Friendship survives deadly disease

News 14 Charlotte (North Carolina)
5/8/2005

By Casey Taylor, News 14 Carolina

It is a genetic disease that targets more than 200 children in the
United States. Difficulty walking and learning are just two signs of
this fatal, neurological illness, but doctors are working to save
children’s lives.

Marcia and Perri have been best friends since kindergarten, always
talking about boys and driving. But Perri knows she doesn’t have much
time left with her friend.

`Having to know your best friend is going to die … it’s not the
best,’ she said.

Sixteen-year-old Marcia is dying from a genetic disease called
Niemann-Pick Type C, or NP-C. She can no longer walk, talk, swallow or
even move her eyes. Most children, like Marcia’s brother and sister,
die before they hit their teen years.

`They can live for several years with the disease being undetected,’
says William S. Garver, Ph.D., a biochemist from the University of
Arizona College of Medicine in Tucson, Ariz.

Garver has seen how NP-C slowly steals a child’s life away.

`The children start falling down a lot,’ he said. `They have
difficulties in school concentrating.’

Researchers have isolated the infected gene, which is a huge step
forward. Now, they’re testing drugs and diets in hopes of giving
children like Marcia a better and longer life – more time to just be a
kid.

“You just have to, like, every time you’re with her, you have to love
it because there’s not going to be that much more time with her,’
Perri said. You just got to live life definitely to the fullest with
her and just love her.”

She says theirs is a friendship that even a deadly disease cannot
destroy.

Marcia’s family has started a foundation to raise money for medical
research. Doctors are hopeful that the research done on NP-C will also
help other serious conditions like stroke, heart disease, and even
Alzheimer’s.

Contact Information: Darci Slaten University of Arizona College of
Medicine Department of Pediatrics (520) 626-7217

Research Summary

NIEMANN-PICK: Niemann-Pick Disease is a term for a group of diseases
that affect metabolism and that are caused by genetic mutations. The
three most commonly recognized forms of the disease are Types A, B and
C. NP-A is a severe neurological disease, which leads to death by
between ages 2 and 4. NP-B generally has little or no neurological
involvement, and those diagnosed may survive into late childhood or
adulthood. However, these patients suffer from enlarged livers,
spleens, and respiratory problems. The enlargement of organs and the
respiratory problems can cause cardiovascular stress and may
eventually lead to heart disease later in life. NP-C is very different
at the biochemical and genetic level. Patients are not able to
metabolize cholesterol and other lipids properly within the
cell. Consequently, excessive amounts of cholesterol accumulate in
every single organ, including the brain. Type C is fatal with a vast
majority of patients dying before age 20 from neuro-degeneration.

DETECTION: Upon entering pre-school, kids with NP-C might start
showing signs of the disease. They may begin slowing down and
appearing to have difficulty concentrating. Because of
neuro-degeneration, kids may have learning problems. As the disease
progresses, children become unable to move their eyes up and down.
This is called vertical gaze palsy. It indicates the cerebellum is
being affected because certain cells die as cholesterol accumulates in
them.

THE PARSEGHIANS: NP-C struck the Parseghian family three times. Three
grandchildren of famed Notre Dame Coach Ara Parseghian were diagnosed
with the deadly disease; two of them have died already. Doctors
diagnosed Cindy and Michael Parseghian’s three children when they were
quite young. Michael died in 1997 at age 9 and Christa died in 2001 at
age 10. Marcia, age 14, is currently battling NP-C and can no longer
talk, swallow or walk without assistance. Cindy and Michael have
channeled their energies into trying to help other families dealing
with Niemann-Pick Disease find a cure.

THE FOUNDATION: In 1994, Cindy and Michael founded The Ara Parseghian
Medical Research Foundation (APMRF), a grassroots non-profit
organization committed to victory over Niemann-Pick Type C
disease. About 94 percent of the money raised goes toward helping find
a cure. More than $21 million has been raised for NP-C research as of
July 1, 2004.

RESEARCH: From the money the foundation has raised, scientists have
identified the gene that is responsible for the disease. But the race
for the cure is not over yet. Scientists are now struggling to
understand how the protein functions that is encoded by the
gene. Scientists know it moves cholesterol around inside the cell, but
they do not understand why children die of
neuro-degeneration. However, their studies are getting them closer and
closer to an answer, and they are beginning to develop therapies that
help children with NP-C.

`014