Ride For Life: Doctor with ALS holding on to hope

GRANGER, IN -- A diagnosis of ALS is something Dr. Faye Magneson never wanted to have to give a patient.

Not only is it technically difficult to pin down, it's the kind of bad medical news that can't readily be followed up with an encouraging plan for treatment.

The disease involves progressive degeneration of motor neurons, the nerve cells that control muscle movement. As the nerves go, muscles throughout the body begin to atrophy.

The one treatment approved for ALS extends life by about five months, but most people with the disease succumb within two to four years after diagnosis.

"It's the one diagnosis I never wanted to make,'' she said.

Four months ago, Magneson left her practice and began dealing with a diagnosis of amyotrophic lateral sclerosis from the other side of the stethoscope: as a patient.

Because existing medicines for ALS are so weak, she's looked for hope in medicines yet to be invented.

Magneson said a lot of research is going into ALS now and that better treatments, maybe even a cure, are on the way.

"There is so much hope in this field at this point.'' Magneson said. "Hope is what it's all about because you have to have that to keep putting one foot in front of the other.''

Magneson said she was encouraged by what she heard at an international meeting of ALS researchers in December in Philadelphia.

Scientists are learning more about what causes a person's motor neurons -- the nerve cells in the brain and spinal cord that control muscle movement -- to suddenly begin dying off in people with ALS.

An encouragingly large number of potential medicines, about 20, have made it to clinical trials, according to James Heywood, director of the non-profit ALS Therapy Development Foundation. Clinical trials are the latter stage of drug development in which tests are conducted in people with the disease.

But there's a long way to go. While the medicines now in trials are promising as treatments, none of them has the potential to stop ALS in its tracks and cure it, he said.

"We have not reached the 'Aha!' yet,'' Heywood said, referring to the moment of discovery when a disease yields its deepest secrets.

Magneson said she's also been buoyed by an awesome response to news of her illness from friends, colleagues in the local medical community and, most numerous, former patients.

She estimates she's received 4,000 cards from well-wishers since announcing her retirement from practice at South Bend Internal Medicine last fall.

Supporters have not only rallied to her side, but also to the cause of ALS research.

Her younger daughter, Kristin Seiffert, organized a team to walk in a fund-raiser for ALS research in Washington, D.C., where she attends Georgetown University.

Older daughter Ellen Seiffert not only joined Kristin's walking team in October, but also told a friend about it who works at a national magazine called Kiplinger's Personal Finance. That turned out to be a lucky connection; Kristin's team was featured in an article on how people are using the Internet for fund raising.

Magneson's two sisters and a group of friends have formed "Friends of Faye,'' which is attempting to raise $100,000 for the Boston-based ALS Therapy Development Foundation. "Friends of Faye'' is already about two-thirds of the way to its goal.

Magneson said she noticed the first symptom of what would turn out to be ALS in October 2003. Muscles in her right leg started twitching and felt weak after a game of paddle tennis, one of many sports she has enjoyed playing.

From the start, she suspected it might be ALS but always hoped that tests would find a different cause for the persistent weakness.

"ALS was my biggest concern,'' she said.

There's no direct test for ALS, which affects about 30,000 people in the United States and causes 5,000 deaths per year.

The disease is diagnosed finally only after a host of tests rules out all other probable causes. Such exclusionary diagnoses are hard to make. Some people diagnosed with ALS actually have something else.

For Magneson, the process -- including numerous scans, nerve conduction tests and muscle biopsies -- was not completed until August, nearly a year after the first symptom appeared.

An ALS diagnosis can be grim because the disease may progress rapidly. As the motor neurons die, muscles atrophy throughout the body. People with ALS may eventually become unable to move, speak or even breathe on their own.

But some beat the odds and live for a long time with ALS, with their minds intact. The mind and senses are usually spared.

That's another reason for hope, Ellen said.

"It's important to know that although this is considered a two- to four-year disease, there's this 10 percent to 20 percent of outliers who live much longer."

The most famous example of someone living a long time with ALS is the physicist and author Stephen Hawking, who's lived for 17 years with the disease, Ellen said.

Magneson's said her symptoms have progressed very slowly. Although she no long plays tennis, she can swim and is by no means physically disabled.

"I can do anything I did before except tennis,'' she said.

She could have continued to practice medicine at South Bend Internal Medicine, where she's had thousands of adult patients during an 18-year career. But given the uncertain course of the disease, it was a good time to pull back and reorder her life, Magneson said.

While she no longer practices medicine, Magneson continues to teach a course at the South Bend Center for Education, a regional branch of the Indiana University School of Medicine located at the University of Notre Dame.

Her course covers the clinical exam, the part of diagnostics that involves direct personal examination and conversation with the patient.

Magneson said she's always enjoyed teaching medical school students. She's been doing it ever since she started practicing medicine in California 25 years ago.

She believes her experience facing a largely untreatable disease will make her a better teacher.

"As a physician, you try to walk with your patients and be there for them,'' she said. "But until you experience it yourself, as a patient, you never really know what it's like.''

Physicians, of course, prefer to offer potential cures, or at least treatments that are effective in extending life. But even in diseases like ALS, physicians still have an important role to play, even if they can't ride to the rescue armed with miracle medicines.

"Doctors want to fix things,'' she said. "I wanted to do that. But there are many diseases that don't have cures.''

When effective medicines are available, people often think of their experience with a disease as a "battle.'' But people with ALS may think about it differently, sometimes referring to their experience of the disease as a "journey.''

"Patients want their doctors to be there for them,'' she said. "You can't give up on them.''

Magneson, who is married to Dr. Thomas Seiffert, a South Bend radiologist, said she and her family have put no time limits on their view of her future.

She's looking forward to teaching in a new building, still under construction on the corner of Notre Dame Avenue and Angela Boulevard, that will house the local branch of the IU medical school.

Ellen has applied to IU medical school herself for possible enrollment this fall. She even may wind up being in one of her mother's classes.

"No question, going through something like this makes you a stronger teacher,'' Magneson said. "You bring your experience to the classroom."