Episode 2:  Driven by Diagnosis

Episode 2: Driven by Diagnosis

Jack Faris (0:04):
Hello and welcome to our podcast PNRI Science: Rare Disease, Real Progress.
I’m Jack Faris, CEO of Pacific Northwest Research Institute—and also, proud father of my co-host, Anna.

Anna Faris (0:19):
That’s me – Anna Faris—actor, producer, and yes … Jack’s daughter. Which means I’ve had a front-row seat to his science enthusiasm for quite a while.

Jack Faris (0:30):
Some might call it enthusiasm. Others might say I’ve been known to go on a few passionate tangents about genetics.

Anna Faris (0:40):
Well, either way, you’ve definitely made science a big part of our lives—and I love that we get to share these conversations together.

Jack Faris (0:47):
This series was recorded at PNRI’s 2025 Rare Disease Day symposium—an incredible day where advocates, scientists, clinicians, students, and industry leaders all came together with one goal: to accelerate diagnosis, improve treatment, and advance discovery for rare diseases. And we’re sharing some of the most powerful conversations from that day.

Anna Faris (1:14):
In this episode of PNRI Science: Rare Disease, Real Progress, we hear from three powerful voices in the advocacy world—Daniel, Lindsey, and Maddie—who’ve taken personal experience and turned it into serious momentum for change. From rethinking how drug development works to making the healthcare system more humane and inclusive, these are the people who keep showing up, speaking up, and pushing research forward.

Daniel Barvin (1:45):
My name is Daniel Barvin. I am one of the founders of End the Legacy Genetic ALS and FTD. I came to PNRI because I and many others, approximately about 500,000 at least in the U.S., are at risk of causative mutations for ALS and or FTD. And when I found out that I myself carried a genetic variant that caused my aunt, uncle, and father’s early demise, I realized that there was no resources available to someone like myself. And it took me quite a while to come to terms with the understanding that I wasn’t alone, that I could be a voice to help others go through this experience, which is traumatizing, incredibly difficult and isolating, and that we would all get through this if we had each other. And so that’s how End the Legacy was born, along with other patient advocates. And I find myself here looking to engage with people like myself who are not going to sit back and let life be taken from them end.

Daniel Barvin (2:57):
End the Legacy is really an organization that is focused on awareness, education and getting a seat at the table at important conversations like NIH, funding opportunities, grant opportunities, and with researchers and clinicians. We are all in this journey trying to understand how long we have left, when might symptoms occur, and how do we prevent this disease from ever starting. So we want to be informed about our biomarkers, about any potential tipping point into disease. And research doesn’t always give you back the insights that they gain with to wait until a research report is given out or a white paper, some presentation, and that’s not always often enough. So with clinical care, all of that data should be available to us and we can be more in charge of our futures.  Because in the end, what we want is to be in charge of our health.

Daniel Barvin (4:04):
I was working in finance after my MBA when I found out that I carried this mutation and quickly realized that that was not my passion. That my passion was really driving for change in this disease space for my community and for those with symptoms. And I was looking around at how I could do that commercially in the biotech space. Well, one day the founder of my company reached out to me and said, Daniel, I’m licensing Dr. Stanley Appel’s regulatory T-cell therapy for ALS.  Would you like to join me? And helped me commercialize this therapy and it blew my mind. And a day later I was hired and now it’s been four years and we are on the cusp of kicking off a large phase two trial for ALS, and it’s been the most passion fulfilling opportunity I’ve ever could have dreamed of.

Daniel Barvin (5:06):
How do we change the world? We have to collaborate with others because we can’t keep fighting individual battles. BRCA did it. Huntington’s has done it. But how do we grab the world’s attention? Instead of me saying we’re fighting for 500,000 people in the U.S., we’re fighting for 50 million who are at risk of genetic disease. That is a force to reckon with. when we change genetic discrimination laws for one, we help all. I think my biggest goal when I first started this was just to give people awareness and education because when you find yourself after having lost your entire family that this is coming for you, you don’t know what to do, you don’t know where to turn, and you just make mistake after mistake because you are alone. How do you just give people the insight and education for what to do next, options for what to do next? I hope that today we start forming those alliances. End the Legacy is all remote. We’re scattered across the country and we’ve been collaborating with others in the genetic space of neurodegeneration remotely. But I think that there’s something so palpable about being physically together and trading ideas.

Lindsey Topping-Scheutz (7:05):
My name is Lindsay Topping Scheutz and I am a mom to a little boy, Owen Shoots, who’s eight years old and he has two rare genetic abnormalities. The first is called 5p- or Cri du Chat syndrome, which is a rare disease, and he also has a micro duplication on his 17th chromosome on the Q arm. We were lucky enough to receive a prenatal diagnosis for Owen, and I quickly learned that there were so many potholes to put it politely in all of the different systems and the advocacy was going to have to be a big part of our story. I think that our journey was like many of the other rare disease parents, I was very, very excited to become a mom. We did an amniocentesis and at 27 weeks we’re given Owen’s diagnosis.  So Owen was born with an emergency C-section six weeks early, and he spent the first 103 days of his life at Mary Bridge, Tacoma general NICU. And we watched him fight for his life and we weren’t sure on certain days if we even wanted to ask when we may go home because we were afraid they may say we may not. And so I think that there’s so much trauma and there are also so many amazing things that can make that journey lighter. For us, we found palliative care early on and that really helped us to understand that it wasn’t about giving up on our child, it was about believing in our family and that there were people that could help carry the load. There were people that could get to know us and our values and hopes and wishes for Owen and for our family. And they really gave us permission to live our life again and to celebrate things like a baby shower, even if this child was going to be born with a disease that nobody could pronounce. And so we took him home and we fought like crazy to keep him healthy and safe and try to laugh along the way a smidge. And we have had quite the journey advocating, trying to navigate the state system here in Washington that is very challenging and there’s a lot of roadblocks preventing families from getting services, the medical hospital systems, trying to fight to keep programs like palliative and complex care that are so often dependent on donations, on philanthropy.

Lindsey Topping-Scheutz (9:25):
Today I came to listen and network. Really just trying to share our story so that other parents feel like they can also share and lift their voices. They can ask for what they want and need. There’s help available. And as we have heard at events like today, so often our diseases are rare, but our community is huge. And also because it’s really important to me that these researchers and kind of people that are on the business side of things understand that the burden of research is often put on the families. And I think it’s important that if that is the case, that we have a bigger stake in this, that we get to have our voices be heard so that we can save time, energy, streamline processes, and hopefully motivate a few scientists to keep fighting for us.

Lindsey Topping-Scheutz (10:18):
I do a lot of work with the Northwest Rare Disease Coalition here locally, which is doing some really incredible legislative work here in Washington. And I also work with a group called the Courageous Parents Network, which is a nonprofit organization that has many, many wonderful resources for people that are impacted by rare disease. The Northwest Rare Disease Coalition is a nonprofit here in Washington state. It was started by Carolina Sommer who was speaking earlier today, and a couple of other wonderful folks, and we really have tried to make it our mission, especially as of recently, to focus our work on developing and pushing for legislation that will help the rare disease community specifically to shorten the time of that diagnostic odyssey. The Diagnostic Odyssey is something that we hear a lot in the rare disease community. It can take years, decades, even for many people with a rare disease to get an accurate diagnosis. There are so many stories of families who have had their child or they themselves have had horrific surgeries or medications and treatments done that weren’t necessary, but we didn’t have the right diagnosis. So we are trying to work to get accurate and effective testing done as soon as possible so that we can lessen that burden on the family and on the system. We are fighting to get whole genome sequencing covered by Medicaid for babies that are in NICU PICU settings under 12 months of age, and we are also always working to try to improve the newborn screening process to make sure that Washington is really quickly preparing those new diseases as they’re added to, again, just shorten that time of diagnosis.  We are a gritty community of people that have to sometimes be scrappy with our advocacy and funding, and it is fair to be exhausted and ticked off. Many of us families have never had funding to do this work.

Lindsey Topping-Scheutz (12:20):
We appreciate all of the researchers being willing to continue fighting alongside us. We need you, we need you. And there’s so much. I often think about the fact that when Owen first got diagnosed, I just felt like it was completely hopeless that there could be a treatment, and now I realize that quite likely what is stopping Owen from having a treatment is funding not science, and I appreciate the work that the researchers are doing and we’re going to keep being a voice to fight so that you can all keep helping us too.

Maddie Gillentine (12:56):
I am Maddie Gillentine and I am the research director at the HNRNP Family Foundation. We are an organization that aims to support research and the community of people affected by HNRNP-related neurodevelopmental disorders. The HNRNPs are heterogeneous nuclear ribo nuclear proteins, which is a mouthful. We support research through grants. We also have family meetings every year where we do collections of bio samples and natural history studies. Individually, each HNRNP related neurodevelopmental disorder is ultra rare, so less than one in 50,000, but when we combine them, they’re just rare, which is one in 20,000. We’re the HNRNP family of genes. And so we started this organization so we could bring people together and really study these disorders in a meaningful way. And so most of these kids have neurodevelopmental disorders, so intellectual disability, developmental delay. It’s a lot of epilepsy. Some of them have more physical anomalies like scoliosis and other bone anomalies, and we are really trying to find what is shared across these different disorders and what can we target, I guess most efficiently. The HNRNPs are a gene family that we know work together in cells and they can also work for each other, and so we know there’s some  where if you knock it down, another one’s going to come up and try to compensate for that. Most disorders have been identified in the clinic. They’re like, oh, I saw five kids that have the same thing going on. A couple of the disorders already existed and we had a lot of research, but they didn’t necessarily know that they should interact with each other, and it’s definitely something that’s kind of gaining steam. There’s other organizations now that focus on multiple disorders because all these genes will work together or have very similar functions, so why not be one group? We are really excited that we have such a good community and we have had both family buy-in of this group of genes and researcher buy-in and clinicians, and we’re excited to be able to provide researchers with tools like cells and samples of other kinds.

Maddie Gillentine (15:18):
As a PhD I do feel a little bit like the bridge between some of the patient advocacy people and some of the researchers and clinicians. I just love hearing about all the different things going on locally. It’s really exciting that we have such a great local rare disease community. Rare diseases in general, individually are rare but are common. If you put them all together, it’s about one in 10 individuals. I think it’s really important for the general public to realize that this is something that you’re very well likely to interact with somebody who is affected by a disease or has a child with one of these diseases. For the scientific community. Right now, with the NIH kind of going crazy, there’s a lot of concern about the future, and so anything to help bring awareness and help with funding is really, really helpful.

Anna Faris (16:05):
Thanks so much for joining my dad and me for this episode of PNRI Science: Rare Disease, Real Progress. These conversations really stuck with us, and we hope they sparked something for you too. If you’d like to learn more about PNRI or stay connected to the work, just head to pnri.org/connect. You can sign up for updates, join an event, or even come tour the lab.

Jack Faris (16:32):
Whether you’re in the lab, in the clinic, or at home navigating life with a loved one who has a rare disease—this work touches all of us. And it moves forward because of people like you.

Anna Faris (16:45):
Because in rare disease, a diagnosis isn’t the end of the story—it’s the start of something courageous, collaborative, and hopeful.

Jack Faris (16:53):
Thanks for listening. We’re so glad you’re with us.

Jack Faris (17:04):
A very warm and deeply appreciative thanks to all of our sponsors and supporters who made Rare Disease Day possible. It was a smashing success, and if we make a breakthrough, it will benefit generations and generations to come. So with that, let me say particular thanks to Platinum sponsor, Trysk Print Solutions and Acadia Pharmaceuticals. Thank you also to our gold sponsors, Ultragenyx, K&L Gates, and Perkins Coie. We’re deeply grateful to our silver sponsors, Novo Nordisk, Sanofi Ipsen Farming, Bruker Spatial Biology, SpringWorks Therapeutics, El Gaucho, and Knobbe Martens. And thank you to our bronze sponsors, Biogen, Nabsys, Dorsey and Whitney, Medlife Discoveries, and the Tall Chef. And thank you to our media sponsors, Science in Seattle and Audiotocracy. Because of this generous support, we were able to host a fantastic rare disease day scientific symposium for over 200 people. And now that information is extended to a larger audience via these podcasts, behind every sponsorship there is a person or a team of people who support the idea and go to bat for it and make it happen. So thank you to all of you.