For Patients and Their Families, CLN1 Disease is a Daily Struggle

By Lillis Hendrickson

It’s 10 a.m. on a Saturday morning, but Kyleen Douglas has been up since 6 a.m. the day before. Her daughter, Kailyn, 8, hasn’t slept either. Kailyn has CLN1 disease (Batten disease). When she was first diagnosed two years ago, she didn’t have any mobility or vision issues, but her symptoms progressed, including loss of speech and motor function and sleep disruption.

Kailyn Douglas and family
Kailyn Douglas (center) has CLN1 disease.

“The day isn’t carefree anymore,” Kyleen said. “Between worrying about getting Kailyn to school or physical therapy, tracking her moods and her sleep, making sure she’s taken her medicine, watching her to see if that stare is a normal stare or a silent seizure, there isn’t a moment to breathe or be calm.”

Joe Coyne’s son Garrett, 9, also suffers from CLN1 disease. Diagnosed at age 4, Garrett now requires constant care.

“It’s not easy,” Joe said. “Twenty-four-hour care is 24-hour care. We get up early with Garrett, change and feed him. We move him from an activity chair to a wheelchair, and eventually get him to school for a few hours. One of us has to be home when he gets out, and then we change him and feed him. Nancy and I rotate nights sleeping with Garrett to monitor if his feeding tube comes out or if he’s struggling to sleep.”

Coyne family
Father Joe Coyne says Garrett (center) requires 24-hour care.

Kailyn and Garrett have aides who visit during the week, giving their parents and siblings a chance to take a break, grab groceries, clean or spend time with their other children.

“We have an aide who comes a few days a week for just a couple of hours, but it gives me a chance to sit with Keeleigh and do homework or run out for an errand,” Kyleen said.

“I never understood why families with disabilities disappear, but the difficulties of traveling or even just getting out in the community can be overwhelming,” Joe echoed. “Trying to leave the house for the grocery store isn’t a quick trip anymore.”

Both Joe and Kyleen feel the same way: exhausted. Not only do they spend most of their time caring for their children, they have the added pressure of trying to keep ahead of CLN1 disease as it progresses. Without a clear roadmap, they’re left to deal with problems as they arise, searching for the appropriate specialist, therapist or piece of equipment. They say a clinical care strategy could change that.

“A lot of people I interact with say, ‘I don’t know how you do it.’ But what else would I do?” Kyleen said. “You either give up, or you figure it out. Having a care strategy would not have given us any time back, but it would have changed how we spent that time — with Kailyn.”

“Having a care strategy would relieve a massive amount of stress,” Joe said. “Sometimes it can take months to resolve an issue, but if we knew how to address things before they arose, it would help. It would give you best practices, talking points with your doctor, so that you could spend less time researching and more time focusing on the things that are important, like your kid and your family. You can try to have as normal of an unnormal family as you’ll ever have.”

Currently, no such resource exists, leaving families like Joe’s and Kyleen’s to search the internet for limited, disheartening information. Dr. Susan Shaffner, a general pediatrician in Charlotte, North Carolina, supports the development of protocols for doctors, patients and families for CLN1 disease and other rare diseases.

“Forming care strategies is so important for patients, parents and physicians,” Shaffner said. “Right now, it’s a matter of seeking out a specialist as issues arise, which isn’t proactive and can be time-consuming for doctors and parents. With other common disorders, there is a protocol, a template you go through — you get tests at certain ages or milestones, you can go to multidisciplinary clinics to see all of your specialists in one place. This is what we need to see for rare diseases as well, especially those like Batten.”

In May, Taylor’s Tale brought together a multidisciplinary team from around the globe to discuss clinical care strategies for CLN1 disease. Arming doctors and parents with information and actionable steps can drive lasting change over time for families like the Douglases and the Coynes. Stay tuned for more.

BDSRA Conference Reflections: Writing a Better Story for Children With Batten Disease

By Nicole McEwen

In July, I had the amazing opportunity to go to the Batten Disease Support and Research Association (BDSRA) annual conference, attended by affected families, clinical experts, members of industry, researchers and others. Families come for support and to learn more about the fight against Batten disease and resources for their children. For many families, the conference also serves as their yearly vacation, as they are allowed to bring their children who have Batten disease, as well as their siblings. Experts come to teach, gather data and promote their work.

This year’s conference was a neat opportunity for Taylor’s Tale, as Vice President Laura King Edwards got to speak about her upcoming book and blindfolded half marathon, while she and President Sharon King also networked with key contacts to continue advancing Taylor’s Tale’s important work in research and rare disease advocacy.

So, what was my role in all this?

In addition to supporting Laura, Sharon and Taylor’s Tale, I primarily helped BDSRA with childcare, both for healthy siblings and affected children. I could never quite decide how I felt about the term “affected.” On one hand, it’s true: Batten disease has affected these children, chipping away at some of them so much that it’s difficult to see past their illness. But to me, this word also seems to diminish them, taking away from the fact that they are real people and, in most cases, still kids that have thoughts and feelings, even if they aren’t always expressed in the traditional way.

Regardless of labels, I loved working with those who have Batten disease. We had fun doing a variety of activities, and some of them were so creative that they taught me another way of looking at the world. They came up with new ways to play, or they showed bravery as they barreled through the cluttered room, even though they couldn’t quite see everything. And if they fell down, they got right back up and kept playing.

I connected with siblings, too. Siblings as young as 6 can come on these group outings to fun places. The thing I really liked about this program was that some of the older siblings were in charge of how it ran and where the kids went. I got put in charge of five 6-to-9-year-olds for a trip to the Nashville Zoo.

These were the best behaved 6-to-9-year-olds I have ever encountered. On the bus, we mostly talked about their siblings and why I was coming along. It was really neat for me, as a future Child Life Specialist, to hear what it was like to have a sibling with Batten disease. Since the disease is genetic, each of siblings had also gone through testing to see if they would eventually become affected. It was awesome to hear these kids be so vulnerable: how affectionate they are toward their siblings, but also how scared they were to be tested.

Some of these siblings and their parents were at the conference for the first time, and I couldn’t help but think back to the “affected kids” session, and how hard it must be for families to see their future in that room. Some newly diagnosed kids seemed normal, other than the fact that they had to hold toys right up to their face or ask what they were touching. Others were already using wheelchairs, couldn’t speak and ate through feeding tubes. I could only imagine what it would feel like to recognize that that is what is coming for my sibling or child.

During our time at the zoo, the siblings wanted to see every animal, and we ran through the exhibits to make it back in time for dinner. At the end of the day, the zoo closed down so that we could ride the rides without any lines. This was a fun and special experience for the siblings. My group did everything, even if they were scared, because they live with an example of how to conquer fear every day.

The affected kids had music therapy the following day, and that was something else! In a lot of ways, music can reach everyone, because whether you are moving and dancing to it, singing or just listening, it brings a smile or at least ease of familiarity. Music is everywhere, from commercials and elevators to the grocery store. People use music to get pumped up to run or excited to buy something or able to cry after a breakup.

The music therapist working with the group understood the power of music and left an instrument on everyone’s seat but also encouraged them to move or sing if they wanted. She took requests that ranged from Frozen and Moana to Happy by Pharrell. We sang popular new songs and old songs and danced around the whole room. One girl sang as if she was in an opera the whole time. And the best part? These children, and some adults, were allowed to just let loose and be however they needed to be in that moment.

The BDSRA conference always includes a banquet dinner on Saturday night. The affected children are escorted in by siblings or other volunteers as they are announced by an emcee.

I  wasn’t sure how I felt about this event and struggled with mixed emotions until I was in the middle of it. I had the honor of pushing the wheelchair of an older boy with Batten disease. I managed to get him in the room and lined up with the others on the dance floor before I really looked around. I had been fine when I was just in a room with the affected kids or out with the healthy siblings, but something about seeing these family members side by side, recognizing the love and the loss on each of the kids’ faces (not to mention those of their parents), will stay with me forever.

To my right, one of the older siblings had tears streaming down his face. His sister was probably in her 20s and in a wheelchair in front of him. In that moment, I recognized that he knew what was in store for her, and that there was nothing he could do about it. It took everything I had to hold back the rushing waves of water that wanted to explode down my face. I hurt for every single family in that room at that moment. It was the kind of pain that did not, and probably will not, go away.

The Sibling Dollar dance brought sweet relief after the kids went back to their families and everyone ate dinner. During this annual dance, people donate money to dance with the siblings. I didn’t have high expectations, as it felt like a lot of people in the room were families, but sure enough, most people brought up at least one dollar. In fact, the siblings raised more than $2,000 in the span of a few songs. Even better? Those from my outing group didn’t leave the dance floor. Instead, they kept dancing and smiling and encouraging their families to dance with them. They requested songs, and their parents recorded them. Some parents jumped in on the slow songs and swayed like it was the first time they had held each other in a long time.

There was such beauty and calm in those moments, and finally, I had to go back to my room and sit with my thoughts for a bit. Emotions like those I felt at the BDSRA conference are what will keep me employed on my journey as a Child Life Specialist. Sitting in my empty room after the dance on the final night, I understood my own greatest lesson from the conference: from the creativity and strength of the affected kids, to the energy and perseverance of their siblings, to my own pain of knowing what families will go through as they all stand together, I understand more clearly than ever that all kids and families touched by Batten disease deserve a better story, and we need to do something about it.

6 Ways to Turn Tragedy into Opportunity

By Laura King Edwards

My mother never really liked the word ‘hope.’ “Hope feels empty,” she said one day early in my sister’s fight against Batten disease. “Hope is waiting for someone else to make your life better.”

Instead, we built our mantra on the word ‘believe’ — which sounds a lot like ‘hope’ but really isn’t the same thing at all. And for 10 years, our belief drove us in our relentless effort to beat the rare brain disease killing Taylor. Viewed one way, it worked: we championed many research initiatives, including a novel gene therapy approach that sick kids could receive in a clinical trial starting in 2018. We could quit now knowing we achieved our original goal — produce a potentially lifesaving treatment for infantile Batten disease.

But there is a next chapter to Taylor’s Tale. That’s the message we shared at an event this month celebrating our 10th anniversary and the friends and donors who support our work. And that night, as I listened to our keynote speaker, Dr. David Fajgenbaum, I thought about the role hope will play in the coming days and months and years.

David knows a little something about hope. Once a star athlete known to his friends as the Beast, he was diagnosed with a deadly illness called Castleman disease during medical school in 2010. He’s alive today because of his single-minded mission to take on his own disease.

Despite Mom’s initial disdain for the word, hope is crucial in the fight to save people like David and my sister, Taylor. Hope is necessary to overcome any kind of struggle, no matter the severity or scale.

But hope alone is not enough.

If you really want to turn tragedy into opportunity, do these six things:

  1. Have hope. Hopelessness sounds the death knell for any battle, no matter the circumstances. If you don’t have hope, you won’t succeed. It’s that simple.
  2. When hope is not enough, turn hope into action. When the stakes are high and the road leads uphill, hope isn’t enough. Hope is easy. Acting on hope takes more effort. You can wait for something good to happen. You might even get lucky — the first time. But the good won’t last. If you want to create real, tangible, measurable change, you have to act on that hope. You have to do something.
  3. Be willing to make sacrifices. If you want to win the toughest battles, you have to be willing to make sacrifices — whether those sacrifices take the shape of time, money, or other interests or goals. You won’t create the kind of change you want to see on 50 percent effort.
  4. Play through overtime. In his keynote address, David talked about the multiple relapses of his disease since 2010. Each time, he came close to death, even receiving his last rites. But each time, he bounced back. David came to see his life after these relapses as overtime periods, which only fueled his passion to find a treatment for Castleman disease. And, he argues, we’re all in overtime, because tomorrow is never a guarantee. Approach every day like you’re playing through overtime, because every day is a gift.
  5. Stay positive. This is something I’ve personally struggled to do in the 10 years since my sister’s Batten disease diagnosis. It’s hard to have a positive outlook when it feels like the world is crashing down all around you. But I’ve realized life is a lot more pleasant when I focus on the aspects of my life that are good. And that gives me the strength to fight all the stuff that’s bad.
  6. Believe in possible. Doctors didn’t think David would survive Castleman disease. And people questioned the likelihood that a tiny, all-volunteer team could tackle Batten disease — a monster that eluded science and medicine for more than 100 years. Norwegian explorer, scientist and politician Fridtjof Nansen once said, “The difficult is what takes a little time; the impossible is what takes a little longer.” Today David is in his fifth overtime —at 45.45 months, his longest remission since 2010. And Taylor’s Tale needed 10 years to accomplish what most saw as a stretch goal that bordered on impossibility.

It didn’t take long for Mom to warm up to hope. Today, she likes to say that hope comes in different boxes — different shapes and sizes, but always a gift. And while the change Taylor’s Tale helped create came too late for Taylor, the hope is real. Real treatments for real people, coming to life at a rapid pace. And yet, our work is far from done.

In the coming days and weeks, we’ll share more details about a central theme of our next chapter — the development of a care management plan to address the needs of patients suffering from infantile Batten disease right now. This plan will provide a lifeline for desperately ill children and their families. I’m excited to bring more big and worthy ideas to reality, and I hope you’ll join us for the ride.

Global Genes Summit Unites Rare Disease Voices

By Judy Mayer

You might assume that a summit dedicated to rare disease would be a negative experience, perhaps even bordering on tragic. You would be wrong.

The Global Genes RARE Patient Advocacy Summit held in Huntington Beach, California, on September 24-25 illustrates the positive energy that defines the rare disease community. Some people showed up in wheelchairs, while others had masks across their mouths and noses. One teenage girl brought her service dog, and one woman brought her oxygen tank.

While rare diseases create a seemingly endless variety of challenges, the summit participants all share the determination to help others and to leave no stone unturned to improve the lives of rare disease patients.  continue reading →

When Graduation Gets Canceled

By Laura King Edwards

If things were different, we’d be celebrating my sister’s high school graduation next week.

I’ve thought a lot about how Taylor’s life would look if she hadn’t been born with Batten disease. I’ve tried to hold onto the days when she taught herself to read before all of her classmates and earned straight As in school and memorized all of the words to her favorite songs. I’ve listened to her voice in my head, because I can’t hear it in real life anymore. continue reading →

Battling Rare Disease Every Day of the Year

By Laura King Edwards

Today is Rare Disease Day, a worldwide movement to raise awareness about rare diseases and their impact on patients’ lives. The effort targets the general public but also decision-makers such as policy makers and health professionals and biotech industry leaders.

I worked on the marketing communications team for a large, integrated health system for eight years. Early in my career, my mentor taught me not to focus too much energy on health awareness months, weeks and days at the expense of more strategic efforts. She said only a few of these movements really resonate with the general public, like Wear Red Day (always the first Friday in February), Heart Month, Stroke Month and Breast Cancer Awareness Month. continue reading →

Nine Things I Learned from My Sister

By Laura King Edwards

Some days, it’s hard for me to believe that almost 10 years have passed since Taylor’s diagnosis. More often than not, though, I struggle to remember a world unmarred by Batten disease. But my little sister is a tough cookie, and she’s still fighting the monster. Along the way, she’s redefined “possible” and taught me a lot of what I know about the world.

Here are nine lessons I’ve learned from the sister I didn’t know I needed.  continue reading →

What Batten Disease Stole

By Laura King Edwards

If my sister didn’t have Batten disease, she would be a senior in high school this year.

But Taylor isn’t a senior. She isn’t taking classes, and her only extracurricular activity is physical therapy. She doesn’t have her driver’s license, and she won’t go to prom. continue reading →

Thanksgiving Without Food

By Laura King Edwards

I’ve been in frequent touch with my friend, Ricki Lewis, since leaving a comment on her DNA Science blog nearly three years ago. Ricki, a science writer with a PhD in genetics and author of The Forever Fix: Gene Therapy and the Boy Who Saved It, has written about Taylor’s Tale and our fight against Batten disease many times. She supported me while I wrote my memoir, Run to the Light, serving as an early reader. Ricki and I have never met in person, but after reading my book, she knows more about my family and me than most people.

This week, Ricki emailed me to ask about my recent trip to a writers’ conference in Asheville, North Carolina, and to wish my family a happy Thanksgiving. “I wish Taylor could taste the food,” Ricki said. “But she can smell, right?” continue reading →