Waging war on rare diseases

By Sam Lucero | The Compass | February 16, 2016

Awareness month helps families

Most fans of the Notre Dame Fighting Irish football program know the name of Ara Parseghian. He was head football coach from 1964 to 1974 and won two national championships during those years.

What some people aren’t aware of is the real battle this coaching legend has been waging since 1994. That’s the year three of Coach Parseghian’s grandchildren were diagnosed with Niemann-Pick Type C (NP-C), a rare genetic disorder.

According to the National Organization for Rare Disorders, NP-C is characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. The organization estimates NP-C occurs in 1 in 100,000 to 120,000 live births.

Michael Parseghian passed away at age 9 in 1997, Christina lost her battle with NP-C in 2001 at age 10 and Marcia, 16, died in 2005.

In 1994, Ara, his wife Cindy and their family began the Ara Parseghian Medical Research Foundation to help find a cure for NP-C. Because it is a rare disease, families dealing with NP-C, like the Paraseghians, cannot rely on a deep well of knowledge or research of the disease. And not all families have a legendary football coach to launch a foundation to find a cure for a rare disease.

To help build awareness of rare diseases, the John Paul II Medical Research Institute is promoting Rare Disease Month in February. The institute, based in Iowa, focuses on finding cures for rare diseases, as well as cancer, neurological diseases and chronic diseases, by using only adult stem cells. Unlike embryonic stem cells, harvested through the destruction of human embryos, adult stem-cell use is supported by the Catholic Church.

One of the Institute’s projects is using adult stem cells to treat NP-C. In a brochure, the institute said the use of adult stem cells helped to speed up the test of a drug, cyclodextrin, for effectiveness in lowering cholesterol in two young siblings’ stem cells.

“There is now a clinical trial study underway to test if cyclodextrin can treat other children with NPC,” reports the John Paul II institute. It typically takes 12 to 15 years for a drug to reach the clinical trial stage, but using adult stem cells reduced the testing period for cyclodextrin to less than seven years.

The John Paul II Medical Research Institute hopes that by raising awareness about rare diseases through Rare Disease Month, more funding will be available for research. In addition to the month-long observance, the last day of February is designated Rare Disease Day.

On its website, www.jp2mri.org, the institute says there are more than 7,000 types of rare diseases affecting over 30 million Americans. In addition, around 95 percent of rare diseases have no treatments and 75 percent of those affected by rare diseases are children.

The John Paul II institute has two goals: To raise $100,000 for rare disease research and to encourage people with rare genetic diseases to join their Rare Genetic Disease Program. Participants give blood that is added to a stem cell biobank for study. The institute says it’s important to have volunteers to help research advances and clinical trials.

For families who have a member suffering from a rare disease, especially a child, hope for a cure is remote. Rare Disease Month can ignite awareness and optimism so that families like the Parseghians can continue their quest to find cures for rare diseases and help others who have little hope. Learn more about Rare Disease Day at www.rarediseaseday.org.

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