Niemann-Pick Type C, a rare pediatric disorder, will receive needed attention thanks to UCSB sophomore pre-biology major Kristin Avery’s fundraiser drawing being held from Tuesday to Friday this week.
Avery, who lost her older brother to the disease when she was 5 years old, is working with the Associated Students Community Affairs Board to raise money for the Ara Parseghian Medical Research Foundation. Parseghian’s foundation started in 1994 after three of the former Notre Dame football coach’s grandchildren were diagnosed with NP-C. APMRF raised $16 million in the last seven years and its research labs have grown from two to 40 in number.
Avery and CAB representatives will be in front of the UCen from noon to 1 p.m. today through Friday selling $1 drawing tickets. The drawing will take place on Friday at 1 p.m., with prizes donated by UCSB Bookstore, Cold Stone’s Creamery, Sundance Beach Clothing, Palazzio’s, California Pizza Kitchen, Woodstock’s, Emerald Video and others. The money will go toward research on cholesterol metabolism disorders such as NP-C, heart disease, stroke and Alzheimer’s.
“I read an article about [Parseghian] over Christmas and it really got me thinking about my brother,” Avery said. “I wanted to get something together to do something for the cause.”
Niemann-Pick Type C is a genetic pediatric neurodegenerative disorder that causes progressive shutdown of the nervous system and tends to affect 5- to 7-year-old children. The disorder interferes with the child’s ability to metabolize cholesterol and allows large amounts to accumulate within the liver, spleen and brain. A series of neurological problems occur leading to death, usually within four or five years of diagnosis.
If both parents carry the gene for NP-C, there is a one in four chance their child will inherit the disorder. Having isolated this gene in 1997, APMRF researchers are in the midst of screening various compounds to determine their effects on intracellular cholesterol processing.
Symptoms of the disease include abdominal enlargement, progressive loss of motor skills, vertical eye movement difficulties, enlarged spleen and liver, learning problems, slurred speech, seizures, and hypersensitivity to touch.
“My parents knew something was wrong with [my brother] when I began developing faster than him,” Avery said. “It got gradually worse until the last two years where he had to stay in a developmental hospital.”
“It’s really a tragic disease because it’s very slow,” APMRF Executive Director Glen Shepherd said. “The progression is much like Lou Gherig’s Disease where the brain just shuts down.”
An estimated 500 people are diagnosed with NP-C in the United States each year.
“Usually, the disorder is not diagnosed properly, which leads to a great deal of problems because it is fatal,” Shepherd said. “Some families go two or three years without knowing what is wrong with their child.”
APMRF is working to draw attention to the rare disease through intensive research and fundraising carried out at public institutions nationwide, including Stanford and Colombia Universities.
“Just this week we are beginning the first clinical drug trials in the UK on a drug that has been shown to slow the progression of the disease,” Shepherd said. “We’ve been waiting for two years and are very excited. It’s not a cure, but appears to help.”
NP-C research helps scientists understand heart disease, stroke and Alzheimer’s because of its connection to cholesterol tracking through cells. The National Institute of Health even referred to Niemann-Pick Type C as “childhood Alzheimer’s.”
After attending several CAB meetings, Avery proposed her drawing idea to the board and received positive support.
“She really saw a venue for something that had been in her heart,” CAB Advisor Pam Van Dyk said. “She finally found a place to do it.”
“I just hope we get a substantial amount of money to contribute to the foundation,” Avery said. “I know I can’t take back what’s happened to my brother, but I can do something.”