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Tucson woman, family battles rare disease

The disease affects 1,000 children in the country
Posted at 4:19 AM, Jul 19, 2017
and last updated 2017-07-19 10:56:02-04

Cindy Parseghian sometimes spends more than 12 hours a day working to raise money for a cause she had no idea existed until 20 years ago. Her goal is to one day find a cure for a rare and fatal genetic disorder that impacted her family directly. The reason, she says, is because she has to. 

Her journey began in 1994, a year that scarred her and her family forever.

"Michael was about five years old, we started seeing symptoms in him, he was not quite keeping up with the other kids in the playground, speech was slow,  we just knew it wasn't a normal development," Parseghian said as she looked down at her family photos.

After several years and many doctor visits, Michael Parseghian, the oldest of her four kids, was diagnosed with an extremely rare disease, Niemann-Pick Type C, nicknamed Childhood Alzheimer's.

The genetic disorder is caused by an inherited gene mutation, which does not allow the body to properly break down cholesterol and other fats, according to the U.S. National Library of Medicine.

The cholesterol and other lipids start to accumulate to the point that they become toxic in the spleen, liver, and brain.

The disease causes many symptoms, "eventually kills cells and causes patients to have trouble walking, lose intellectual abilities, learning difficulties, seizures, and tremor," Rush University Medical Center's Dr. Elizabeth Barry-Kravis said. 

Three years later, in 1997, the disease took it's first hit on the family.

"We lost Michael the Spring of 1997, at the age of 10, to a seizure early one morning in his bed, this was our cowboy, he always wanted to be up on a horse, was pretty darn amazing," said Parseghian, who found Michael laying on his bed that morning.

Unfortunately, Michael was not the only one the disease took away. 

That same year, 10-year-old Christa, the youngest of the three, and 16-year-old Marcia, the oldest, also passed away.

"(It was) unthinkable, unbelievable, it still hurts, its raw, its the most devastating of pains you can ever imagine," Parseghian said, as she cleaned tears off her face. 

As time goes by, many kids continue to die, to fade away, since there is still no cure for the disease. However, 23 years and $45 million of fundraising later, what does not fade away is Parseghian's hope to one day find a cure. 

Cindy and her husband created the Ara Paraseghian Medical Research Foundation, which has paved the way for studies and trials. 

The memories of her three lost children and the need and want to help others inspire her.

"It is remarkable to see so much brain power in a room focusing on this disease and it gives families hopes and gives me hopes that we are going to find an answer to this disease," Parseghian said. 

She and her husband continue to travel across the country participating in conferences. 

Their goal is to educate people about Nieman-Pick Type C and eventually find a cure.

For more information on how you can support the foundation, click here.