The Newsletter of the
Ara Parseghian Medical Research Foundation
A Legacy of Hope
It’s been a little over a year since Marcia passed away. Every day we think about the amazing strength she had—the same strength we saw in Michael, Christa and all children who suffer from Niemann-Pick Type C. And though we miss them unbearably, they have given us...and families of all children with NP-C and other neurodegenerative diseases...
a legacy of hope.
They gave us this legacy by the simple things they did: hope punctuated their laughter, it sparkled through their tears, it shown brightly in their determination to never give up. Mostly, they gave us this legacy by showing us how precious life is.
Because they lived each moment with pure joy, hope has permeated our dreams and simmered in our sorrow. Hope has bolstered the dedication of the many volunteers around the country who work diligently to raise funds for the APMRF. It lies at the heart of the Foundation's research, which is moving closer to the reality of a cure with one drug currently in trial to help slow NP-C progress and promise of another drug going to trial within the next year.
Your unflagging support, unprecedented generosity and never-ending prayers are also the basis for hope in APMRF research in 26 labs around the world. This research may have implications not only for those with NP-C, but for those with other cholesterol metabolism disorders as well as Alzheimer's.
So while some might say that we have been defeated by the deaths of our three angels, that is not the case. As Jacob Riis, reformer and photographer once said, "Some defeats are only installments to victory." With your support, we will continue the legacy of hope that will lead to ultimate victory over NP-C and all neurodegenerative diseases.
Cindy and Mike
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NP-C Scientific Conference
Tremendous progress has been made over the past twelve years in terms of what has been discovered about Niemann-Pick Type C, the level of science being conducted, and—perhaps the most visible evidence—the sheer numbers of scientists worldwide who are studying NP-C disease.
Many of these scientists converged on Tucson, Arizona in early June to attend the annual Scientific Conference on Niemann-Pick Type C Disease hosted and sponsored by the APMRF. More than 70 researchers were in attendance at this important conference.
Looking back to 1995 soon after the APMRF was launched, only three researchers attended the first NP-C Scientific Meeting. And, this was a majority of the scientists working on NP-C at the time.
More than 20 stimulating presentations were given in a spirit of collaboration and continuing hope that a treatment will soon be found. In a letter received by the Foundation, Kimberly Buhman, Ph.D. from Purdue University wrote, “I received much support from other scientists at the meeting including generous gifts of reagents to pursue projects and thoughts about what the current key NP-C research issues include.”
Another attendee, Dr. Kyle Peak of the University of Alberta, made the following comment: “I want to thank you again for a wonderful conference and the great hospitality. The meeting was very insightful. Seeing how devastating this disease is to NP-C families was very touching and inspiring to us young scientists.”
The APMRF’s Scientific Advisory Board (SAB) met to define NP-C Research Priorities, which were presented to the attendees the following day. As well, the SAB deliberated for many hours over 30 new grant applications—by far the largest number of new grants ever submitted. Eleven cutting-edge projects were recommended for funding.
Combined with the 15 currently funded labs, this brings the total number of APMRF research projects to 26. Our sincere thanks to all of our wonderful donors for making this possible. Because of your generosity we are speeding NP-C research toward a treatment and cure.
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A Salute to...
The Westin La Paloma Resort & Spa
In keeping with the rich Hispanic heritage of Southern Arizona, the local Westin Resort & Spa is named La Paloma…Spanish for “the dove.”
Not only do visitors to this magnificent resort see a dove displayed throughout the property as its symbol—they feel the sense of peace, tranquility and generosity one associates with desert doves.
Shortly after the Parseghian children were diagnosed with NP-C and the Foundation was launched, a dedicated and determined group of Tucson volunteers decided to host a fundraising dinner and auction. What started as a fairly small gathering of a few hundred people has grown to be one of Tucson’s largest charitable events.
One of the main reasons “One More Victory, Ara!” Celebrity Golf and Gala Weekend Presented by University Medical Center has become so popular is that it is hosted by The Westin La Paloma Resort & Spa.
Steve Shalit was the General Manager who first welcomed the Parseghian Foundation event to La Paloma. After Steve and his wife Linda moved to Florida, Bill Petrella was named General Manager. He has proven to be as accommodating and generous in the fight against NP-C disease.
In addition to Steve and Bill, many other La Paloma employees have embraced the Parseghian Foundation including Catering Manager Donal Drayne, Executive Chef Serge Delage, and Dan LaRouere, Country Club General Manager.
Event guests rave about the food, the service, the condition of the golf course…each detail is expertly planned by La Paloma’s experienced and caring staff. They also donate items to our auction each year including the Chef’s Table.
The Westin La Paloma Resort & Spa also hosts our annual Scientific Conference each June. Cindy Parseghian welcomes the more than 70 researchers from around the world by saying, “Welcome to Tucson and to La Paloma. Please know if it weren’t for the generosity of this resort by deeply discounting the rooms, meeting space and food…we’d be meeting at a motel down by the airport!”
Our sincere thanks and gratitude to everyone at The Westin La Paloma Resort & Spa—from servers to housemen, sales and catering managers to cooks, and golf cart attendants to housekeepers—you truly are our “doves of the desert.”
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Alzheimer's Touches Children
USA TODAY – May 1, 2006
By Kathleen Fackelmann
(Copyright 2006, USA TODAY. Reprinted with permission.)
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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Similar to the Parseghian family, Enio and Lucy Liegghio of Ontario, Canada have continued to fight against NP-C even though their own child, Luke, lost his battle to the disease in 2005. Joined by loving family and friends, they hosted their 5th annual “Life For Luke” Dinner Gala, Dance and Silent Auction on March 4 in memory of little Luke. Our thanks to the Liegghio family for their continued support and love for all children and families living with NP-C.
Marcia Parseghian’s legacy lives on at Catalina Foothills High School in Tucson. The Student Council hosted their 2nd annual “One More Victory, Ara! 5K Walk/Fun Run” on April 15 in her memory. The event was presented by AOL of Tucson. Marcia was certainly missed…but her memory lives on.
“One More Victory, Ara!” Celebrity Golf and Gala Weekend Presented by University Medical Center was held at The Westin La Paloma Resort & Spa on May 5-6 and netted close to $500,000 for NP-C research. Our sincere thanks to our title sponsor, UMC, as well as to event sponsors Precision Toyota of Tucson, The Jim Click Automotive Team, Bon Voyage Travel, Wells Fargo, La Encantada/Westcor and The Westin La Paloma Resort & Spa.
The 2nd annual “Fiesta Fantastica” was enjoyed by more than 600 Tucsonans on the evening of May 19 at Tucson’s premier shopping center, La Encantada. Presented by Chapman Automotive and sponsored by Tucson Lifestyle home & garden along with La Encantada, festivities including delicious food and beverages donated by area restaurants and resorts, beautiful decorations, lively music and colorful dancing. More than 30 local artisans decorated piñatas, which were displayed and sold during the evening.
“Ara’s Outing” has been hosted by the Notre Dame Club of Milwaukee for the past six years and has raised more than $150,000 for NP-C research. This year’s event was held on July 17 and attended by many loyal fans of Ara Parseghian who was honored during the awards dinner program.
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Those Who Care...Adam Recke - Loved by All
In October 2005 Sean and Amy Recke of Bethlehem, Pennsylvania were told by doctors that their son, Adam, had Niemann-Pick Type C disease. As with any family, they were shocked and saddened by the diagnosis.
However, they lost no time in learning more about NP-C and how they could join in on the battle against it. Their hope is to find a treatment and cure for Adam and all the other kids around the world afflicted by this disease.
Joined by teachers and students at Salisbury Middle School in Allentown, PA where Sean teaches, the entire community has rallied around Adam and the Recke family.
A variety of fundraising events have been held including a bake sale organized by the Interact Club at Sean’s school during Family Fun Night.
Adam was at center ice to drop the ceremonial game puck for the "Adam Recke Night With The Philadelphia Phantoms" of the American Hockey League. Organized by fellow teacher, Matt Tobias, this special event raised more than $1,600 for the APMRF.
More than 850 supporters participated in the “5K Run/Walk For A Cure” held on June 10 in honor of Adam. On September 17 the Pennsylvania State Education Association sponsored the 1st Annual "Golf For A Cure" to benefit NP-C research.
Through the thoughtful and compassionate efforts of this caring community…hope continues for the Recke family and all families afflicted by NP-C disease.
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