BBDF is very proud of the research we have funded over the last 8 years. We are especially honored to have worked with Drs. Marco Sardiello, Michela Palmieri and their colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital. These researchers are devoted to helping patients with Batten disease and are vital partners in our efforts. We are delighted that their work was published in Nature Communications this week. Nature Communications is ranked in the top .04% of 28,000 subject journals. Read the article: http://www.nature.com/articles/ncomms14338.
The paper is important to the understanding of how healthy cells manage waste disposal, but also because it proves an important concept for treating juvenile Batten disease in mouse models, propelling us forward down the drug discovery pipeline. Today, BBDF is building on this discovery by working on industrial validation and dosing studies with Evotec, a drug discovery alliance and partnership company, to quickly advance Dr. Sardiello’s findings through the regulatory process, and ultimately to clinical trials.
Dr. Sardiello and his team have made a significant discovery and taken a giant step toward our collective goal to treat Batten disease. We are grateful to him and his team for their dedication and perseverance. In response to congratulatory emails, Marco had this message for BBDF donors, “We are proud to be working with you! This could only happen because of your continuous support. More news coming in the next few months… stay tuned!”
To read more:
Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital press release:
Baylor’s press release:
On July 29, 2015, house bill 823, An Act Establishing the Advisory Council on Rare Diseases within the School of Medicine at UNC Chapel Hill, was ratified by the North Carolina General Assembly. The Governor signed this legislation on August 5, 2015. The legislation received bi-partisan support and passed unanimously through the NC House and Senate. Now, a year later,Gov. Pat McCrory following a unanimous vote by the N.C. legislature has renamed the legislation Taylor’s Law in honor of Taylor King, 17, who suffers from infantile Batten disease. To read the article click HERE.
Taylor’s Tale, a 501c3 nonprofit organization, was founded in 2007 by family and friends of Taylor King of Charlotte, North Carolina, who was diagnosed with infantile Batten disease in 2006 at age 7. Since then the organization has been a leader in rare disease advocacy efforts.
Taylor’s Tale President Sharon King was the catalyst for this bill, which was championed by N C. Representative Becky Carney (D-Mecklenburg). Sharon first presented the idea to state legislators at a breakfast sponsored by Taylor’s Tale in late March 2015. After the bill was filed on April 14, it sailed through the House and Senate in just over three months, passing unanimously at each stage. House Bill 823 established an advisory council on rare diseases within the School of Medicine of the University of North Carolina at Chapel Hill.
This council will act as advisors on research, diagnosis, treatment and education relating to rare diseases. Appointed members will include:
- A physician with experience researching, diagnosing or treating rare diseases
- A medical researcher with rare disease research experience
- A registered nurse or advanced practice registered nurse with experience treating rare diseases
- One rare disease survivor
- One rare disease foundation representative
- One representative from each academic research institution in North Carolina that receives any grant funding for any rare disease research
Please view this video describing Dr. Tammy Kielian’s work at the University of Nebraska. Dr. Kielian is spearheading a program to treat children with juvenile Batten disease, like her niece Olivia, with two different and potentially beneficial medications. Just like BBDF-funded investigators at Texas Children’s Hospital, Dr. Kielian is working as quickly as possible to bring her ideas to the Federal Drug Administration (FDA) for approval to conduct a clinical trial.
View video here.
Running for Taylor in 50 States: Hawaii
When I crossed the finish line of Charlotte’s Thunder Road Half Marathon blindfolded in November 2013, I knew the race would be a tough act to follow. But I didn’t intend to stop running for my sister, Taylor, and our fight against Batten disease and other rare diseases. That’s why I’m running a race in all 50 states – a feat not as rare as running 13.1 miles blind but one that I hope will help me spread our story far and wide.
A lot of people think you should save the best for last. But my little sister, Taylor, has dreamed of visiting Hawaii since she was tiny. That’s why I signed up to run the Kauai Half Marathon while I could still tell her stories about it. That’s why, on the island of Kauai on Sunday, September 6, Hawaii became state number eight in my quest to run a race in all 50.
I learned about the Kauai race via Jesica D’Avanza, who featured my blindfolded half marathon story on her blog, runladylike.com. Jesica stumbled across the race during a vacation on Kauai in 2014 and signed up on a whim. I registered for this year’s race nearly a year in advance – just a few days after Jesica crossed the finish line and published a blog post about her experience.
In June, I sent a link to my video about why I’m running for Taylor to Jeff Sacchini, founder of the Kauai Marathon. When Jeff responded a few hours later, I knew I’d made the right choice for my Hawaii race. Jeff and Robin Jumper, who’s in charge of marketing for the race, bent over backwards to help make sure we spread the word about Taylor’s Tale.
In July, Kauai’s Garden Island newspaper shared our story; read the article here.
On September 3, I finally arrived on Kauai with John after almost 12 months of planning. The race had become even more meaningful after a rash of injuries this year, including a stress fracture, a sprained ankle and a chronic posterior tibial tendon issue that still hasn’t fully healed. When I sprained the ankle in mid-August, I thought I wouldn’t be able to run on Kauai. I’d gone for one run longer than six miles since finishing the Charlottesville Half Marathon on Easter Sunday, and that would have to be enough. I was flying to a remote island chain 5,000 miles from home to run a hilly, humid half marathon fresh out of rehab and with essentially no training. On the plane, I had to remind myself that these runs aren’t about speed.
But on Friday, John and I hiked four miles in Kauai’s Waimea Canyon, and my ankle survived.
On Friday afternoon, I did a phone interview with Hawaii News Now out of Honolulu while John and I were driving back from the canyon. The story aired that evening at 6, but you can watch it here.
That night, I joined Jeff, Robin, Runner’s World Chief Running Officer Bart Yasso, elite marathoner and past race champion Tyler McCandless, Mayor Bernard P. Carvalho, Jr. and others at the VIP dinner on the lawn of the Grand Hyatt.
Thanks to Jeff and Robin for inviting me to share Taylor’s incredible story at the VIP dinner; I gave the event’s closing speech. Watch it here (the video isn’t great on the Hyatt’s dark lawn, but the audio is fine; kudos to my wingman for recording the whole thing!).
Toward the end of the night, a young woman named Mary found me and thanked me for sharing my story. Then, she started crying. Batten disease is in her mother’s family, she said.
Batten disease is not so rare.
On Saturday morning, I did a live radio interview with Ron Wiley of Kauai’s KONG Radio while in the car on the way to a helicopter tour. It was an awesome chat, and I wish I’d thought to ask Ron to record it! But as Ron said later, it just “went out into the ozone!”
When we arrived back at our hotel that afternoon, we found an envelope with this note slipped underneath our door:
“This,” I said to John, “is why I run.”
Sunday morning (about 3:30 a.m. to be exact) marked go-time. We weren’t living on island time, but I didn’t care. When I climbed out of bed, the darkness all around me, I couldn’t wait to run. As usual, I dressed in purple for Taylor, including a headband that was a gift from my friend Kelli for this race and a purple lei that wouldn’t survive 13.1 miles in the sweltering humidity. On my arm, I wore an armband with a photo of Taylor finishing her first 5K (that photo wouldn’t survive either; it was so hot that the colors bled). But my bib might have been the most special of all: the number 17 (for the birthday Taylor just celebrated) and Taylor’s name where mine normally would have been.
While we were waiting for the race to begin, John wandered over to a table with fresh coffee compliments of Kauai Coffee, where we met a volunteer named Susan. She asked me about my wristband, and when I shared my story, she said, “You were in the paper.” She knew all about Taylor, and she explained that she suffers from a rare disease. Thank you, Susan, for the coffee and for sharing your story.
Rare is everywhere.
The race began just as the sky began to brighten with the first light of dawn behind the mountains and swaying palms. Somehow, the beauty all around me helped take my mind off the miserable heat and humidity – worse than usual for Kauai due to all of the hurricanes swirling in the Pacific. I said a prayer to God that my injuries wouldn’t rear their ugly heads and that I could survive the heat and hills despite getting close to no training.
The Kauai Marathon is like no other race I’ve ever run. It’s on a remote speck of land in the middle of the Pacific Ocean, but it attracts a sizable field – everyone from locals running their first race to elites like Tyler McCandless. And the “aloha spirit” of Hawaii is truly alive at this race. Even on the loneliest stretches of the 13.1-mile course, residents played beautiful music and encouraged us on the toughest hills and sprayed us down with hoses when the heat got to be almost too much to bear.
When I entered Kauai’s famous tree tunnel, I came up alongside another female runner from the mainland. An Ohio resident, she and her husband had traveled to Kauai, where they were married, to celebrate their third anniversary. We took photos of the tree canopy (mine are too blurry to post) and shared our stories, and then we parted ways. It was one of those moments that might seem insignificant but that I’ll remember forever.
Mile 11 smacked me in the face with perhaps the biggest hill on the course, or maybe it just felt that way because by now it was about 90 degrees, with the heat index likely soaring higher due to the moisture in the air.
At the final aid station, I took a wet towel from a volunteer and wrapped it around my neck. I poured one cup of water down my throat and the other down my back. And when I glimpsed the ocean for the first time while descending that killer hill, I thought I might be running toward heaven.
The last stretch of the Kauai Marathon is one of unspeakable beauty, but I was so focused on the finish line, I barely saw it. Just before I leaped over the timing mats at the end, I looked up at the sky and thanked God, tears streaming down my cheeks. I was almost dizzy from the heat.
I’d finished in 1:57:26 (8:58/mile) – 13 minutes slower than my personal record for the distance, but great considering what my body had been through the past five months. Thanks to all those injuries, I’d run longer than six miles just once since the first weekend in April, and yet I managed to finish 129th overall (of 1,130) and ninth in a tough division. More importantly, I’d given it my best effort, and that’s what Taylor would have done.
My post-race activities consisted of this:
Normally, John and I split pretty quickly after I finish a race. But after I tended to my screaming legs and feet (with the help of more awesome race volunteers), we took some time to drink in the scene. Hawaiian music was playing on-stage; palms swayed in the breeze; waves crashed against the shore just 10 feet from the finish line; and above it all, the sky was an impossible shade of blue.
This is the Hawaii my sister is missing, I thought. And I hated Batten disease as much as ever right then. But I knew, too, that that’s exactly why I could never, ever stop running.
Thank you to Jeff Sacchini, Robin Jumper and all those who made the Kauai Marathon an incredible event. Thanks also to Bart Yasso for helping me spread the word about Batten disease, and congrats to Tyler McCandless for winning the half marathon for the second straight year! Finally, thank you to the entire staff at the Grand Hyatt Kauai but especially Chris and Ian of the bell staff and Malissa of the Anara Spa.
Awareness is awesome, but Taylor’s Tale needs your support to build a better future for millions who, like Taylor, are fighting a devastating rare disease with no known cure. Please help me honor my sister’s legacy by making a tax-deductible donation to Taylor’s Tale. Donate Now
Beyond Batten Disease Foundation is participating in Genetic Alliance’s Platform for Engaging Everyone Responsibly (PEER) registry initiative. PEER was honored at the White House’s Champions for Change for being a precision medicine leader. Read the press release below.
Washington, DC (July 8, 2015) — The award-winning Platform for Engaging Everyone Responsibly registry (PEER), developed by Genetic Alliance and Private Access, was showcased along with four other precision medicine tools at today’s White House Champions for Change Celebration. The event honored nine precision medicine leaders and highlighted advances in the field.
The White House invited five innovative projects to describe their commitment to precision medicine. As one of the five, Genetic Alliance president and CEO, Sharon Terry, announced that the registry has newly added the capability for individuals to directly upload data from their Electronic Health Record (EHR) systems into PEER. She added that the group plans to begin deploying this in both existing and slated PEER Community releases over the next few weeks. Speaking about the new functionality, Terry said: “We have a long history of commitment to the vision of precision medicine and to providing people a way to be engaged in research safely and securely. The ability to upload clinical data directly into PEER Community portals adds a critical feature that will advance this work.”
PEER differs from traditional registry systems in that it lets participants dynamically control: a) how much information they wish to share, b) with whom they elect to share it, and c) for what purpose. These tools have set PEER apart by putting granular and dynamic information control in the hands of patients, participants, and their authorized representatives. In her remarks, Ms. Terry explained that these controls extend to all clinical information entered, including EHR data. “It is fundamental to the PEER vision that each participant be able to decide who can access their information, and for what purpose,” she stated. “We believe this is foundational to engagement and trust.”
Cerner Corp. and the National Association for Trusted Exchange (NATE) assisted in adding PEER’s new clinical data acceptance capabilities – PEER can now accept coded, clinical, Direct-compliant data. Consistent with Meaningful Use, participants can securely send this information directly to PEER from their patient (PHR) portals, or can instruct their providers to transmit this information on their behalf. PEER’s systems will automatically route data into each individual’s record, where it will be governed by the individual’s personal privacy preferences.
Every nonprofit dreams of a national morning show interview to help spread awareness about their mission. Celebrity endorsements, Cosmopolitan articles and an exploding media presence are usually too much to hope for. But that’s what happened this week. The spotlight has been on our rare disease these last few days thanks to Kristen and Gordon Gray. A few months ago, their daughters, Charlotte and Gwenyth, were diagnosed with CLN6, a rare form of Batten disease. Like so many families affected by this horrible disease, they are doing everything they can to save their kids. In the Gray’s case, they are using their Hollywood connections to raise funds for research and we are so appreciative that their efforts have brought international attention to Batten disease.
The Grays called BBDF shortly after they received the diagnosis. They were encouraged by our strategic approach and the research we are funding and through us could see the power of partnering in action. Unfortunately, there are many forms of Batten disease. While they share a name, all forms of Batten disease are different in terms of research and potential treatment options. Currently there is promising research going on in all the forms, unfortunately there is no known cure for any of them. How wonderful it would be to cure them all!
Awareness is an important part of our mission and the Grays took that to a new level this week. Over the last 7 years, you too have used your talents and resources to help the Bensons and Herndons tell their stories, sharing juvenile Batten disease information with your friends and families and spreading the word far and wide. We can never thank you enough. Keep up the good work! The foundation will continue to work with all related Batten disease groups where we have common research interests. And we urge you to please take advantage of the opportunities provided by the Grays to remind your communities why you care about this disease, BBDF and our mission.
Please don’t hesitate to reach out with questions, concerns or new ideas that have been generated by the recent attention. Thank you for giving hope to kids like Christiane, Will, Charlotte and Gwenyth!
Mary Beth Kiser
President and CEO