Battling Batten Disease

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Laura and Taylor

Laura and Taylor

Last week’s blog post was about a little girl who had a genetic disease that usually strikes adults. This week’s post is about a teen who has an “infantile” variety of a different neurological genetic disease.

8 GENES BEHIND BATTEN DISEASE

Taylor King, of Charlotte, North Carolina, has Batten disease. Although she was diagnosed at age 8, her genes indicate that she has CLN1, aka ceroid lipofuscinosis, neuronal type 1 – which usually begins in babies.

Unlike Huntington’s disease from last week, which is one distinctive condition with an unmistakable mutation, Batten disease comes in 8 types, corresponding to 8 genes. All 8 forms of Batten disease affect, overall, only 2-4 births per 100,000 in the US, making it a “zebra” rare disease.

The Batten diseases are classic lysosomal storage diseases, in which scant or missing enzymes cause compounds to build up, like cellular garbage collectors going on strike. “Taylor happens to be an anomaly. Most people assume she has juvenile Batten because of her age — she’s almost 15 — but she has infantile, for which the normal life expectancy is around 2-5 years. Taylor produces a small amount of the PPT1 enzyme , linked to the CLN1 gene, so her symptoms didn’t start until later,” explains her sister Laura King Edwards, who started Taylor’s Tale.com to raise funds for Batten disease research.

TREATMENTS TRIED

Children with Batten disease suffer visual loss, seizures, and progressive dementia as their brains drown in a biochemical buildup. I first wrote about it in the circa 2006 version of my human genetics textbook — specifically, Nathan and PJ Milto, from Indiana, who had experimental gene therapy for the “late infantile” form of Batten, aka CLN2. They received gene therapy directly to their brains, which Ron Crystal’s group at Weill Cornell Medical College has been pursuing for many years. When I heard from their father while writing my gene therapy book in 2010, the boys were in their late teens.

Other treatments for Batten disease have been tried. A drug called Cystagon
is being tested at the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and an anti-transplant-rejection drug called CellCept is being repurposed in a clinical trial at the University of Rochester.

A trial of  neural stem cells taken from human fetuses hit the skids when a 9-year-old girl in the trial died, but her death was attributed to the disease. Another contender that mixes  placental stem cells and cord blood is being tried on 16 inborn errors of metabolism at New York Medical College.

Most exciting is the Global Gene Transfer for Batten Disease CLN1 and CLN2 trial being planned at the  Gene Therapy Center at the University of North Carolina. Steven Gray will deliver the healing genes into the spinal fluid, an approach that he is pioneering for giant axonal neuropathy, covered here 3 posts ago.

AN UNFORGETTABLE TRIP TO DISNEY WORLD

Gene therapy, drugs new and old, and stem cells are all great approaches. Also effective is a visit to Disney World. And so I turn this week’s post over to Laura King Edwards, reprinted from her blog “Write the Happy Ending”:

“My sister, Taylor, was diagnosed with infantile Batten disease on a blistering summer day in 2006, just 26 days before her eighth birthday. I wasn’t in the room with Mom and Dad when they received the news, but I’ll never forget the geneticist’s words to them:

Parents of zebras -- rare diseases -- were once often discouraged from taking action.

Parents of children who are zebras — people with rare diseases — were once often discouraged from taking action. (NIH)

“Take her home and love her. Make happy memories together. That’s all you can do.”

In the worst hour of our lives, we learned that my bright-eyed, golden-haired, intelligent sister – a second grader who loved to sing and dance and run and play – would go blind, have seizures, and lose the ability to walk, talk, and swallow food. She would deteriorate … confined to a wheelchair. She would have to have a feeding tube. Eventually, she would die – blind, bedridden, and unable to communicate.
For a long time, we refused to condemn Taylor to the horrible fate encoded in her genes. We vowed to fight like hell for my sister – and in the process, for others like her. We never questioned the need to make happy memories with my little sister – we watched the lights of those once-bright eyes fade a little more with each passing month – but we knew that wasn’t ALL we could do.

On December 7, 2006, Taylor, my husband, and my grandparents climbed into my Ford Explorer in our driveway in Charlotte. I loaded a Harry Potter audio book into the CD player and pointed the SUV south for Orlando, FL, where my parents were wrapping up a crash course on lysosomal storage disorders at their first research conference and my sister’s dream of seeing Cinderella’s castle and meeting all of the Disney princesses awaited.

At the end of our 600-mile journey, we pulled into Disney’s Port Orleans Resort and collapsed into our beds. The very next morning, we had breakfast with the princesses inside Epcot Theme Park. Taylor collected all of the royals’ autographs inside a pink and purple autograph book and smiled whenever the princesses hugged her and crouched down to whisper secrets. She marveled at the giant Christmas tree and climbed to the very top of Peter Pan’s tree house.

In the Magic Kingdom, she clapped to the “thump” of the music at the daytime parades and squealed on the peaks and valleys of Space Mountain and Thunder Mountain. She sat on Santa’s lap and asked for reasonable gifts, like new Disney DVDs and pink hula hoops. She called out the colors of the Christmas lights that decorated the floats of the nighttime parade and lifted her face up to the fireworks that painted the sky over Cinderella’s castle.

We packed a lifetime of memories into those two days. We walked the enchanted sidewalks as anonymously as the thousands of other faces there to enjoy their wonders. We made that time ours – and Taylor’s.

Today is “World Wish Day;” it marks the day that the first child received his wish to be a police officer for a day, inspiring the founding of the Make-A-Wish® Foundation. The Make-A-Wish website states that it has fulfilled the wishes of more than 300,000 children with a life-threatening medical condition.

My sister isn’t among them.

I think that Make-A-Wish is an incredible organization and know that they have brought happiness to many children and families. It just wasn’t for us. Perhaps if we’d called the team at Make-A-Wish when we decided to take Taylor to Disney World in 2006, we could have stayed for longer than two days. Maybe we could have dined with Cinderella in her castle instead of the cute Norwegian banquet hall in Epcot. Maybe we could have stayed at the Polynesian instead of the Port Orleans. But while we all knew, deep inside, that we threw the trip together when we did to give Taylor a chance to see Disney while she still could, for those two days, Batten disease was out of our minds – at least as much as was humanly possible. For two days, we were just a family that loved each other, a family on the trip of our lives.

On our second and last night, we stayed in the park long after the last Christmas parade float disappeared around the bend and the last firework sparkled and died over the gleaming turrets of Cinderella’s castle. Just before the park gates closed, we took Taylor back to her favorite ride, Aladdin’s Magic Carpet.

taylor 1As the attendant invited my sister and me into the circular ride to select our magic carpet, Aladdin and Jasmine appeared at the gate. My sister stopped in her tracks. She stared at the two characters, spellbound. She’d seen them – or other actors in the costumes – numerous times in the parks over the past two days – but this was different. Aladdin and Jasmine were there to ride their magic carpet ride, and we were the only other visitors in sight.

I watched as the two bent down to hug Taylor and invited her to ride with them. My sister could only nod and take Aladdin’s hand as he led her to one of the magic carpet cars. And for the next 10 minutes, the attendant let my sister and me ride that magic carpet with the prince and princess, over and over again, as “A Whole New World” played in the background. When our dream ride came to an end, the valiant prince gave my sister a kiss on the cheek.

If we were to go to Disney World today, my beautiful, sweet sister would not be able to see any of its wonders or walk its paths without a lot of assistance. She’d get tired. We’d have to make frequent medication stops. She might smile for the camera, but she wouldn’t know where to look. She couldn’t sing along to her favorite songs or ask her favorite princesses for autographs.

We still haven’t called Make-A-Wish. But on one enchanted evening, my sister and I rode a magic carpet to the stars. Nothing – including Batten disease – can take that away from us.”

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One Response to Battling Batten Disease

  1. Alanna Gayko says:

    Dear Ricki, your story on Taylor was informative and understandable to the ‘lay’ person. She is an exception to the usual early fate of a child with infantile Batten disease. I loved their story visiting Disney World and the memories they must hold dear from that trip together.
    I am a Registered Nurse in Australia who has been trying to increase awareness of Batten disease since 2000 after meeting a little boy Jordan Anderson with Late Infantile. If you are able to google some of the things we are doing to help raise awareness it would be appreciated, especially if there are any of your bloggers with an interest in motorcycles. Kind regards Alanna Gayko

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