Ara Parseghian Medical Research Foundation

Join us in the Fight Against Niemann-Pick Type C Disease


Newsletter - A Goal for Life

December 2006

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The Newsletter of the
Ara Parseghian Medical Research Foundation
December 2006


Holiday Memories

Holiday Greetings from the Parseghian family and everyone associated with the Ara Parseghian Medical Research Foundation. As yet another year draws to a close and the holidays are upon us, we reflect back on the many people who have blessed our lives along this journey over the past twelve years. We thank you.

The sadness of losing Michael, Marcia and Christa will always be with us. And yet, each new day helps us heal knowing the memories of our children live on. We are grateful that so many have continued to support the fight against Niemann-Pick as a legacy to our children…and with the love of all NP-C children and families firmly in our hearts.

As you look into the eyes of these precious NP-C children in the photos above, you can sense their excitement for the holidays…and for life itself. Thank you for helping us find a treatment so that they can realize their dreams.


Caring and Faithful

Many donors from across America have blessed us year after year by their tireless support. Pages could be written about the multitudes of donors who have given selflessly in hopes that the lives of children afflicted with NP-C could be saved.

If an award were to be given for the most faithful, Arthur and Maureen Schaub of Randolph, New Jersey would surely be the recipients. This generous couple has mailed a donation to the APMRF every month since June of 1995—more than 135 in total.

When Mr. Schaub was asked why they have been so steadfast in their support he replied, “I’m a Notre Dame fan, although I went to Seton Hall. I like Ara Parseghian and when we heard about his family’s story, we just wanted to help.”

He went on to say, “When I read in the newsletters about the research progress that has been made, I get excited. We have four children and three grandchildren. All, thank God, are healthy. God blessed us and so we try to give back.”

Another faithful donor deserving of recognition is Miss Florence Zamarelli of Warren, Ohio. Her monthly gifts have become favorites with our many office volunteers as she always sends the donation in a pretty, colorful greeting card.

Miss Zamarelli first learned about the Parseghian family and Foundation while watching Regis Philbin on television in August 1995. She has followed the story ever since and given more than 85 gifts over eleven years.

“This is one of my favorite donations to give,” said Miss Zamarelli. When asked why, she replied, “You’re doing it for someone. Just a little kindness. That’s all. When I read that one of the kids has passed away, it breaks my heart. I was a teacher for many years and I love children.”

We are very thankful for Arthur and Maureen Schaub, Florence Zamarelli and all donors who have enabled the APMRF to make tremendous strides toward finding a treatment for NP-C disease.

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Heartfelt Thanks...
From themed dinners to golf tournaments, raffles to lollipop sales—caring people are holding events and giving donations to ensure that the magnitude of NP-C research continues to grow. We are most grateful for this remarkable support. Every dollar brings us closer to finding a treatment for Niemann-Pick Type C disease.

Vince and Josephine Tenuto from Chicago have hosted the “Ara Parseghian Charity Golf Day” for the past seven years. This year’s successful tournament took place in August at Gleneagles Country Club.

Vince is also instrumental in organizing the annual Saint Joseph’s Day Dedication of the Table hosted by Mayor Richard M. Daley. A donation to the APMRF is given from proceeds of this luncheon each spring. Thank you Tenutos for your kindness.

Casey Kahl, a six-year-old from Cincinnati, is like any other little boy—he loves his dog, baseball and his friends at school. He’s not about to let NP-C slow him down and neither are his parents, Jim and Karen Kahl. Along with Casey’s grandparents, Dr. and Mrs. James Kahl, and a dedicated committee of family and friends, they host a golf event each year called “Swing for a Cure”.
The Kahls are one of a number of NP-C families who have joined forces with the Parseghians to fight this disease. Thanks so much for your dedication.

“Go Irish!” This chant could be heard loud and clear at the Notre Dame vs. UCLA football game tent party on October 21. More than 140 guests enjoyed this pre-game fundraiser hosted by Joe Donovan, a ND alumnus and friend of the Parseghians, and his company Credit Suisse.

Angels descended on the Manhattan Beach Marriott in Southern California for the 8th Annual Leoni Family “Fight For Jessica” Benefit.

For many years Jessica Leoni took dance classes and often could be seen perfecting her dance moves around the house. Although the symptoms of NP-C have taken away her ability to dance, they’ve not taken away her love of dance.

Jessica’s dance teacher, Cathy Peoples, has never given up hope and her love for Jessica. Her dance students, known as Jessie’s Girls, performed a beautiful lyrical number. Jessica wore a white angel costume and was on stage while the girls danced around her.

The magical evening touched everyone’s heart while raising substantial dollars for NP-C research. Thanks to Anthony and Lisa Leoni and the love and energy of co-chairs Patty and Bob Fisher and their able committee, the benefit was a tremendous success.

The “Rock Canada” in La Canada, CA was the Junior Women’s Club’s annual fundraiser which benefited the APMRF. Anthony Leoni represented his daughter, Jessica, and the APMRF when he shared with the Club about NP-C and the battle being waged to save lives. Thanks to his testimony, the APMRF was selected as a beneficiary resulting in an $8,500 donation. Thank you Anthony Leoni and La Canada Junior Women’s Club.

After two years of wondering and waiting, David and Rachel Sanda of Modesto, CA were told why their young daughter had developmental delays. Emily was diagnosed with NP-C.

The Sandas contacted the APMRF to learn more about NP-C, and how they could help raise funds for research. They rented a booth at the Manteca Street Fair and sold soaps and candles made by David’s mother, wood crafts from a neighbor, and they painted children’s faces.

On August 19 they hosted a “Hope for Emily” dinner and raffle, raising more than $8,400 from their first event with wonderful support from family and friends. Our gratitude to the Sandas for joining the fight against NP-C.

Teachers are special people. Tammy Foster, an English teacher from Marana HS in Tucson combined a writing assignment with a lesson in charitable giving. Throughout the year her students collected money and at the end of the year she distributed information on three charities. After reviewing the information and writing a defense of their choice, her students chose the APMRF as the charity they wished to donate their $200.

Ms. Foster wrote, “I know each donation helps create the blessing of abundance. I believe this opened their hearts and minds to charities.” Thank you Ms. Foster and your students.

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Previously approved drugs may be helpful in fatal pediatric disorder

Activating nuclear receptor may help clear toxic cholesterol byproducts

By Michael Purdy
The Washington University Review
Reprinted with permission

Aug. 28, 2006 — A progressive neurodegenerative disorder that is often fatal within the first two decades of life may be treatable via a molecule already targeted by approved drugs, scientists at Washington University School of Medicine in St. Louis and other institutions report.

Scientists working with a mouse model for Niemann-Pick type C (NPC) disease showed that experimental treatments appear to be acting through the pregnane X receptor (PXR). Found in the cell nucleus, PXR regulates the activity of a cluster of genes that helps the body get rid of toxins.

NPC affects approximately one in every 100,000 children. Affected individuals typically present in early childhood with gait disturbance and progressive impairment of motor and intellectual function and usually die during adolescence. At present there are no effective treatment options.

Drugs already known to activate PXR include the anti-seizure drug dilantin, the antibiotic rifampicin and the herbal compound St. John’s Wort. Additional experiments are underway in mice to firmly determine if the successful laboratory treatments are acting through PXR. If this proves to be the case, new clinical trials may soon follow, according to senior author Daniel S. Ory, M.D., associate professor of medicine and of cell biology and physiology.

“Because we have so few options to offer NPC patients and their families now, if this connection can be confirmed, we’d try to get some known activators of PXR into clinical trials as soon as possible,” Ory says.

The results appear online this week in the Proceedings of the National Academy of Sciences.

NPC belongs to a broader class of diseases known as lysosomal storage disorders, which affect more than 30,000 people worldwide. In these disorders, disposal and recycling units within cells known as lysosomes become jammed, preventing proper degradation of certain compounds and leading them to build up to dangerous levels.

In NPC, the molecule that builds up in the lysosomes is cholesterol. Cells use compounds made from cholesterol to sense and regulate their own internal cholesterol level. The jam in the lysosomes disrupts creation of these byproducts, impairing the cell’s ability to sense its own cholesterol levels. As a result, cells continue to make and take in cholesterol even after their cholesterol levels are already dangerously high.

This buildup has toxic effects on an important class of brain cells known as Purkinje cells. As they die off, patient function progressively declines.

“The learning difficulty is the most obvious indicator, but some symptoms are often very insidious in the early stages of the disorder,” Ory says. “It’s unfortunately not a disease that many primary care physicians are looking for, and I suspect it may be seriously underdiagnosed.”

In 1980, researchers identified a mouse line with a mutation that naturally duplicated the pathology seen in human NPC. They have since used it as a model of the disorder.

With the support of the Ara Parseghian Medical Research Foundation, a private foundation established in 1994 to fund NPC research, scientists in 1997 linked most forms of NPC to a gene they named npc1. Through grants from the same foundation, Ory’s research group has been studying how npc1 changes affect cholesterol metabolism.

For the new study, scientists in Ory’s lab were using the mouse model of NPC to test a synthetic compound that activated genes for proteins that break down cholesterol and remove it from cells. At the same time, Synthia H. Mellon, Ph.D., of the University of California-San Francisco, was treating the same mouse line with a naturally occurring nervous system steroid similar to the cholesterol sensors used by healthy cells.

Both efforts met with moderate success. When the labs combined the treatments, though, a single dose 7 days after birth extended the average mouse lifespan from 78.8 days to 135.7 days, or 72 percent.

After an extensive search for indications of how the experimental treatments might be working, scientists found increases in the activity of a gene regulated by PXR. Ory believes that the genes activated by PXR may help cells break down toxic byproducts of excessive cholesterol buildup.

Researchers determined that both of the treatments they used can activate PXR. To establish definitive proof of the link between PXR and successful treatment of NPC, they have now created a mouse line that has the NPC disorder but also lacks the gene for PXR. If the treatments do not help those mice, the link will be confirmed, and scientists will begin considering the treatment possibilities offered by approved drugs known to affect PXR.

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Notre Dame Alumni Rally Behind Coaches

If you’ve been fortunate enough to attend a football game at the University of Notre Dame, you’ve heard the entire stadium sing their alma mater following the game. The final words that are loudly sung out are, “Love thee Notre Dame!”

To say Notre Dame alumni are part of a big extended family would be an understatement. Thanks to their love of Coach Ara and the Parseghian family, the Foundation has been blessed over the years by amazing support of the Notre Dame community.

On July 24 at the Waldorf Astoria in New York more than 800 Notre Dame alumni and friends attended the inaugural Notre Dame Coaches’ Kickoff for Charity.

Thanks to the vision and ingenuity of alumni Jim Higgins, he approached current Notre Dame football coach Charlie Weis about hosting an event to raise funds for Hannah & Friends, the foundation founded by Charlie and Maura Weis in honor of their daughter Hannah who has been affected by developmental disorders.

Charlie instantly thought of bringing in Ara Parseghian and the APMRF as well as former coach Lou Holtz who also has a foundation that supports many worthy causes. Within weeks the idea for a dinner and auction was born. In less than six months major corporate sponsors stepped forward, all tickets were sold and this very special evening took place with Regis Philbin serving as Master of Ceremonies.

The Notre Dame Coaches’ Kickoff for Charity netted more than $1 million, which was distributed to the three foundations. Our sincere gratitude to everyone involved with this wonderful charity dinner.

The event moves on to the Los Angeles area next summer and to the Regent Beverly Wilshire Hotel where it will be held on July 8, 2007.

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© 2008 Ara Parseghian Medical Research Foundation
3530 E. Campo Abierto, Suite 105, Tucson, Arizona 85718-3327, Phone: (520) 577-5106 Fax: (520) 577-5212, E-Mail: