On Saturday, May 10, 2008, 1000 friends and family joined us for a sold out star-filled night at the new Downtown Reno Ballroom to help find a cure to “Childhood Alzheimer’s” (Niemann-Pick Type C), a rare, progressive and fatal neurological disease that is robbing children of all ages around the world of their ability to walk, talk, or even remember the name of their favorite stuffed animal.

The event was a mystical evening of hope, wonder and childhood dreams as we honored our four-year-old twins, Addi and Cassi Hempel, and children all over the world who suffer from Niemann Pick Tyep C. Our guests will be treated to an elegant evening with a celebrity performance by Meilnda Doolittle and Terry Fator. We held silent and live auctions, uplifting music in this enchanting atmosphere and transformed the ballroom into a beautiful moonlit garden, designed in the spirit of a child’s imagination, with tree-lined paths, twinkle lights, fireflies and a fountain of wishes.

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Alzheimers Touches Kids

November 18, 2007 by Daddy
Filed under NPC Family Stories

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USA TODAY, May 2006 By Kathleen Fackelmann

Jessica Leoni has a disease that resembles Alzheimer’s.

But she’s nowhere near 65, the age at which the risk of dementia starts to zoom.

She’s just 8 years old. Up until last year she led a typical kid’s life, complete with ballet recitals, birthday parties and lots of friends. On Memorial Day weekend, that life came to a crashing halt as Jessie suffered the first of many seizures that would rack her small body.

"Our life changed overnight," says Jessica’s mother, Lisa.

Lisa and her husband, Anthony Leoni, had never heard of Niemann-Pick Type C, or NPC, before Jessica, or Jessie, was diagnosed with the disease. They now know that kids with NPC lose their ability to walk, talk or even to remember the name of a favorite stuffed animal.

And they know the incurable disease, which afflicts about 500 children in the USA, has been called the pediatric version of Alzheimer’s, a disease that afflicts 4.5 million people — most of them seniors — in the nation today.

Researchers, many of them financed by the Ara Parseghian Medical Research Foundation, are racing to find treatments that would help kids such as Jessie. "The goal of the Foundation is to find a cure," says Cindy Parseghian, the daughter-in-law of legendary Notre Dame football coach Ara Parseghian.

Cindy, along with her husband and father-in-law, started the foundation in 1994 after three of her four children had been diagnosed with NPC. Today all three of the Parseghian children with NPC have died, yet Cindy continues her fight, a fight that might also help people with Alzheimer’s.

Alzheimer’s is thought to be caused by abnormal brain deposits, almost identical to the deposits seen in children with NPC, says NPC researcher Steven Walkley of the Albert Einstein College of Medicine in the Bronx. Children who live long enough with NPC also can develop dementia, he says.

"A lot of us think that if we could really understand NPC, maybe it would help us understand Alzheimer’s," he says.

For the Leoni family, however, the daily reality comes down to a fight to keep their only daughter alive.

A race against time

"She’s down to three to five seizures a day," Lisa Leoni says. That’s an improvement. Since last May, Jessie has been hospitalized four times and sometimes she has had as many as 25 seizures in a single day.

But on this rainy day in Los Angeles, Jessie is getting physical therapy, which won’t stop the seizures or even slow the underlying disease. The goal of physical therapy is simply to rebuild muscle strength and flexibility.

She’s in a room decorated with stuffed animals, Minnie Mouse and the memorabilia of a life that up until a year ago included ballet and tap dance lessons.

Jessie still hasn’t developed dementia, but the disease already has damaged her brain and robbed her of abilities that most children take for granted. Jessie can’t stand on her own anymore, so the physical therapist gently supports her as she stands up and grins —looking every bit the budding ballerina she was a year ago.

"She’s a ham," Lisa Leoni says. Leoni hopes the physical therapy will hold the line on Jessie’s decline until doctors find the right combination of drugs that will ease the seizures for good.

But the Leoni family faces a race against time. Even if doctors stop the seizures, no one really knows how much damage the underlying disease has done.

"Our hope is that the disease isn’t progressing in ways that we can’t see," Anthony Leoni says.

The disease is a progressive disorder of cholesterol metabolism, says Marc Patterson, a pediatric neurologist at Columbia University in New York. A genetic flaw causes fatty substances such as cholesterol to build up in cells, including brain cells. As cells get clogged with fat, damage occurs, which leads to symptoms of the disease, such as difficulty walking and talking, and sometimes seizures.

"There is no effective therapy at the moment," Patterson says.

NPC is caused by a mutation in a gene on chromosome 18. Children with the disease have inherited two copies of the abnormal gene. They often appear healthy at birth and only later start to develop serious symptoms.

Faith and fear

At the Leoni family home, Jessie is walking slowly across the living room, which is bathed in muted light. A framed photo on the wall behind her shows Jessie as a cherub of a baby with the dark, curly hair of her Italian-Irish ancestry.

Jessie’s parents had no idea of the ordeal that stretched before them when she was born.

The first sign of something amiss was just a slightly enlarged liver when Jessie was just 2 months old. Then, in December 1997, Jessica was hospitalized for tests. More tests, including a genetic test for NPC, followed.

The Leoni couple had their first Christmas at home with their baby daughter. Just a few months later, in April 1998, they got the news that would change their life.

As the news sunk in, Lisa Leoni remembers numbness first, followed by fear. Then, for days after that, she turned to the only thing she knew that would sustain her.

"I just kept praying to God: ‘Don’t take my baby away.’ "

What followed was a period during which Jessica looked normal but developed slowly. She walked and talked and went to kindergarten. But for the Leonis, the joy that came with those milestones was tinged with the knowledge that at any moment the disease might really kick in.

"Sometimes I wondered why we needed to know," Lisa Leoni says now. "We lived in fear."

That fear was grounded in reality: Jessie had to repeat first grade because she had fallen behind in her schoolwork. And by December 2004, Jessie had started to falter in ballet class.

"Her last recital I could tell the difference," Lisa Leoni says. "She knew every step, but her timing was off."

Living for the moment

In April 2005, Jessica made her first communion, and a photo of that event appears to show a healthy 7-year-old with a toothy grin. Her father’s hand rests protectively on Jessica’s shoulder.

But the disease was silently damaging her brain and other organs. A month later, the disease exploded in the form of a grand mal seizure. That day Jessie crossed the line from a relatively normal childhood to a life marked by a progressive illness.

Almost a year has gone by:

• Jessie can no longer walk without help.

• She must be fed baby formula through a tube.

• Instead of going off to school this past fall, Jessica stayed behind — mostly living her life on the couch. A poster of her classmates, now in the second grade, hangs on the wall nearby.

Jessie, who can no longer talk, communicates by blinking her eyes and smiling. But Lisa Leoni knows the disease eventually will take away her daughter’s ability to understand. "The idea that she will lose her mind — that is unbearable to me," she says.

The couple still holds out hope that medical advances will buy their daughter more time. They know that a drug, Zavesca — used to treat Gaucher’s disease, a rare, genetic disorder — has been shown to significantly delay NPC in mice.

Recently Marc Patterson’s team tested the drug, which is made by Actelion Pharmaceuticals, in a small number of people, including children with the disease. The drug appeared to slow the disease, Patterson says, adding that even a delay would be a big deal for such children.

Still, Jessie’s parents know that Zavesca might not pan out. "You start to get hopeful, but then you realize how slow the research is," Lisa Leoni says.

So for today she’s not banking on a drug that might or might not materialize. She settles for everyday moments with her daughter: The smile that lights up Jessie’s face as she walks slowly across the room. The giggle that erupts when her father gently pokes her bellybutton. The joy that Jessie got out of a recent visit to her school.

"We are incredibly blessed," Lisa Leoni says. "I just keep telling Jessie that we’re just going to have to find new ways of living."

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