ATWATER -- Emily Sanda's parents harbor no delusions about their daughter's future. They know their firstborn child, now 6 years old, will never ride a bicycle. They know she'll never go to school, never speak, never grow up.
They'll count themselves lucky if they get to see her turn 12.
Emily, who was born in Merced, has Niemann-Pick Type C, or NP-C, an extremely rare genetic disorder for which there is no cure. The disease prevents the breakdown of cholesterol, causing the body to store it in the brain and other vital organs. The buildup causes severe neurological damage and eventually death.
"In a lot of ways I've already mourned her loss," said Emily's mother, 28-year-old Rachel Sanda. "I've accepted the fact that she will never become the daughter I imagined."
Emily's father, 30-year-old David Sanda, is equally realistic about what the next five or 10 years will bring. "No matter what we do, we know there probably won't be a cure in time for her," he said.
But that hasn't discouraged the Sandas from trying to save others.
Since Emily's diagnosis four years ago, her family has raised more than $15,000 for medical research aimed at fighting NP-C. Most of it has come from fundraiser dinners they've organized themselves and sales of candles and other crafts that David and Rachel make at home.
All of the money has gone to the Ara Parseghian Medical Research Foundation, an Arizona-based nonprofit that's exclusively dedicated to funding NP-C research. The Sandas are holding another fundraiser dinner Saturday in Merced.
"Every time we send another check into the foundation, it's like I'm punching the enemy," David Sanda said. "The disease makes you feel so helpless, but this is something we can do."
As if the Sandas didn't have enough to do already.
Besides Emily, they have two more children, 3-year-old Elijah and 16-month-old Jacob, and Emily's care alone is a full-time effort.
NP-C's symptoms are wide-ranging and get worse with time. The disease causes a loss of intellectual and motor function, clumsiness and difficulty with swallowing and up-and-down eye movements.
As few as 100 children are thought be living with NP-C in the United States today. As the disease progresses, walking and swallowing become harder. Patients in later stages usually require wheelchairs and intensive care. Most die of pneumonia before adolescence.
For now Emily is still able to walk but she falls a lot. She moves slowly. Her muscles are becoming more and more rigid and her vision has worsened. She still eats some food on her own, but gets most of her nutrition through a feeding tube that doctors permanently inserted into her stomach this spring. She drools and suffers seizures and cataplexy.
She vomits often and the medication she takes to slow her degeneration causes nearly constant diarrhea. She tires easily and sleeps a lot. She goes to physical therapy but not to school.
"We change diapers and clothes all the time, and we always have to be ready for a seizure," Rachel Sanda said. "We can't just hop in the car for a quick trip to the grocery store or the park. Everything kind of becomes an ordeal.
"We spend a lot of time close to home, but we don't mind. We just like being together."
The 15 to 20 words Emily knew when she was 2 are long gone. She doesn't speak and she doesn't understand language anymore.
Even so, she is responsive, affectionate and curious. She doesn't watch television but she likes music and going outside. Her favorite thing to do is wander slowly and pick up things within reach to feel them.
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