Beyond the Diagnosis: How Art is Changing the Face of Rare Disease

Patricia Welton:
Beyond the diagnosis is a traveling art exhibit. So we have about a little over a hundred portraits. They go to all different places all over the country and now the world. And so it depends. It's so valuable in so many venues. We go to conferences, we want the people that work in this space to be able to see, this is who you work for, this is why you're doing what you're doing, is for these children.

Mary Parker:
Welcome to Sounds of Science. In today's episode, we're joined by Patricia Welton, founder and CEO of Beyond the Diagnosis, a global art and advocacy initiative that's changing how we see rare diseases, literally. Through powerful portraiture and storytelling, Patricia and her team are helping the world look beyond medical labels to see the people, the families, and the futures behind each diagnosis. Stay with us as we dive into the intersection of art, empathy, and science, and discover how one woman's vision is reshaping awareness, education, and connection across the rare disease community. Patricia, thank you for joining us.

Patricia:
Thank you so much, Mary.

Mary:
We're really glad to have you. To start, could you share a bit about your background and what led you to become such a passionate voice for the rare disease community?

Patricia:
Sure. I think that like most people in this space, I did it because I have two kids with a rarely diagnosed disease. My children, my daughters have Ehlers-Danlos Syndrome, and I started because I was frustrated that it took 18 years to get my daughter correctly diagnosed. And I thought, wow, we need a way to connect with especially medical school students where they see us as human beings because I think there's a lot to learn when you're in medical school and some of these things get overlooked. I want to leave a memorable imprint on their brains. I've seen that. I know that I saw that child. It is not just a name you can barely pronounce. It's actually a human being.

Mary:
That's a really good point. It's always important to teach empathy early. So, what inspired you to create beyond the diagnosis and how did your own experiences shape its mission?

Patricia:
It was actually an accident, like most things. One of my board members had a daughter who was an artist, and she came to me and she said was in high school. She said, we have to do a portrait for our class, and I'd like to do somebody with a rare disease. Do you think you could find somebody? And I said, wait a minute, that's a good idea. So we put out a call for art, and our first venue was Brown Medical School. I am based here in Rhode Island, and it seemed a great place to start. It was a wonderful, wonderful evening, and we had, I think our first exhibit, we had 17 portraits, and then we were like, well, this is bigger. This is good. It was really well received. So the next venue we did was Harvard.

Patricia:
And I like to say Harvard put out a press release. So when Harvard talks, usually people listen. And we were contacted by CBS Sunday morning, which was amazing. I thought it was actually a prank, but it wasn't. They did. Boston Globe did a print story and online today.com, stat news. It was great. So from there, I mean most of the kids that when we started the exhibit, most of the kids in the exhibit, if not all of them, were my friends, all my friend's kids. I was like, Hey, do you want to have your kid in the exhibit? That's how it started. Now, of course, we have a more sophisticated, you have to go online, you have to submit an application and all the good stuff that we didn't do the first time, which makes it easier on us to keep track of everything. And so we started with 17 portraits, and right now we're a little over a hundred with several that are now still outstanding, still being painted.

Mary:
So how did your role as a parent navigating the rare disease world influence the way you envisioned this initiative?

Patricia:
Well, because my kids have an invisible illness, and I mean, if you looked at my younger daughter, my other daughter has some visible signs of deformed hands, but my older daughter looks like she walked off the cover of a magazine. And so as a result, and being a woman, we weren't listened to with her. And also my younger daughter had a lot of health issues growing up, so the doctors were kind of used to us. But when my oldest daughter started showing signs of Ehlers-Danlos Syndrome, it was a different, and I just felt like we were invisible. And I think a lot of people in the rare disease space and people living with any disease, whether a kid is medically complex, it's very isolating. You lose out on, a lot of My kids missed out on proms and all of those things because they were sick at the time and they're bedridden or whatever was going on. And so you miss out on a lot of things. You cancel a lot of your plans at the last minute because your kid is sick or you're at physical therapy or you're just tired from the daily care routines.

Mary:
I think it's important to emphasize the range of issues that can come with something like Ehlers-Danlos Syndrome or almost any rare disease that has sort of a spectrum of symptoms. For example, one of my very favorite drag queens, Evie Oley has Ehlers-Danlos and with it, the hypermobility that comes with her version of it, and that makes her lip syncs incredibly athletic. She's spinning, she's doing all these flips and everything, but at the other end, she can sprain her ankle just by standing up. So it's like, and people have a hard time, that's syndrome, have a hard time wrapping their brain around how you can do all these amazing things, but also that is the very thing that's making you vulnerable to those sort sorts of issues.

Patricia:
Or one day you need a wheelchair and the next day you don't. I've often taken my daughter out, she's in, my daughter has POTS that's Postal Orthostatic Tachycardia Syndrome that often comes with losan low syndrome.

Patricia:
And so if she has to stand in one place, it is impossible. So if we go shopping for, I remember going shopping when she was going up to college, we went shopping to get some things and we were at Target and she was in a wheelchair, and then she stood up and people were staring at her, you could walk, and I said, oh my God, it's a miracle. So then I put a sign, I know we have to laugh at everything or we'll be fine, but I ended up putting a sign on her wheelchairs on either side that say, my legs work, my autonomic nervous system does not, so that people understand like, look, I can walk, but I might pass out right in front of you. And I think that people, when they hear, from my experience, I started in the rare disease space as a different kind of advocate. And so when I started in the rare disease space, I noticed when I talked about rare diseases, people's eyes glazed over because they think it doesn't affect them.

Patricia:
And they don't understand, and they oftentimes don't want to hear sad or upsetting stories that are, I want to show them that you might see a kid with a disease, but this child is loving and funny and what their interests are and that they're really as valuable to any family as any other child. And I think that's what the exhibit, we want you to see their joy, and there's nothing better than joy.

Mary:
Well, speaking of your exhibits, can you tell us, give us an elevator pitch. What is beyond the diagnosis and how does it uniquely unite art and science to raise awareness.

Patricia:
Beyond the diagnosis is a traveling art exhibit. So we have about a little over a hundred portraits. They go to all different places all over the country and now the world. And so it depends. It's so valuable in so many venues. We go to conferences, we want the people that work in this space to be able to see, this is who you work for, this is why you're doing what you're doing, is for these children. And we, we've been to medical schools where they actually started curriculum surrounding the exhibit, which was amazing. And we go to places like the NIH and the FDA where of course they need to see us, which is perfect. I mean...

Patricia:
It fits everywhere. We're actually right now, of all places we're in a courthouse, which I never thought would happen, but they reached out to me because one of the kids', grandmother is a judge in that courthouse and they have an art program, so they asked if we could have the exhibit there. We have reproductions there, and it's really, really been well received. So we want to reach, we don't just want to reach medical schools anymore. The importance of reaching, I think community, kids, all of these kids need to see all of the, anybody needs to see that kids living with these medically complex diseases need help. And I think this is a beautiful way to do it.

Mary:
Oh, I agree. And if anybody out there is interested in having these exhibits come, you can find information on your website, I'm sure. But it's also important to note that moving these portraits around the world is only a little less taxing than it would be to move these patients around the world to be in person. It takes a lot. You have to be very careful with the art and proper insurance and everything. So the logistics of that, I'm sure are something else.

Patricia:
So a lot of our venues, we keep coming back. We try to make sure that the same portrait doesn't go to the same venue twice. That is a trick. So there's a lot of different factors that go into it. We want to make everybody that takes it. We get a lot of children's hospitals that take the exhibit. We want to make sure that it's tailored to their venue, what they're trying to, their event. We're at Children's Hospital right now where two of the kids in the exhibit actually are patients there. So of course those are the portraits that they're going to go. We want them to have portraits of their kids in the exhibit.

Mary:
Makes perfect sense. So how did the idea of painting portraits of children with rare diseases come to life?

Patricia:
So after I was approached by that young girl, I put out, I went to, there's an art center in here in Rhode Island, and I went there and I was telling them about the idea, and they put out a call for art, and a bunch of people answered, like I said, some of these other artists then reached out to other artists, and it was on the news, and then it was on CBS Sunday morning, it was 7 million viewers. It got a little easier to find artists, but I will reach out to an artist. I mean, I just am so grateful to the art community. I can't believe what they've done for us. I don't think they realize. I keep trying to tell them I'm the one that gets all the feedback, but it's not me. I'm just pushing the paper around. It's not me. The magic really is in the artist and the families. And oftentimes these artists will connect with the families on Facebook or some social media and follow them. They become family.

Mary:
How do you think they connect emotionally with the children and the families that they paint?

Patricia:
Oh, really, very, very emotionally. I mean, we have one artist that every night, and he's done 16 portraits in his prayers. He prays for every kid he's painted. He knows them all. He knows what they have. So let me explain the process. So we get an application in, and then we try to match that child with the artist. We only do one portrait per disease, and so we'll match that patient with an artist. And on the submission form, we asked for a bio that the parents can write about them. And we asked for five reference photos because almost all except for two, all of our portraits that have been done from references. So oftentimes they will find these parents on because we also ask, do you have a Facebook page for your child, an Instagram page, any kind of social media website? They'll stalk them. They want to know everything about the kid. It's really, it's beautiful. And occasionally we'll do an event where the art, we did Rochester Art Museum in partnership with the Mayo Clinic, and we unveiled a portrait there, and the family was there and the artist was there. And to this day, they're very close friends.

Mary:
Well, it goes back to the fundamentals of portraiture, going back centuries where the artists would get to know the subject of the portrait, put their favorite things in the background, put little metaphors, paint little objects that they think relate to the person's personality or status or whatever. I mean, it's a long tradition of portraiture for sure.

Patricia:
And I think you can see, when you look at our portraits, I think you could see, I mean, I think that's what makes it so magical. I think if I commissioned them, it wouldn't be the same as they want to do this. And you can see that they put their heart into these portraits, and that's where we have such a spectacular exhibit.

Mary:
Well, recently your exhibit has made its way to Paris, which is very exciting. So what are some of the logistics involved in shipping an exhibit like this overseas?

Patricia:
It was tough. If we do a big exhibit and we're going somewhere, once, somewhere, they took 80 portraits, which is huge. That's the most we've ever done. We use crates, but we're packaging them up. We're taking them to, we usually take 'em to a shipping company, but you worry every minute. I mean, these are my kids. When we talk about these portraits, I don't say like, oh, that's Ford. That's Ford's portrait. We say, that's Ford. When I talk about it, I talk about 'em like that. Oh, can you grab Ford? Or, that's how we feel about them.

Mary:
And what is the exhibit in Paris? How has it been received?

Patricia:
Very well, very well, very exciting. We expect to get some more international venues in the future because of it's going to be there for a year, which is unusual. We generally only do venues for a month, but they want to keep it for a year.

Mary:
What kind of impact have you seen on medical professionals and students who experience the exhibit?

Patricia:
I mean, I've talked to people who, seasoned doctors who are just blown away and connect in a way that they never connected with their work before. I mean, during COVID, we were at the Broad Institute, great, great Research institute. And so I said to them, just keep it, because they were saying the only people coming into the people working on COVID.

Patricia:
And I said, let them have some joy while there. It's uplifting. I mean, every time we take it down, people are like, no, we don't want, I remember we were at a pharmaceutical company and they had it on their walls, and we went to go take it down. I think they had it for a month. And everybody that walked by was like, please don't take them. Don't take them. They just brings so much joy to the people seeing it. And the people now, we add to the portrait tags. We have a QR code, so it's not just the child's name disease in the artist. If you want to learn more about them, the disease or the child, you can use the QR code. And when we were at Harvard, all these kids are going by doing the QR codes. Yes, that's what we want.

Mary:
It must also be very meaningful for the families. So what kind of feedback have you gotten from the parents to see their child represented? Not so much as a patient, but as a work of art?

Patricia:
The families have been amazing, amazing. They're so supportive of this program, and I'm friends with a lot of them on Facebook. And when I have a new idea, one initiative we started last week, I put it out to them and I say, what do you think of this? These are your kids. I work for you. What do you think of this initiative? And everybody loved it. And we're like, okay, we're going to move forward with this. But I think the most touching thing that's ever happened to me, it's something that was completely unexpected when we started doing this. We knew we were going to have kids that would pass. I mean, a lot of these are fatal diseases. We knew they would pass. So it was going to be protocol that if a child passed, we would retire the portrait and give it to the family. And the very first child that passed the family said, we don't want it. We want 'em to live on in the exhibit. And I was completely blown away because in my mind, I was thinking I would just take it. But since then, we've lost many, unfortunately, many children, and not a single parent has asked for the portrait. Instead, we make a really beautiful reproduction and we send that to them. I even had, and this was a really powerful moment, I had a parent contact me whose child was dying, and they wanted the portrait for their funeral, and they thought of us. It was really impactful for me.

Patricia:
These kids mean so much to us. Everybody at beyond the diagnosis, everybody's done anything with beyond the diagnosis. When I call an artist to tell 'em that a child has been lost, they're devastated.

Mary:
Actually. I find that very unsurprising that they would want the portrait to continue on to be part of the collection. I have here in my notes, calling it an archive of empathy. And I think that is exactly what it is. And having your child be part of that would be more meaningful than having the original portrait hanging in just your house because you have all the empathy in the world. You don't need it.

Patricia:
The child is living on,

Mary:
Yeah, you're sending it out into the world to be part of that larger conversation.

Patricia:
Absolutely.

Mary:
So how do you choose which stories to tell which children to portraiture?

Patricia:
It's really very basic, and people don't understand this. If your reference photos won't make a good portrait, if there's a lot of stuff going on in the portrait, if they're not cleared, they don't have to be professionally done at all. An iPhone is fine, but if the child isn't looking, they don't have to be looking. Right. And actually, I prefer one. They're not looking right at the camera. But if there's a lot of shadowing, it's been a while, and I am getting used to, I know it's going to make a good portrait. And there was one lady that sent me portraits. There were pictures that she said it was really hard to get her picture, and there was one in it that she, I thought, would make an amazing portrait. And I've learned it's been 10 years, I know what will make a good portrait. And she was so surprised, really. And I said, yeah, I love that picture. But basically the first criteria is, have we done the disease before? The second is it's all about the reference photos.

Mary:
So the rare disease community is often underserved or misunderstood. And we touched on this a little, but what are some of the biggest challenges these families face that the public or the medical community might not fully appreciate?

Patricia:
Well, I don't think they appreciate the financial stressors that come with having medically complex kids were rare kids. The misunderstandings. And like I said before, very isolating. I mean, I went from being really outgoing and having played tennis. I did all this stuff and then my kids got sick and I became closed off from friends. And there's only so much, there are a few friends and family that will stick with you no matter what, and no matter how long, but they start to drop off and you find your friends in the community that you're in. So my friends now are my E Ds, other EDS moms or people in the rare disease community that I've come to know over the years. And that's where I feel the most understood and the most loved and the most supported. But it shouldn't have to be like that. It shouldn't have to be that. I mean, I can't tell you how many people, I say, my family doesn't even believe me with EDS, or My family doesn't understand my family. Why don't you just get up and you were fine yesterday? And so I think that's a huge, huge problem. And while we wait for treatments, we need to address understanding. We need to address compassion. We need to address the things that are affecting us every single day.

Patricia:
And I think that part of it has always been lost. When I first came into the space, I thought, wow, there's a lot of work being done on legislation. And I actually did a lot of that myself. But there's not a lot of work addressing the other issues that are really day to day for most of us.

Mary:
Yeah, absolutely. So you've now worked with hundreds of families. Is there a particular moment that stands out to you where you saw a real-world impact of your work on someone's life?

Patricia:
I think that the event at the NIH that we did an unveiling of one of their children to see, and actually just we're doing one in the future. And the doctors that treat these kids are now seeing them in a whole different light and the impact their expressions. It's amazing. So yes, absolutely. I've seen that over and over again with doctors who are at unveilings of the kids that they work with. And they're changed. I mean, you cannot see this exhibit and not be changed.

Mary:
Do you have any advice for people who are newly diagnosed or whose family members are newly diagnosed with a rare disease?

Patricia:
I do. Don't give up. And you can do a lot more than you think. When I first started, when my kids first started getting sick and I thought, I'm not a doctor, what can I do? Well, I can do a lot. And actually now I'm published in the American Journal of Medical Genetics, and I'm a co-first author. So I mean, if you had told me that I get a degree in biology, so if you had told me that someday I'd be a co-first author on a medical article, I would've laughed at you. And I've learned over the years that it's really not about your education, it's about your perseverance. It's about your love for your kids. I mean, there isn't anything I wouldn't do for my kids. Certainly spending hours and hours and hours researching Danlos syndrome and has been, it's benefited my kids.

Mary:
So looking ahead, what's next for beyond the diagnosis?

Patricia:
Well, we just created a new initiative, and we're calling it Beyond the Lesson.

Patricia:
And that kind of started because of what we did at the courthouse and the response from the people that see at the courthouse. And one of the parents told me when they were at the courthouse and they were looking at the portraits that their son was saying, what does that one have? What does that one have? This kid is in second grade. What's that? What does this mean? And I was like, wow, we should be in schools. So now of course, we can't put these amazing portraits in schools where there are little hands with M and MSS chocolate all over their hands or whatever. So we made reproductions and they're lightweight. They're on foam core, and we are calling it Beyond the lesson. And we've already have several schools lined up. So we'll go to K through 12 and they'll take 20 portraits and do some kind of event surrounding it. We want them to learn compassion. We want them to be curious. We don, we want them to see these kids as approachable, which is, I think the art exhibit does that and that they're beautiful to say, we want to see that every child is a masterpiece. And I think that this is going to be a very, very successful program. We're very excited.

Mary:
That's fantastic. And that's a good lesson, not just for teaching them empathy towards other children, but also teaching them grace towards themselves. Seeing all these different kinds of kids out in the world. You don't need to be exactly the same as your classmates. Exactly. Yep.

Patricia:
I mean, it benefits everybody, I think, and we're very, very excited to

Mary:
Start. And finally, for those listening who are moved by your mission, how can they get involved, whether they're artists, scientists, educators, or advocates? How can they support your work?

Patricia:
Well, we are going to be looking for, I have state-based groups on Facebook, so I think we have a total of three or 4,000 families in these groups. We're looking for people that want to take the exhibit to their state as beyond the lesson program for schools. So right now, that's what we're looking for. And if you know an artist or you have a family that's interested, again, it's all about the photos, nothing else.

Mary:
And what's your website that they should go check out?

Patricia:
It's beyond the diagnosis.org, and they can email me at [email protected].

Mary:
Well, thank you, Patricia, for being on Sounds of Science and for sharing your powerful story and the incredible work of Beyond the Diagnosis to our listeners. To our listeners, if you're moved by what you've heard today, we encourage you to explore the exhibit, support the mission, and help amplify the voices of the rare disease community. And of course, check out beyond the diagnosis.org.

Mary:
Patricia Welton is a founder and CEO of Beyond the Diagnosis. Stay tuned for the next episode of Sounds of Science. Until then, you can subscribe to Sounds of Science on Apple Podcasts, Spotify, Stitcher, or wherever you get your podcasts. Thanks for listening.