Joshua White lives in a strong, loving family. It's a good thing.

The Medfield Heights 2-year-old has a rare neurological and muscular genetic disorder that alone or with other disorders prevents him from talking, swallowing, sitting up and walking.

But, like hundreds of other Baltimore-area children with complex medical needs, Joshua is home, not in a hospital. For the Whites, that service is made possible by a 15-year-old nonprofit agency, the Coordinating Center of Millersville, which through state contracts manages the home care of 470 Maryland children and adults with complicated medical needs.

Joshua has whistling face syndrome, named for the whistling shape of his mouth, a disorder also known as Freeman-Sheldon syndrome.

He breathes through a tube in his throat. He is fed and medicated through a tube to his stomach. His breathing and heart rate are monitored 24 hours a day by parent, nurse or machine.

Being at home makes the difference between a happy home and intolerable one for Joshua's mother Michele, 29; his father David, Jr., 29; and their two older children, David III, 6, and Sara, 4. Another sister, Rebecca, was born five months ago, and she gets her share of hugs, too.

"It kills us when Josh is in the hospital" says Michele,a licensed practical nurse. "He's our son. Children need the love and affection they get at home."

Keeping Joshua home rather than in a hospital saves the public money, says Heather L. Akehurst-Krause, a registered nurse employed by the center as care coordinator for 35 families, including the Whites. The costs of care are largely borne by state, federal and insurance funds.

Akehurst-Krause says Joshua's care would cost $248,000 a year in an institution. "At home, it is $170,000 -- a $78,000 cost effectiveness," she notes.

Joshua's father, a helicopter mechanic who has missed eight weeks of work this year to be home when needed, says Joshua is important to the whole family. "We didn't want the other kids to be alienated from him. He is one of us, not 'this creature.' "

Sara expresses the same feeling in her own way. Putting her arms around her sibling, she coos: "Here's my brother Joshie."

Preserving the family

Dr. Barnaby Starr, the pediatrician for the White children, sees the Whites as exceptional, preserving a healthy family unit while living with uncertainty.

"I think we're all capable of devoting love and attention to someone special we love," Starr says. "What's unusual is how Michele strikes the balance of normality with the other children and integrates Joshua so beautifully."

The coordinator talks by phone to the Whites at least every other week, sees Joshua every third month and is available whenever the Whites need her.

She has arranged staples such as nursing 12 hours a day, technical equipment, emergency funding when problems arise and clinic visits. She coordinated with fire, phone, gas and electric and highway personnel so they know a child with special needs lives at the rowhouse on Woodheights Avenue, north of Hampden.

"We have developed a holistic approach to support these families in many ways," said Karen-Ann Lichtenstein, executive director of the center. Cases are referred from different agencies; Joshua was referred by a social worker at Sinai Hospital, where the child was rushed 17 times during his first year of life.

A few hours after Joshua was born at Mercy Hospital, a doctor came to Michele. She feared the worst. The doctor said her son had "some kind of syndrome" but he didn't know what.

" 'Oh', I said. I can live with that." she recalls. "I thought Joshua died. Anything is better than dead. Anything else is workable."

That's the family attitude.

A geneticist diagnosed Joshua as having the rare condition first described by researchers Freeman and Sheldon in 1938. The diagnosis for Joshua is still evolving. His prognosis and expected life span remain unclear.

Support group

A Freeman-Sheldon Parent Support Group based in Salt Lake City has 110 families worldwide, including the Whites, according Joyce Dolcourt, director and co-founder of the group. Some patients, whose symptoms were first misdiagnosed, are as old as 59. Joshua's symptoms are far more complicated than those of many others.

The syndrome's main feature is muscle weakness. Joshua has its characteristics: the small "whistling" mouth, a flat mask-like face, club feet, joint contractures of feet and hands and underdevelopment of the nose. Intelligence is usually normal, but Joshua's is behind in development.

After the throat tube was inserted, his breathing problems decreased. But recent seizures may indicate additional complications.

"It's a big burden, but it's a burden the Whites embrace," said Joshua's on-duty nurse, Anna Meinecke Seuberth, R.N., as she slips medicine into Joshua's stomach tube.

Joshua can hear and see. He spends most of the day reclining in a chair or lying down. He smiles occasionally and rubs his face when he's upset.

His breathing tube is periodically vacuumed. He occasionally needs oxygen. Family or a nurse give a liquid formula and medicine by hand. At night, the formula enters his stomach automatically. A dozen pieces of equipment and medicines go along when the family goes driving.

"Everything is trial and error," Michele said. "We don't know what will happen. We don't have a map. But we know that if he lives, we'll keep making life happy."

It's been a busy year. Michele's mother, Judy Watson, 50, who lived with them a while, died of pancreatitis in June. Rebecca was born in July. Joshua's seizures began soon after. His small brain size was determined before Thanksgiving.

Michele and her husband find time to laugh about how they met as classmates at Medfield Elementary School in the 1970s. She moved to Glen Burnie, and they met again when they were 19. They were married a year later.

David and Michele are thankful for his sympathetic boss, the Coordinating Center, the nurses, the doctor, family, neighbors.

When not at home, Michele works half-time.

David, a Navy veteran of Desert Storm, maintains helicopters for the U.S. Army at Aberdeen Proving Grounds. He is also a part-time security guard and a Maryland National Guardsman.

The siblings assist. Young David, a kindergartner, might help run the suction machine removing mucous while Sara, a preschooler, likes to give her brother pink medicine through the stomach tube.

For the Coordinating Center, call 410-987-1048. For The Freeman-Sheldon Parent Support Group, call 1-801-364-7060 (Web site is www.fspsg.org.)

Pub Date: 12/09/98