The Leonard Lopate Show
"Rare Strains" (interview Amy Farber, Abbey Meyers - NORD)
Thursday, July 28, 2005


Leonard: Hi, I'm Leonard Lopate, and welcome to my show. Today as part of our Underreported series, we're going to take a look at rare diseases. Although there are over six thousand rare diseases, you probably haven't heard of most of them. There are no organized walks to raise money for them; many have names we can't even pronounce. And yet almost one in ten people in the United States has been diagnosed with a rare disease- nearly all of them incurable. Abbey Meyers is the founder and president of NORD, the National Organization for Rare Disorders. She joins me now, along with Amy Farber, who was diagnosed this past April with one of those rare diseases, Lymphangioleiomyomatosis, or LAM-- it's really hard to pronounce-- but it is a lung disease that afflicts women in their childbearing years. I'm pleased to welcome Abbey Meyers and Amy Farber to my show today. Hello!

Abbey: Hello.

Amy: Hi.

Leonard: So Amy, what is LAM, and how many people have it?

Amy: Ok, so lymphangio-ly-haha I can hardly pronounce it--lymphangioleiomyomatosis is the name of the disease, you can remember it as LAM: L A M- no "B." It is a fatal lung disease and it affects women- what happens is women suffocate to death, it's really that dramatic. And currently, there's no effective treatment, but the disease is understood to be similar in many ways to a benign cancer. So that means that smooth muscle cysts, they obstruct your airways and overtake the lungs, and then the body experiences what people call "air hunger." And so it results in the need for oxygen and then premature death is the majority--the result in most cases.

Leonard: You say "in most cases"- so some people do survive?

Amy: It's not quite clear- it's a lot of what's gone on with this disease, especially in terms of the number of sufferers, is that we just don't know how many women have LAM, we just don't have good information about how long people live with it. We do know the current estimates are that there are over 250 thousand women with LAM. It's so hard to diagnose and we just don't know though.

Leonard: So how did you learn that you have it?

Amy: Well, um, basically, I was married last August and my husband and I were in the very last stretch of our training- our long training careers. Michael is doing- he does medicine and sociology; I do cultural anthropology and the law. So, last December I turned 35. I was experiencing back pain and fatigue, and my body just felt odd, and it seemed to linger. We were planning to begin a family and we were extremely excited about that and we wanted to be sure that I was healthy, so when my initial tests and even a chest x-ray came back normal at the doctor, I kept prodding my doctor and saying that something near my kidneys just doesn't feel right, and telling her that I knew my body well and this was just not OK. You really need to be aggressive with doctors. So finally I had a CT scan of my kidneys, and the results showed a tiny mass near my left kidney and small scattered cysts in the base of my lungs. My primary care person immediately referred me to a pulmonologist. And then sitting in the pulmonologist's with my husband- my husband who had done a lot of research on all the possible diagnoses based on the CT scan findings-- the three of us were looking at the CT scans of my lungs supposedly, but I couldn't bear to look at the images, so anyway I just watched the faces in the room around me. My husband asked if this could be due to the moisture in the basement apartment in which we lived- was it possibly due to mold, and gently the highly regarded pulmonologist nodded at us and said no. Watching Michael, watching me and the CT image was heartbreaking. Michael, who is a doctor, was so desperate to rescue me, to fix this, and he couldn't. Um, so basically what happened then was- basically I went, well most thoracic surgeons, or the thoracic surgeon that I saw wanted to do a lung biopsy to get a definitive diagnosis of LAM. And this was really off- putting to me because I thought the likelihood that this was LAM was pretty high, given the way that everyone was breaking this news to me of the CT scan findings, and I was up all night having nightmares, trying to get a grip on not wanting a diagnosis of LAM but also not wanting to live in the space of uncertainty. So, basically, Michael read up on the available literature, did an Internet search, a PUBMED search and got in touch with a doctor leading a study at the NIH, National Institutes of Health. It was late February then and then we were only able to get an appt at the NIH for mid-April to take part in a screening protocol- no treatment, just screening. So then there were some months of uncertainty, painful testing, lots of experts, a time in which I really had no voice to speak, no good way of listening or taking in information, making all sorts of deals-- with many gods at the time. LAM is associated with brain tumors and I hadn't yet had a brain scan, so I was incredibly terrified. Then I spent 4 days as an inpatient at the NIH clinical center in Bethesda, Maryland. And I received the tragic and definitive diagnosis of LAM. As far as what might help to slow the progression or anything like that, I was told to exercise, take my multivitamins and my vitamin D with Calcium, to avoid soy due to its high estrogen content, and then I was advised that many clinicians feel that pregnancy accelerates the disease. We don't know what makes the disease progress, and that critical research hasn't taken place.

Leonard: But obviously it's linked to being in the childbearing years and since you should cut down on estrogen, aren't there drugs to lower estrogen levels in people?

Amy: There have been experiments done where women have had their ovaries removed; they've had progesterone therapies. None have proven to be conclusively effective across the board. And so although there clearly is an estrogen component in what's gone on, because only women get this disease, how it works and how that's modulated through a pathway that leads to cell proliferation- again, this is like a benign cancer- is really unclear. We do know, however, some of the important pathways involved, and we do have some knowledge and on that front there is good ground and good momentum for further research if our funding sources were increased.

Leonard: Amy, let me bring Abbey Meyers in here. Abbey, you're the president of the National Organization for Rare disorders, but I gather you hadn't heard of LAM before we invited you on the show. Should we be surprised, because there are an estimated 6,000 rare diseases out there?

Abbey: Right. LAM is a disease that's on our rare disease database which you can see on our website. So we have been aware of it, it's just a matter of not having memorized all 6000 diseases. But there are many. And Amy was very lucky, more than lucky, because she was well educated, she and her husband understood medical language, they were able to do their own research, and get some understanding of where the best places would be to look for somebody doing research or having more knowledge about LAM and the support group has been started for LAM which means that patients are able to talk to each other and that's going to help tremendously.

Leonard: How did you get involved in the issue of rare diseases?

Abbey: I have 3 children with a genetic disease, and my oldest son was taking a drug back in the 1970s and the manufacturer decided not to make it anymore because there weren't enough people with the disease, it wasn't a big enough market so the manufacturer felt it wouldn't be profitable enough. And that was just so appalling-

Leonard: But I suspect that's a problem that many people face, if they're in a small group with a rare disease, even if there is an effective drug.

Abbey: Not anymore. We got together with a group of support groups for rare diseases and we all were determined to solve the problem because all of those groups are out raising money for research on their diseases and they found if somebody discovered some type of treatment, nobody would make it so we all worked together and we got a Federal law passed-

Leonard: The Rare Disease Act-

Abbey: No, the Orphan Drug Act

Leonard: Oh, uh huh.

Abbey: The Orphan Drug Act, and that gave incentives to pharmaceutical companies to develop these drugs and at the same time in the early 1980s the biotechnology industry was just starting up and they saw orphan drugs as a very opportune thing to get into, because they could do small studies that weren't so expensive and the biotechnology industry more than other sectors of the industry has been very active in orphan drug development, so if a treatment does show evidence of safety and effectiveness now, we can find manufacturers to develop it.

Leonard: What's the working definition of a rare disease?

Abbey: The law says any disease or condition that affects fewer than 200,000 Americans. Some of them are very well known, like hemophilia and muscular dystrophy, but most of them are things like LAM that nobody can pronounce.

Leonard: And are most of them genetic?

Abbey: Um , yes, more than half are genetic, but not all of them. For example, with LAM, we have absolutely no idea what causes it. It affects only women-- there are a number of diseases- autoimmune diseases- that affect women much more than men. Those are diseases where the body's immune system, which usually fights off viruses and bacteria, instead of fighting off these invading organisms, it starts to affect your own healthy tissue.

Leonard: And I assume there are other rare diseases that affect only children and others that affect only males.

Abbey: Exactly, yes.

Leonard: What about mortality rates for people with rare diseases, how do they compare with the more common diseases that we know about?

Abbey: We don't know about mortality rates, because there's been no epidemiological studies of this whole field. Epidemiology is when you look at a disease and you try to count how many people within a certain population would have the disease and then you multiply that and extrapolate how many people have it, and there really has not been any. With LAM there's only four or five hundred people within the medical literature that have been reported on so we have no idea how many people have it, and it would be just a guess.

Leonard: And as you said earlier, Amy is well-educated and so she knew where to look for information, but I'm assuming there are a lot of people out there who are just terribly afflicted in their lives and have no idea why because they have no way of finding out.

Abbey: It's true. The saddest cases that we hear about are people who don't have a diagnosis and many of them go for years without a diagnosis and unfortunately we can't help people who don't have a diagnosis.

Leonard: I know somebody who went through that and was basically told that she was imagining things, that it was her problem, not the medical profession's problem, until they figured out what it was.

Abbey: That seems to happen mostly to women, again, after a doctor looks into a lot of things and rules out a number of diagnoses, they say it must be all in your mind and it's very sad when that happens.

Leonard: We will take a little break here and come back with more from Abbey Meyers, president of the National Organization for Rare Disorders and Amy Farber, who has LAM. By the way, if you'd like to know more about some of these rare diseases or get more information on LAM we have an awful lot of information available on our website, that's on our show page at wnyc.org. Stay with us.

(Music)

Leonard: We're back with Underreported's look at rare diseases, and our guests are Amy Farber, who has LAM, a very rare disease, and Abbey Meyers, who is the president of NORD, the National Organization for Rare Diseases. Amy, what has, beyond the fact that you have had pains and other problems, what has life been for you with this disease? I know your family is in L.A., and I have heard that flying is a problem for people with LAM.

Amy: Well, first I wanted to just follow up on one point that Ms. Meyers made- it was that indeed, the average patient with LAM goes four years without a diagnosis and in general they get misdiagnosed as having asthma or bronchitis, so there really is this problem of getting the word out to doctors and the lay public.

Leonard: And would treatments for asthma and bronchitis be a problem for some women with LAM?

Amy: They might palliate the symptoms, but in general it wouldn't be a problem but it absolutely wouldn't address the underlying disease and in general, by masking it, they could in fact mask disease progression and therefore not be doing the proactive things, though they are limited at the current time, do the proactive things like avoid estrogen, not take birth control for instance, don't get- consider very seriously getting pregnant. A lot of women find out they have LAM when they're pregnant and doctors, many doctors encourage them to abort, which of course poses them with a major dilemma. Um, but I also wanted to say, just segueing into the question you asked, as harrowing as this whole diagnostic experience was for me, it was, as Ms. Meyers said, it was exceptional and I chalk that up to having been at Harvard, and you know, I meant-- there's absolutely- yes, that was an exceptional journey and still quite harrowing, so as far as my symptoms and pain go, currently, I again, when the symptoms aren't in my lungs, I find that I can palliate the symptoms, meaning the irritation or the swellings in my body, I can palliate those with pain relief. But what is so terribly frightening is feeling increasingly short of breath, and that, the helplessness and the feeling of not being able to breathe, that has led me to a tremendous amount of coping through action. And my family in L.A., as you've mentioned, they've been heroic, they've been tremendous, and it's really the extended family, it's been people from my high school, 10 years of high school classes have come together, it's been a massive letter-writing campaign to expand the circle of people who know about LAM and who care about it and who begin to open their eyes to the relevance of understanding LAM to understanding cancer. LAM is not an immunological disease as we understand it, we do know enough about the molecular pathway and the genetics to know that the irregular cell growth and proliferation, it leads to what can really be understood as a benign cancer type of proliferation, so it has a lot to teach us about cancer.

Leonard: Well benign usually means a non-dangerous cancer, but obviously in this case it doesn't.

Amy: Right, so in and of itself it's not a malignant issue, it's the fact that the proliferation happens in your lungs that makes it problematic. So that's the difference. So it's right on the cusp between a benign and a not-benign malignancy, but it's also a dumb cancer in that sense. It's easier to study than cancer.

Leonard: But as I said earlier, there are problems if you need to fly and often people fly to seek out treatments.

Amy: Right. Here's the- I'm an exception I believe on the flying, the flying issue. Your lungs tend to- there's an increased risk of lung collapse if you enter into funky pressurization situations, and flying is one of those. I have been incredibly risk-averse, because I have not had a lung collapse yet. Most women who have LAM have already had a lung collapse, and some of the women with LAM have already have had a procedure that glues their lung to their chest wall and makes it more difficult for it to cave in. I'm eager not to go down that road so I'm being very cautious and not going onto airplanes, and that's a choice I've made now. There are great costs to it given that my husband is South African and my family is in L.A., so there's a lot of limitations that that's imposed, but for now, it's just not one of the risks that I'm taking.

Leonard: Do you have a support group other than your family, other people who have LAM or who have family members who have LAM?

Amy: Well what I've done is there's really three major - aside from my family and my friends, that network- there's three major sources of support that I draw on. The first has been Harvard, and Harvard has just been absolutely tremendous, individually and institutionally, they've come- their caring and bright researchers, who at first gave us a somber story, many of whom Michael and I know from our work at Harvard Medical School, have rallied and they've referred us in response to our many inquiries, they're helping us to set up a working group on LAM. Senator Barbara Boxer's office has been amazing. The LAM Foundation- it was founded single-handedly in 1995 by the parents of a young woman like myself diagnosed with LAM. The foundation is run by four dynamic and amazingly passionate and scrappy women. They work out of a basement in Cincinnati, and they work 24-7 and basically they've done tremendous things with the little bits that we've had, and what we've done- they've done everything from setting up national databases with medical information, they've promoted and funded incredible research that has helped us to make dents into the disease. They do have a listserv that supports patients as well, and people use that listserv in different ways. They've done wonders but it's really time to scale up the campaign to a place that will really bring about treatment. So that's sort of the message here, is that this- actually researchers think that this disease is incredibly interesting and that it can be cracked; we just need to step up funding and awareness immediately.

Leonard: My guests on the Leonard Lopate show here on our Underreported series are Amy Farber, who has LAM- I'm going to try to pronounce it- uh the full, name- Lymphangioleiomyomatosis- did I come close?

Amy: You sure did!

Leonard: And she's joined by Abbey Meyers, who's president of the National Organization for Rare Disorders, NORD. This is WNYC 93.9 am 820, we're online at wnyc.org. Abby Meyers, is what Amy describes pretty much the situation for most people with rare diseases- a two-pronged problem: one, that they have to get more people aware of their situation, and two, that they have to convince people to spend money on research?

Abbey: Well, yes, and that really shows the importance of a support group that can get people together in a orchestrated effort to do something about the disease, whether it's fundraising so that the foundation can fund research directly, or whether it's trying to convince the government to spend more money on the disease, and there's always a lot of lobbying going on in Washington by the support groups to try to get language into the appropriations report for the National Institute of Health- to force the institutes to pay more attention to that disease.

Leonard: What legislation is in effect right now?

Abbey: Well every year the congress has to appropriate money to the National Institute of Health-

Leonard: And that's the major source of research and support for people with rare diseases?

Abbey: That's right, that's right. We do have a government office at the National Institute, we have the Office of Rare Diseases, and they do a wonderful job with very little money, I think they get something like 15 million a year, and they have forced the many different institutes that cover many different types of diseases to cooperate with each other and to chip in to get research started on some of these diseases, and it's very difficult because there's no focus on one disease, what they've done is said there ought to be, for example, more research on rare lung diseases, and will force the institutes to chip in and create a central resource for rare lung diseases. And they've done that for a number of groups of rare diseases. There's also a little bit of money at the FDA under the Orphan Drug Act for orphan drug research grants, and that covers not only drugs, it could be medical devices and even medical foods, and that's another 15 million that the FDA awards to academic scientists who are studying new treatments for rare diseases and once they do those government-funded studies, which is only about 2 or 3 hundred thousand dollars a year, if they get enough evidence that the treatment works, they can then go to a company for commercial adoption of a product.

Leonard: You said 15 million dollars of the NIH budget goes to that-- what percentage of that budget is that? Do you know, of the whole NIH budget?

Abbey: Oh, they have several billion dollars a year, so it's very tiny. But each institute may have certain research grants on rare diseases. The way the institutes are set up, you know, there's one for neurology, there's one for arthritis and muscular-skeletal diseases, and so each one of those institutes may fund something on a specific rare disease. But the coordinated effort from the office of rare diseases is only 15 million.

Leonard: Some people argue that it's less cost-effective to spend lots of money on research for rare diseases like these when so few people are afflicted by them.

Abbey: Well that is a major problem. We see this as a ,uh, more or less a civil rights problem. People with rare diseases are a minority. And when you hear politicians or government leaders talking about diseases, they're always talking about major health threats. Now does that mean that rare diseases are minor? We certainly hope not. We're trying to get people to understand that a disease is major if someone in your family has it, and therefore you cannot say all the people with rare diseases are not worth investing in. If you look at some of the real major advances in recent medical history, many of them are orphan drugs for very rare diseases, and they've opened doors to treating common diseases. For example, under the Orphan Drug Act, they've learned how to make enzyme replacement therapies for diseases that are caused by lack of enzymes, and that has opened the door to dozens of diseases that can now be helped with enzyme replacement therapy.

Leonard: And even the earliest drugs used to treat AIDS had been developed for other illnesses, so they were around, although I think they were about to be discontinued.

Abbey: Well I think AZT was the first one and it was up on a shelf: they had looked at it for cancer and it didn't work so they put it up on a shelf and then when AIDS came along, they were asked to just screen the chemicals that were up there on the shelf and they found that AZT worked. Now when AIDS and HIV became prevalent it no longer was an orphan disease, but the study of AIDS and HIV has taught science a lot about the immune system. They've- first of all, they threw money at that problem and they made tremendous advances with the cocktails of drugs that people are taking and people who expected to be dead in two or three years are now living for decades so it is important to look at diseases that are rare and apply the knowledge from them to the common diseases.

Leonard; Amy Farber, have you been lobbying legislators for any changes in the laws?

Amy: Great question. First, again, I just want to respond to some of the points that Ms. Meyers made, just to reiterate that there is not a zero-sum game going on here with rare diseases and common serious diseases like cancer, heart disease, diabetes, and obesity- in fact, LAM is again seen as a dumb cancer, a really good way of eventually cracking many cancers. Also the idea that there are likely existing compounds on the shelves of drug companies in their chemical libraries that can, with a little bit of amped-up effort, can be applied and tested in the models and the cell lines and the tissues that we have for diseases like LAM but all the other rare diseases. So there are ways and I intend to do that kind of lobbying. Before I just elaborate on that I wanted to finally say that relying on patients with rare diseases, especially in the case of LAM, is incredibly problematic. Many patients are diagnosed when it's often too late for them to be physically active. Women- so many women- are just struggling to stay alive, many have teeny small children, they're planning for the futures of young children they're likely going to leave behind. They're trying to hold themselves together. Too many husbands leave their wives when they are diagnosed with LAM. It's tragic, and it's unrealistic to expect that all of these women are going to be the primary sources of mobilizing for this disease.

Leonard: How do insurance companies react when they're asked to pay medical expenses for a rare disease like LAM?

Amy: I think that depends. I mean, from my knowledge of insurance law, that depends on the type of coverage that you had- the preexisting kind of coverage. If you're, you know, there is the HIPAA, which is the federal act which allows you to transfer- you can't be dropped from an insurance company, but in many cases they can raise premiums prohibitively high. If you're part of a big group plan, you're probably more insulated. Getting disability insurance once you have a diagnosis with LAM, to my knowledge, is pretty much impossible. Women are in desperate situations, so you have women in the primes of their lives, being the primary income earners, and primary caregivers turned into people who are disabled and who are dependent in many cases on the state and other family members. I just wanted to mention that since last May, my family and friends' letter writing campaign has raised over 100 thousand dollars, and that's exceptional, so it's totally not representative, but it is amazing and it shows that with an amped-up effort--and again, I am not representative of the other people with this disease- I'm still healthier and I'm way over-educated. And another thing- helping to keep positive pressure on the FAA and the Department of Transportation so that they change their rules for bringing supplemental oxygen on airplanes so it's not so expensive. I've gotten the LAM language into the House Appropriations- Health & Human Services appropriations bill with the help of senate staff. Again, lobbying right now, lobbying the congress for increased NIH funding, the moment is now. Senator Specter is on board, but he's a shoo-in, we need to get everyone else on board, and it will benefit all rare diseases. I've given testimony on LAM at public hearings. My husband and I again are planning this- it's a Harvard, MIT and Tufts research unit, it'll be a working group and again we'll be aimed at generating collaborative research and therapeutic strategies. It's not enough- it's- we need-- the LAM foundation is ready and willing to go, we need stepped up effort from people who don't have LAM, or currently may not know someone with LAM, but whose wives, sisters, children, aunts, best friends may have LAM tomorrow.

Leonard: Abbey Meyers, any final words?

Abbey: Well I think that there's a lot of things that people can do to help in this effort and to understand that people with rare diseases need the type of health care that other people get. There are problems with the managed care insurance, for example, they have formularies, so they say we'll pay for these drugs but we won't pay for these other drugs. And a lot of orphan drugs that are rarely used are not on formularies which means that automatically people with rare diseases have to file appeals and fight with their insurance companies to overturn negative decisions, so a lot needs to be done in terms of awareness and in terms of fundraising for research and we're very happy to help people who need help.

Leonard: My hopes to all of you that cures will be found very soon and my great thanks to you Amy Farber and Abbey Meyers for participating in today's Underreported segment.

Abbey: Thank you

Amy: Thank you