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Rare Disorder Brings Families Together


The item on Angel pitcher Bryan Harvey and his little girl caught Mark Evans' eye. Her name is Whitney, the same as his own youngest daughter's. And there in the brief story was a mention of a rare neurological disorder called Angelman syndrome.

Evans made a mental note; it would be another one for him and his wife, Alice, to look into.

For 10 years--a decade of doctors and tests and dead-ends--the Del Mar couple had been trying without success to find the explanation for the severe delays in their daughter's development.

Whitney Evans, 11, is a boundlessly energetic little girl, full of a laughter that often bubbles forth for little apparent reason. Though small for her age, she can nearly bowl over an adult with one of her hugs. But she has never spoken, has suffered from severe seizures and did not take her first steps alone until she was 9.

Not long after Mark Evans saw the note mentioning Angelman syndrome in Sports Illustrated, a friend gave the couple another story, one that appeared in The Times in February. Once again, it was about Bryan Harvey and his family. The condition of Whitney Harvey, 5, Bryan and Lisa's second child, was diagnosed as Angelman 2 1/2 years ago, and the couple are seeking to spread the word about a disorder that often goes undiagnosed or misdiagnosed.

The article in The Times was a longer one, and, as the Evanses looked at the picture of Whitney Harvey and the descriptions of her behavior, their excitement grew. It was like reading about their own daughter, a girl whose problems had seemed unique.

Within weeks, the Evanses finally had an answer. Their Whitney, too, is affected by Angelman syndrome, a disorder that is caused by a deletion or other deficiency on the 15th chromosome.

By May 30, a group of eight or nine families, all with Angelman children, attended an Angel game at Anaheim Stadium. Since Harvey's efforts to publicize the disorder began--resulting in numerous newspaper articles and television exposure--at least two children's conditions have been diagnosed, and close to 10 Southern California families have joined a support group organized by Nancy and James Reed of Brea. Their 8-year-old daughter, Tiffany, the third of four children, was found to have Angelman about 2 1/2 years ago.

The Evanses, like others with Angelman children, have thick medical files filled with trips to the emergency room, prescriptions for seizure medication and a series of inaccurate diagnoses.

By coincidence, the Evanses were in the midst of another round of chromosomal analysis, taking advantage of recent technological advances, when they read about Whitney Harvey. Trying to contain their hopes and knowing that they might be disappointed yet again, they mentioned Angelman to their doctor. Soon, their guess was confirmed.

Among the typical characteristics of the syndrome--named after Dr. Harry Angelman, the British physician who first described it in 1965--are severe mental retardation, an excessively happy demeanor and the absence of meaningful speech. There is also a movement and balance disorder that results in a stiff, jerky gait. In many cases, the skin and hair of the children are very fair and sun-sensitive, and many parents have reported that the children particularly enjoy swimming and bathing. Seizures are also common.

Alice Evans, excited about finally having an answer, phoned to thank the Harveys for spreading the word about the disorder, which is frequently misdiagnosed as cerebral palsy.

Ashleigh Evans, 14, Mark and Alice's other daughter, listened in on her mother's half of the conversation with Lisa Harvey.

"She was saying, 'Does your Whitney do this? So does Whitney! Same here!' "

Soon, the families got together, along with a third at the Harveys' Orange County home.

"The first time we met the Harveys, that was probably the most special day of our lives," Alice Evans said. "It was so nice, you didn't have to worry what she might do because these kids all do the same things. It was almost like meeting a long-lost twin sister."

Ashleigh agreed.

"It was like talking to a family member," she said.

The gathering was just a beginning. Later in the spring, families of about eight children with the syndrome gathered at the Reeds' home in Brea. In May, the Harveys organized the baseball outing. There were pregame visits with the players, and, in a fitting end, Harvey earned the save in a 3-1 victory over Cleveland.

"It was so nice to meet other Angelman kids," Nancy Reed said. "My husband and I had never met another Angelman child. The first meeting was kind of wild and crazy; you can imagine getting 10 of those kids together, it would be on the crazy side."

What the families are discovering is that they are less rare than they believed.

In Santa Maria, Stephen and Alexa Morgan had been searching for the reasons for their 9-year-old Tiffany's severe mental retardation, excessive laughter, seizures and obsession with water.

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