Research sheds light on family's tragedy

6/2/05
By CLAIRE CAIN MILLER
NEWS-PRESS STAFF WRITER

Puzzling baby deaths explained

Just before Michael and Gabriella Salsbury planned to baptize their 3-month-old daughter, Gracie-Sophia, she began to have seizures. They were all too familiar with the symptoms -- two of their daughters had died from a mysterious brain disease that started the same way.

Within a month, they had buried Gracie next to her sisters in Santa Barbara Cemetery. None had lived until her first birthday. For years the couple grieved, not knowing what caused the deaths.

Meanwhile, halfway around the world a neurologist in Amsterdam was studying children with the same puzzling symptoms as the Salsbury sisters. Then, early in 2003, the couple got the phone call from Dr. Marjo van der Knaap. She had found the cause of the disorder that killed their daughters.

The Salsburys' ordeal is featured in today's issue of the British journal Nature. Simultaneously, the couple is launching a Web site, www.threelittleangels.org, for the pediatric neurological foundation they have started to provide resources and support for families, and to fund research.

"We've taken that leap of faith and put ourselves out there," said Mr. Salsbury, 46, a banker. "We're a pretty private family, but we've come far enough in the healing process and feel it's our obligation to honor our daughters. If we can create a legacy, they didn't die in vain, good came out of it."

The fatal disorder causes the white matter in the brain to vanish, resulting in seizures and other motor problems. Dr. van der Knaap discovered the gene abnormality that causes it.

Today the Salsburys are relieved by the discovery and the knowledge that other families won't have to go through what they did. But for years, they were in the "worst possible darkness of a hole," Mrs. Salsbury said.

After having a son, Nicholas, now 15, the Salsburys' first daughter, Stephanie, was born in 1993. She was healthy for three months. Then came the seizures. She was hospitalized for five months, undergoing tests and medication regimens until it became clear she couldn't live. Two years later, Jennifer was born. Again, at three months she started having seizures. She died two weeks later.

"The first time, they told us it was a fluke. The second time, they told us that it would happen to girls," said Mrs. Salsbury, 41, a neonatal intensive care nurse at Santa Barbara Cottage Hospital. But because there were so many unknowns, she carried to term another girl, Lauren, now 7 and healthy. "If you don't know, you can't just give up," she said.

In 2000, Mrs. Salsbury became pregnant with Gracie-Sophia. On the airplane ride to her baptism, the 3-month-old began having subtle seizures. The Salsburys knew what it was.

"I said that everything was all right. But I looked at her. I still remember what the sun looked like coming through the window of the plane, the sunlight on her face," Mr. Salsbury said.

The couple donated their daughters' organs to research and are now passionate advocates for organ donation. "It helped tremendously. The diagnosis wouldn't have been made without it," said Hugo Moser, a professor of neurology at Johns Hopkins University who coordinated the donations.

While the Salsburys agonized, Dr. van der Knaap was studying ill children in the Netherlands with the same symptoms. Most of them were younger than 5 years old; some would die in days, while others lived years before slipping into a coma.

Many of her patients were from a rural area in the eastern part of the country, which caught Dr. van der Knaap's eye. Most of its residents had never left the town or married people outside it, making it easy to map their genomes -- and try to find the gene causing the disease.

By the time Dr. van der Knaap called the Salsburys, she had already tested their babies' organs. Now all she needed was blood samples from the parents. They packaged vials of their blood at FedEx and sent them to the Netherlands. A few days later, Dr. van der Knaap called back and confirmed that they both carry the mutated gene.

The disorder, known as CACH/VWM -- which stands for childhood ataxia with central nervous system hypomyelination/vanishing white matter disease -- is a type of leukodystrophy. This genetic disease, which afflicted the boy in the movie "Lorenzo's Oil," affects the white matter in the brain. In patients with CACH, the white matter vanishes and is replaced by cerebrospinal fluid.

Several hundred people have been diagnosed with CACH, but many more may have the disorder. Dr. van der Knaap's discovery enables doctors to diagnose the disease in patients, screen parents who might carry the mutated gene and begin researching treatments. It also sheds light on how the brain works, which could have far-reaching effects on future medical research.

The Salsburys hope their foundation will contribute to this. The couple said it was their love for each other that ultimately led them through their grief and gave them the hope to keep trying to have children.

"During the worst of times we went through, we could peek in Nicholas' or Lauren's bedroom. We had two healthy kids and we had each other," Mr. Salsbury said.

e-mail: cmiller@newspress.com

STEVE MALONE / NEWS-PRESS PHOTOS

Michael and Gabriella Salsbury of Santa Barbara have lost three baby daughters to a rare brain disease. They have two healthy children, a 15-year-old boy and a 7-year-old girl.

Michael and Gabriella Salsbury gather Wednesday evening with their son, Nicholas, 15, and daughter Lauren, 7, before participating in the weekly Night Moves run.