PHOENIX (KSAZ) - Through tragedy, an Arizona family's effort to find a cure for a terrible disease is helping a Texas family, in their quest to save their two young girls.
Niemann-Pick Type C (NPC) is a rare disease and it affects about 1,000 children in the United States. Nicknamed Childhood Alzheimer's, its symptoms, like the Alzheimer's Disease that affects older people, are devastating to a patient and their families.
With Childhood Alzheimer's, kids slowly fade away as researchers continue to look for a cure, but one couple in Tucson has devoted their lives to making a difference.
A home in Austin, Texas may be filled with the laughter of two special girls: 7-year-old Belle Andrews, and her sister, 3-year-old Abby, but they are too young to truly understand the tragic bond they share, and journey ahead that their parents know about.
"We make a point, my husband and I, even though we carry around a lot of pain for them, and that they have been given this lot in life, we meet them where they are, and they are happy little girls," said Pam Andrews. "They don't live under a black cloud, and so we meet them where they are."
For Pam and her husband Chris, their nightmare began with Belle, and early signs of delayed development - signs like Belle tripping and falling multiple times a day, walking with a peculiar gait, and bad hearing. Pam and Chris said they have seen up to nine doctors, anyone from Nephrologist (kidney doctor), Neurologist, and Pediatricians.
The confusion went on for years, and something changed during a routine wellness check, when a substitute pediatrician found an abnormally large Spleen. It's something Pam had worried about since Bell was born. The next step was genomic testing to make sure she didn't have a rare disease. At another doctor's office, after a year of waiting for results, the news that shocked the Andrews changed their lives forever.
"He went through a very clinical description, and every time he paused, Pam would ask, is it fatal? And he would go on.. and finally at the end, he said yes, yes it's fatal."
Belle has Niemann-Pick Disease, Type C. It is a condition that involves a structural problem with a gene, which prevents every cell in the body from processing cholesterol. Over time, kids will lose their motor skills, as well as their walking, coordination, and cognitive abilities.
For some patients, they eventually won't remember their loved ones. Belle is not there right now, but when she was diagnosed, her future looked bleak.
"He said Belle would love to be the ages of 12 and 20," said Chris Andrews. "Everything went black. Everything went black."
For Belle, the chance of having the disease was one in 150,000, but for Abby, there was a 25 percent chance of her having it as well. Abby's parents later received a call they probably hope they'd never receive.
"I don't think there are words to explain to you what it feels like to be told that you're probably going to love your entire family," said Pam.
That feeling of loss is felt by another family, almost 1,000 miles away.
"This house was filled with so much activity and noise and joy was suddenly quiet and empty," said Cindy Parseghian. "That was just devastating."
With almost all of their children gone, Cindy and Mike Parseghian's home is lined with memories. Three of Parseghian's children, Michael, Marcia, and Christa, have passed away from NPC. Of the three, Christa lived the longest, to 16.
The disease, however, did spare Ara, the family's eldest son. At the time, no one understood why, but Cindy refused to back down, became determined, and started the Parseghian Fund to help find answers themselves.
"There was about one and a half labs in the country working on it, trying to isolate the gene responsible for it," said Pam. "So, we jumped in, started funding a lab at the National Institute of Health, and we isolated the gene in about a year."
23 years and $45 million later, the Parseghian Fund has paved the way for studies, trials, and advancements. While there's no cure for NPC, there's so much hope and promise, in the form of a clinical trial. The Andrews, however, found out that living in Austin is going to make treatment difficult, as there are only two cities in the country that were approved as clinical trial hubs.
For 10 months, the Andrews, on a bi-weekly basis, flew all the way to Chicago to get treatment for their girls. Eventually, that turned into a 20-minute drive for treatments with Dr. Augustine Park, Chief of Anesthesiology with the Dell Medical Center.
Belle's progress can't be talked about until the trial is over, and reviewed by the FDA. As for little Abby, she is taking the drug on a compassionate use basis. So far, she and other patients have seen remarkable results.
"I'm hoping that this medicine will really stabilize and I think in Abby it could prevent any progression, that's the hope," said Pam. "With Belle, it could stabilize her and she could be in school all the way through high school and even into college."
It's hope the Parseghians worked so hard for, but never had themselves.
"I think this drug can make a significant impact on their lives," said Cindy.
Meanwhile, the Andrews have started their own efforts in the Firefly Fund, with the goal of finding a cure for the future of children -- theirs, and all others.
"We have an unshakable belief that we can cure this disease," said Pam.
Finding a cure will not only help the Andrews, but also make it possible to screen every child for the disease right after they are born.
Niemann-Pick Disease information
The Firefly Fund - http://firefly.fund
The Ara Parseghian Medical Research Fund
Life In Motion Photography