'Childhood Alzheimer's': The disease robbing kids of their memories
Three hours north of DC, in a picturesque Pennsylvania town, the sun is always shining for 22-year-old Christina Moister. Even when she’s suffering from a shiner.
“Oh my God, look at your eye,” said a shocked Barb Thomas, a jobs coach with Altech Services.
“I had to get five stitches,” said Christina, without a hint of self-pity. “It’s better than Friday.”
“I’m terrified of stitches, but I’ll get a tattoo,” said a co-worker of Christina’s at the bakery inside the Landis Supermarket.
“I’m terrified of tattoos, but I will get stitches,” shot back Christina, her mind quicker than one might expect.
This bakery is her sweet escape. The black eye a result of a bad fall, three days before. Loss of balance, a side effect of a disease that's known as "Childhood Alzheimer’s."
Those two words shouldn’t go together. It robs children of their memories, their balance, and their lives. Ten to 15 years after diagnosis, most children die.
Technically, the disease is called Niemann-Pick Type C1. It is a rare, fatal neurological disease. Approximately 500 children suffer from NPC. The scientists at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) have studied 100 of them.
Every two weeks, Christina’s mom drives her 180 miles south to the NICHD in Bethesda for a spinal tap and experimental drugs. There is no FDA-approved treatment for NPC.
“It’s a terrible disease,” said Sue Moister, quietly. She fights back tears. “It’s hard to stand by and watch children go through what they have to go through with this disease.”
The Moister family adopted Tina when she was 18 months old. Sue, a nurse then, worried that another family would fall in love with her cute face and sweet disposition, without taking seriously her diagnosis. She also worried that her other children would have to face what the future might not hold.
“The hardest part was knowing we may be losing a child,” said Sue. “Even harder, knowing that we could be putting our children through losing a sibling.”
But they loved her, and for the last two decades, her spirit and optimism have brought the family daily gifts.
“What do they tell you about Niemann Pick’s?” 7 On Your Side asked Tina.
“That I’m losing my memory. That it’s getting worse,” she responded.
“What does that mean for you?”
“That it’s awesome. Because I will always have to live with my family. And if they can take care of me, I can take care of them,” Christina explained.
When Tina comes to NIH, she stays on campus at the Children’s Inn, a private nonprofit that must raise funds to provide free lodging to children and families who are participating in clinical trials at the NIH. There is a stone fireplace that warms the entryway. Bingo to keep the kids minds off of reason they are there. And Georgetown cupcakes.
“Here, Dr. Porter,” said Christina as she hands the clinical director at NICHD a chocolate chip cookie. “From my bakery.”
Christina hugs him and all the staff in the clinic as they prep her for the spinal tap. Our cameras are not allowed into that part of Christina’s regime. Apparently, she doesn’t tolerate the unpleasant experience all that well. But you wouldn’t know that talking to Christina.
“They lift my spirits every time I see them. So I wanted to lift their spirits.” Hence, the cookies hand-delivered from her bakery.
“NPC patients are so special,” said Dr. Forbes Porter. “They are so responsive. They give so much feedback.”
Sue Moister can’t talk about Dr. Porter without crying. They are tears of gratitude. He spends time with his patients, never rushes them. He answers questions without sugar-coating them.
“Cures are rare,” Dr. Porter told 7 On Your Side. “Our data is suggestive we’ve been able to slow it. My next question is what do we put with it.”
In August, the drug they’re investigating, 2-hydroxypropyl-beta-cyclodextrin, cyclo for short, showed promise in lab animals, extending their lives. The FDA has given it breakthrough status and an expedited review.
“When she was two years old, Tina’s mother was told she was told she wouldn’t live past five. Now she’s 22,” said 7 On Your Side Consumer Investigator Kimberly Suiters.
“So, predicting the future can be hard,” said Dr. Porter. Christina has already outlived her predicted lifespan.
“At 7 On Your Side, we try to advocate for people,” said Suiters. “Would you like us to nudge the FDA?”
“We’ll take any help we can get,” Dr. Porter said with a smile.
Christina has already outlived her lifespan. But Dr. Porter said she is on that terrible track that robs children of adulthood. Children, like 14-year-old Dillon Papier.
“We hope our son’s trials and procedures paved the way for something,” said Mark Papier, choking back tears. “That he didn’t go through this in vain.”
Like Christina, the community around Dillon in Frederick, Maryland, fell in love with his love of people.
“He never complained,” said Dillon’s mom, Darrile. “Always a smile.”
“He was like a movie star at school,” said Mark, his dad. “The school counselor said she could barely get Dillon to class because everyone wanted to high-five him.
Even on the baseball diamond, other teams knew about the kid with the smile. The kid who could hit but would probably fall. One game, the opposing team overthrew each base so that Dillon would know what an in-the-park home run felt like.
On top of NPC, Dillon also battled cancer. But he persevered right up until his last day.
“He woke up, he threw up, and he said take me to school,” said Mark.
“They took pictures for the yearbook. They were laughing, eating pizza. It was a normal day,” said Darrile.
And then that very night in April 2017, Dillon went into a coma, and never woke up.
“He was my role model,” said Mark. “He left a legacy. Enjoy life. Enjoy life.”
When Dr. Porter published his report on cyclo four months later, he did something scientists rarely do. On the very last page, he revealed what was on his heart.
”To Dillon,” he wrote, “a kid who showed us how to live life in spite of a devastating disease.”
The Papiers have raised $800,000 to fund the research that may buy time for other children.
“My friend Ty gave me this shirt,” Christina told 7 On Your Side. She’s wearing a bright tie-dye shirt with the image of a turtle below the words BE DETERMINED on the back, and on the front, PERSEVERE. It’s the motto of the National Niemann-Pick Foundation.
“He passed away this year,” she added.
“What did he pass away from?” 7 On Your Side asked.
Christina has forgotten. So she asks her mom.
“Niemann Pick,” Christina repeats.
“Does that worry you, knowing you had a friend who died from this disease?”
“A little bit. But I know where I’m going,” she answers.
“And where are you going?”
“Heaven. I can’t wait to go to heaven. And go away from this brutal place.”
Christina clarifies that by “brutal place,” she means earth in general. Not the Children’s Inn, not NIH, not her bakery, not her home. All of that, she says, makes her very, very happy.
As her mother points out, it’s a quite a gift given the disease she has.