Rose Bowl opponents team up to raise awareness of rare blood disorder

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• GWEN IFILL:

  Tomorrow, on one of college football's biggest days, the focus will be on sport, but also on a very different kind of battle, the special challenges faced by those diagnosed with a rare disease and their families.

  Hari Sreenivasan has the story.

• HARI SREENIVASAN:

  There's even more at stake than usual in tomorrow's 101st Rose Bowl game. The number-two Oregon Ducks will face the number three Florida State Seminoles for a spot in the national title game.

  But the schools and their supporters are also finding common ground off the playing field, in fighting a rare blood disorder called Fanconi anemia. It affects fewer than 1,000 Americans. But, as fate would have it, both Florida State and Oregon's communities have been affected.

  On the Florida State side, Ethan Fisher, 9-year-old son of head coach Jimbo Fisher and his wife, Candi, suffers from the disease. Fisher has pushed for increasing awareness.

• JIMBO FISHER, Head Football Coach, Florida State University:

  That's how things are defeated. You have to present them. You have to bring them to the forefront so people can help you. And that's the way so many other diseases in this world have been conquered. And that's our goal. We're going to conquer this disease. It's not going to define Ethan or our family, and we're on a mission to find a cure.

• HARI SREENIVASAN:

  Former University of Oregon president Dave Frohnmayer and his wife, Lynn, have lost two children to Fanconi anemia, and a 27-year-old daughter is now fighting the deadly disease. Both families have created and helped fund research organizations, the only two in the United States for Fanconi anemia.

  And during tomorrow's Rose Bowl, every time a team scores a touchdown, their respective research organizations will receive a donation. It's just one example of high-profile individuals combating underfunded diseases. Among others, former NFL quarterback Boomer Esiason has a foundation that helps those with cystic fibrosis.

  So how do people afflicted with the rare disease manage to fund medical research, track down specialists or find treatment regimens? And how much can a national stage like the Rose Bowl game help to draw attention to their cause?

  For those and other questions, I'm joined by Lynn Frohnmayer and David Frohnmayer, co-founders of the Fanconi Anemia Research Fund, which they started in 1989 after their children's Fanconi anemia was diagnosed. And Dr. Marshall Summar, he is a research scientist and chief of genetics and metabolism at Children's National Medical Center in Washington, D.C., and is a rare disease specialist.

  So, Mr. and Mrs. Frohnmayer, I want to talk to you first.

  How big of a deal is the Rose Bowl national stage, so to speak, to raise awareness of Fanconi anemia, or F.A., as it's called?

• DAVID FROHNMAYER, Co-Founder, Fanconi Anemia Research Fund:

  Well, any chance you get to put something in the public eye that's very important, but very rare and poorly understood, you take that chance, you take that opportunity.

  And, of course, the Rose Bowl is something that interests tens of millions of people. It happens to involve my former university, where I presently teach, University of Oregon.And it involves another family across the country who have been devoted to trying to cure Fanconi anemia as well.

  So this is an opportunity to make a case, not only make a case, but to show the human impact, the human side of the story, to raise awareness and to raise the possibility of philanthropy, because medical science has advanced so rapidly in addressing this disorder once attention was focused on it.

• HARI SREENIVASAN:

  Dr. Summar, that attention, focus, there are 7,000-plus rare genetic disorders out there. And I'm going to feel a little callous saying this, but it's almost the best thing that can happen is a celebrity gets it.

• DR. MARSHALL SUMMAR, Children’s National Medical Center:

  In many ways, there's some truth to that.

  But, actually, all of these disorders benefit from the attention to one of them. If you take the 7,000 different disorders we're talking about, they will affect something like to 8 percent to 10 percent of the U.S. population, so you're talking 25 million people with some form of a rare disease.

  But no one's heard or usually has not heard of most of the individual diseases, like Fanconi anemia. Many folks, this will be their first exposure to this.

• HARI SREENIVASAN:

  It was mine, yes.

• DR. MARSHALL SUMMAR:

  Yes.

  And what many folks find is, after they hear that, they go, oh, wait, I might have known someone who has that, or this is something that touches me in some way, or I have met someone along the way.

  And the knowledge gets out. It helps with both the funding. It helps with the research. It helps us move things along. And so when one disease kind of gains this type of notoriety, and obviously the Rose Bowl, was a premier place for that to happen, it actually helps out the entire community.

• HARI SREENIVASAN:

  Mm-hmm.

  So, Lynn Frohnmayer, I want to ask…

• LYNN FROHNMAYER, Co-Founder, Fanconi Anemia Research Fund:

  Yes.

• HARI SREENIVASAN:

  … what happened before the Rose Bowl, right, all these years that you didn't have this national stage, so to speak? How did you get people interested, get people committed, especially on the research side?

• LYNN FROHNMAYER:

  Well, Hari, it took a long time, to tell you the truth.

  Our daughters were diagnosed in 1983. And the first thing that we had to cope with was the devastation of this kind of a diagnosis. We were told that they would experience bone marrow failure, perhaps leukemia, that they probably wouldn't live to adulthood, that there were really no effective treatments or a cure for this disease.

  Bone marrow transplant outcomes were absolutely dreadful back then. And we were told that, if they did live to adulthood, they were at very high risk for cancer. So the first thing we had to cope with was this absolutely devastating news that, ultimately, all three of our daughters — we had five children, three with Fanconi anemia — had the same dreadful, dreadful disease.

  It took us two years to form a family support group. And we did that in 1985. And it wasn't until 1989, six years after the diagnosis, when we finally had the courage and the strength to begin to work on, OK, what can we do about this horrible diagnosis? You have got to be able to pick yourself up off the floor, dust yourself off and say, what can we do to make a difference?

  And we were able to do that finally, but it wasn't overnight, not at all.

• HARI SREENIVASAN:

  Dr. Summar, what about these other 7,000 diseases? How do they gain kind of attention, especially from the pharmaceutical companies, right?

  I mean, I hate to be a capitalist about it, too, but where's the market? If it's only 1,000 people or 500 people, do drug companies say, OK, we will take that risk and we will put in all that money into research and development and try to find a cure, vs. going after diabetes or cancer, right?

• DR. MARSHALL SUMMAR:

  Well, that's actually a great question, because, historically, they didn't. They stayed away from the rare disease field. They figured there weren't that many patients. There wasn't much market.

  A group of folks got together about 35 years ago and passed something called the Orphan Drug Act, or the Orphan Disease Act. And it actually created a set of market incentives, including exclusivity around the use of the drug, exclusivity on the patent for additional years, things like that, that suddenly made it financially and economically viable for companies to come into the rare disease field.

  Now, we are actually seeing a lot more interest now. We're actually seeing a growth of the rare disease market, expanded 25 percent to 27 percent per year, whereas the regular drug market expands at a rate of about 20 percent to 23 percent.

  Why? Well, after we did the human genome, one of the things we found is that common diseases were separating into smaller and smaller groups. So, take pancreatic cancer. Suddenly, you have numerous genetic subtypes of pancreatic cancer that became rarer and rarer, same thing with prostate cancer and others.

  So, in many ways, the common disease market is starting to represent or look a lot like the rare disease market. So, many of the pharmaceutical companies now recognize that there's a spectrum here between the common diseases and the rare diseases and they need to be in both markets.

  So we're seeing a lot of interest, a lot of investment in that market. There's probably one other thing that draws folks in, too. And let's take Fanconi anemia — Fanconi anemia for an example.

  When we learn something about Fanconi anemia, we learn something about what can cause cancer, what can cause bone marrow failure. So our families, our very, very brave patients and our very, very brave families are often our best teachers in the field of medicine about things, because, by having maybe one gene, two genes that cause a disease — it's 15 genes, actually, in Fanconi anemia, roughly — we learn a tremendous amount about what happens, what happens with bone marrow failure, what happens with cancers.

  Down syndrome is a great example, too. The first genes that were mapped for Alzheimer's were learned of because in Down syndrome, about half the patients in their 20s to 30s develop an early onset form of Alzheimer's. So we knew where to look.

  So, all of these diseases, all 7,000 of them, are teaching us something for the rest of the population.

• HARI SREENIVASAN:

  David Frohnmayer, what about when you are starting out and you find out this devastating news, after you get over the grief? What sort of a support network exists? How did you decide to model your foundation and get into it and make sure that you weren't kind of replicating the work that others had already done?

• DAVID FROHNMAYER:

  Well, actually, it's a good question.

  There wasn't anything else for Fanconi anemia. And a researcher, Dr. Arleen Auerbach at Rockefeller University, suggested that Lynn and I form a support group. So this was pre-Internet, pre-Web days.

  We actually wrote letters. We send out — visited medical centers. We recruited families. And then, through this slow process, it then ballooned into faster and faster networking that got together.

  We also had enormous help from Dr. Nancy Wexler and the Huntington's disease people, who had formed a hereditary disease organization maybe 10 years before ours. And they were very generous with us. They shared ideas. They told us the importance of getting scientific expertise of the very top quality. They talked about bringing peer review in. They talked about having cross-disciplinary scientists, because all these diseases are tremendously complicated, and there's not a single medical specialty that addresses every one of the phenomena of Fanconi anemia.

  So we had some good models. And people have modeled their orphan disease efforts after those that Lynn and I have helped to sponsor. So, I think there's a community out there of people who say, you know, we can't go it alone, we will learn from others, we don't want to reinvent the wheel, and if we copy well and improve, that that's one of the basic things we can help to do to improve human health more generally.

• HARI SREENIVASAN:

  Dave and Lynn Frohnmayer and Marshall Summar, thanks so much for joining us.

• DAVID FROHNMAYER:

  Thank you.

• LYNN FROHNMAYER:

  Thank you, Hari.

• DR. MARSHALL SUMMAR:

  Thank you.

• GWEN IFILL:

  You can find more about Fanconi anemia and other rare diseases and the organizations that help fund and support their treatment on our Web site at PBS.org/NewsHour.