One Step Closer to Conquering NP-C

By Gabrielle Fimbres

After nearly two decades of fundraising, research and devastating heartache, the Parseghian family is nearing the goal line in the effort to beat the rare genetic disorder that claimed the lives of three of their children.

“Are we on the 10-yard line? I think so. The 5? Maybe. We are much closer than we were when we started the foundation,” said Cindy Parseghian, president of the Ara Parseghian Medical Research Foundation.

The drug cyclodextrin, thought to slow – or perhaps halt – the progression of Niemann-Pick Type C, is in the first phase of human trials in a study overseen by the National Institutes of Health.

Another less invasive but promising family of drugs – known as histone deacetylase inhibitors – are expected to go to trial in 2014.

“We’d love to see it stop the disease in its tracks but more realistically it will slow its progress,” Cindy Parseghian said.

The foundation, named for the famed Notre Dame football coach – who recently celebrated his 90th birthday – has raised more than $40 million since his grandchildren were diagnosed with NP-C in 1994.

The Tucson-based foundation is funding 12 labs and has awarded more than 300 grants to researchers with the goal of finding a treatment and cure for NP-C, a fatal neurodegenerative disorder.

It was hoped that a cure would be discovered in time to save the strikingly beautiful children of Dr. Michael and Cindy Parseghian. But they lost their battles before a cure could be found. Michael died in 1997 at age 9, Christa in 2001 at age 10 and Marcia in 2005 at age 16.

The Parseghians’ eldest son, Ara, does not have the disease. He is in residency in anesthesiology in Maine, and he and his wife, Cicely Ott, expect their first child in October.

In the initial stage of the cyclodextrin trial, nine children with NP-C are undergoing treatment. The drug must be administered through a reservoir in the brain.

The drugs that appear headed for clinical trial next year can be administered orally.

Cindy Parseghian is elated at the progress of the research.

“It’s been a journey in so many ways,” she said.

After it was discovered that the children had the disease, the family mobilized, knowing that millions of dollars would be needed to find a cure.

They held huge fundraisers, with musical artist Amy Grant coming to Tucson. Some years, they raised as much as $3 million, and were funding labs at the University of Arizona and around the country and world.

“Tucson has been so incredibly generous to us,” Parseghian said.

While no longer as visible in Tucson, fundraising efforts remain vibrant, with the Parseghian Golf Classic held at Pebble Beach, plus bike races, rugby matches and a host of other events.

Fundraising efforts remain critically important. The foundation also funds the study of MRI images of the brains of children with NP-C and the development of a newborn screen.

“It’s critical to start drugs before symptoms appear – and symptoms usually become evident between 5 and 10 years of age,” Parseghian said. “Our hope is to identify children at birth and have a drug available for them.”

A blood test is being developed to detect the defective gene at birth.

NP-C, thought to impact 500 to 1,000 children in the United States, stems from a genetic inability to metabolize cholesterol. Excess amounts of cholesterol build up in the liver, spleen and brain.

NP-C occurs when both parents carry one copy of the abnormal gene. When both parents are carriers, there is a 25 percent chance that their child will have the disease.

Cindy Parseghian recently organized a conference in New York of 12 NP-C researchers. In June, the 20th annual Michael, Marcia & Christa Parseghian Scientific Conference for Niemann Pick Type C Research will be held at the University of Notre Dame.

Research could impact other cholesterol-related diseases, including Alzheimer’s and heart disease.

“We have to continue to fundraise to support the research that is still so critical,” she said.

The Parseghians and their brindle standard poodles – Winston and Jasper – live in the foothills home where their children once played and thrived.

Memories of the children fill the home. The coos of the mourning doves on the patio remind Cindy of the day they lost Michael, and purple – a hue Cindy wears often – will forever be Christa’s favorite color.

She has taken up oil painting, and is working on a lovely portrait of Ara and his wife Cicely, dancing joyously on their wedding day. She paints in the girls’ sunny bedroom, which has not changed much since Marcia died. On the walls are murals of palm trees and bird of paradise. Dolls and stuffed animals fill the room.

Dozens of crosses grace the walls of the master bath. There’s one from the original Notre Dame chapel, as well as crosses made by Ara, Christa and Marcia.

“I keep them as a reminder,” Parseghian said. “The only way we get through life is helping each other bear our crosses.”

The Parseghians are spurred on in their work by the memories of their sweet children.

“One of the great things about being a mother is your children never leave you,” Parseghian said. “They are in your heart and soul. We would have loved for them to have had a full life, but they are always with us.”