Saving Amy

For 12-year-old Amy Frohnmayer, the "Race Against Time" is not just a song; it's an anthem.

"I live with hope because I know there is soon going to be a cure," she said. "Doctors are finding things every single day."

Amy has a rare genetic disease called Fanconi anemia. She has just one defective gene but it prevents many of her cells from growing normally. The disease does not stop Amy from leading a full life, however. CBS News first interviewed the Frohnmeyer family some time ago. After Correspondent Jerry Bowen's December visit, 48 Hours revisits the race for a cure again.

But her illness is never too far from her thoughts. "Right now I'm feeling fine. I'm in great health," she said.

"This is something I feel like is a big priority in my life," she noted. "I spend a lot of my time asking my parents what is going on, and I asked them numerous times what the whole disease is."

"We are watching Amy like a hawk," said her mother Lynn Frohnmayer.

Her mother is well aware that Amy's condition leaves her vulnerable to various forms of cancer, blood diseases and other illnesses. "We take her in once every three to four months for a bone marrow aspiration to see if there's any sign at all that she's beginning to develop leukemia," she said.

"This is very much a team effort between spouses," said father Dave Frohnmayer, the president of the University of Oregon. Together, they created a research foundation to help find a cure.

The Frohnmayers have good reason to monitor the disease so closely - two unforgettable reasons. They had two other daughters, also born with Fanconi anemia.

There was Katie. "She was incredibly musical," said father Dave Frohnmayer. "She was always dancing; she was singing....Everything for her was celebration."

Kirsten was their other daughter. "Kirsten was a straight A student, the one who always does the right thing,...just a great kid," recalled her mother Lynn Frohnmayer.

"I remember when she was 14 years old, she remarked to me that she thought she was the luckiest kid she'd ever known," she added. "And this was after she knew she had this terrible disease."

"And I said, 'What do you mean you're the luckiest kid you know?' And she said, 'Well, I've got these loving parents and great friends,'" Lynn Frohnmayer said.

Kirsten died from leukemia in 1997 at age 24 after graduating Stanford University with honors.

Katie "was hospitalized something like 18 times in 14 months," recalled her father. She died from a stroke in 1991 at age 12. Their illnesses were directly linked to Fanconi anemia.

Her mother observed that it'been harder for Amy than it was for Kirsten and Katie. "She knows we've been working for years and years to do something about the illness and in spite of everything we have done, she has lost two sisters," Lynn Frohnmayer said.

"I've lost two of my sisters to this disease...and it's making me scared about what's going to happen to me," Amy said. "My sister Kirsten taught me so much about life, and I'll never forget it," she said. "Katie, too."

Yet medicine has advanced quite a bit since Amy's sisters died. Today there is a promising experimental treatment: gene therapy. Scientists believe they can override a defective gene - such as the one in Amy's body - by introducing a good gene to take its place. If it works, children like Amy would be cured.

"I have no doubt that gene therapy will be one of the major advances of early 21st century medicine because so many disorders can be attacked by this method," said Dave Frohnmayer. "This will be...a tidal wave within the next 10 to 20 years."

That tidal wave was supposed to begin with Lynn Mendenhall, who wrote the song "Race Against Time" about her own struggle with Fanconi anemia. As a woman in her 40s, Mendenhall was the oldest surviving woman in the United States with the disease and the first in line for a gene therapy trial.

Mendenhall, who suffered from mouth cancer brought on by her disease, was close to the Frohnmayers and Amy. Mendenhall once said, "If I were in her shoes, I would be scared to death, too. I think about her a lot. I want this gene therapy thing to work so bad because I don't want her to go through this."

Dr. Chris Walsh, clinical director of the University of North Carolina Gene Therapy Center, was scheduled to place a good gene into Mendenhall's body in January in the hope that it will correct the faulty Fanconi gene. "She's fortunate in that she still has a fairly mild form of the disease," he said.

"She's faced with a percentage chance that she will die from the procedure. One has to take that into account. The flip side: If it works, she could be cured," he added.

"I can die if I don't do it either," Mendenhall said. "So I'd rather die doing something to make a breakthrough and learning all I can in gene therapy.

"She just wants to do everything that she can to help all the children out there with Fanconi anemia," Amy said. "I think that's wonderful, really heroic."

Since 48 Hours broadcast this story last December, Lynne Mendenhall died of cancer. She chose to leave her body to the Gene Therapy Research Center so that she could further gene research in death as she did in life.

For all its promise, gene therapy has yet to cure anyone, and it has caused at least one death.

Last September, Paul Gelsinger's son Jesse, then 18, who had a different life-threatening genetic disease called OTC, voluntered for a gene therapy trial.

Jesse Gelsinger wanted to help babies who suffer from the illness. "I looked him in the eye and said, 'Son, I am so proud of you; you're my hero for doing this,'" recalled Paul Gelsinger.

So Jesse Gelsinger flew from Tucson to the University of Pennsylvania to take part in the trials even though he was relatively healthy and had the disease under control.

"This kid was doing the right thing. You know, it's what we're all supposed to do," said his father.

Just a week after Jesse Gelsinger entered the trial, the drug administered by the doctors triggered a massive immune reaction.

"They pulled us into a conference room and told us the worst, that his brain had died overnight, that we needed to consider discontinuing life support, that Jesse would not be Jesse anymore, even if he recovered," recalled his father.

"Dr. Shapiro came in and disconnected the...unit and the ventilator, turned them off. Steve Raper came in, put his stethoscope on Jesse's chest, listened for about 20 seconds and put his hand on Jesse's chest and said, 'Goodbye, Jess. We'll figure this out.' And that was my son," said Paul Gelsinger crying.

In November he spread his son's ashes on a mountaintop that Jesse Gelsinger loved.

Controversy and caution have followed his death. The Department of Health and Human Services is much more actively overseeing all gene therapy research.

For Jesse Gelsinger, the race to see this therapy work, ended all too soon, as it did for Lynne Mendenhall, and for Kirsten and Katie Frohmeyer.

"It's a race against the clock all the time, and we're just taking it one step at a time," said Lynn Frohnmayer.

"I just have a lot of hope for the future," said her daughter Amy. "I just know that there's going to be something new."