Notes from London: Day Four

Published: March 31, 2012 ~ 0

By Laura Edwards

Today marks the end of the 13th International Conference on Neuronal Ceroid Lipofuscinoses (NCL) at the University of London’s Royal Holloway College. That means this is also my last “Notes from London” post.

Mom walked this path from her dorm room to the conference center and back again many a time in the past few days. She submitted her final update to me just before the closing banquet and her final climb up the path.

I learned a lot about the setting for this conference – so unlike the nondescript, cookie-cutter American hotels to which we’re so accustomed, via Mom’s final update.

“I went to breakfast the first day and haven’t been back since,” she writes. “No problem with the food – best porridge ever – but I’ve been trying to catch up on sleep. As for the other meals…this is a college, so the proportions are gigantic and I’ve not suffered for lack of carbs. The traditional “pub” dinner was interesting. Fish and chips (HUGE piece of fried fish! May I have mine grilled, please? What???), mashed potatoes, Toad in the Hole (ah, no).” At the end, they served Treacle Tart, a “very traditional” dessert. “Oh, I’ve had that before – it’s Chess Pie!” Mom said, to which the server responded, “No, it’s Treacle Tart.” Last night’s theme was curry – curried chicken, curried lamb, curried rice, curried veggies. Mom didn’t comment on the curry – but she went out of her way to say she enjoyed the salad bar!

Mom wanted to be on time for this morning’s session highlighting emerging and novel therapies for the various forms of NCL (Batten disease), so she ran up the hill. Most of the therapies focused on infantile NCL (the form that affects Taylor) and late infantile NCL, both of which are caused by deficiencies in soluable enzymes. The following therapies were of particular interest for Mom:

Dr. Mark Sands from Washington University in St. Louis described his recently published project demonstrating the synergistic effect of combining gene therapy and bone marrow transplantation for infantile NCL. The data is incredible, and the work MUST go forward.

Dr. Sandra Hofmann of the University of Texas Southwestern in Dallas presented data for her enzyme replacement therapy project. To date, Taylor’s Tale has directly contributed $230,000 to this specific project. In the coming year, Dr. Hofmann and Dr. Sands will collaborate in order to expand the reach of their projects.

Dr. Steven Gray of the University of North Carolina at Chapel Hill presented a gene therapy platform that may work for multiple Batten disease gene therapy approaches (i.e. infantile AND late infantile NCL). Interestingly, it requires an intrathecal injection – which is a routine, non-surgical procedure with minimal complications. Dr. Gray’s work is very interesting, and as a North Carolina-based non-profit organization, we love that it is happening in our own backyard.

Several experts presented on enzyme replacement therapy for late infantile NCL. This work is very close to clinical trial. They showed videos of the long-haired dachshunds in the canine study (yes – dachshunds, too, get Batten disease). The dogs were in the end-stages of the disease and, of course, very sick. They suffered from persistent myoclonic jerks, mental abnormalities, loss of visual tracking, inability to eat…the list goes on. It painted a heartbreaking picture, and Mom saw many faces turn away from the screen and heard many moans of distress among the audience. And yet – the terrible images on the screen did not represent a Hollywood-manufactured horror film. They represented the very real picture of children with this disease. If it breaks our hearts to see it in an animal, what are we going to do about getting behind the incredible scientists who gathered in London this week and help them end the horrors happening in children like my sister, Taylor?

In closing, I leave you with a final note from my mom, who – as I’ve said many times before – is one of the world’s greatest warriors for these children. We must continue to support the amazing work of the Mark Sands, Sandra Hofmanns and Steven Grays of the world. But we need the magic of people like my mom to help turn their great ideas into the miracle we so desperately need.

I have so much hope for the future. Many thanks to those at King’s College London, the Batten Disease Family Association based here in the UK, and others for organizing this tremendously valuable conference. The 14th International Conference on Neuronal Ceroid Lipofusinoses (Batten Disease) will be held at the National University of Cordoba in Argentina. Best of luck to all of the scientists as they head back to their labs. It is with great hope that I look forward to meeting you all again in Argentina to hear of successes in the battle against Batten. I, and many other families, are counting on you.

Notes from London: Day Three

Published: March 30, 2012 ~ 3

By Laura Edwards

Mom must have looked tired when she walked into the conference center this morning, because a kind woman asked how she was feeling.

“Oh, I’ve been hit by a brick,” Mom answered.

The woman’s concerned look turned to one of horror. “I forget that this is an INTERNATIONAL conference,” Mom writes to me later. Determined mothers cross oceans for their sick children. Apparently, hyperboles do not! 🙂

Today marked the official establishment of the Batten Disease International Alliance (BDIA), counting 46 non-profit family support and research organizations from across the globe among its founding members. Following are some of the new alliance’s goals:

Exchange knowledge/education/support
Disseminate recent findings
Promote collaborations
Identify research gaps and create global resources
Establish standard practice in merit review
Provide joint funding to accelerate patient-oriented research
Provide international voice to governments and organizations to ensure fair, included representation of Batten disease in matters relating to research, support, clinical and promotional activities

After three full days in London, one thing is clear: there is a LOT of good science and several infantile Batten disease projects that have the potential to go to clinical trial in a few short years. These projects deserve – NEED – funding in order to get to clinic. The questions are undoubtedly keeping Mom up even now: How MUCH money is needed? How can WE help make it happen? How LONG will it take? How can organizations like Taylor’s Tale help move the work through the approval process? And, there is always a “could” question – how could we NOT try to move this work along?

“I see Taylor in my mind’s eye,” Mom writes late at night, in a dorm room far away from home. “I see her, and I KNOW that I WILL and I MUST work harder.”

Day three yielded incredible information – and more questions. That is the nature of our war. I’ll leave you with this – the end of my mother’s message to me:

On a lighter note, I met a very special young man, Brad, and his dad, Mark Timms, this afternoon. Brad and his family traveled from New Zealand to attend this joint conference of researchers and families. Brad is 21 and fighting juvenile Batten disease. Brad is absolutely delightful, and his personality reminds me a great deal of my Taylor. He is spunky, witty and very talkative. I said hello and introduced myself. In a split second, Brad responded in my very southern drawl (I think he threw in “y’all” for good measure!), followed by a big laugh. Yes, you are definitely “Mr. Cool,” Brad, and I’ll never forget you!

Now, I still feel like I was hit by a brick – I’m going to bed.

Love,
Mom

Notes from London: Day Two

Published: March 29, 2012 ~ 0

By Laura Edwards

Mom had an incredibly busy day in London.

She ran into Steven Gray, a researcher in the Gene Therapy Center at the University of North Carolina at Chapel Hill (yes, my fellow North Carolinians – the world of Batten disease is a dark and scary one, but there is promise – and it is right here in our own backyard!). Mom and my uncle David, a neurosurgeon in Greensboro, and I all drove to Chapel Hill to have dinner with Dr. Gray last year; as we left the restaurant that night, I knew we’d meet again.

Mom met Arlene Drack, an ophthalmologist from the University of Iowa. Mom saw Dr. Drack’s poster and knew she just had to talk to her; Dr. Drack is investigating the retinal degeneration that leads to blindness in Batten disease. Children with Batten disease face so much loss – the vision loss alone is incredibly devastating. These kids are already fighting to walk, to express themselves in ways most of us take for granted, to socially engage with their peers – but the blindness drops a heavy curtain, ensuring their separation from so much that makes life “normal.” If the blindness alone could be stopped, kids like Taylor would have a much greater quality of life. For six fleeting weeks in 2006, we thought Taylor had retinitis pigmentosa (RP) – an incurable, progressive eye disease that causes loss of central and peripheral vision. I remember how our world came crashing down on us the day we got the RP diagnosis. For six weeks, RP was the worst thing in the world.

She spoke to Andy Tincu and Bruce Vuillemenot, two talented scientists with BioMarin; they are working on a promising therapy for late infantile Batten disease.

It is apparent that science has made great progress since Taylor’s diagnosis nearly six years ago…and yet, there is much left to do. Rare diseases need more funding; they need the voice of the people. They have been overlooked for far too long. “Thank goodness for these scientists fighting a good fight to find therapies for patients with rare diseases – many of them children!” Mom writes.

Mom’s next words to me aren’t her last, but they’ve stuck with me more than the rest.

“I’m not fighting hard enough,” she says, calling out others as “incredible warriors who have made a difference. I’m humbled.”

I have an extraordinary amount of respect for all of the other warriors brave enough to wage this war on Batten disease and all rare diseases. I, too, am humbled.

But I have a difficult time letting my mother get by thinking she’s not fighting hard enough. She’s the greatest warrior I’ve ever known – a warrior willing to cross oceans and even galaxies for children – if only she had a spaceship.

Notes from London: Day One

Published: March 28, 2012 ~ 0

By Laura Edwards

Yesterday afternoon, Taylor’s Tale’s co-founder, current president and greatest embodiment of the word “believe” – my mom, Sharon King – took off from Charlotte bound for London, England – site of the 13th annual international conference on neuronal ceroid lipofuscinosis (Batten disease).

Transoceanic flights are never easy, but Mom’s proved to be especially draining. Our good friend and fellow board member, Callie, drove her to the airport around 1:30 p.m. EST Tuesday; this morning around 6:30 a.m. EST, my iPhone trilled the arrival of an early-morning email – Mom’s, announcing that she had at last arrived on the other side of the big pond after getting rerouted through our nation’s capital and suffering through a “totally forgettable” overnight sardine imitation in economy class.

Despite her rough night of “sleep” in a sardine can, though, Mom had a busy first day at the University of London’s Royal Holloway College. She quickly stumbled upon the first organizing meeting of the Batten Disease International Alliance. Though she hadn’t been aware of the meeting, the woman at the registration table “knew” Taylor’s Tale and urged Mom to attend the meeting.

Outside of the meeting, Mom also had the opportunity to catch up with some familiar faces.

The venue itself is wonderful – a very old, grand campus (in Mom’s words – kind of “Harry Potter-ish!”) coalesced with a modern conference center, all in an incredibly compact setting. The building was constructed in the 1800s as a women’s college and christened by Queen Victoria. There was a reception in a grand gallery filled with beautiful paintings. Mom commented that the conference is very well attended (sold out, in fact) and that 40-plus family members are expected to join the scientists (well, and hard-core family members like Mom!) on Friday.

More to come soon!

T’s Still Got It

Published: March 20, 2012 ~ 0

By Laura Edwards

Taylor doesn’t talk very much anymore…and when she does, she’ll often say the same things over and over. She’ll fixate on a word or a phrase and wear it out (some have a longer shelf life than others; for as long as my parents can remember, she’s greeted them each morning by saying, ‘Laura stinks!’).

My family has dinner together every Tuesday night; usually, we eat out. A few weeks ago, we met at the McAlister’s Deli near my parents’ house.

People will mention words or ideas in passing, and Taylor will store them away for later (though at the time, you’ll have no indication she’s even listening). The things she picks up on amaze me sometimes. Her mind is an incredible library of thoughts and memories with a faulty processor.

So we ate our sandwiches and soup, and T ate her macaroni and cheese, and we sat and talked for awhile. Later, after the sun sank behind the tree line and the tables around us emptied, my brother mentioned the time. We all stood to leave; Mom took Taylor’s arm and pulled her to her feet.

Right then, Taylor’s entire face lit up, and she said – quite enthusiastically – “Let’s go to Hooters!”

For the record, we didn’t go to Hooters. Mom and Dad took Taylor home. My brother headed back to the house he shares with three roommates, and my husband and I drove home to our dog. But we all had our comic relief for the night – and our every-so-often, unscheduled reminder that somewhere, under the dark veil of infantile Batten disease, the spunk we all love about T still lives.

Normally, Hooters wouldn’t make it onto my blog. It’d be censored on account of its…inappropriateness.

But in this case, we had ourselves a shining example of the old Taylor. And as long as T’s got it, I’ll write about it.

Magic

Published: March 11, 2012 ~ 0

By Laura Edwards

I was only 9 years old when Earvin “Magic” Johnson, the Lakers’ mercurial star, got a phone call. Magic, in Salt Lake City for a game with the Utah Jazz, was instructed to fly home immediately. Shortly after he returned to Los Angeles, he received the news that would change his life forever. Magic, just 30 years old, recently married and at the height of his playing career, had HIV – a disease with no known cure.

In The Announcement, an ESPN documentary that aired tonight, Magic remembered that day. How he wondered if he’d heard the words correctly. How he considered his basketball career. How he told his wife.

I was 24 years old, recently married and on top of the world, when I received a phone call that led me to drive home immediately. That day, my family received news that would change our lives forever. My sister, Taylor, just 7 years old, had infantile Batten disease – a disease with no known cure; a disease that is universally fatal.

No matter who you are, life can change in an instant.

More than 20 years after his diagnosis, Magic still has HIV. But he does not have AIDS. He has raised millions of dollars for HIV/AIDS research. He still has a family. His playing days are over, but he spends a lot of time in basketball arenas as a fan. And he looks healthy.

Magic’s status, of course, grants him access to the world’s best medicine and doctors. Nevertheless, he is living proof that HIV can be treated, even if it can’t be cured.

We may never have a cure for Batten disease, but there is a treatment out there. Something – a pill, an injection, a surgery – that could give children like Taylor prolonged, mostly normal lives. An enhanced version of the current cocktail of therapy sessions and symptom-controlling medications.

Magic Johnson has been fighting for 20 years and doesn’t seem to be slowing down anytime soon. I would give anything to have my little sister around for another 20 years.

But I know I can’t count on that.

So, I just have to keep fighting in the meantime – for her, but also for all of the future Taylors. Because we won’t be the last family to get a phone call.

My Greatest Achievement

Published: February 29, 2012 ~ 2

By Laura Edwards

In the spring of ’82, the Charlotte Observer ran a short article on my mom – who, at 24, had just been elected to lead the Junior Committee of the Charlotte Symphony Women’s Association and had her first baby – me.

The story almost didn’t happen; I had brain surgery when I was a few weeks old, and we spent a lot of time at the hospital. But the paper’s society columnist, the late Grace Hamrick, insisted. After rescheduling several times, she finally arrived at my parents’ house in the suburbs one day in April with a notepad and a camera.The Symphony’s Junior Committee, of course, would be just the first of many leadership posts for Mom. And Grace Hamrick’s visit to our house that spring day in ’82 would not be my last story with the paper.

Tomorrow is my 30th birthday – a day I’ve dreaded for nine years. At 21, I dreaded 30 because 30 sounded old. At 25, I dreaded 30 because 30 sounded like the right age to start having kids, and I couldn’t imagine taking that next step. And lately, I’ve dreaded 30 because I haven’t made it through quite as many of the items on my list of childhood/young adult dreams as I would have liked. These past few nights, I’ve climbed into bed and thought about the trips I haven’t taken (New Zealand, Alaska), or the novel I never finished (the first 180 pages have hibernated on my hard drive and several CDs for the past eight years) or the art that dwindled from childhood dreams of drawing for Disney to occasionally doodling on scratch paper during a meeting here and there, or the athletic career that could have been something more if I’d had the self-confidence in high school or been injured less often in high school, college and the years to follow.

When I get down, I try to remind myself that my family got dealt a crushing blow two short years after I finished school – hardly enough time to accomplish all of my lofty goals. That we didn’t sit back and allow Batten disease to destroy us without a fight. That I co-founded a non-profit organization that has raised more than $300,000 for the cause. That while my body didn’t let me go as far as I wanted in soccer, I turned myself – a natural sprinter – into a distance runner and spent the latter half of my 20s racing in my little sister’s honor. That while I haven’t finished my book, I became a storyteller for children like my little sister on a global scale. I try to remind myself that all of that is worth something; that we cannot always choose what happens to us in life, but we can choose how we act on it.

And, if that isn’t enough, I remind myself that children with infantile Batten disease don’t live to celebrate their 30th birthdays. That I’m not the only one with big dreams. And that if I can somehow help rewrite the rest of the story for future Taylors, that will be my greatest achievement.

No Dead Ends

Published: February 26, 2012 ~ 0

By Laura Edwards

Yesterday morning, I awoke to the sound of my alarm at 4:45, swung my legs to the side of the bed and braced for a shot of late February as my bare feet hit the hardwood floor in the silent, dark room. Ordinarily, I can’t bear the thought of rising before dawn. But I stood and walked to the kitchen without hitting the snooze button even once. I had a race to run for Taylor.

My husband, God love him, doesn’t understand this crazy race stuff but still dragged himself out of bed early enough to head to the race site with me and play on his iPhone in the relative warmth of his car for 70-some minutes while he waited for texted-in-stride instructions at mile marker nine to get to the finish line.

A few minutes after 7:30, I lined up with 333 other brave souls for the start of the first-ever Charlotte 10 Miler. I run the Tar Heel 10 Miler in Chapel Hill, NC on the campus of my alma mater every April, love it and couldn’t believe my luck when I learned that my hometown had gotten its own version of the wonderful but rare distance and – better yet – had chosen to put it almost in my own backyard.

At 7:55, the horn sounded.

Last year, I set a personal record (PR) for the 10-mile distance when I ran the Tar Heel 10 Miler in 1:24:00, finishing in the top 20 percent of the field.

Five days later, I injured my left Achilles tendon in a soccer game. I spent the next three months in a boot. Since then, I’ve run a grand total of one race – a 10K in the rural NC mountains last weekend. I missed last November’s Thunder Road Half Marathon for the first time in several years. Needless to say, I had no clue how I’d do in the Charlotte 10 Miler. And though the field was small, it was strong. My non-runner husband’s first words when we arrived were, “These people look serious.” So when I took off at the sound of the horn and let the cold air fill my lungs, I told myself I just wanted to run a respectable race in my little sister’s honor.

When I passed the first mile marker, the app on my phone announced my current pace – 8:35 per mile. I knew that put me close to my 2011 Tar Heel 10 Miler time (when I averaged 8:24 per mile) but didn’t think I could keep it up.

But even after I reached the halfway point, my pace held steady.

Around mile marker eight, the course cut through a neighborhood, rounded a bend and presented my fellow runners and me with the second-steepest hill I’ve ever encountered in a race (the steepest being Laurel Hill – a monster near the end of the Tar Heel race so notorious that it gets its own separate timing mats). And right then, my legs voted unanimously – without consulting me – to quit. Every muscle from my feet to my waist burned right down to my bones.

I thought about walking to the top of the hill. What harm could it do? With such a small field, I didn’t have to worry about the psychological tear-down effect of watching scads of runners pass me while I caught my second wind.

And then, just as quickly as the thought had entered my mind, it dissolved. In its place I saw a timeless image of my sister in her first 5K; falling, scraping her knees and palms; being given a chance to walk; gracefully turning it down; getting to her feet and finishing the race; running – not walking – across the finish line.

I ran up that hill, using my arms to propel my body when my legs refused. When I got to the top, I found my second wind. As I caught my breath, I sent my husband the promised text – “Get to the finish line!” – stowed my phone and picked up speed.

finish line

Taylor can’t run 5Ks anymore. But she is with me for every race I run. Never is that more apparent than when my body begins to fail me. I maintained a steady pace the entire race – except for the final mile. I ran mile 10 a full minute faster than any of the previous nine miles. I crossed the finish line at 1:26:10; I averaged an 8:37/mile pace, fell just two minutes short of my 2011 PR and beat half the field.

After the race, other runners talked about the hill that almost claimed me. Many thought it warranted a name, like the famed Laurel Hill. One runner suggested “Dead-endhaven Hill” (after a nearby street, Endhaven Lane).

My next race is seven weeks away, but my race to save children like Taylor from Batten disease never stops. The latter makes the Charlotte 10 Miler – even with a field chock-full of “serious runners” (in the words of my husband) – look like a walk in the park. But I know that I have to keep going – even on the days when the hills seem like insurmountable mountains.

Batten disease comes with a lot of pain. Our fight with this monster is far from easy. There will be many difficult days. But there are no dead ends.

Sweet Music

Published: February 22, 2012 ~ 0

By Laura Edwards

Sunday marked the end of the fourth annual piano playathon for Taylor’s Tale. Here are the numbers: 141 students of 18 teachers played at five venues for 18 hours total over three separate days. In all, the events raised $3,004.26.

Here are some memories gifted to us this year:

The addition of a Suzuki violin group – especially touching for Taylor’s mom, because Taylor took Suzuki violin lessons the year we learned she has infantile Batten disease
A 6-year-old boy played a small violin, and he and his younger sister sang the Spiderman song together; Mom and Taylor sing that song every morning when they brush their teeth (they don’t know why – they just do!)
The students ranged from very accomplished/experienced to brand new – i.e. one girl just two months removed from her first lesson, yet willing to step up and play (and do a fantastic job!) for children with Batten disease
The little sister of the former student who played sans butterflies – with so much joy, in fact, Mom thought they’d have to close the piano lid at the end of her turn
The students who remembered meeting Taylor last year (she did not attend this year) and went out of their way to ask how she is doing
The adult student who returned on the last day of the playathon, not to play, but simply to listen
The students (children) who agreed to do interviews with the media that came to cover the event – and nailed them
The student who entered a beauty pageant and chose Batten disease as her platform
The boy (probably Taylor’s age or not much older) who played the Journey song “Don’t Stop Believin'” and played it a second time just for Mom, because “believe” is her favorite word
The former (now grown) student and childhood cancer survivor who couldn’t attend the playathon but supported it from afar with a donation

Mom listening to music

Thank you to the event co-chairs, Polly Greene and Pamela Tsai, and all of the teachers for their amazing efforts on behalf of Taylor’s Tale.

Thank you also to the venues – Burrage Music Company, Hopper Piano Company, Music & Arts, Maus Piano and Organ and Ruggero Piano.

Finally, thank you to all of the students who played for using their musical gifts to give the gift of hope to children with Batten disease.