Johnny’s
The Menagerie
Monogram Lady
Over the Rainbow
Perri Berri
Reform Pilates
Tarrytown Nails
The Tavern (922 W. 12th St.)
Teo’s
Touch of Sass
Tracy Bethel Skincare
Valentines Too
Wendow Fine Living
Wildflower Organics

In Dallas, Texas
Chick-Fil-A at 12120 Inwood Road
Pinkberry at 5959 Royal Lane
Sammy’s BBQ

In Houston and The Woodlands, Texas:
Campioni Restaurant
Sweet Lola Yogurt Bar
Thompson + Hanson
Yvette Williams, Mary Kay Sales (Feb. 20 to Feb. 26)
www.marykay.com/ywilliams2.com or 281-686-1301

In Baton Rouge, Louisiana
By Design Interiors (on 2/25 only)
Fireside Antiques
Paper-N-Things
Red Onion
Samir Oriental Rugs
Stephen Black Ltd.
Taylor Clark Galleries (on 2/25 only)

Study Published in Science Translational Medicine Shows the Average Person Carries 2.8 Gene Mutations That May Cause Fatal Diseases in Their Children

SANTA FE, N.M. and AUSTIN, Texas, Jan. 12, 2011 /PRNewswire/ — A new universal carrier-screening test shows promise for accurately identifying a couple’s risk of conceiving a child with any one of 448 devastating and fatal childhood genetic diseases, as described in a peer-reviewed paper published today in the journal, Science Translational Medicine. Developed by the National Center for Genome Resources (NCGR) with funding provided by The Beyond Batten Disease Foundation (BBDF), the test is expected to become commercially available in the third quarter of 2011, at a cost lower than any single test currently available for any single disease on the panel.

“This represents an important milestone in reducing the number of children and families affected by these devastating illnesses,” said Dr. Stephen F. Kingsmore, Chief Science Officer of the National Center for Genome Resources in Santa Fe, New Mexico. “This is a practical example of recent improvements in the cost/benefit ratio of genome analysis. Advances in gene sequencing will continue to provide new tests and tools for medical professionals, in this case, to reduce the prevalence of severe childhood illness. In this study of more than 100 subjects, the test identified mutations from known carriers with a sensitivity and specificity of greater than 95 percent and also resulted in the discovery of previously uncharacterized mutations that likely cause disease.”

As reported in the Science Translational Medicine article, each person has an average of 2.8 mutations that could be transferred to their offspring and cause one of these fatal diseases. The screening test will provide prospective parents with the ability to identify and understand the risk that they may have for conceiving a child with one of the 448 inherited illnesses included in the screening test. Severe genetic childhood diseases are individually uncommon but together they account for roughly 20 percent of all infant deaths and 10 percent of all pediatric hospitalizations. This screening test has the potential to significantly diminish and, in some cases, eliminate the occurrence of many fatal illnesses in children. A similar carrier screening strategy was used to combat Tay-Sachs Disease (TSD) and resulted in a 90 percent reduction in TSD incidence among the target population. Until now, technology and cost were the primary barriers to expanded use of the same technique on a broader universe of genetic illnesses.

The test represents a cornerstone goal of the BBDF: to prevent Batten Disease and other genetic diseases by providing a low-cost, genetic test to screen couples prior to pregnancy for the disease-causing mutations. Craig Benson, Founding Director of the BBDF said, “This test will screen for nearly 450 diseases and will cost less than any single test currently available for any one of these illnesses. We hope that the use of this test will prevent other families from experiencing the pain and suffering caused by devastating diseases like Batten. The Beyond Batten Disease Foundation is completely funded by individual donors that share our vision and goal to eliminate these illnesses.” A portion of the test’s proceeds will be used by the BBDF to help fund research for a treatment or cure for Batten Disease and provide a sustainable source of revenue to achieve this goal.

The carrier-screening test is expected to become commercially available in the third quarter of 2011.

The National Center for Genome Resources

Located in Santa Fe, New Mexico, the National Center for Genome Resources (NCGR) is a private, non-profit life sciences research institute. The NCGR mission is to improve human health and nutrition by genome sequencing and analysis. NCGR objectives are improved diagnosis, control and cure of disease, and better nutrition. www.ncgr.org

The Beyond Batten Disease Foundation:

The Beyond Batten Disease Foundation is a 501(c)(3) nonprofit organization based in Austin, Texas. The BBDF was founded by Craig and Charlotte Benson of Austin, Texas in August 2008 after their then five-year-old daughter, Christiane, was diagnosed with Batten Disease, a fatal neurodegenerative disorder for which there is no treatment or cure. The mission of the Foundation is to eradicate Batten Disease and hundreds of other rare conditions like it through research and prevention. Craig Benson is President and CEO of Rules-Based Medicine, Inc. a global leader in biomarker testing for pharmaceutical, biotech and research applications. For more information, please visit www.beyondbatten.org.

A Time to Inhale, by Charlotte Benson

Some things our children say are indelibly etched in our memories, word for word. They make us laugh, their naive wisdom stops us dead in our tracks, or they reflect some unattractive part of ourselves we never knew they saw. For me, as I wrote about in the previous issue of this newsletter, it was Christiane’s answer when asked what made her special. She said simply “I get to learn how to read Braille, and one day I’ll get to have a Seeing Eye dog.” Not HAVE to, but GET to! I have thought of those words a thousand times, but mostly I have absorbed the concept of “have to” vs. “get to.” It has given me a fresh perspective on parenting and a summer spent everyday with my children has given me the opportunity to adopt her philosophy. So swimming with the children has transformed from I’ll HAVE to wash the chlorine out of my hair, to I GET to dive to the bottom of the pool and see their faces close up when they pop up breathlessly. And, cooking has transformed from I’ll HAVE to pick egg shells out of the scorched scrambled eggs to I GET to feel her excitement and enthusiasm for success. Disciplining has morphed from I’ll HAVE to hear her whine and complain about an extra chore to I GET to see her mature as I watch her figure out how to unload the dishwasher unassisted. What a lesson she has taught me and I absolutely relish in the gift of “GETTING TO” experience my children in a way I never have before. It’s like taking a walk and slowly inhaling every fragrant flower, stopping to watch where the butterfly lands, and feeling the sun on your shoulders and breeze in your face. There is a consciousness in parenting that is often not intuitive, but so rewarding if we take the time.

As painful a diagnosis as Batten Disease is, I feel incredibly thankful to know its destiny. It allows me to live in the moment with my children and affords me the opportunity to one day look back on the time I spent with them with no regrets. God is faithful to shine His light brightly in dark circumstances and often times through our children. I am enjoying my children from a new perspective: present, engaged and grateful. But as only God can do, I had to be in a place this dark to see a light that bright.

Dear Friends,

I would like to introduce you to our son, Will. He is an outgoing, green-eyed, 7-year old kindergartener who loves to smile and greets everyone with a hug.  He plays soccer, swims and adores his two little brothers. He loves to give “Eskimo kisses, “and say his prayers.   He collects Build-a-Bears, hunts for “waterhorse eggs” at the Beach and loves to watch the zebras at the zoo.  His future was bright, his goals limitless until a life-changing day in June, 2009:  The day our son was diagnosed with a fatal, rare, genetic neurological-degenerative disorder called Juvenile Batten Disease.  It was unimaginable to comprehend that a horrible disease we had never heard of, was planning to ruin my son’s childhood by stealing his vision, mind, mobility and ultimately, his life.

Juvenile Batten is a fatal, inherited disorder of the nervous system affecting 2 to 4 of every 100,000 births in the U.S.  Early symptoms of this disorder usually appear between the ages of 5 and 10, when a previously normal child begins to develop vision problems or seizures. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of vision and motor skills. Eventually, they become blind, bedridden, and physically and mentally incapacitated, requiring 24-hour care. Batten disease is fatal, often by the late teens or early twenties. Over the past year, Will has gone legally blind, suffers short-term memory loss, occasional stuttering and extreme anxiety.  With no current treatments or cure, this is our Will’s prognosis, and at the moment it is grim.  We are in a literal race against time.

But, there is HOPE.  Our family has partnered with the Beyond Batten Disease Foundation.  Beyond Batten was started in August of 2008 by the Benson Family of Austin, TX who also have an affected daughter, similar in age and symptoms to Will. The foundation is currently funding a group of Italian researchers at Texas Children’s Hospital who are working on a developing a potential treatment for Batten disease.   Together, we will work to accomplish our shared mission:

TO ERADICATE JUVENILE BATTEN DISEASE.

HOPE has been the theme of our journey, which began with our first major, local fundraiser “HOPE Under the Stars” for the Will Herndon Fund for Juvenile Batten Research and the Beyond Batten Disease Foundation that took place in November, 2009. At this event, we were able to share Will’s story and our mission to more than 600 guests and raise nearly $220,000 for research.  Our hope is to continue this momentum with the 2nd Annual Brake Specialists Plus “HOPE on the Green” Charity Golf Tournament and Dinner to take place on Thursday, September 16, 2010 at Grey Rock Golf Club in Austin, Texas.

Monies raised will be donated to fund researchers working to find a treatment and/or cure for Juvenile Batten disease right now.  With no current treatment or cure, our HOPE rests heavily with the privately funded researchers dedicated to fight this disease.    The more researchers dedicated to this rare disease, the higher the chance of a development within our children’s lifetime.  Our goal is to save Will and the hundreds like him.  Failure is not an option; our son’s life depends on it.

On behalf of our family, thank you for your interest, prayers and continued support of The Beyond Batten Disease Foundation.

Kindest regards,

Wayne and Missy Herndon

For more information regarding the 2nd Annual Brake Specialists Plus HOPE on the Green Charity Golf Tournament click here.