Spotlighting Rare Disease Research

PCORI: We could devote hours to telling your family’s story. Could you give our readers a primer? 

Scott Berns: Sam was our only child and he was ultimately diagnosed just before his second birthday with a very rare genetic condition called Hutchinson-Gilford Progeria Syndrome, or Progeria. My wife, Leslie, and I are both physicians; she’s the physician-scientist and I’m more the clinician with a public health bent. We were faced with a situation—roughly one child born each year in the US has Progeria—where we were told our son had a certain outcome and there was nothing anyone could do about it. We couldn’t accept that.

We started The Progeria Research Foundation to find the cause, treatment, and cure. My wife is the volunteer medical director and I’m the volunteer Board chair. Over the years, we’ve made tremendous progress. Mainly thanks to my wife and her extended research team, including her colleagues at the National Institutes of Health, we discovered the gene responsible for Progeria in 2003. Since then, we’ve had the first successful treatment trial, and we have the potential for a cure in our sights, maybe even in our own lifetimes.

Sam passed away in January of 2014 at the age of 17. The way we honor Sam is we keep doing the work. I know there were folks who wondered what might happen to The Progeria Research Foundation after Sam’s passing, and the answer is we’re more committed now than ever.

You joined PCORI’s Advisory Panel on Rare Disease last fall. How will this complement the other work you do?

What draws me to PCORI, professionally and personally, is this parent-provider-patient connection. People talk about being patient centered, but PCORI walks the talk. It also dovetails with my work at the National Institute for Children's Health Quality (NICHQ). We are a nonprofit striving for deep, sustainable improvements in complex issues facing children’s health, particularly in underserved and under-resourced communities. Our partners and stakeholders—including public health professionals, nurses, providers, community-based organizations, and the families this work most affects—partner with us to come up with data-driven, sustainable solutions that achieve better outcomes for children and their families. In particular, our work to improve outcomes for children born with rare diseases, such as sickle cell disease and rare forms of childhood epilepsy, directly aligns with my work with PCORI and my personal experiences.

So, when you look at my work at NICHQ, my work with The Progeria Research Foundation, and then PCORI, it all comes together in a way that is very meaningful and purposeful for me, both in a professional sense and in a deeply personal one.

Despite your family’s education and background, what lessons from your journey are common among families affected by a rare disease?

It was quite an uphill battle. In the very beginning, kids with Progeria start out looking normal. The first thing that happens is they fail to thrive, or don’t grow. When we, as parents, went to doctors and said something was wrong, we got a whole range of answers. We were told we were over-worrying. We were told, ”Oh, you’re both doctors, you just know too much.“ In the end, it turned out that Sam had the rarest of rare diagnoses. From my perspective, if a parent tells you something is wrong, they’re usually right. We need to listen to parents and we need to listen to families.

Once you got Sam’s diagnosis, how did you proceed?

My wife was just starting her medical residency, which she immediately quit to go back into science to study Progeria. I had some experience with boards and board development, so I was looking at how we could build the foundation, while she was reading the literature and tackling the science. That’s rung true since the beginning.

Since then, we’ve connected with many family foundations to learn from them but also to help. While I respect individuals and families who choose to tackle their rare disease situations privately, I would bet that most are willing to talk to each other and help as best they can. We certainly feel that way. We were supported from the beginning and reciprocate as best we can when families reach out to us. We don’t have all the answers, but we did find the cause and we have a treatment. We just don’t quite have the cure yet.

What lessons have you learned from running the foundation and from working to promote rare disease research and awareness?

When it’s a condition as rare as Progeria, it can be very difficult to get support from people other than family and friends. I think we raised $75,000 in the first year, which seemed like a ton of money to us at the time. Now we are well over $2 million per year, and we need that to be higher to fund the research we want to fund in our quest for the cure.

Part of the responsibility I feel, and part of the reason I’m excited to be on the Advisory Panel for Rare Disease, is that even though Progeria is one of the many, many rare diseases, we have to remind people that when you combine all rare diseases, you’re talking about one in 10 people being affected in some way. And you can find commonalities and common lessons among them.

Each rare disease is like a grain of sand, but when you pull all the grains together, you have a beach. Kids with Progeria pass away from heart disease, which is the No. 1 killer of all Americans. So, yes, Progeria is extremely rare; however, in studying Progeria, the research could potentially provide us with answers to heart disease that affects us all.

In fact, there is now evidence that the abnormal protein that causes Progeria builds up in the blood vessels of all of us as we get older. Connections like this are not unusual when studying other rare diseases—everything we learn, each piece of sand, needs to come together to help our children and our families, to create that beach.

What do you hope to accomplish as a member of PCORI’s Advisory Panel on Rare Disease?

I think that outreach and raising awareness to other rare disease organizations, including advocacy organizations and family organizations, on a couple of fronts would be important.

First, for dialog and collaboration, because these organizations want to learn from one another so they don’t have to reinvent the wheel with their programs or research approaches. People have great hope and I think we should raise awareness and provide ready access to opportunities through PCORI that other organizations might not even be aware of.

For example, The Progeria Research Foundation has never put in an application for PCORI funding, and it’s most likely because we didn’t even know about PCORI’s rare disease resources and funding opportunities, including an opportunity for support of our international scientific meetings. So, outreach, collaboration, and raising awareness is one bucket.

Second, we can assist rare disease organizations with actually developing comparative effectiveness research proposals, which can seem daunting to some. We can give them a sense of opportunities that PCORI may provide to them, such as the systematic reviews that PCORI is doing, survey existing research and find out what gaps still exist, and then hopefully funding research to address them. I’m excited about the opportunities ahead.

The views expressed here are those of the authors and not necessarily those of PCORI.