Parents live knowing rare disease will take daughter from them

06/25/2009 12:10 AM

10/19/2009 10:52 AM

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.

"She likes to explore," David Sanda said.

The Sandas' boys have shown no signs of NP-C. Elijah was a month old when Emily was diagnosed. Doctors told the Sandas there was a 1-in-4 chance he would also have the disease. They opted not to have him tested. Jacob also has not been tested.

"We decided we wouldn't have any more children, because we didn't want to take the risk," Rachel Sanda said. "Jacob was a surprise. ... Now we call him Elijah's blessing, because he'll still have a sibling to grow up with after Emily is gone."

Soon after Emily's diagnosis she began taking a drug called Zavesca, still considered experimental for use by NP-C patients. It slows the effects of her disease, but it won't cure her.

The Sandas went nearly broke paying the drug's $5,000-per-month cost before they figured out that David's mother's health insurance is among the few that will cover experimental uses. In 2006, they legally gave up custody of Emily to her grandmother so they could get the drug for free. (Emily still lives with her parents.)

The family moved to Oklahoma near David's dad about two years ago. David Sanda works for a contractor there and is going to school to become a physical therapist. Rachel Sanda is a stay-at-home mom.

"We're not rich but at least we were able to buy a house there," David Sanda said. "We knew that wouldn't be an option in California."

The Sandas are here for a month-long visit, staying in Atwater with David Sanda's mom, Elizabeth Schultz, who teaches at Crookham Elementary School in Winton.

"It's great to have them here," Schultz said. "I'm just trying to enjoy Emily and not think so much about what the future is going to be like. ... She's my only granddaughter."

Besides spending time with family and friends they left behind when they moved, the Sandas are trying to gather at least a few thousand dollars for NP-C research while they're here. So far, they've sold about 30 tickets for Saturday's fundraiser. They're hoping for a lot more in the next couple of days.

The Ara Parseghian Foundation has paid for most of the studies that have been done on NP-C. It has raised about $33 million since it began in 1994. Right now, the organization is funding 25 research projects across the country. It's named for the well-known Notre Dame football coach who lost three of his grandchildren to NP-C.

Peg Romano, the foundation's assistant director, said efforts like the Sandas' are especially important because NP-C is so rare.

"When so few people are affected by a disease it's really difficult to generate enough funding," Romano said. "We really couldn't do it without families like the Sandas."

Their work toward a cure is even more remarkable in light of their circumstances, she said. "Families with NP-C often live very challenging lives, including financially. And yet, the Sandas take the time to do these fundraisers, and they pass on all the money."

The Sandas don't seem to think their efforts are anything special. "It helps us cope," Rachel Sanda said. "It's something positive we can do. That's all."

And coping they are.

"When Emily was first diagnosed, I thought I'd never smile again," David Sanda said. "But we're really OK now. We're happy.

"We're taking advantage of the time we have with her."

Reporter Corinne Reilly can be reached at (209)385-2477 or creilly@mercedsun-star.com.

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