Mark Shultz, Ph.D – BBDF’s first graduating doctor
Your generous donations are supporting inspiring and promising researchers who are committing their careers to finding a cure for Batten disease. Mark Schultz is one such researcher who recently graduated with a Ph.D. with the help of BBDF funding in partnership with Batten Disease Support and Research Association (BDSRA). Mark has and will continue to devote his career to finding a cure for Batten disease. Read Mark’s story below.
My first exposure to juvenile Batten disease occurred during an undergraduate neurobiology course at Wartburg College when I was assigned to write a paper discussing the current status of juvenile Neuronal Ceroid Lipofuscinosis (JNCL, juvenile Batten disease) research. I recognized that there were a lot of unanswered questions on the basic function and location of juvenile Batten disease protein, CLN3, preventing the development of effective therapy. One year later, while applying to graduate schools in medical research, I recognized the name of prominent JNCL researcher, Beverly Davidson, Ph.D. My interest in JNCL was high. I sought out a position in Dr. Davidson’s laboratory at the University of Iowa and began my graduate career as a JNCL researcher.
Local boy to be honored at relay to find cure for his fatal disease
published on March 25, 2014 in Woodlands Online
THE WOODLANDS, Texas–Rarity is the greatest challenge orphan diseases face. Affected patients are spread out across the country and around the world. Less than 100 children in the United States suffer from Batten disease: a rare, genetic neurodegenerative disease that affects children and is always fatal. The goal of Beyond Batten Disease Foundation (BBDF) is to consult and collaborate with like-minded groups such as other neurodegenerative disease foundations and Batten families across the globe to pool the resources and funding necessary to drive treatment-based research. There will only be one clear measure of success: providing treatments and a cure for Batten disease.
In April, Batten communities from across the globe will come together to raise funds and awareness for treatments, and a cure for Batten disease at BBDF’s 4th Annual Run to the Sun Relay. Hosted in Austin, Texas, over 25 teams of runners will run more than 90 miles in a spectacular overnight journey through the Texas Hill Country. Run to the Sun serves as an opportunity for all Batten communities from different cities, states and countries to join forces to raise awareness and funds for research. Each leg of the relay will be dedicated to a child suffering from Batten disease. Along the route, participants will get the chance to meet and learn about the children that they are running to save. In the past, teams of runners from other Batten communities made the journey to Austin to participate in the relay in person, while some created virtual teams and ran the 90 miles with us from miles away.
This disease affects Will Herndon here in The Woodlands, Texas. Will will be honored at this year’s relay by having a leg of the race dedicated to him. Runners will be able to view pictures and a biography of Will, giving them the opportunity to get to know who they are running for.
The Herndons started the Will Herndon Fun of the Beyond Batten Disease Foundation in 2009, and in the past four years, have done so much to increase funding and awareness for Batten disease. To watch their story, click on the link below.
Finding treatment and a cure for juvenile Batten disease is a cause that is present and necessary in our community. Please help raise the much-needed awareness about this devastating disease by sharing Will’s story.
To learn more about Run to the Sun, contact Mary Beth Kiser at mbkiser@beyondbatten.org or 512-275-2600.
For more information about juvenile Batten disease and Beyond Batten Disease Foundation, please visit the website below.
Beyond Batten Disease Foundation Announces Participation in 2nd Annual “Amplify Austin” Event
In 2008, local Austin couple Charlotte and Craig Benson received the devastating diagnosis that their then five-year-old daughter, Christiane, had juvenile Batten disease. Batten is a rare, inherited neurological disorder that strikes young children, first causing vision loss and seizures, then cognitive and motor impairment, and ultimately late death by the late teens or 20s. Determined to make a difference, the Benson family established Beyond Batten Disease Foundation (BBDF). The Bensons experienced an outpouring of love and support from their friends and family in the Austin community. Over the past five years, these supporters have continued to give their time, talent and treasure to help the foundation accomplish its mission of eradicating Batten disease. Because of their support, BBDF has been able to make huge strides towards its goal – raising funds and awareness for research and leading development of an easy and inexpensive, groundbreaking blood test to detect the gene mutations that cause Batten disease as well as 700-plus other rare, but serious and often fatal childhood ailments
Beyond Batten Disease Foundation has strong local ties in the Austin community and is proud to announce its participation in Amplify Austin 2014. What began as the inspiration of one child has grown to be the voice for all affected children and their families. BBDF looks forward to accelerating their mission with the help of Amplify Austin and the Austin community. To make a contribution to BBDF through Amplify Austin, schedule a donation today or log on to www.amplifyatx.ilivehereigivehere.org/BeyondBatten on March 20th at 6 p.m. through March 21 at 6 p.m. To learn more about BBDF, visit www.beyondbatten.org
ABOUT AMPLIFY AUSTIN: Last year, the “Amplify Austin” event, powered by Kimbia, raised nearly $3 Million for Central Texas nonprofits in only 24 hours. This hugely successful event benefitted over 300 participating local nonprofits. In today’s changing environment for nonprofits, development executives and community leaders are turning to online-enabled giving days for fresh and highly effective ways to: attract new donors and more funds; drive greater collaboration with nonprofit organizations; and raise community-wide awareness of their work, value and brand. Amplify Austin is an initiative of I Live Here, I Give Here. To learn more, visit www.amplifyatx.ilivehereigivehere.org
To view this release on PR Web, click here.
Aspiring politician aims to spread word on rare childhood diseases
by Stephanie Buckner in Cleveland Advocate
published March 14, 2014
Juvenile Batten Disease is an extremely rare, fatal and inherited disorder that affects the nervous system and begins in childhood.
For Chuck Meyer, who was most recently a congressional candidate for District 36, the rare disease is something that has become a big part of his everyday life.
Meyer’s 18-year-old daughter, Emily, was initially diagnosed as an explosive inflexible child, which Meyer describes is best understood by imagining a child that never outgrew tantrums that typically die down at an early age. Other effects of the disease became apparent as time goes by.
“Early on, we noticed her inability to differentiate between two objects that she would be looking at — like a plane in the sky — or we would be looking at a fish in the pond and she wouldn’t be able to see the fish at all, so we thought that was really strange,” said Meyer.
The Meyer family began taking Emily to get prepped for eyeglasses; however, optometrists were never able to get an accurate reading for her to do so and informed the Meyers’ that Emily’s optic nerve seemed to have never fully developed. With her condition worsening and with no explanation as to what exactly was happening to little Emily, the family began the pursuit of a diagnosis.
Eventually, a doctor noticed something concerning on Emily’s retina. The discovery led to a series of tests in an effort to rule out a variety of diseases.
“The doctor told us that her optic nerve was deteriorating and that it could be one of a number of things,” said Meyer. “He mentioned Juvenile Batten Disease but he told us not to go and look it up because it would probably scare us and it was highly unlikely that that’s what it was since it is so rare.”
Meyer admits that even though they had been advised not to do so, he and his wife did so regardless. They discovered many facts about the disease, which is essentially the gradual deterioration of the nervous system. One of the first things to be affected is vision, explaining Emily’s sight troubles.
“Many people see personality changes in their children and we never really saw that with Emily,” said Meyer. “Looking back there were some behavioral problems but we just never really suspected that that was what it was. When we did get the diagnosis, I literally fell out of my chair.”
He continues by saying that he “never in a million years thought that Emily would have this disease,” which he describes as incredibly complex.
Meyer credits the diagnosis with launching his potential political career, saying that in 2010, he believed that if he ran against Sheila Jackson Lee, he could use the press to garner some attention for rare childhood diseases. In 2014, he ran for Congressional District 36, but was defeated in the primary. Though he lost the race, his pursuit of awareness has not subsided.
He also advocates research for the disease and other rare childhood diseases. Baylor College of Medicine is one of the few research facilities that is currently striving to find a cure for the rare disease. The Beyond Batten Foundation is the one of which the Meyer family is very supportive, as it raises funding specifically for the research of Juvenile Batten Disease. The foundation has also worked to develop tests that parents can now use to determine the likelihood of children being born with diseases before conception.
“This is my passion; to try to get the word out to anyone who will listen about childhood diseases and about why we need more awareness throughout society,” said Meyer.
Currently, Emily processes things as a 6-year-old would, despite being a young adult. While she does utilize a wheelchair, she is not completely dependent upon it yet, though in time, she will be required to use it full time. She can no longer speak in complete sentences, though she is at a point where she still understands how to communicate her basic needs.
Emily, who once dreamed of being an Irish dancer and at one point, according to her father, was the only blind Irish dancer in the United States competitively, still uses her legs to mimic the movements of dances of which she is familiar. This May, Emily will be rolled across the stage at College Park High School, where she will receive her diploma.
“It is only through prayer that my wife and I have been able to get through this,” said Meyer. “Speaking about this is so much harder for me than any campaign speech because it is so personal. We have hopes that maybe she will live into her 30’s instead of her 20’s since her affliction is slower progressing than other forms.”
For more information about Juvenile Batten Disease, visit www.beyondbatten.org.
Going social for Alzheimer’s research
by Jim Cirigliano in Drug Discovery News
published January 10, 2014
NEW YORK—The Alzheimer’s Drug Discovery Foundation has announced a new program that will provide a searchable online marketplace for academic and small biotech researchers seeking contract research organizations (CROs) that provide drug discovery and development services. The program, called ADDF ACCESS, links small biotech and academic research communities to a network of more than 130 CROs that provide industry standard services for central nervous system (CNS) indications.
The program also includes access to drug discovery experts who can provide help in selecting from among the CROs, as well as guidance on the drug discovery process. Registration for the ACCESS program is free.
“The ADDF is regularly approached by scientists in academia and small biotech to provide recommendations for contract research organizations and to provide advice in navigating this sector of the life sciences industry,” says Dr. Rachel Lane, assistant director of scientific affairs at the Alzheimer’s Drug Discovery Foundation. “ADDF ACCESS provides a go-to resource of CROs working in the CNS space and provides guidance on selection and management of CROs.”
CROs have become vital partners for drug discovery and clinical development among programs conducted by academia and small biotech firms that often run on virtual models, Lane notes. CROs are able to offer external validation of data, clinical lab environments that are industry regulated, and drug development expertise.
In addition, CROs have proven valuable to the pharmaceutical industry and private equity groups who use them. Large pharmaceutical companies have developed the means of identifying and managing CRO networks of their own, but academia and small companies typically lack access to these networks or lack the experience to navigate them or use their services effectively.
In addition to providing academic and small biotech researchers access to a selection of CROs, the ADDF program has also negotiated discounted pricing with several of the vendors in the network. Some CROs in the network will provide their services at discounted rates to investigators who are referred through the ACCESS program.
Although the marketplace is not currently a list of “preferred” vendors, the ADDF and a team of consultants are working to perform due diligence on the CROs included in the network. The ADDF has created educational materials designed to guide researchers through best practices for selecting a vendor and managing a CRO contract.
The ADDF is also working to expand the network in the future and has begun building a consortium of nonprofit partners that includes scientists working on many neurodegenerative diseases. BrightFocus Foundation and Beyond Batten Disease Foundation have provided partnership support for the program’s expansion so far, and the ADDF hopes to reach an even broader, multidisciplinary community.
The next step for the program is the completion of its social media platform—a community feature of the site that will allow researchers to relate their experiences with the network of CROs to one another and to engage in an online forum.
“The community feature will provide an online discussion platform and social networking tool to allow users to provide objective feedback on CROs, facilitate discussions on emerging trends in drug discovery for neurodegenerative diseases, allow users to follow companies and create networks of researchers to promote the formation of interdisciplinary teams across CNS therapeutic areas,” says Lane.
The ADDF also looks to continue doing due diligence on the companies in its network to ensure that they are properly categorized according to their core competencies. Looking somewhat farther into the future, the ADDF anticipates developing a platform to highlight promising drug discovery programs within the ADDF portfolio that are available for partnering or licensing opportunities.
The Alzheimer’s Drug Discovery Foundation’s mission is to accelerate the discovery of drugs to prevent, treat and cure Alzheimer’s disease, related dementias and cognitive aging. The ADDF provides funding for drug discovery and clinical development programs in academia and biotechnology companies via a venture philanthropy approach, with funding spanning the translational space from preclinical development through Phase 2 clinical trials.
The ADDF regularly partners with other foundations and industry to leverage resources and funding for its programs. The ADDF has granted nearly $60 million to fund 400 Alzheimer’s drug discovery programs and clinical trials in academic centers and biotechnology companies in 18 countries.
http://www.ddn-news.com/index.php?newsarticle=8044
Overnight run from Enchanted Rock to Austin to Save Lives
How far would you run to save a life? Ten miles? 26.2? Even 50? In late April, 25 teams of runners will run more than 90 miles in a spectacular overnight journey to raise money and awareness for juvenile Batten disease, a rare, fatal, neurodegenerative disease that affects children.
Run to the Sun Relay is an overnight, long distance relay that starts each year at Enchanted Rock State Park and ends at Murchison Middle School in Austin, Texas. The 4th Annual Run to the Sun Relay will begin on April 26, and will end with a sunrise celebration and 2K Fun Run on April 27. We expect over 400 people to participate. We encourage all participants and their families, and friends of Beyond Batten Disease Foundation to join us at the sunrise celebration breakfast held at the Murchison Middle School track. We will stand together at sunrise to acknowledge the strength of all those affected by Batten disease and envision a world where this devastating disease no longer exists.
Run to the Sun was created four years ago by the parents of an Austin fifth grader with juvenile Batten disease. Each year, her teachers and family friends form teams to run, and her friends from school work as volunteers during the race. This is a remarkable story – about an unusual race and an unusual family, who responded to this devastating diagnosis by working to make a real difference.
Over the past 3 years, the relay has raised almost $700,000 to support Batten disease research. This year, the foundation wants to increase our total to $1 million, and needs the support and participation of the Austin and Batten disease communities to reach that goal. Whether old or young, fast or slow, near or far, this event offers a variety of opportunities for both runners and non-runners to get involved in the fight to eradicate Batten disease.
WE WOULD LOVE YOUR HELP IN PUBLICIZING SIGNUPS FOR THIS EVENT NOW, AND IN COVERING RUN TO THE SUN ON THE DAY OF THE RELAY. We’re looking for runners to participate in the relay and for volunteers to support them as they run through the night. Our 2K Fun Run is open to people of all ages and speeds. This is a fantastic opportunity for many kinds of coverage, including a fun way to keep New Year’s fitness resolutions, a medical story, an education story about the involvement of local teachers, or a live shot on the night of April 26 or the morning of April 27.
To learn more about Run to the Sun, please visit www.runtothesunrelay.com or contact Mary Beth Kiser at info@beyondbatten.org or 512-275-2600. We are happy to connect you with runners, with volunteers and with families affected by juvenile Batten disease.
For more information about juvenile Batten disease and Beyond Batten Disease Foundation, please visit www.beyondbatten.org.
Click here to watch the inspirational recap video from Run to the Sun Relay 2013.
To view this release on PR Web, click here.
“Don’t Let Disease Be Your Grinch This Christmas,” Says Mother of Patient with Batten Disease
“A Mother’s Story” by Charlotte Benson
republished by The Global Genes Project on December 21, 2013
With the holidays approaching, the children and I have decided to decorate our front yard with characters from our favorite Christmas story: Dr. Seuss’ How the Grinch Stole Christmas.
Twelve years ago, my brother, John, made a Grinch who sat on the front porch at Christmas, and I remember all of the children being fixated on every detail, fascinated with his yellow eyes, bright green skin, and long fingernails. Every wrinkle of his face was animated with a grin that held the awful thought of his plot to end Christmas by stealing it away from the Whos. Every child imagined what it would be like to wake up with no presents or toys, and the Grinch would finally be satisfied that he had put an end to the noise and commotion of Christmas.
So with inspiration from my brother, I struck out to set up tables in the backyard, pulled out the paint and brushes, and began creating our very own Grinch with a jigsaw. One cut led to another, and it seems now we are creating the whole scene where the Grinch is crouched at the top of Mt. Crumpit with one finger on the sleigh full of stolen presents teetering on the edge of a cliff. Overcome with shock and disbelief, he cups one hand to his ear because he hears music and singing coming from Who-Ville beneath. He realizes that his horrific act didn’t stop Christmas from coming……it came anyway! The Whos are standing hand in hand joyfully singing, in spite of the fact that there are no toys and presents.
I must admit, the child comes out in me at Christmas, and I absolutely love the creative process and fantasy of what it will all look like when it is finished. I enjoy the buzz from waking up in the middle of the night with a new idea and the simple mindlessness of painting and cutting. So with the jigsaw humming, and sawdust flying, the whole scene animated itself in a completely new way for me. It occurred to me that not only was I creating a scene from a popular Christmas story, but I was animating a belief that I hold deep at my core.
Life is difficult. People get sick, loved ones die, parents get divorced and at one time or another, we are all faced with pain and suffering. But in spite of how challenging life can be, God promises us what is constant and unchanging and provides us with what will sustain us through any storm.
Batten Disease is a horrible disease that may cripple my child and leave her blinded and perhaps take her away from us too soon. But I remind myself that Batten Disease CANNOT cripple our love, or blind our faith or take away courage or rob our peace or destroy love, friendship, and community. And it will never take away hope.
So my Christmas wish to you is never forget: Nothing….Nobody……Not even the Grinch can steal away your faith, hope, love, and joy!