I'm Aware That I'm Rare: Patricia Weltin


Patricia Weltin is the founder of The Rare Disease United Foundation,  a non-disease specific, community-based organization, working at a state-level on legislation that has a direct impact on people living with a rare disease, providing support locally, and establishing relationships at local hospitals and medical schools. RDUF has also created groundbreaking programs like their Beyond the Diagnosis Art Exhibit, which travels around the country to medical schools and hospitals. 

Transcript:

I’m Patricia Weltin and I’m from Rhode Island and I started the Rare Disease United Foundation. We first started in Rhode Island and now we work globally.

Both of my daughters have a rare disease, or rarely diagnosed disease as we’re calling it now. About five years ago I started to work by state. I just wanted to do one event on Rare Disease Day, and the idea was to instead of doing a Rare Disease Day event by disease, we would do it by geography and location, and it didn’t matter to me what other people’s disease was. It mattered what the journey was.

So the very first event we had was on Rare Disease Day. We had a blizzard, but we still had 150 people drive out and it was just a great event. There was a lot of stuff for the kids to do. It was a family event and I kind of put it on the back burner after that.  About a month after that happened, we had a call from U.S. Senator Sheldon Whitehouse asking us to work on Federal Legislation for The Expert Act which allows the FDA to bring in rare disease specialists and experts and patient advocates when they’re reviewing treatments.

Then I started thinking, “Wow. This is a really good idea working by state. I should just do this in every state,” so we started working on issues by state. We created legislation for a Rare Disease Advisory Counsel that has been filed in several states. That’s kind of taken on a life of its own and passed… I think three or four of them.  So the idea of working by state became important and it’s a way to get things done.

We focused on state issues and in as many states as we can. We have facebook groups by state because if you’re in this space and you have a kid with a rare disease you know that there’s a lot of isolation, but you don’t have to stick with the people in your disease. We all understand. We all get it because it’s such an unusual journey. People don’t expect to wait years for a diagnosis.  They just don’t expect there’s no treatments when their child gets sick.  So we’re all on the same journey. It’s a shared journey that we have come to find is useful to breakaway from that disease-specific mindset.

Most of our programs at Rare Disease United Foundation are focused on things like reducing diagnosis time. We do work on legislation, but reducing diagnosis time, awareness, and education, are really, really important to us.

The idea to do an art exhibit came from a young girl who approached me and said, “Can I paint somebody with a rare disease for a school project,” and after that, I thought, “Wow. I wonder if we can put out a call for art here in Rhode Island and we can get an exhibit and maybe the exhibit can travel to medical schools?”  So I did put out a call for art and we had about 17 people respond, so the first exhibit had 17 portraits, and it was at Brown University Medical School in Rhode Island, and a few months later we ended up going to Harvard Medical, and by then we had 35 portraits and the exhibit started to kind of just take off.

Right after Harvard, we were approached by CBS Sunday Morning and they wanted to do a piece on the exhibit and when they started working on it, we’d only been to two venues and now two years later, this Rare Disease Day, which is coming up, we will be at seven venues. We’re going to be at the NIH, which we were last year. We’ll be at the Broad Institute, which all of these things, like at the Broad Institute, there will be a symposium surrounding rare diseases. All of these things where the exhibit goes generally, there’s some kind of educational program to go with it, which is more than we ever hoped for for this exhibit. We just hoped to spark some interest from students, but it has become so much more than that. We’re also at the FDA this year, which I think it would be beneficial for the FDA to see these kids. We’re going to Children’s of Alabama, Children’s of Texas, and we’re going to Quinnipiac, so we’re pretty excited.

The only limitation that we have here right now is it’s certainly not demand. It is supply. We could have been at many more venues, we just do not have the supply right now. We’re about up to 100 portraits, so after Rare Disease Day winds down, we do have more artists. We do have more patients that want to participate, so we’re going to start matching the artists and start a new process of creating artwork.

Right now we are representing about 100 different rare diseases. The idea is that eventually, we get to 7,000 portraits and there’s a face for every disease. That’s what we hope to do. It’s really, really ambitious but I can’t believe how far that we’ve come in the past two years.

It’s interesting. It’s an interesting process, but right now we’re also trying to make it go global, so we’re working with organizations around the world because it’s a global issue, and the art exhibit has been an extraordinary and successful way to engage people that otherwise would not have been engaged. Not just the medical community. I’ve had people contact me that want to volunteer for RDUF that have nothing to do with rare diseases. They just happen to see the CBS piece and now they can connect to us.

It’s hard to connect to rare diseases because even when you just hear rare diseases, you think uncommon. The general public doesn’t become engaged. They don’t know the story of rare diseases. They don’t know how long it takes. They don’t know we don’t have treatments. They don’t know that there are children that are suffering and dying, and they don’t know how many millions of people are affected.

Personally, I’ve recently become very, very interested in some research that’s come out for my daughters’ disease, which is fantastic because there really hasn’t been a lot going on. It means everything. This is what we need, but we’re starting at the bottom. We need awareness first. We need people to know we exist before they decide let’s start researching this.

The interest in rare disease treatments is not old. Even though the Orphan Drug Act has been around for 35 years, the interest in rare diseases, and the amount of treatments that have come out about rare diseases is relatively new and I think there’s a lot of things to do with that. I mean, 35 years ago we couldn’t map the human genome so we didn’t know. There wasn’t a lot of research going on for these genetic diseases, especially these rare genetic diseases, so now we get the map of the human genome, and then it’s $100,000 to get somebody’s sequence. Well now it’s a lot cheaper.

I’m Patricia Weltin and I am aware that I am rare!

Listen to “I’m Aware That I’m Rare: the phaware™ podcast” at www.phaware.global/podcast. Learn more about pulmonary hypertension at www.phaware.global. #phaware

JOIN THE CONVERSATION

Related to Pulmonary Hypertension

woman holding a hot cup of tea and blowing on it

Nice to Meet You, I'm Sick

For the past three years I have tried to keep the mentality that I am not defined by pulmonary hypertension. I try to avoid referring to myself as a “patient,” and avoid using phrases like “my disease.” I happen to have a disease, but I don’t want to limit myself as being defined by it. Do I have [...]
ph aware banner

I'm Aware That I'm Rare: Jacqueline R. Szmuszkovicz, MD

Dr. Szmuszkovicz works in Los Angeles, CA and specializes in Pediatric Cardiology. She provides comprehensive care to patients with cardiovascular problems. Dr. Szmuszkovicz is affiliated with Children’s Hospital Los Angeles, Hollywood Presbyterian Medical Center and LAC USC Medical Center. Transcript: My name is Jackie Szmuszkovicz. I’m a pediatric cardiologist. I work in Los Angeles at [...]
ph aware banner

I'm Aware That I'm Rare: Kim M. Kerr, MD

Kim M. Kerr, MD, is a board-certified pulmonologist. Her clinical and research interests are in chronic thromboembolic pulmonary hypertension (CTEPH) and critical care. She is involved in both inpatient and outpatient clinical trials studying pulmonary vascular disease and critical care medicine. Dr. Kerr is Clinical Professor of Medicine and the Medical Director of the Thornton [...]
ph aware banner

I'm Aware That I'm Rare: Roham T. Zamanian, MD

Dr. Zamanian is the Director of the Adult Pulmonary Hypertension (PH) Program at Stanford University Medical Center. He currently directs the Vera Moulton Wall Center clinical database and biobank and focuses his research on clinical characterization and impact of novel risk factors such as methamphetamine use, and biomarkers, such as insulin resistance, in pulmonary arterial [...]