For his first 12 years, Joshua Stephens was just a normal boy. He was a math whiz and loved reading, says his mom, Gail. A kid who enjoyed going to church where he could stand up and clap to the music.

But come sixth grade, ''That's when the sickness hit him,'' Gail says.

The ''sickness'' began with a high fever followed by a seizure.

It led to a diagnosis of adolescent onset of X-linked adrenoleukodystrophy, and the knowledge that Joshua, now 19, was the one in 20,000 who has the irreversible genetic disorder. Soon, he lost his ability to control his muscles, to walk, talk, smile and speak.

''He's completely dependent for all his activities of overall living,'' says his Miami Children's Hospital physician, Dr. José Rosa-Olivera. X-ALD is usually a progressive disease, he says.

Research is being done at a genetic level to help its victims, but it's likely to be many years before anything comes of it.

Gail Stephens, a tall woman with an open face and a big, warm smile, bears with grace the sorrow and hurt she feels.

After Joshua's diagnosis, her family avoided her.

''It has been very hard for me,'' she says as the tears well. ``People let you down.''

Even her mother, who was always close to Joshua, stayed away. Gail understands that her mother couldn't handle the tragedy.

Still, her abiding faith and a fortunate decision to take nursing classes after leaving school have gotten her through. 'I never, never ask God, `Why?' '' she says.

Gail learned how to communicate with her silent son, first through his coughing and then through his blinking. To a stranger, it's not clear how much he comprehends, but Gail is firm in her belief that her son is fully aware of what's happening around him.

Initially, she was terrified of hurting her child as she performed the routine procedures that Joshua needs. The first time she cleaned Joshua's tracheotomy tube was a challenge, but she asked the Lord for guidance, and Joshua blinked his confidence in her.

Three years after the diagnosis, Joshua was in a fetal position and weighed 89 pounds.

Today, uncurled and lying in a reclining bed by a sunny window, he weighs 160 pounds.

For the first four years, Gail struggled alone to get him into her car to take him to Miami Children's Hospital or just out for a ride.

She was given a wheelchair that supports Joshua's head and arms, but even dismantled into three pieces, it's heavy.

Now Joshua has nursing assistance 16 hours a day. His nurse, Zet, with whom Gail has fallen into an easygoing relationship and calls ''Z,'' is a diminutive woman so even between the two of them, getting Joshua into a car is immensely difficult.

Gail rarely leaves their Florida City apartment for more than 30 minutes on her own.

She's too protective, she says. Dr. Rosa-Olivera says she gives 150 percent.

What would make all their lives easier is a van equipped with a wheelchair lift.

Gail wants Joshua to be able to go parks, visit family or friends or go shopping with her.

She believes that the intellectual stimulation will help him. She wants him to have physical therapy beyond that given to him by the two women.

The doctor agrees.

''This is a family in need,'' he says.

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