Lysosomes have traditionally been thought of as the cell’s trash cans. However, recent evidence suggest that a more appropriate analogy for lysosomes would be arecycling plants – proteins degraded in lysosomes are broken down into components that can be used for other purposes. Recycling of superfluous or toxic material allows cells to remain efficient and ensure normal function during cellular stress. A recent study by the laboratory of Dr. Kartik Venkatachalam and colleagues at the University of Texas Health Sciences Center in Houston, Texas, shows a loss of lysosomal function in fly and mouse models of juvenile Batten and Mucolipidosis type IV, another lysosomal storage disease with similarities to Batten. Consequently, neurons (brain cells) in these animal models suffered a scarcity of components generated via lysosomal protein degradation (recycling) and diminished activation of critical cellular pathways responsible for brain function and prevention of neuronal loss. Remarkably, the authors have found that administration of a high-protein diet along with a drug currently in phase II clinical trials for treating cancer significantly inhibited neuronal dysfunction in animal models. These findings suggest that this or a similar pharmacotherapeutic strategy could inhibit neurodegeneration in children with juvenile Batten and other lysosomal storage diseases. Read the Cell Reports article.
On Monday, Craig Benson and Danielle Kerkovich, PhD met with Tammy Keilian, PhD and Michelle Hastings, PhD, who were in Chicago attending the Society for Neuroscience meeting. Both researchers are focusing on CLN3 deficiency, which results in juvenile Batten disease. Dr. Keilian is working on gene therapy for CLN3, whereas Dr. Hastings is using combined strategies to create a modified version of the CLN3 protein. BBDF learned about their promising strategies, which could potential treat juvenile Batten disease.On Wednesday and Thursday, Dr. Kerkovich attended the Rare Diseases and Orphan Products Breakthrough Summit
in Arlington, VA. The 2015 Summit features 20 speakers from the FDA, NIH Office of Rare Diseases and the National Center for Translational Science. The focus of this year’s meeting is to address the progress of rare disease diagnosis, drug development, and patient engagement.
Last week, Drs. Kerkovich and Noggle met with members of the Batten Disease Center at the New York State Institute for Basic Research in Developmental Disabilities in Staten Island, New York. They were pleased to meet Clinical Geneticist, Dr. Milen Velinov, MD, PhD; Nurse Administrator, Maureen Gavin; and mother of 3 affected by juvenile Batten (CLN1) disease, Edie Dockter. Milen, Maureen, Edie and their colleagues have done a tremendous job leading the development, curation and management of the Batten Disease Registry, which collects data on all Batten cases in the U.S. and abroad. Over 1,200 patient profiles have been entered into the registry. The Cell Culture Repository, also housed at NYSIBR, holds the largest collection of fibroblasts and lymphocytic cell lines from individuals with Batten disease and their families in the United States.
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