By Lois Baron

Last updated December 28, 2000

Sandra Thomas was 35 when she first saw the word that would change her life. She was reading her mother's radiology report following an MRI associated with ovarian cancer and saw, among so many other medical terms, "hemochromatosis". She'd never heard of it, but since the doctors didn't bring it up, Thomas assumed it wasn't important. Thomas' mother, Josephine Bogie Thomas, 63, was battling advanced ovarian cancer, and the cancer was the focus of attention.

Hemochromatosis often doesn't come to light until it causes heart disease, cirrhosis, or cancer.

Since that day, Thomas' life has revolved around the disease. "This is all I do now," Thomas says.

More on Hemochromatosis

Learning About the Disease

Thomas was an entertainer before her mother became ill — a songwriter and singer. "I wasn't medically minded at all," she says. The ovarian cancer and then the hemochromatosis gave her a crash course.

Hemochromatosis often runs in families.

In 1983, when Josephine's hemochromatosis was diagnosed, the family's first concerns were for their own health – hemochromatosis tends to run in families. They all had blood tests to see whether they also had elevated iron levels. (The test available then couldn't show their genetic risk for the disease.) But they also donated blood to research organizations that were searching for the gene that was responsible for the disease.

More on Hemochromatosis in Families

Thomas learned that her iron levels were normal. She also found that her ignorance level was normal: She talked with her friends and family, and found that no one had heard of hemochromatosis. "Obviously, there was a tremendous need for public awareness and education," she says. "We were astonished how prevalent it was; how many people seemed to have symptoms of it, yet their doctors weren't testing them for it."

Early symptoms of hemochromatosis include fatigue, abdominal pain, muscle aches, joint pain, and impotence. What's particularly troubling, Thomas says, is that if doctors recognize the symptoms and provide treatment early on, the disease can be averted. Treatment for hemochromatosis involves regular blood drawing.

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Founding the Organization

The Thomases founded the American Hemochromatosis Society in 1998 to educate the public about hemochromatosis.

The family realized that people would ignore one individual going around saying, "Hi, my mother has this and it can be awful." But through a national nonprofit organization with board members and a scientific pediatric council, the family would have a way to reach the public, and its message would be taken seriously. "We have people as part of the organization who wouldn't lend their names unless they felt it was credible," Thomas says.

Receiving nonprofit status from the federal government took almost a year. AHS also had to register with the state to solicit funds and is committed to a yearly audit. Now the nonprofit organization, of which Thomas is president, runs out of Thomas' home. Her boyfriend, David Snyder, became the vice president, and her father, Joseph Thomas, provides the bulk of the funding. Her mother's picture adorns the AHS Web site, and Baron, her German shepherd, is the society's mascot (because Germans are at high risk of having hemochromatosis).

The organization's funding for 2000 was $168,000, with a lot of it coming from Thomas' father. Snyder says the goal for 2001 is $500,000, with a greater donor base.

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Josephine's Inspiration

Even as the nonprofit was beginning, its inspiration, Josephine, was dying. Doctors found that her hemochromatosis had caused terminal primary liver cancer — a prime killer of hemochromatosis patients.

The family moved temporarily to Pittsburgh from Florida so that Josephine could be treated by Dr. Geoffrey Block at the University of Pittsburgh Medical Center, and up until the end, Josephine was an activist. For instance, the Thomases encouraged Dr. Block to open a hemochromatosis center in Pittsburgh, which he did.

In Josephine's final months, she urged everyone who came to her room — from medical students to nurses to the cleaning lady — to be tested. She didn't want them to end up dying prematurely, as she was.

"She was quite an inspiration to me to continue my work with the American Hemochromatosis Society and try to help others avoid the tragedy our family experienced by losing her," Thomas says.

And when Josephine died, she made sure the teaching continued. Her body was autopsied before medical students, who heard a lecture about hemochromatosis. Slides of her tissue are still used for educational presentations.

"My mother was the greatest fan of the organization," Thomas says.

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Finding the Hemochromatosis Gene

As prominent members of the hemochromatosis community, the Thomases were asked to give blood samples for research by biotech companies searching for the genes that cause the disease. "Often my mother and I would fit the bill for them because she had the double HFE [hemochromatosis] gene mutation and I had the single, so they could use our blood to detect this either way, for the single or the double," Thomas says.

Her mother donated blood to the Scripps Research Institute in La Jolla, Calif., where researchers were searching for the mutation. "Our researcher was not the one to discover it, but he was very, very close," Thomas says.

"There's no question that research in a disorder like this requires the cooperation of patients and their families." — Michael Garrick

Now researchers are trying to develop technology to make testing for the HFE mutation more efficient and more cost-effective, explains Thomas. She is devoted to making the test kit as easy as possible so more people will use it. She's pleased that people now can order a test, use it, and receive results directly from the lab. But she's pushing for refinements.

Unanswered Questions and the Future

"A very important question in the issue of hereditary hemochromatosis is, when people have the gene configuration that leads to the disease, does it always lead to the disease?" he says. "That's a question that's still fairly much unanswered." Researchers need to study a large group of people who have the genetic mutation to see how likely they are to develop the disease. Does everybody with the mutation develop hemochromatosis? One in two? One in ten? At this time researchers don't know.

Garrick says that until society is ready to mandate newborn screening for hemochromatosis in the same way babies must be checked for sickle-cell disease and PKU risk, people must continue to volunteer.

Thomas says she will feel like a success when all newborns are screened for hemochromatosis.

"To say it's obsessive is probably an understatement," she admits.

Thomas calls it rewarding, but her satisfaction is tinged with grief. "The only reason I became involved was because of my mother," she says. And since her mother's death in May 1999, "it's a very sad, ongoing project. But I told her I would carry on. She wanted me to."

Hemochromatosis has changed Thomas' life completely, she says. Would she want it to be different?

Yes, she says. She would like her mother back, whole and well.

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Resources

To learn more about hemochromatosis, we recommend the American Hemochromatosis Society Web site.

References

Personal Communication (2000): Sandra Thomas, president of the American Hemochromatosis Society.

Personal Communication (2000): David Snyder, vice president of the American Hemochromatosis Society.

Personal Communcation (2000): Michael Garrick, professor of biochemistry and research associate professor of pediatrics at the State University of New York at Buffalo.