When science isn't moving fast enough to cure your child

Everything seemed fine when the twins were born. Addison and Cassidy Hempel's earliest years were normal — their first words and first steps happened within the normal window for infants. But then both of them experienced troubling symptoms, precipitating multiple medical tests, and then finally, a devastating dual diagnosis: a rare, debilitating and fatal neurodegenerative disease known as Niemann-Pick disease type C.

The Hempel family hoped to put their faith in the scientists who were studying Niemann-Pick disease type C. Yet as they discovered, scientific research moves at a Byzantine pace, and insidious illnesses such as theirs often progress faster than the development of treatments. But as Pulitzer-winning Wall Street Journal writer Amy Dockser Marcus writes in her new book, "We the Scientists: How a Daring Team of Parents and Doctors Forged a New Path for Medicine," that's where the determined work of a motivated population of self-identified "citizen scientists" comes in.

Dockser Marcus follows families like the Hempels, who — along with the doctors, researchers and government entities they encounter along the way — are in a race not just to help their children, but to change our baffling, exasperating, isolating medical system. Her book tells a story of community and collaboration, and what is possible when scientists don't just look at endpoints on graphs but listen to the real-world experiences of the people living with the challenges of their illnesses and, often, their treatments as well.

Salon talked to Dockser Marcus recently about what the bold approach to treating a rare disease can teach us about improving American healthcare — and managing a pandemic.

This conversation has been edited and condensed for clarity.

The stakes are high when you're talking about children who have such a short life expectancy, and parents are such a unique community of motivated advocates. When you started doing the research for this book, did you realize how important that the parent side of it was going to be? 

This group of parents was suggested to me by a policymaker who had met some of them and had been very impressed by their passion, commitment and thoughtfulness about pursuing science. As I immersed myself in this group, some of the ethical tensions that arose also stemmed from the fact that when you are a parent, you are making decisions for a person who is not legally allowed to make them for themselves. It adds an additional dimension when you're enrolling your child on a trial, seeking help for your child.

The ethics around children are uniquely complex. You talk about the moral obligation to the broader community. The researchers and the doctors are also balancing, "How do I treat this one person who is sick, where the clock may be running out, against the needs of people who haven't yet even been born?" How do we do this? What did you find in these ethical dilemmas and conversations?

When you're talking about these issues in a larger disease community, you may not know the faces of the people that are also going through this experience with you. In rare disease communities, the parents and families become intense friends, and like family to one another. 

In meeting the parents and sharing some of their personal journeys with them, I was struck by how passionate they were about trying to help their children but always aware of other parents and other children. The choices they were making were not going to be made in a vacuum. The things that they were choosing to do for their children would have consequences for other children. They tried to balance that. There was a particular scene in the book where one of the parents expresses this directly, when he's trying to make decisions about whether to wait to enroll his child in a clinical trial or to seek compassionate use. One of the things that he mentions is his desire to help his child but also create important scientific knowledge that could be potentially generalizable. He was advocating for a way to collect information from compassionate use experiments that could be useful in some way. That was the way that he tried to reconcile the tension that he saw between his duty to help his own child and his effort to collect information about whatever happened so that it would also be beneficial to other children, including future children.

When you think about a suffering person, and then when that person is a child, there's intense emotion around it. Compassionate access use, or experimental drugs are not a guarantee of efficacy. As an FDA panel member says at one point, "You hear very touching comments… but it's not science." Help me understand the limitations even of compassionate use and clinical trials.

Compassionate use and formal clinical trials have limitations people should be aware of when they're going into it. In the book, the doctors and the scientists who are participating with the families in trying to advance this particular drug forward, are very, very articulate when they say, "You know, a drug can make things worse." It's not only that it may not work, but a drug could have negative consequences as well. 

You saw that where the parents go to an FDA Advisory Committee meeting to share some of their own experiences with this experimental drug that they're hoping the committee will recommend to the FDA to approve. I think that it's also not completely fair to say, emotions aren't science. The arguments that the parents make are more nuanced than that. What they're saying is, we're not trying to tell you that emotions are science. We're trying to tell you that we actually are collecting observations and data about our children. We want recognition that detailed lived experience can be considered another form of scientific knowledge. 

The infrastructure of science hasn't quite set up a way yet to formalize this in the way that you have clinical trials. One of the things they're arguing for is, help us create the infrastructure, and a way to collect this knowledge in a format and style that will be useful to you scientists or to you FDA regulators, so that you can you can include it as science. I don't think the parents are arguing that their emotions are science. I think what they're saying is, of course, we feel emotional, because our children's lives are at stake. And we want you to have insight into our daily lives. I found their argument actually quite sophisticated. What they were saying is, we are trying to create a form of knowledge that we consider science. If you have objections to that, or if you want to support that, we'd like to work with you to create a structure to collect that information in ways that you would deem scientific and that we would deem scientific.

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You explain that drug development can take years and years, with a high failure rate. What we see brought to market is the tip of the iceberg, particularly for these rare diseases. We're also working within a capitalist system. Talk to me about the push for treatments and cures for these diseases that maybe only 200 people a year are diagnosed with. What do we do about this in a system where the market is not sympathetic to that?

The parents and families and the scientists and doctors recognize that would be an obstacle for them, and so that is one of the reasons why their collaboration initially found it found itself inside the government. 

That collaboration was able to succeed because some of the partners included government scientists, people who did not have to take into account profits. They were more mission-oriented, as one of the scientists said. In fact, some of their initial meetings took place inside a lab of a scientist at the NIH, who was specifically directed and built his lab around the idea that the kinds of drugs and other technologies that are only available right now to private companies should be available for use by scientists at universities who want to partner with the NIH for families or advocates themselves, who are able to raise money to collaborate with the scientists, but wouldn't have access to this type of specialized equipment.

One of the arguments that I put forward is that the government does have a role to play in helping to advance science, especially for patients who may have diseases that are too small in terms of the number of patients to initially attract drug companies. What we've seen over the years is, once there is a level of de-risking, as one of the scientists called it, that's done either through these partnerships between rare disease groups, families, scientists, and sometimes government entities, that drug companies are willing to come in. But this process obviously needs to be sped up. It needs to be shared with larger numbers of patient groups.

Another elephant in the room is privilege. Who gets to be an advocate? Who has the resources to  really push the needle forward? Not everyone can travel. Not everyone has health insurance. What winds up happening, certainly in the clinical trial community, is we don't have diversity. We have patient populations who are predominantly white, who are predominantly otherwise very healthy, and who have more time, money, connections and caregivers to devote themselves to these efforts. What do we do about that?

You've pointed to something that's an important issue for all of medicine. Clear inequities exist. It's not only that some people have the resources that are required to raise money and advanced research and drug development into diseases that are important to them or to their families. 

There's also social networks, where people are in certain types of professions where they may know people who are doctors, or they may know researchers, and they're able to more readily navigate a system that's extremely confusing for so many people. It gets back to this idea of, how can we meet patients and people where they are? Right now the system is set up that if patients want to enroll into a trial, they need to go to the academic center. They need to get there. Why couldn't trials and even research and drug development also recenter inside the communities where people live, so that people can get more readily and more easily to where they need to go? The system needs to change. 

That's one of the messages of this book, that if you started thinking about ways to make the system more patient-centric you would be able in turn to address some of these serious and real inequities. You would run more trials inside communities, you would make it easier for patients to get there. You wouldn't insist that they have to come only during business hours. You would allow them to do blood draws and all kinds of other things that they need to do to participate in trials in their communities at hours that work for them. There's no one solution to deep systemic problems. But at the heart of it, is to think outside the box, to try to make the system more patient-centric, and to be more accessible for more patients.

It almost feels unfair, when patients are burdened, especially when they're burdened with the harrowing, mind-expanding experience a sick child, to learn this system. What is the way around that? Science is intimidating. You walk in and you feel like you are not a partner in the conversation. You are perhaps not treated with respect or as someone who has something to say, who has valuable knowledge to impart. 

There are different levels of collaboration. I don't think that the book is trying to argue that someone who doesn't feel comfortable with science now suddenly needs to start reading scientific papers. The book is arguing that if you want to, you can do that. You can access and read scientific papers, and start to learn the literature if you want to. But some people don't want to do that, and that's also fine. 

There's no one way to be, I think, a scientist, and there's no one way to participate in this project. There's different ways to do it. For someone who's starting out now, who has an initial diagnosis, there are a lot of online resources available that people could find, and hopefully avail themselves of if they want to get up to speed on certain things. For example, NCATS [National Center for Advancing Translational Sciences] has a whole toolkit for people that want to be involved in patient-driven therapy development. They have videos online, and they have links and resources and documents that other patient advocacy groups have helped them compile. There are patient advocacy groups on virtually all types of diseases and illnesses that can be searched and found more readily now. There are Facebook groups, where patients gather together and seek information from one another. It's all different levels of what people can do and what they want to do, depending on what they feel comfortable with and what interests them. I do think that some of the resources that are described in my book are more widely available now because so many patients and parents have formed groups online, where they meet up with one another and share resources. That's a way to start to try to find a community where you can get questions answered, and then you can make decisions on what else you want to know and how you want to get involved.

In the midst of finding this information and looking for other resources, how do we fight against the tide of disinformation? When you're desperate and looking for answers, there are a lot of people out there who are willing to exploit that, and who are peddling really, really dangerous ideology. 

Often we are recommended as patients to get a second opinion when we're given a diagnosis, or when a doctor recommends a treatment plan for us or for people we love. I think that it's important to get second opinions, and maybe even third and fourth opinions, when you're trying to figure out a pathway forward. There is a lot of information out there. Not all of it can be weighted equally. Each patient or each person should seek out trusted experts. That could be your doctor, that could be a scientist who's a partner with you, that could be your neighbor or friend who has some medical background. That could be your own informed ideas that you arrive at. Different people weigh risks and benefits in different ways. That's their right to do so. Again, I think that there are communities that try to provide trusted information from experts, and then people can weigh what they learn and make choices.

I want to ask about COVID. In this book, you talk about the ways in which the patient community really was making discoveries about the trajectory of the pandemic, really discovering long COVID. When we as patients are participating in the conversation about health care and medicine and about illness, what is possible?

One of the things that COVID highlighted is the fact that patients can and do all the time, collect data about themselves, make observations, share information, and analyze what it means. That can help direct the course of medical inquiry, perhaps in ways that specialists may or may not have thought about, or may just have been so overwhelmed with the acute crisis that they didn't have time to think about things that patients were identifying in their own lives. 

COVID was a novel virus. At the outset, there weren't established experts. The doctors and the scientists, in many ways were in the dark about figuring out things just like patients were. There was this understanding when that was happening, that patients really are experts. They can be partners with doctors and with scientists in trying to ask important questions and collecting information, and prioritizing what should be tested and tried and in writing papers as well. 

With other types of diseases, where there's already established experts, maybe there's more resistance to that idea. One of the things that I was trying to point out is that we should approach all of this with the same fresh eyes that we brought when there was, the initial outbreak of the COVID pandemic. It doesn't matter if the disease is novel, or if it's a disease that's been known for decades, like Niemann-Pick type C disease, which was identified decades ago. Working together as partners, scientific knowledge can be collected more quickly, and insights can advance in a way that wasn't done before. That this was my experience with not only this group of parents and scientists, but also my ongoing coverage of other communities of people who are working together to try to advance knowledge and drug development and diseases. It shows you that true collaboration can help make science richer, and I think can yield the kinds of advances that we all hope to see for ourselves, and for everyone we love.