Research offers hope for Ataxia patients
CHINO HILLS, Calif. (KABC) -- A Chino Hills family is living with a grim reality. Very few people know what Ataxia is. The neuro-degenerative condition runs in families, and the symptoms can start mysteriously with a stumble or a fall. But then it becomes progressively debilitating, striking people in the prime of the lives.
Warming up food, laundry, walking - it's all a struggle. Pam Ching, 53, relies on her walker. Without it, she would stumble and fall. Her loss of balance and motor skills started about the same time she watched her younger sister also slowly lose her independence.
"She tried to kill herself," Pam said.
Suicide is something this Chino Hills mother considered herself when she learned her condition would progressively get worse. But most heartbreaking for Pam and her husband, Ray, was learning their beautiful twin daughters inherited the same disease.
"It was really, really hard on them because they were young. So they had the whole world ahead of them. They graduated. One of them actually tried to commit suicide twice," Ray said.
Pam, her sister and her daughters all suffer from Ataxia.
"Ataxia is a symptom that comes from in-coordination of the balance center," said Dr. Susan Perlman, the director of UCLA's Ataxia Center.
The cause for the Ching family was a rare genetic mutation that attacks the cerebellum and will eventually rob them of their vision. It's an unbearable reality.
"It's one day at a time. Just persevere," Ray said.
Ataxia is rare, affecting about 5 in 100,000 people. Anti-oxidants may provide some protection for the brain, and physical therapy can buy patients a few years of mobility. But the Chings are pinning all their hopes on the promise of research.
"We've now got the technology where we have moved into drug development that is more specific for what the defective gene is actually doing," Perlman said.
Perlman said numerous trials are in the works. It's research, she said, would also benefit ALS and Alzheimer's disease.
"These are expensive trials to do, but all of the initial work really depends on this public-private partnership," Perlman said.
The Chings are participating in Saturday's National Ataxia Foundation's Walk n' Roll in Yorba Linda. They want people to support them and help them be part of the solution.
"I think that will help, help go on, just continue," Pam said.
Dr. Perlman said aggressive physical therapy may buy patients a few years of mobility, and antioxidants may help protect some brain function, but what will help most is supporting research.
Orange/LA chapter NAF Walk n' Roll Event:
http://ataxia.donorpages.com/2015LAOCWnR/
