MAKING THE MOST OF NOW\While teen lives with rare disease, parents are funding research\for treatment, cure.

Byline: Jenifer Hanrahan Daily News Staff Writer

Every afternoon, Pam Smith watches her daughter guide her electric wheelchair down the walkway at Calabasas High School. She often imagines a different life for Rebecca, 17.

"Sometimes I look at her and she's so smart and so beautiful," Pam Smith said. "I pick her up at school and park in the handicapped spot, and wouldn't you know, the Calabasas cheerleaders practice right there. Then here comes Becky with her wheelchair and I think, 'If Becky weren't in that chair ...' "

Rebecca has ataxia telangiecstasia (A-T), a degenerative genetic disease that put her in a wheelchair by the time she was 10. When she was diagnosed in 1984, little was known about A-T, and few research dollars were devoted to the disease that strikes one in 40,000 people.

About 500 children have been diagnosed with A-T in the United States. Many are not expected to live past their teens, though some live into their 30s.

"I felt like I had been punched or kicked in the stomach," recalled Pam Smith, 47. "You go through a period where the child you know has died. We all assume we're going to have healthy children that will go off to school and to college and get married."

With little attention being paid to the disease, Pam Smith and her husband, George, 60, began raising funds for research - garnering $2.5 million to date.

Little did they know how far that money would go. A consortium of doctors announced in June that its members not only had isolated the A-T gene, but gained new insight on hereditary cancer.

People who are carriers of a mutated form of the gene, dubbed ATM for ataxia telangiecstasia mutated, are predisposed to cancers of the lung, skin and pancreas. Doctors also believe the ATM gene may be the single largest hereditary cause of breast cancer, accounting for up to 8 percent of cases.

As many as 1 percent of Americans - more than 2 million people - are carriers of ATM. When children like Rebecca inherit the defective gene from both parents, they have a one-in-four chance of developing A-T (the Smiths' other child, Matthew, 13, doesn't have the disease).

About 40 percent of children with A-T develop cancer, mostly lymphomas and leukemia. Immune system deficiencies often result as well.

"It's the kind of thing that doesn't happen every day," said Dr. Richard Gatti, a leading A-T researcher at the University of California, Los Angeles. "Here was a family that really wanted the help and felt they needed science to help with their daughter's problem.

"They were willing to go ahead with it on the basis that if it didn't help her it would help many people," Gatti said.

Even so, a treatment for A-T sufferers could be years away - maybe too late to help Rebecca.

"I thought, 'Why do all of this if it's not going to help Becky?" said Smith, a partner in a Century City real estate investment banking firm. He has donated $1.5 million from his own bank account to the cause. "But if I didn't, I couldn't live with myself."

When she was born, Rebecca behaved just like other babies. By age 2, however, she still was clutching tables for balance. Doctors thought she had a mild case of cerebral palsy.

By Rebecca's fifth birthday, the prognosis worsened: She was diagnosed with A-T, a disease first discovered in 1959 that had no treatment and no cure.

Desperate for more information about the disease, the Smiths called doctors, geneticists and officials from the National Institutes of Health - all of whom told the couple there was no government money to research such a rare disease.

"I wasn't mad," George Smith said. "I understood, but it was going to be that much more difficult. If we were going to do anything, we were going to have to do it on our own."

That's when they founded the A-T Medical Research Foundation, the first of its kind in the field. George Smith put his connections to work and asked wealthy business associates for donations. His wife organized an annual benefit luncheon that raises $50,000 to $70,000 a year.

In 1985, they sponsored and organized the first international A-T conference.

Around the same time, UCLA's Gatti, who was researching cancer genetics, was rejected by the National Institutes of Health for a grant to study the A-T gene. That's when the Smiths stepped in and gave him $100,000 to fund his lab for a year.

The first major breakthrough in finding the gene came in 1989, when Gatti located the gene on a particular area of chromosome 11. Yet it was Israeli researcher Yossi Shilo, aided by associates in other countries, who ultimately isolated the gene in his Tel Aviv University lab. The Smiths had been providing Shilo with money, as well.

"The process of the discovery on this gene has sped up tremendously. Where we waited a year before, we now wait a month, and that's all thanks to the Smiths," Gatti said.

Now that the A-T gene has been isolated, researchers are trying to develop a screening test for carriers - all the more urgent, since ATM causes extreme sensitivity to radiation in X-rays and some cancer treatments, Gatti said.

However, there is no reason yet to believe the risk of radiation in mammograms outweighs the benefits of the tests in large populations, Gatti said.

Interest within the medical world has burgeoned since the A-T gene has been cloned.

"They're (researchers) coming from everywhere," Gatti said. "They want to work with us. Now instead of (a select few) we've got another 500 or 1,000 people."

That fact, alone, gives the Smiths hope.

"For the first time, I'm actually optimistic," George Smith said. "If we can just find a way to stabilize the condition, we can keep it from getting worse. That for Becky would be a miracle."

Rebecca - who prefers to be called Becca - wants to be treated like a regular teen-ager. She's given presentations to classmates to explain how A-T affects her ability to walk and to speak clearly.

She even distributed her own book of poetry dubbed "Calling Out My Name" to help them understand. She writes about sunsets, reflections of summer and a tribute to L.A.

"A lot of people before they know what it is just look at me weird," Rebecca said. "They won't ask me anything. The younger kids just point. I want them to treat me normal."

Friends like Rebecca Miller, 18, help ease the solitude. The two youths talk on the phone every night and go to the mall, movies or have occasional sleep-overs.

"She has a sense of humor, and her smile opens up my heart," Miller said. "She's always happy. Just because she can't walk doesn't stop her."

Rebecca relies on her mother for dressing and bathing, as well as for transportation, because her disability prevents her from getting a driver's license. She finds a sense of freedom, however, in riding horses - an activity she took up when her family moved to Hidden Hills from Bel-Air a year ago. With help from a therapist, "I ride every chance I get," she said.

She tries to stay positive, but she gets frustrated. It's difficult to read because her mind works faster than her eye muscles. She uses large-print books or has her mother read her assignments aloud, while an aide stays with her throughout the school day to take notes.

So far, Rebecca has avoided illnesses such as pneumonia, an infection that would indicate her immune system is weakening. Last year, she had a malignant skin lesion removed from her back, but since then, things have been stable.

While her parents continue to throw their energy into finding a treatment, Rebecca is not getting her hopes up. She has lived for most of her life with the disease and has a hard time imagining life any other way.

"I've learned to live with it, to make the best of it," she said. "I don't know how it's going to help me. I don't know what the future is going to bring."

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Photo (1--Cover--Color) George and Pam Smith with their children, Rebecca and Matthew (2) "I felt like I had been punched or kicked in the stomach," says Pam Smith, left, with her daughter, Rebecca, when she learned that Rebecca had been diagnosed with ataxia telangiecstasia (A-T). Tina Gerson/Daily News (3) A-T researcher Dr. Richard Gatti was given $100,000 by Pam and George Smith to fund his lab for a year. Gus Ruelas/Daily News