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Smithsburg child stricken with rare disease

January 09, 1999|By ANDREA ROWLAND

SMITHSBURG - The plump, fair-haired toddler rested limp as a rag doll in his mother's arms as she talked about the "day the world fell apart."

That was Nov. 10, 1998, the day Dawn and Vincent Cassady Sr. were told their only child was dying of a rare disorder known as Tay-Sachs disease.

The diagnosis capped more than a year of worry by the Smithsburg couple that their baby boy, Vincent, wasn't developing as expected.

It took doctors at the University of Maryland School of Medicine in Baltimore to tell them he had Tay-Sachs, an inherited disease that always is fatal.

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"We were shattered," said Vincent Cassady Sr., 31. Sobbing and shouting with grief, the Cassadys said they didn't try to contain their emotions until security guards approached them in the parking garage at the hospital.

"We were totally devastated," said Dawn Cassady, 32.

TSD babies are usually born healthy but often begin losing some of their developmental skills at about 6 months of age. Many children with TSD also have seizures and low muscle tone.

Over time, the disease destroys the central nervous system, resulting in death before age 5.

Dawn Cassady said she and her husband were elated at the birth of the child they call Vincey on Sept. 14, 1997.

"I was crying, 'Oh my gosh, it's a boy. It's a boy. Look at how beautiful he is,'" she said. "We counted his fingers and his toes. It appeared that our child was fine."

In May 1998, Vincey wouldn't lift his head while playing in the backyard pool, she said.

"We brought him in, thinking it must be the sun," she said.

He didn't change.

In June, Vincey ran a 103.5-degree fever, and his eyes stayed focused on his nose, his mother said. She and her husband called Vincey's pediatrician, who said to monitor the fever, give the baby aspirin and soak him in lukewarm baths. They did, and the fever broke.

In July, a pediatric ophthalmologist said Vincey had stigmatisms and may need glasses in the future, said Dawn Cassady.

In August, his vision improved dramatically and the doctor said he wouldn't need to come back until November.

But through the summer and into fall, the Cassadys noticed Vincey didn't move as well as other children his age.

The baby also was unresponsive to many sounds, prompting his parents to suspect he was autistic.

In August, Vincey's day-care provider quit, saying she didn't feel she could give Vincey the individual care he needed, Dawn Cassady said.

Family members said the child was developmentally delayed, but his pediatrician attributed his slow motor development to his large size, said Dawn Cassady.

"He said to wait until the 13-month checkup," she said.

Frustrated, the Cassadys cut their work hours at the Toys-R-Us warehouse in Frederick, Md., and changed their shifts so one parent could be with Vincey all the time, said Vincent Cassady.

They enrolled their son in an infant and toddlers program at a Hagerstown school, and worked on his motor skills at home.

Through September, "he was not improving by leaps and bounds, but he was improving in small amounts," said Dawn Cassady.

She said staff members at the school noticed Vincey had a hearing problem and suggested a hearing test. Two tests showed no problems.

"Once again, we were told that everything seems to be OK," said Dawn Cassady. "We knew something was wrong."

In early October, Vincey began having seizures.

After the second trip to the emergency room at Washington County Hospital, Vincey was taken to Baltimore.

Anti-convulsive medicines he was given seemed to help, and his father said Vincey "reverted to behaviors we hadn't seen since May."

They were sent home.

On Nov. 7, the Cassadys returned to the emergency room after their lethargic baby began gasping for air. He was put on an IV and responded well.

They were sent home, but the next day, his lips turned blue and Dawn Cassady took her son to his new pediatrician, Leo F. Kenzakowski. After more tests, the baby was sent back to the Baltimore hospital where Tay-Sachs finally was diagnosed.

About the disease

Children with Tay-Sachs lack a critical chemical in the blood known as hexosaminidase A. Without it, fat stores up in nerve cells, including those in the brain. The fat ultimately destroys the cells.

The disease is transmitted to children from their parents, who carry one normal gene for hexosaminidase A and one abnormal gene for Tay-Sachs.

The carrier does not have the illness, but when two carriers become parents, there is a 25 percent chance that any child they have will have the disease.

Most TSD carriers have been Jews of Eastern European descent and French Canadians, said Jayne C. Gerschkowitz, executive director of the National Tay-Sachs and Allied Diseases Association Inc. in Brookline, Mass.

The Cassadys are of Irish descent.

"That's the interesting thing," said Gerschkowitz. She said a parallel genetic mutation brought the disease to the Irish-American population. One out of every 50 people in that ethnic group is a carrier.

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