I'm Aware That I'm Rare: the phaware® podcast

In this episode, Dr. Morris Salem, a pediatric cardiologist, discusses his involvement with Camp del Corazon, a camp for children with congenital heart disease. Dr. Salem emphasizes the importance of addressing the emotional well-being of these patients, in addition to their physical health. He believes that the camp helps boost their self-confidence and allows them to have normal experiences. Dr. Salem also mentions the positive impact the camp has on parents, some of whom become involved in planning and fundraising for the organization.

Dr. Salem is also a 2024 Gala del Sol Honoree. This gala is a major fundraiser for the camp taking place Saturday, April 13, 2024. Click Here for Tickets. Click Here to take part in the virtual auction. 

#galadelsol #campdelcorazon #heartcamp #camplove #supportagoodcause 

Hi, my name is Dr. Morris Salem. I am a board certified pediatric cardiologist and I have an additional board certification in adult congenital heart disease. I work at Kaiser Permanente in Southern California and I am happy to say that I'm one of the honorees at the Gala del Sol, that's going to be occurring on April 13th, 2024.

I've been involved with this camp, Camp del Corazon, for over 20 years. I was very close friends with the founders of this camp, Lisa Knight, and I continue to be very close friends with Kevin Shannon, MD. Over the last 20 some odd years, I've been referring lots of patients to this camp. It's truly been an incredible experience when these patients come back and tell me about the best time that they've had in their entire lives and that they want to go back.

I have on my desk right in front of me a prescription pad that says, "This is a prescription from me to you to go to camp." I find kids that are 7, 8, 10, 12, teenagers who are shy, who are in a space in their lives where they're not confident at all. They don't have a whole lot of friends and they're not feeling confident about themselves. In the 15, 20, 30 minutes that they're in the office with me, it's pretty obvious. I've known a lot of these patients their entire lives from when there were fetuses all the way up to however old they are, and you can tell. You can tell that they're just not confident. They are very gun shy and perhaps very self-conscious about who they are and what they're able to do and what their role is in life. Every time I see one of these patients, I run to my office, grab a prescription and hand it over to them. I tell them that they have to do this. This is a requirement. This is medication. A fair number of them actually take me up on it and sign up for camp.

A lot of these kids are really sheltered by their parents just because of everything they've been through. The parents are just as hesitant as the kids are in terms of letting their little babies go off and do whatever they need to do. Now, obviously they're not babies, they're older kids, but they treat them like they're a piece of ceramic. They're very, very sheltered. It is quite difficult to get both the parents and the kids to agree to go to this, but a lot of times there's a lot of tears shed on both the parents' part and the kids' parts before they leave. But once they get there, it is a transformative experience. It is one that completely changes their outlook on life. They don't want to come back.

I had one patient, recently, who fit this scenario precisely. Parents didn't want him to go. He didn't want to go. I forced him to go. He went and due to some weather circumstances, they actually got trapped there for an extra day or two and he did not want to come back. Absolutely did not want to come back. I saw him shortly after his trip and he was just glowing, bubbling. He's going to be a frequent flyer. He's going to keep going back until somebody tells him he cannot go back anymore.

It's always very difficult when you get patients who have done nothing wrong. This is not of any fault of themselves. This is something that's just happened to them and unfortunately they have to learn to deal with it, and our job is not just to help them deal with it from a physical standpoint, but also from an emotional standpoint. The physical standpoint, we can take care of. We have medications, we have procedures, we have all sorts of different things that we can do. We can tell you with the ultrasound what the heart function looks like. We can give it numbers, but the emotional aspect is something that's a lot more challenging for us to deal with.

Learning how to treat these patients as not just as patients, but as human beings who think like any other child does. They need to experience things that other kids who don't have these limitations and don't have to think about, can I do this? Can I not do this? Should I do it? Should I not do it? That's really what keeps us going and keeps us motivated to keep pushing and treating these patients and helping them to have normal experiences. That's what the point of all of this is, not just the body, but the mind and the soul.

I think camp and self-confidence and your ability to see your self-worth as who you truly are and not as a diagnosis really helps open up a lot of opportunities for you. These kids come back and they want to do things. They want to go out and run a little bit faster in PE. They want to join that team. Maybe they're not the fastest, maybe they're not the strongest. It doesn't matter. They just want to be involved. That in and of itself really helps to propel them and open up more and more and more doors and really make them productive members of our society, which is very important.

It's very interesting, I think a lot of our parents are also incredibly positively impacted by this camp experience that their children have. One of my parents of a child who actually attended camp has actually become very, very invested and very, very involved in the camp in terms of planning and in terms of fundraising, in terms of all aspects of this camp. It is a sense of belonging. It's a sense of making a difference and taking this experience that you had nothing to do with provoking or bringing onto yourself, but turning it into a positive aspect and turning it into something that you can share with other people who are going through the same experience.

Being at Kaiser, we take care of roughly 5 million members in the Southern California region. As you can imagine, that's a huge, huge number of patients that we deal with. I've been at Kaiser close to 25 years, and I've seen and taken care of thousands upon thousands of patients. Part of what I do is really coordinate and take care of all sorts of patients with congenital heart disease and all sorts of associated conditions from San Diego all the way up to Bakersfield.

I'm well known and affiliated with all the major institutions in town, including UCLA, Children's Hospital of LA, Loma Linda, everybody in Southern California. It's through my affiliation with all these institutions and my referral to the camp, many, many patients over the last 20 years, that the camp committee took notice and said, "Wait a second. Maybe this guy who does a lot of work and refers a lot of patients should be someone we recognize."

I really want to encourage everybody to look into this amazing organization, Camp del Corazon. They are a purely volunteer led organization with one goal and one goal only in mind, and that is to take care of these children and their families with congenital heart disease. They do this out of love. They do this out of commitment. They do this out of a sense of purpose. This Gala that's set for April 13th, 2024 is their major fundraiser. It is where they collect a majority of the funds that they're going to be utilizing over the summertime for this camp that is held in Catalina.

This camp is really intended for patients who are special, patients with congenital heart disease, other affiliated conditions like pulmonary hypertension, anything that involves the heart and the lungs as a chronic issue. These are the types of kids that attend this camp in a very safe and very closely monitored fashion so nothing can happen to them. If it does, there are people there who can take care of them and make sure that they're safe. It is free of costs. All expenses are completely paid for, mainly from fundraisers such as this. There is a virtual camp for families that cannot make it to California to make it to this camp.

There is both a silent auction and a live auction that will be offered at Gala del Sol on April 13th. That is well, well worth everyone to sign in and look at if you can't physically make it to this Gala.

My name is Dr. Morris Salem and I'm aware that my patients are rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware Share your story: info@phaware.com

In this episode, Dr. Morris Salem, a pediatric cardiologist, discusses his involvement with Camp del Corazon, a camp for children with congenital heart disease. Dr. Salem emphasizes the importance of addressing the emotional well-being of these patients, in addition to their physical health. He believes that the camp helps boost their self-confidence and allows them to have normal experiences. Dr. Salem also mentions the positive impact the camp has on parents, some of whom become involved in planning and fundraising for the organization.

Dr. Salem is also a 2024 Gala del Sol Honoree. This gala is a major fundraiser for the camp taking place Saturday, April 13, 2024. Click Here for Tickets. Click Here to take part in the virtual auction.

#galadelsol #campdelcorazon #heartcamp #camplove #supportagoodcause 

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware Share your story: info@phaware.com

Brittany Valim shares her experience with pulmonary hypertension and her journey towards a heart and double lung transplant. She now lives a fulfilling life as a mother, student, and aspiring nurse. Brittany encourages others to embrace life and ride the wave, appreciating the rarity of their experiences.

Hello, my name is Brittany Valim. I am 34 years old, and I was diagnosed with pulmonary hypertension in 2010. In 2009, I decided to go on a big hike, they're called the Punch Bowls in Santa Paula, California. I noticed walking up to the trail, which is a really steep hill, I started getting out of breath. I thought it was just because I just had a baby two years ago and I'm overweight. We kept going on this trail. The more and more I kept going, the more and more I started losing breath. I was holding onto tree branches to climb up these hills. Finally, when I got down from the hike, five hours later, I decided that I was going to relax and just figured my body was just not ready for that. I decided that I was going to go to the doctors.

I was wrongly diagnosed for a year with high blood pressure. I was rushed to the ER after many other ER visits and I was told I had pulmonary hypertension. They sent me home to go see another doctor who disagreed with the emergency room doctors. A month later, I was rushed to the ER again, and that's when I was kept in ICU and was told that my heart was so bad that I could have possibly died.

When I was in the ICU, they were trying many different IV medications. I remember them trying one of them. I remember getting so sick that we could not do it. I think I was in the ICU for about two to three weeks. My hardest thing was not, “Oh my goodness, this disease I have,” it was more, “My son is at home, and I cannot see him,” because the swine flu was pretty big at that time, so no visitors could really come in.

There were people passing away all around me, so that was freaking me out and giving me anxiety. Then, at the end of my stay, we finally figured that Letairis and sildenafil would be my treatment from then on out. I have idiopathic pulmonary hypertension. They have no idea how I got it. I believe that it was from my son. I can't quote that, no doctor has said that's what it's from. But when I look at pictures from after me being pregnant until I was sick, my neck was pretty swollen and so was my face. I just took that as maybe my heart had a lot of fluid around it, and no one really saw it before then.

I was 21 years old, and I wanted to do what every other 21-year-old wanted to do, and that was going dancing and hanging out with friends. So, those first years, actually, for a long time, I struggled with having this diagnosis because I was in my 20s, and I just wanted to hide everything under the rug, so I acted like everything was fine. I went out and probably did way too much more on my body than I should have, but I was still taking medication.

In 2018, I got sent to the ICU again. We used to tell my son that it's just, "Mom needs a tune-up. Mom needs a tune-up." I was put in there, and my doctor and my nurse at Santa Barbara Cottage Hospital sat me down and told me, "Hey, look, we need to try something new." They came up with the IV meds, the sub-q and Tyvaso at the time. I was in my late twenties now, and I said, "Oh, I want Tyvaso." I was going to beauty school, so I didn't want a pump. The thought of having something attached to me all the time just was not for me. I did good on Tyvaso, but I hated taking it. After I started Tyvaso, I was able to go to the gym. I was able to kayak with my family at that time, but I was just not compliant with taking it. It was just too bulky. I had to put it in a bag and everybody always stared at me when I was taking it. I was over it.

I decided to tell my doctor that I did not want to do it anymore, and I was no longer compliant with it. He suggested that I do sub-q or IV. I had a serious talk with my nurse, at that time, at Santa Barbara who is amazing, she's my saving grace. She told me that sub-q would be really hard, and that's when I decided I want the intravenous line. From then on out I was taking it and it was making me very sick for a long time.

I finally realized that, hey, I need to change my life and what I'm doing. When I got sent home on oxygen that same time, the pump isn't what scared me so much, it was the oxygen that got me shook. That's what caused me to say, this is the real deal now, this could be your life forever being on oxygen and that's when I decided to change my partying habits, my cooking habits, my exercising habits. I was ready to change. IV meds, did save my life for a while.

For about five or six years, I was on IV meds, and in 2018 when I moved to San Jose, California from where I had been before, I started noticing that I was just not breathing well. I couldn't work as much. I was getting sick more often. We started talking about the transplant list. So in February, in 2020 is when I officially got put on the transplant list. I had to have my mom come in and help me live, because there's times I couldn't even get out of bed I was so weak. I needed help with my son. Just house cleaning, I have two dogs. But it still didn't hit that, “Oh my goodness, I'm one day going to be on a table and I'm going to get lungs and a heart.” It didn't really hit me yet.

When I was first diagnosed with PH, I was really alone. I didn't know that there was these groups online. Every time I went to a support group, they were all older than me. Everybody was older. I just didn't feel connected to anybody, so I felt like very alone. My mom, we were fighting a lot, because she would tell me things that I shouldn't be doing. I was telling her, I'm a grown woman, I know what's right for me. I know when to take a break. It was just really hard at first and towards the end, that's when I finally felt support from my friends, family. Then, I started becoming closer to people on Facebook. Then I started reaching out to people on Instagram. Then, I backed away for a little bit because I was starting to face the realities. I was going through so many things. I thought I was having a heart attack at times when it was just anxiety.

I had a lot of support, especially from family. I had family and friends were more supportive than I've ever thought. I had so many cheerleaders of people who I had been friends with for years on Facebook and Instagram. They were just cheering me on every day. That's when I started showing my stages of this is me today, this is how I feel.

One weekend, I was with my family, it was my best friend who is my cousin, it was her baby shower. That following Monday I got a call saying, "Brittany, we noticed some of your symptoms and some of your testing, we would like you to come into the hospital. We just want to check you out." I said, "Okay." I went in. They did more testing. They let me go home. I got a call on a Wednesday and they said, "Hey, I want you to enjoy your weekend with your family, but on Monday, I think it's time to put you on ECMO if we don't get a call before then."

That following Friday morning, I got woken up by my boyfriend and he's telling me, "Brittany, they're calling you. They're calling you." I said, "Why are you lying to me? Why are you lying to me? Why would you even say something like that?" He said, "No, I'm serious." Because for some reason I turned my ringer off. My mom came running in my room and she's like, "No, Brittany, you need to call them back." I called them back and then that was the reality of me getting a heart and lung transplant. This was at five o'clock in the morning is when I called them back. They told me that I needed to be at the hospital by eight o'clock.

Well, when I got the call, I sat there in awe for a second, because my son was still sleeping, and that was the hardest thing for me to do was leave my son. I wanted to wake him up. Well, I tried to, I don't know if anybody's ever tried to wake up a 13-year-old. They refuse to wake up. I tried and he was just kind of like, "Okay, okay, bye." Of course, being a mom and my son is my rock, that was really hard. I decided I wanted to take a shower, because I wanted to be clean. That's when we started packing my bags. But my mom said if there is anything else I needed that she would definitely pack a bag for me.

To get to the hospital, it was about 40 minutes. Since it was during COVID, only one person can take me up to the room. My mom chose my boyfriend to do that. I was sad about that, but I was really happy, because me and my mom were very close and I know she was stressing out. So if we had been together, I feel like I would've gone into the OR with all of this anxiety, because I knew that my mom was hurting. I wasn't even thinking of me. I was just thinking about how sad my mom, but happy she was and so scared was. I couldn't even think about how scared I was.

When they were ready for me, they allowed my boyfriend to wheel me down in a wheelchair to the OR. I remember talking to all the nurses. My stomach was just in my throat. They were asking me what type of music I wanted. I told them I don't even care what kind of music there was. I remember joking with the nurse, sitting on the table staring at this white ceiling with the big hood light. I remember telling her, "Has anybody ever told you no, nevermind. I need to go." She was like, "No, nobody has." I said, "Well, I might just be your first one to want to leave the OR." We kind of laughed about it and she gave me encouraging words. As soon as that phone rang, I heard one of the nurses in the OR say, "Okay, it's time to go." They told me to count backwards, and I don't even think I remember counting.

It was a 12 hour surgery. I got out. I think it was three hours out of the surgery I started bleeding into my lungs and they had to take me back to the OR. They told my mom that it is pretty common for that to happen. After that, everything was pretty well except for waking up and realizing you cannot see. That was the hard part. I had TED's disease, so I woke up with very, very blurred vision. I couldn't see who my nurses were. I couldn't see who my doctors were. I couldn't see where my mom was. I couldn't see anything. My eyes were just so blurry I could not see. In the end, we think that it happened to be with so much trauma on your body that it caused me to have retinal detachment in both eyes.

Within these three years, because my transplant was in 2020. My right eye is pretty good. I still can't see very well through my left eye. I think that's just damaged for good. My life has been forever changed. I did have a bump in the road, of course, diabetes. Diabetes comes with the territory of transplant, but mine has stayed with me. I got put in the hospital, I believe it was six months after transplant. I was just not feeling good. I was throwing up and I finally called my team because my mom, of course, made me, and my boyfriend was like, "Yeah, you do need to call the doctors." I did. I went into the ER and my blood sugar was at 650, my glucose.

After that, I started realizing, okay, I definitely need to eat a lot better, which I was pretty much doing anyways because you're on so many restrictions out of transplant. You have slow emptying of your stomach. You have all of this stuff, so you can't eat fiber. Your potassium might be too high. So you're trying to figure all this out. I remember being on a high dose of steroids. I actually yelled at my mom, in one of the grocery stores, because I didn't know what to eat anymore. I just told her I wanted a starve and not eat anymore. But diabetes was my only bump in the road.

I consider myself very lucky. I am the mom that I've wanted to be. I wish I can go back and be this mom back then with PH, but it was obviously hard. I am going to school now. I am a full-time nanny and I take ballet. I've been a dancer for a very long time. I did it in high school. I just always loved to dance, and I finally took myself to the JC here, and I decided to do ballet for fun.

If I could give advice to someone in their twenties or just anybody in general or to my 21-year-old self, I would say ask for help. Find other people who are like you, or people going through the same thing as you, because they really do know what you're going through, emotionally, physically, they do. I know everybody's tolerance level for pain and emotions are always different, but you need someone to talk to. It's really hard to do this alone. I tried it and it wasn't the greatest.

With a PH diagnosis, I didn't really live day-to-day. I didn't think of myself as passing away. I never thought about that, because I don't know if it has to do with me being a mom or not, but I just could not fathom not being here. I would fight to stay here just for my son. After having the diagnosis, I still have a great outlook on life. I ride the wave, definitely ride the wave.

I now go to school and I'm going to school to be a nurse, and while I'm waiting for the nursing program, I would love to get into med school. I plan to be an endocrinologist. I've never been able to think about school, it was always, "Am I going to have enough money? How am I going to work? Can I work? Am I too sick to work?" Now I don't have that anymore. I don't have that, am I too sick? I don't feel sick anymore.

My nurses, I have to thank. There's one in particular, and if she listens to this, she knows who she is. She was not just a nurse, but she did above and beyond. I'm sure there's nurses that are great out there, but she still my cheerleader today.

My name is Brittany Scarlet Valim, and I am aware that I am rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com 

In this episode, Brittany Valim shares her experience with pulmonary hypertension and her journey towards a heart and double lung transplant. She now lives a fulfilling life as a mother, student, and aspiring nurse. Brittany encourages others to embrace life and ride the wave, appreciating the rarity of their experiences.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com 

Stroke survivor and journalist, Cam Wells, discusses his mission to change the way disability stories are portrayed in the media.

Cam also discusses his work in the disability community, including his involvement with the Italian Canadian HandiCapable Association, which provides sports and recreation opportunities for people with disabilities.

Cam believes that disabilities and rare conditions affect everyone in some way and advocates for inclusivity and respect. #RareDiseaseDay

My name is Cam Wells. I am a stroke survivor and I hold four diplomas from St. Clair College. After getting the first one, which is journalism, I came to realize there's a great imbalance in the way disability stories are typically portrayed in the media. Portrayed as either really bitter or really inspirational. You don't often see the middle ground. I figured after graduating, I could set myself the task of trying to change all that. I've been actually doing a show [Handi Link].  for 15 years now. As a person with a disability myself, I've come to appreciate that there are so many beautiful shades out there to be appreciated. I've actually been honored both locally and nationally. I'm a nominee for Canada's Disability Hall of Fame. God willing, I'll actually get it sometime.

I've interviewed everyone from a cast member of TV's Breaking Bad to a couple from Corner Gas, but really the best stories are the ones that come totally out of the blue. Like during the opening of the pandemic, there's a quadriplegic pilot, a friend of mine who had lost I think it was his home and his vehicle to a fire. The health restrictions didn't allow people to do very much, but this town got together and they said, "We want to rebuild for this guy. He's part of our community." So they took it upon themselves and did what they could to help him out.

I was your typical kid. I didn't know much about the world beyond just your typical kid. You go to school, you spend time with your friends and family. That was my world. September 29th, 1995, I was eating a can of frozen juice, I remember. I was at school having lunch and I thought I was having a brain freeze. Must've been the world's biggest brain freeze, because it resulted in a first round of neurosurgery and six days in a coma, which is I might add, the only time in my whole life I got enough sleep, but I couldn't move my left side.

For 35 days, I was in the hospital and went through various rehab procedures only to find that part of the anomaly in my brain had been left behind. They couldn't get it. I had what was essentially an experimental procedure at that point. I was the youngest kid they had ever done it on at this hospital. It wasn't available where I was, so thanks to a long and tedious insurance battle, ultimately, we were able to get what was called gamma knife surgery and successfully remove the anomaly.

I came back a different person. The truth is, I would not change it for anything. I basically discovered who and what I am spending time among people with disabilities and various rare conditions. In an academic sense, yeah, you can learn the medical model of this condition may be this or that, but you can't learn the strength factor. For every condition out there, there's always that one unaccountable person who's defied the odds. The best way of learning about such people, just spend time with them. Share a meal, share some time, tell them a bad joke, what have you.

Probably the biggest moment for me was... and I’m not real proud of this, but I chose entirely the wrong program my first year of college, entirely the wrong thing. I figured because I was working in a job related to the field, I'd be good at the academic side. I was not. I actually found myself academically dismissed from the college. Through various acts of misunderstanding, I was basically forced out and spent an entire summer begging to get back in. But when I found myself doing the correct field of study, something I could do, a journalism scholarship was granted to me by a disability group that I now work for. That's where I met Egidio Novelletto, a man who was advocating for his people.

I grew more and more fascinated by the work they were doing, and I started writing articles on the subject and even did a field placement doing public relations materials for them. I realized that so many stories are just not shared. You look at a traditional sports page and you'll see some great athletics, but every night of the week, there's disabilities athletics. There's people who medically complex. They're out there doing it. They're putting on a great show, playing a great game, but where is the representation of that?

Now, it was a long gap between my years in elementary school, which I was in when I had the stroke and my years in college, but the funny thing is the reporter who did the story on the experimental surgery I alluded to was actually later one of my professors. As a graduation gift, I gave her what may be the only surviving copy of that footage.

I became more and more fascinated by the world of disabilities, and since I was doing PR for them, I wasn't able to do anything with the radio station at the time, but the program director, she left the door open. She basically said, "If ever you want to do anything, come and pitch a show for us." Basically upon graduating, I went to them and I said, "Hey, can I do something on disability issues?" Well, the rest is history. However, I realized that there were others involved in similarly interested stuff.

I actually worked with a team in 2013 to release a guide for radio stations on accessibility. Some of the things people don't think about like adapting your physical space, or some of the language you use. Even things as simple as the lighting for people with seizure disorder. I'm coming to realize that I wasn't the only person who actually wanted to see the best in people, wanting to see them living up to their own strengths. It was really an eye-opening experience.

One thing I always have maintained, when a person with a disability gets up and they make toast, that is not inspirational per se. That is called breakfast. That is a very human thing. But really people with disabilities, they do what they do just to live the best life they can. That is the principal reason behind my work.

As a trained reporter, I love a good story. I love hearing tales of what society doesn't think is possible. I thrive on that. But yeah, in a way, owning it for myself is part of the process. One thing that I've shared any number of times, I had a childhood bully, horrible, horrible experience, I might add. He used to try and stick magnets to my leg to see if it was real, and as I do the show sometimes when I'm interviewing somebody working with younger kids, I think to myself, "I don't want anyone to have those feelings that I experienced in my own youth. I don't want anyone to ever ask the question, am I good enough?" Knowing that you're rare, knowing that you're unique is a way of owning it.

I have a friend, Daniel Brenner, great, great guy. He's actually a robbery survivor. He was shot as a child and witnessed several people in his family being essentially murdered in front of him. He was told he'd never walk again, but he picked up a guitar and he used a form of self-healing. He actually gets by just fine now. In fact, I have another friend named Renee who runs a music studio, and she was looking for a teacher, so I introduced them and now they're working together.

One of my primary roles in the disability community is working for the Italian Canadian HandiCapable Association, which is an organization that does sports and recreation for persons with disabilities. It's my honor to work alongside them as they provide things like yoga, tae kwon do, soccer, all manner of things for people with disabilities who might not necessarily have any other athletic opportunity. Fact is, when you're out there and you're an athlete with a disability or anything medically complex, you're not thinking about the factors that might hold you down. You're not thinking about somebody telling you you're not good enough or you'll never do that. You're just living in the moment and enjoying the game. The ICHA was founded by a man named Egidio Novelletto, whose son wasn't allowed to participate in a traditional soccer program, which was a very eye-opening experience for him. He decided to found a charity, and working with various levels of government, he was able to build a complex and establish something meaningful for persons with disabilities to be a part of. Normally, that's where it comes from. Having somebody personally connected, it's usually the gateway.

Truth is, when it comes to disabilities, rare conditions, they affect us all. There's a term I heard in my work once, not disabled yet, meaning we prepare terms of respect and inclusion. We're only making our own futures better in so much as we're all affected. If you pass 10 people in the street, somebody's got some factor that makes them unique. Somebody has a mental health concern or an emotional disability, or maybe somebody in a wheelchair.

One of my primary sources of information is NORD, the National Organization for Rare Disorders. I consult them on an almost weekly basis to reach out to disability and rare disease groups around the world. My thinking is if it's affecting one person here, it's affecting others out there. I figure it's a universal concept, or rather a series of universal concepts. Yeah, you can solve the problem for yourself at home. That's great, but if others around the world don't have the same access to medical information or don't have the same resources or even wherewithal to ask those questions...

A few years ago, I actually interviewed an accessible theater in China and I might add I had a very difficult time placing that call due to various satellite connections, but they actually have this great thing where they have a sign language interpreter in stage productions. However, they're an acknowledged character. They're part of the show. Are they providing a service for the audience? Sure they are, but they're actually included. It's shown me what the world really is, if that makes any sense. I've met people and learned things I never would have otherwise.

Honestly, one of the greatest people I ever knew, Dr. Marcia Rioux, she was the head of Disability Rights Promotion International, God rest her soul. She introduced me actually to one of the UN Representatives who was involved in writing some of the disability legislation that has now been embraced pretty much the world over.

The work I do, there is no end, honestly. It's a stepping stone, but it's incumbent on everyone to try and take that step forward. I always say on the air, it's not about an immediate cure, but it's about the work towards getting there and disability, rare conditions, they affect us all. Maybe you're not the one affected directly. Maybe you're friends with a caregiver, or maybe you just happen to have a friend of a friend. It's the degrees of separation.

You can't look at any family. You can't go back all the way or as far back as humanly possible and not find some factor that makes a person unique or rare. As we go, we gain understanding. Look at things like chronic fatigue syndrome. That's a big one. 20 years ago, doctors would argue, "No, that's not a thing. You're just getting old. Just go home, get some sleep. These days, we look at it and we recognize this is a condition. It's about taking the next step forward. It's not about listening to anyone who says, "There is this glass ceiling. This is as far as you can go." Progress is built on the idea that a person will test it for themselves.

I had a professor once, a lady I actually have a lot of respect for now who told me it was physically impossible for me to pass some speed drills in my college days, because I only type with one finger. My exact response, "Watch me." And I got through it. There's one story I would like to share as a shout-out to some of the people that I've had the pleasure of meeting over the years. You never know who's going to be connected to who, so keeping an open mind and supporting others.

27 years prior to this, I remember there was a cartoon I loved watching. After the stroke, it was part of my rehab. It was my one half-hour during the week that I didn't have to think about the rehab or the pain. An organization I worked with provided some promotion for Easterseals. They happened to have two of the voice actors from that show speaking at an event in Windsor. So I called in a favor, got photos with them, autographs, and just got to share a little bit of their story. After all those years, I was able to say, "Your show saved my life, so thank you for that." It was actually the 90s X-Men. I was a bit of a comic enthusiast. I actually got to meet Gambit and Rogue, nicest people in the world. They were so kind to me, I cannot stress that enough. But the fact that I had a chance to actually tell them what their work had meant to me.

It's important in any condition, any rare disease, just to acknowledge when somebody is there, when somebody does some good. Yeah, there's a lot of hardships people have to endure, but there's always support and if you find the right people and you show them that you appreciate what they do, it just stays with them.

My name is Cam Wells and I'm aware that I'm rare.

@RareDiseases @DRPI_global @EasterSeals @CJAMFM 

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com 

In this episode, stroke survivor and journalist, Cam Wells, discusses his mission to change the way disability stories are portrayed in the media.

Cam also discusses his work in the disability community, including his involvement with the Italian Canadian HandiCapable Association, which provides sports and recreation opportunities for people with disabilities.

Cam believes that disabilities and rare conditions affect everyone in some way and advocates for inclusivity and respect. #RareDiseaseDay

@RareDiseases @DRPI_global @EasterSeals @CJAMFM 

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com 

Harm Bogaard, MD, Ph.D., FAHA is a pulmonologist at the Amsterdam UMC. In this episode, he discusses the use of magnetic resonance imaging (MRI) in monitoring pulmonary hypertension patients. Dr. Bogaard explains that MRI is a valuable tool for assessing the function and structure of the right heart, which is crucial in determining the prognosis and long-term outcomes of patients with pulmonary hypertension.

My name is Harm Bogaard. I'm a pulmonologist here in Amsterdam in the Netherlands. I work at the National Expert Center for pulmonary hypertension patients. We have a clinic, obviously, with patients mainly with idiopathic and hereditary PAH. We also have a chronic thromboembolic pulmonary hypertension (CTEPH) program with diagnostics, surgeries, balloon pulmonary angioplasty. In addition to my clinical work, we have a translational lab to find out more about different forms of pulmonary hypertension and its treatment.

Today, I would like to tell you a little bit about how we use magnetic resonance imaging in the Netherlands to monitor our pulmonary hypertension patients. We started doing this 20 years ago to use non-invasive imaging by magnetic resonance imaging or MRI to basically follow the function and structure of the right heart in our patients. It's been known for quite some time that the prognosis and the long-term outcomes in patients with pulmonary hypertension are really determined by the capacity of the right heart to adapt to the high load. Exercise testing, like the six-minute walk test, provides some indirect information about the functioning of the right heart. NT-proBNP does the same thing. Echocardiography also gives you some clue as to how well the right heart adapts, but the right heart is quite difficult to understand and also to image by echocardiography. We've found some 20 years ago already that MRI is really a fantastic tool to get a really good grip on the adaptation of the right heart.

We started following our patients (around 2,000) with MRI. We did a lot of research, so we showed that MRI gives very valuable prognostic information. We also learned a lot about how physiologically the right heart adapts to high pressure. Now, we've really adopted the use of MRI in our routine follow-up. So, it basically means that we hardly ever do a repeat right heart catheterization in our patients. We used to do many. We used to do like four months after initiation of treatment, and then after one year, after two years, after three years, we did a lot of right heart catheterizations. But now, we've gathered so much data with MRI, we really know that we can get very similar or sometimes even better information by doing a non-invasive MRI.

The setting in our hospital is quite unique because the hospital is devoted to imaging and we get some really good deals basically by the hospital or administration to do this in a very cheap way and to get the personnel to do this. I know that it's difficult in many other hospitals. There's limited time available for MRI scanning, it's expensive. I wish the situation would be better because I really feel that this is a great way for patients to be followed.

The only downside is that some patients are claustrophobic. It is a tight space. Fortunately, the more modern MRIs are a little bit bigger, so it doesn't feel so cramped anymore, but some people do have some problems with getting into this tube. Fortunately, it's only a small minority and most of our patients we can follow really well by doing MRI.

We can even do some more sophisticated testing. We have the possibility to do exercise in the MRI, so patients are on a recumbent bike. They can stress their heart and we can look at how the heart adapts to exercise, which gives a ton of additional information. By using different techniques, we can look at the development of scar tissue in the heart, which is also important prognostic information development fibrosis in the right heart. We can look at how well the heart readjusts when given treatment. We can easily look at basically how much treatment you need to give to get a really good response in the right heart. We make great use of it and we hope that the technique can be implemented in a much larger scale. Maybe in clinical management of patients, but also as an endpoint in trials MRI could be really useful.

In many countries, right heart catheterization is still considered the best way to diagnose your patients in the first place and also to follow your patients. I think for a proper diagnosis, I fully agree, a right heart catheterization is still necessary, because right heart catheterization gives you the only real means by which you can make a distinction between real pulmonary vascular disease or other causes of pulmonary hypertension. Even though there are definitely developments in imaging, if we still see it the same in 10 or 15 years, I think then we probably (will) get rid of a right heart catheterization altogether. But right now, for diagnosis, I still have to agree that the right heart catheterization is what you need to do. But for follow-up, by now, we really know which parameters that you get from a right heart catheterization, which are informative; which is basically stroke volume, which is the most informative value from a right heart catheterization. We can derive this perfectly with MRI.

In the follow-up of your patients, I don’t think there's a real need to do a repeat right heart catheterization unless maybe you do still have some doubt as to whether you have the diagnosis righ. Maybe that's still a reason to do it. But in general, I think all of the important prognostic parameters that you can get from right heart catheterization, you get from MRI.

Of course, I can recommend to ask for an MRI. But yeah, if the local situation is as such that is not available, then, yeah, there's maybe not much that you can do other than using the techniques that are available. I'm not saying that you can only follow your patient right with MRI, because there are alternatives you can do a right heart catheterization and be informed in that way. So, it's not that you're not getting the right treatment, but it's a little bit more non-invasive of course, if you can do an MRI. So, if it is reimbursed, if there are possibilities, then go for it. Ask your doctor to get an MRI.

So here in the Netherlands, we are in a situation that we can use MRI and I'm really grateful for it and it's really helpful. I'm not saying that you cannot follow your patient in a proper way if you don't use MRI. There are definitely other ways to do an excellent monitoring and provide the best care to your patients, but I do know that MRI makes it a little bit easier. To be able to do this in a non-invasive way is very comfortable for the patient friendly. So, I hope the technique will become more widely available.

I'm Harm Bogaard and I'm aware that my patients are rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com #phawareMD 

Harm Bogaard, MD, Ph.D., FAHA is a pulmonologist at the Amsterdam UMC. In this episode, he discusses the use of magnetic resonance imaging (MRI) in monitoring pulmonary hypertension patients. Dr. Bogaard explains that MRI is a valuable tool for assessing the function and structure of the right heart, which is crucial in determining the prognosis and long-term outcomes of patients with pulmonary hypertension.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com #phawareMD 

Pulmonary hypertension patient, Dawn Clarke, a resident of the Mississaugas of the Credit First Nation in Southern Ontario. Despite her rare disease diagnosis, Dawn decided to focus on her mental health and explore her creative passions. She emphasizes the importance of looking after all aspects of one's well-being, including physical, mental, emotional, and spiritual health. She encourages others to find their purpose and make positive changes in their lives, even in the face of challenges. 

My name is Dawn Clarke. I am currently residing on the Mississaugas of the Credit First Nation, Hagersville, Southern Ontario. This is my mother's homestead, where she's come from. She's indigenous. My father is from Cape Breton, Nova Scotia. He is non-indigenous or what we used to call him, Caucasian. I grew up in the military life, my father was in the military. My mom was quite young when she had me and got with my dad and started moving around to different places. Life at the beginning was a little complicated for me. Both parents were strict and that's how my upbringing was with all the things that go along with that. So I became a really quiet person. I should start off too by saying that I did a have congenital heart defects and heart surgery at four months of age. Incidentally, my parents were not at the surgery, so they were about two hours away when I did my surgery. They were back home.

They didn't have a vehicle, so I had no parent there at hospital during my open heart surgery. I did find out about that years later. I believe that there's a lot of childhood traumas that help lead up to the health of where people are now into adulthood. That was something that I had to deal with. So I did get surgery at infancy. I had intended on joining the military. I had actually passed all my testing. I did really well. The only thing I was waiting for was a phone call to say, "Okay, it's basic training time, let's go." For some reason, that call never came. 

I ended up going to school from nursing. When my children were one and a half and three and a half, I ended up going into nursing school. It was quite difficult to say the least as a single mom, single parent, and going through nursing school. Somehow we made it through though. With the help of family and relatives, we did get through that. But after a number of years, I had been really kind of wondering about doing mental health work. I did dabble in some training here and there with the mental health field, but it was kind of something that my brain was always wanting to lean towards. 

A few years ago, I started developing shortness of breath. I was down in weight compared to where I had been for a lot of my adult life, probably about 180 pounds, which is still overweight for a short person. I started getting symptoms when I was working as a nurse. Weight started coming on again. I thought, "Oh, must not be as active as I was before." I was getting a high blood pressure readings, and that had never been an issue before. So even with my cardiac history, I had still been fairly healthy. 

I had been trained to do palliative care nursing, so I was seeing a lot of palliative care patients. I got to the point where my troubles with my breathing became more of an issue, especially to the clients than they were… me coming in, trying to get up the stairs to see them, sitting down and taking a couple of minutes to catch my breath, at a point where I was starting to bring my oxygen in with me to do the stairs or to get from point A to point B to their rooms or anywhere to see them.

By this point, I had gotten quite bad. I finally decided I just can't do this anymore. I'm going into houses that are difficult to maneuver around, also into smoky houses that I always despise smoke, cigarette smoke, and having to take care of myself in front of patients before I could care for them. It was just getting to be way too much. The physical maneuvering of patients became very difficult and I just couldn't keep up anymore.

On top of these things. I also have scoliosis, and it's something that I was diagnosed with when I was 12. So between my back and the pain, between the weight gain and the shortness of breath, it just became very difficult to move people, to turn people to do any things that they needed to get down on the floor to do leg and feet dressings, if they happen to be sitting on a couch, for example.

Yeah, it just became too much. I tried to push further, but I just couldn't. Mentally, I was starting to deteriorate as well. I knew there was something wrong by this point, and I hadn't quite got the diagnosis yet of PH, but it did soon come after pushing and trying to get in to see a doctor.

I think I was diagnosed in June of 2019. I went off work July of 2019. Probably for the next year I was wearing oxygen pretty much 24/7. Sitting in a chair, so where I am now, just maneuvering myself around became quite difficult and caused me a lot of shortness of breath. It was to the point where, "All right, I don't think I can do this anymore." So I had to give that up, give that role up. I did not give up my nursing license, I still have it, but I am now on... What's the term? Non-practicing. So I'm a non-practicing registered nurse. 

I decided to hold onto that because it was a big part of me. It's a big part of my life. It was a great accomplishment for me to get through schooling and having two little ones at home as a single mom. It was something that was really hard to register in my brain that you can't do what you've been doing, but I'm hanging on to this because I knew still at that point, even though everything kind of took a dive down, including my mood and everything else, my look on life, my outlook and the uncertainty, it took a huge chunk out of my wellbeing.

I decided at some point, probably within that first year, "Well, okay, what can I do? I know that I have been thinking about changing careers. I've been thinking about giving up at least the physical part of nursing." There was something still calling me to the mental health world. Well, I started acrylic painting and I sang. I had sang for many years and I liked writing, and that's most of my life, as well. Not that I did a lot of it, but I did like it. And one of my goals since I was a teenager was to write a book, which I still haven't done, but I've started a couple of things.

I've written a few little things, poems. I have a long poem. Those kinds of things all mean a lot to me as who I am as a person. I decided at some point along the way, I'm going to somehow combine the creative things with the mental health and the background of nursing and help other people on their journeys and their wellbeing, as well. 

That became my focus. Not to say that every day is easy or that I can focus on these things every single day. There are still difficulties. I managed to change my viewpoint and my outlook on life and my perception of life, and I managed to change those things to a positive light and decided you can still live. You don't have to lay back and wait to die because what is the purpose of everything that I've done and everything I've wanted to be?

I always, always felt like I had a deeper purpose in life. Some people are good getting their purpose fulfilled through looking after their family or through working in a community, and that's enough. But there's something more that I'm meant to give. I'm still not 100% sure what it is, but I think I'm finally going down the path now. I decided to paint. There was a year, I think between 2019 and 2020 that I really didn't do much of anything, but I think that was my angry year. That was my diagnosis year. It was my spot that made me take a look at my life and decided to change my path. I could lay back and die. Life's over for me, boohoo. I know that's a lot of us. That's where we are. That's where we have been or we're getting to that point. But there is a point where you can take control of what you can. 

I had to look at my blessings. So I had to look at, I have my sons. At that time they were both home with me. I have one still home now. I have my mom, my dad, my sister. Even though I still had a lot of traumas to deal with, which I was currently working through and still am, those people were still close to me and important to me. I was now around my mom's family, side of the family. They were a huge support.

I felt like I couldn't quite leave this area and move away, because I thought about moving down east many times, but I had to use what I could. Also because of being from First Nation's community, I thought there's so much I can do. So I'm going to combine all the things I know and put them into a wellness journey for other people. I'm still not 100% sure what that's going to look like, but I have done many paint parties, you might call them. A lot of them are workshops. I get hired by organizations mostly for say, a personal paint party. Probably 95% of what I have done has been organizational workshops. I'll get people thinking about positive things, so what do they want for themselves that day or that week or month, or what would they like to wish for somebody else?

It could be someone they don't necessarily like so much. What do you wish for that person or yourself? Think of one word or a symbol. It could be a heart. It could be anything and you put that down on the backside of your canvas. You write happiness or love, unconditional love. Anything that you can think of or a heart or a star or anything and that's going to be your focus during that painting. The painting session, you go forward with that thought in your mind. We really try to keep negative thinking out of it because it's very, very easy for all of us to think negatively and go, "Oh, I'm terrible at this," and oh my goodness, there's always negative that we can throw to ourselves. We really try to take that out of the equation and just keep everything to a positive as much as we can. 

I would say that normally it does work and it helps most people to stay in a more positive mindset. Thinking positively, looking after my mental health that's been a huge, huge component of my wellbeing. Continuing to be in therapy because therapy can be for everyone, not just seriously ill people. It keeps us on track. That has helped me by looking after the mental health piece, my emotional piece, my spiritual piece, and my physical. We know that physical and mental health and emotional, spiritual all go together. We can't look after one and not the rest. We can't expect to do well in one and expect everything else to catch up. We've got to purposely look after all of those domains. I find by doing that and keeping myself in check with my mental health as well, even my spiritual health. By spiritual health, I mean even things like connecting to nature. Learning how to connect with nature. Learning how to breathe. Learning how to be calm and maybe put yourself in a better place. 

That becomes really easy to do once you've done it a bunch of times. You may need to focus and push yourself to do it at first, but eventually it's just an amazing place to be. So with meditating, learning how to focus, we can do so much for ourselves. People need to start looking at that, giving themselves that gift because it's there. It is in all of us to do. So by looking at all those domains and looking after each one, we do better for our physical health, as well. My physical being has improved. My breathing has improved. My energy level has improved. My focus is starting to improve a little more, because that's been very difficult to do.

But all in all, if you look after all of those things in your life, you become a better version of yourself. You start to see the world in a positive light again, and not think so much about how much life I have left. I still do think of that sometimes or, "When am I going to die," or, "What's the purpose? If I'm going to be gone in a year or 10 years or five years?" The purpose is because you need to be here now. You need to be here. You're on this earth. You have purpose. You can take from everything that happens to you in your life and pull it in and switch it around, bam, put it out as something that you can do for yourself and for other people. That was my choice. It's not to say that I don't ever struggle with my mood or with triggers or anything that comes up in my life, but I need to know how to come out of that.

With everything I've learned through somatic therapy, through there's a thing called FIT. It's focused intention technique. I learned how to do that, as well. There is training for that. It's something you can use on yourself, and it's something you can use to help other people. Give yourself the gift, I'll use that word again, the gift of life. You get to go forward in the way you want to, in the way that you can. Just do it in whatever way you're able to. If you look after all the pieces of yourself, it gets easier. I guess that would be the biggest thing is transforming my life to meet the needs of not just myself, but others as well. But there came a time where I had to look after just myself, and that was fine. I decided that's okay. This is what I need to do. 

My last job was helping to kill me. It was helping to dive me down lower in depth, because I wasn't able to focus on myself and my needs. That really woke me up. It made me go, "Yep, I guess I have to listen to myself now and listen to my body. It's telling me things and do something about it. Don't just keep pushing it back. Do something about it." I ended up having to move from where I was. My rent was going up a little higher every year. I could no longer afford to live there, because I wasn't working, at least not getting a nursing income. So my sons and I had to move. Thank goodness for our First Nation. They had been building a new set of townhouses and one had just been completed. We were lucky enough to get to move into that right at the time I was running out of money from whatever resources I could get it from.

We moved in here. The rent is significantly lower. I know not everybody has that opportunity, but it enabled me to start looking at what I wanted in life instead of worrying about the financial piece. So even if it's a matter of you have to move in with someone or a relative or something where you might not have as much, you might have to give up some things, which I did, but at least it got me thinking about my life again and having a purpose. So that's where I am now. 

My name is Dawn Clarke, and I'm aware that I'm rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com @phacanada 

Pulmonary hypertension patient, Dawn Clarke, a resident of the Mississaugas of the Credit First Nation in Southern Ontario. Despite her rare disease diagnosis, Dawn decided to focus on her mental health and explore her creative passions. She emphasizes the importance of looking after all aspects of one's well-being, including physical, mental, emotional, and spiritual health. She encourages others to find their purpose and make positive changes in their lives, even in the face of challenges. 

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com @phacanada 

New Jersey patient, Linda Wimmer, shares her experience with idiopathic pulmonary arterial hypertension. Linda discusses the various medications and lifestyle changes she has had to make to manage her condition. She also mentions dealing with depression and anxiety, as well as the challenges of accepting help from others. 

My name is Linda Wimmer, and I'm from Morris County, New Jersey. I was diagnosed with idiopathic pulmonary arterial hypertension in 2014.

I knew something was wrong years before. It took me about two and a half years, if not longer, to get diagnosed. I found out a lot of other things about my body, but not exactly what my diagnosis was. I found out I had sleep apnea. I found out I had another condition called syringomyelia, which is a cyst in my spine. I found out, too, that I had papilledema, which is increased intracranial pressure in my head. I found out other things, and all these things that were happening, I'm like, oh, that's the cause of my shortness of breath, and it wasn't.

I started with shortness of breath, feeling very, very fatigued. I had chest pressure, swollen legs, pitting edema. I used to exercise a lot, and I felt like the more I was exercising, the less I could do, whereas prior, I could exercise a lot and then do more. Then simple things just became difficult, like climbing the stairs I was out of breath. I would be talking to people, and they'd be like, why are you still out of breath? I'm like, I'm out of breath? I didn't even realize it.

I had worked in healthcare, so I was aware of certain things that were going on, and I had researched a lot of things myself. I was narrowing down my diagnosis on my own, too. I became very, very frustrated, because I felt when I went to the doctor, sometimes, they weren't really listening to me or I didn't feel believed what was going on.

Even after, it was actually on a Christmas Day, I was feeling horrible. The night before, which was Christmas Eve, I was up late trying to get everything ready for Christmas, trying to do everything. My whole family was over. I was trying so hard just to survive. I couldn't breathe. I didn't want to eat. I was so filled with fluid. I couldn't urinate. I couldn't do anything. I just was like, I just have to make it through today. I just have to make it through today. Well, I was getting up to actually go to the living room to open up presents with my family, and I just collapsed and fell on the floor.

I was rushed to the hospital, and the doctor came up to me and said, "Did you ever hear of heart failure?" I'm like, "Yeah, of course I heard of heart failure." Even after that diagnosis, it didn't happen that I found out I had pulmonary hypertension. It wasn't actually at that date, until almost a year later, that I was diagnosed.

I came home from the hospital on oxygen. I had stairs in my house. They told me to put in a chairlift, because stairs were totally my nemesis. From there, I saw a specialist, and it took me a while to get an appointment, probably about three months from the time that I was home from the hospital with oxygen that the specialist did tests and did other things before I started on my first oral meds. Then shortly after that, I was put on another oral med, so two oral meds, and then an inhaler with supplemental oxygen.

I have had a history of depression, but when I hit this diagnosis and what was happening, the depression really didn't come out. It's funny. I always say there's nothing that kicks you out of a depression and feeling like you want to die than the reality that you might die, and that's basically what happened. But then, anxiety kicked in because I wanted to live and I was scared.

One of the problems that I had with pulmonary hypertension is I would have a lot of chest pain. I felt for a while that kind of went untreated. I tried different medicines. I guess they had to find the right cocktails for me in so many ways, but I really felt one of the things that really helped me was I was put on a med just for chronic angina, and that did help a lot, because I was getting such chest pains.

I had to make a lot of different lifestyle changes. I was a very active person prior. I had my own house. I used to rip out my own carpeting, refinish my own furniture, and bring in piles of mulch and do outside stuff. Now just vacuuming the house, I was out of breath. It was hard. How I cope now with it is that I do little things at a time. The thing that is probably the most difficult is I have little patience sometimes with myself. It's like I want to get something done and that's not going to happen as soon as I would like it to happen. I have had to sit down and learn from it and have more patience. I have a lot of patience with people and animals and things like that, but I don't always have patience with myself.

Another thing in my life prior, I was a caregiver, so I'm not really happy or comfortable having people take care of me. I feel sometimes a burden, and that really kind of weighs on me. I don't want to be a burden. I want to be totally independent. I'm very lucky I have a family that is supportive, but then again, they do also have their own lives, and I want to make sure that I don't put too much stress on them. I have very good friends that are supportive, but no one really understands what is going on, I think, as much as another person that has a chronic disease or kind of a similar disease.

One of the things that I found most helpful was the support group. Then early on, I went to a conference, and that was just the best thing ever to meet so many people. They might be far away because the conference is for everybody, wherever, regardless of where they live, and you go and you meet people and you talk to them, and everyone has their own story. But you could also stay in contact with them through Facebook or other ways or texting or whatever. It feels like a big, huge, warm hug. You understand the daily stresses that they have, because you're feeling them, too.

Other things that I had to do in my life that have changed, too, is, of course, the diet of no salt and trying to eat healthier. I really have to admit I could be a better patient. I feel bad sometimes when I go to the doctor. I hate to even let him down sometimes because sometimes I feel like I'm letting myself down. For some reason, I feel worse that I'm letting the doctor down than I even do about myself, which is so messed up, but it's the truth. I don't always put myself first in that way. I'm working on that and working on being a better patient and taking better care of myself and trying to do the things that I know are right. It's just a daily struggle.

Sometimes I eat out of frustration, which is really bad. I stress eat. Whereas before, maybe I would go to the gym, I definitely don't get out as much as I used to to do things. So I feel sometimes the most stuck in that way. That has to do with just feeling fatigued or feeling not so great sometimes.

If anyone has any feelings about whatever is going on with their body and they know something is not right, regardless of what it is, if it's something with breathing or something with their heart or something that they continually go and go and go and go until they find the answer. It's so important, especially with pulmonary hypertension, to get diagnosed because it's a progressive disease. The sooner you start treatment, the slower, hopefully, the progression will be. It will also help you feel better.

But it's so important, because there were times in the beginning I just wanted to give up. Actually, at one point, I said to my family, "If I should die, just make sure you send me and get a really good autopsy," because that's how I felt, like I was going to die and I was not going to know what was going on, but I knew something was so wrong.

For newly diagnosed patients, the best thing I think you could do is join a support group or just even find one other person that has PH or ask your doctor if they could set you up. Definitely get involved in something, because most of the stuff that I have learned or that I really needed to know about has not been from my doctor. It's been from other people who say, "Oh, this is what you have to do," or "this is what you need to do." I cannot tell you how much other patients have brought to the table who talked about their story and talked about their symptoms that you really get to know.

As of right now, I'm doing okay. I'm taking it day by day. I take it day by day. I don't judge it by week to week. I judge it day by day. I wake up every day, and I'm thankful. The more I'm thankful for, the better the day. Sometimes the thing that I'm thankful for is I take a shower and the temperature is right, and I'm like, thank you. That was really good. Or I look outside and the sun is shining my face, thank you. Or you put on a cozy sweater and just like, oh, this is thankful. Or someone calls you and you're like, oh, that was so good.

It's not the big things anymore. I used to always say, "Oh, it's the trip to Florida. It's the trip to Europe. It's this, this, and that." Now it's like the little things I'm so thankful for. Just the little things in life have become so much more important to me. That's what I've learned about myself.

My name is Linda Wimmer, and I am aware that I'm rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com

New Jersey patient, Linda Wimmer, shares her experience with idiopathic pulmonary arterial hypertension. Linda discusses the various medications and lifestyle changes she has had to make to manage her condition. She also mentions dealing with depression and anxiety, as well as the challenges of accepting help from others. 

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com

Drs. Patricia George and Harrison "Hap" Farber from Team PHenomenal Hope discuss takeaways and learning from PHenomenal Hope 2023. This symposium offered a combination of oral presentations, expert panel discussions, and poster sessions in an environment that encourages collaboration and a deeper exploration of patient-centered research. 

They also discuss Team PH's 2024 Research Award program, looking for topics that will help expand access to care and improve clinical status by looking specifically for projects in the topic areas outlined at the PHenomenal Hope 2023 research meeting. 

Steve Van Wormer:
Hey everyone, Steve Wormer from phaware global association. I'm here with Dr. “Hap” Farber and Dr. Patty George from Team PHenomenal Hope. We wanted to have a conversation here about an event that they held recently called PHenomenal Hope 2023, which was a medical conference focused on knowledge, research and advocacy in pulmonary hypertension that was held in Boston. I thought they could share some of the takeaways and learnings they had from this medical conference. So thank you both doctors for joining.

Patricia George, MD:
Thanks for having us.

Harrison "Hap" Farber, MD:
Thanks for having us, yeah.

Steve Van Wormer:
So, this was a great event and there was a lot of turnout. Tell us a little bit about just people that might not know what that event was focused on and some of the topics and what were your takeaways?

Patricia George, MD:
Well, it was our first medical symposium. As you know, Team PHenomenal Hope started in 2012, so over 10 years ago, and never did I ever imagine that we would have a medical symposium. I'm so proud of what we achieved specifically with Hap taking leadership and having this long-term vision. He can tell you about it, but this didn't just come up on a whim. He's had this vision of having this conference for a while. He and a team of people really pushed this.

It was special because the point of this conference was to talk about really important topics that we all know are important in the field, but they don't always get the attention and airtime so to speak, that they deserve. So this was a great forum and people were so engaged. The topic areas included things like diversity and inclusion and registries and in clinical trials. We led off with that with amazing talks in the morning and at noon, by Hap's former fellow, we talked about: unmet needs in patients with pulmonary hypertension, substance abuse and PAH, what is a PAH disease modifying agent, patient engagement strategies in clinical trial design and improving data quality. These were the key topics and there were people there literally from all over the country, but also guests from Europe, as well.

Harrison "Hap" Farber, MD:
I think the thing that's important to point out about the topics are they were topics that aren't usually discussed at any kind of medical or PH symposium, which are usually strictly state-of-the-art research, stuff like that, molecules. This was stuff that really was sort of directed towards gaps and needs that we have in patient care, which made it unique to start with. I think people really got into this idea that it was very different than other symposia.

Plus, we were good in that we had speakers who really were good and engaging and the audience was engaged. We had a panel discussion after each section that got really sort of heated and engaged. I think to me, aside from the fact that we're talking about things that we don't really talk about, was the fact that, to be honest, my worst nightmare was the fact that nobody was going to show up. But to my surprise, the place was full. We had an amazing turnout.

Steve Van Wormer:
For people that might not know, I believe it was it a year ago, less than a year ago, you took over the reins, as Patty said, of Team PHenomenal Hope, and then you come out of the gate with this end of year program. She said you've cooked this up for a long time. So that's been something that you'd wanted to get to with Team PH or just in general?

Harrison "Hap" Farber, MD:
Patty and I, usually in February, I have a house in Crested Butte. We go to Crested Butte and we strategize. We've been discussing this for I don't know how long, and Patty kept saying it'll never happen. I kept saying it's going to happen, and it did.

Patricia George, MD:
I want to also say one of the other things about these topics and how we emphasize they're important topics that aren't often discussed, especially altogether in a forum, it really mirrors what we do on Team PHenomenal Hope. Like everything with our organization, we never tried to mirror what's already being done in the field. We have several nonprofits in the space. We have phaware, PHA, Team PHenomenal Hope, but we've never tried to beat what another organization does.

We try to always find gaps and places where we can help people living with PH. What can we do differently? How can we add to the field? So, I think that this was a great expression of that through this medical symposium and quite complimentary to the day before the TUFTS Pulmonary Hypertension update. I had a phenomenal two days.

Steve Van Wormer:
I think it was great in the sense that I personally have went to a number of medical or medical slash patient forums. Like you say, just on a lot of these topics were ones that I just haven't seen as an audience member. Some of these speakers after they gave some really engaging and interesting things that we've never really explored, we asked a number of these people to record some of these sessions for future podcasts to keep this information, to get it out to patients as well, which is great. So let me ask you this. Is this something that now that you have one under your belts, is this something that would be hopefully a longer term focus to do? I won't say necessarily yearly but what's the kind of future hope for this?

Harrison "Hap" Farber, MD:
Based on the feedback that we got from the first one and from the reception we got in the PH community, to be honest, I'm already working on next year. The problem I think is for good or bad, the first one was so good. We set the bar at a level hopefully we can attain again. I'm being totally honest here. I did not expect the bar to be that high, but it is now. So now there's this expectation if we do it again, we've got to be at least as good.

Steve Van Wormer:
How did you come up with some of these topics? Are these just things that when dealing with patients or other peer doctors that you talk about and you're like, "Hey, why don't we peel the onion back on this?" I'm just wondering how some of these things came to be.

Harrison "Hap" Farber, MD:
Some of them came up because to be honest, Patty and I and two of our fellows wrote a paper about the lack of ethnic and minority inclusion in pulmonary hypertension trials and in registries. So that was one obvious topic. Another, because of the emergence of newer drugs, is what are we really doing? Are we modifying the disease, which is I think just basically a marketing ploy, but anyway, how do we get people engaged in clinical trials? Nobody's ever talked about that because trials have to be representative because remember, the results you get, you apply to everybody, whether the trial is representative or not.

Then, the other ones just sort of fell into place. We were lucky in that in areas in which there were no data, which was pretty much almost anything we talked about, the sponsors were good enough to put together these Delphi committees, so that even if there were no data, you could sort of get an opinion as to what might or might not be important. Then you could argue about them. It was great.

Steve Van Wormer:
These are all unique in standalone topics, but they all also kind of go together like an erector set, because if you're talking about trials and then you're like well, who's in these trials? Then we need a diversity of patients, and then how are we engaging those patients? I thought it was a very interesting step-by-step kind of process.

Harrison "Hap" Farber, MD:
No, I agree. I think as you said, they were separate, but they were linked.

Patricia George, MD:
One of the things that I found that I thought was really fun, and I guess this goes to feedback, but just the vibe of the conference to me, the symposium, to me, felt a little different than your typical medical conference. What's really unique about the PH community, we're all friends at this point. So luckily you get to see your friends and get together and hey, how you doing? Everybody just really nice people.

But what's really cool is when they came together in this meeting, you just kind of felt a passion from people for really wanting to make a difference. Not that you don't feel that at other meetings, but I don't know. It was just really engaging in a way. When there were these discussions and someone would present a topic, then there's a panel and then there's audience members, you just got this feeling people just wanted to contribute or say something. It seemed like these topics really resonated with people. It was just really satisfying. I felt like I was a part of something and not just attending something.

Harrison "Hap" Farber, MD:
You almost had the feeling at times that, to expand on what Patty just said, is that people had sort of bottled up these ideas and questions for so long that they just couldn't wait to get them out, which I thought was pretty cool.

Patricia George, MD:
One of the things that I've been talking about with Ann, our lead nurse coordinator from here at National Jewish who went with me to the conference is what we found was, wow, the things that we struggle with in terms of delivering care to patients or patients who might struggle to get to appointments, just the issues that we see, copays, all the stuff that we struggle with in terms of providing adequate support for patients, whether it's financial, whether it's helping them through critical care. These are common themes that everybody's dealing with, that everybody has to face in their clinics. So when you get people together and actually can discuss it in this forum, I think it's helpful because you end up talking to the person next to you and say, “How do you guys do this? And what about this and how do you approach that?” I think that was really cool.

Harrison "Hap" Farber, MD:
In most of these topics that we had, there really is not good data or even any data at all. So everybody's sort of giving their opinion of how they do it. Then some people are shaking their heads going, "Yeah, that's how I do it." And other people would go, "No, that's not right." So it was good in that it really does create a tremendous amount of discussion, because you can't say to somebody, "Well, the data says do it this way."

Steve Van Wormer:
To that point, when you do future conferences like this, symposiums like this, do you think that you will keep these main topics, we'll call it, because there's not data to keep going further and exploring and building up that data, or find new areas that are still unmet and needed in this PH puzzle?

Harrison "Hap" Farber, MD:
Both.

Patricia George, MD:
Two of the cool things that came from this conference... Number one, these topic areas are actually the topic areas that we're asking people who are interested in submitting a letter of intent for our research award to submit. We have a PHenomenal Hope Research Award, phenomenalimpactresearchfund.org. Every year we award a $50,000 research award. LOI submission is going to be due Friday, March 8th, and it is in these topics that came from this conference.

We're putting our money where our heart is here and we now want to fund these important topics. So if anybody has something related to those topics, those are what we're really looking for in this year's research award. The way the process goes is people submit LOIs, it's pretty simple, by Friday, March 8th, and then those are reviewed and the finalists will be notified about two weeks later, and then about a month after that, the full grant application is due.

Then the award winner will be announced probably in May. It's a $50,000, no indirects from Team PHenomenal from our fund, but it's also the things about this research award that's special is it's international, so it's not just for the US, people can apply. We've had people apply and win from abroad, and it also is not just for doctors or PhDs, but nurses, nurse practitioners, respiratory therapists. If you have a good idea, you can put that idea in.

Harrison "Hap" Farber, MD:
Well, actually, the woman from Brazil who won one time was a lawyer, an incredible idea, just amazing. Because she had had a family member with pulmonary hypertension, she got totally into this.

Steve Van Wormer:
There you have it. We will see deeper dives into these topics and get more data and for patients and the betterment of the whole disease state. Patty, Hap, thank you so much for putting this on, for what you do every day for patients in the community, and we look forward to the next one.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com #phawareMD 

In this episode, Drs. Patricia George and Harrison "Hap" Farber from Team PHenomenal Hope discuss takeaways and learning from PHenomenal Hope 2023. This symposium offered a combination of oral presentations, expert panel discussions, and poster sessions in an environment that encourages collaboration and a deeper exploration of patient-centered research. 

They also discuss Team PH's 2024 Research Award program, looking for topics that will help expand access to care and improve clinical status by looking specifically for projects in the topic areas outlined at the PHenomenal Hope 2023 research meeting. 

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com #phawareMD 

Lia Barros, a nurse practitioner at the University of Washington, discusses the role of nurse practitioners in caring for patients with pulmonary hypertension. She emphasizes the importance of nurse practitioners in meeting the unique needs of patients with pulmonary hypertension and suggests that adopting collaborative care models can improve patient outcomes.

My name is Lia Barros and I'm a nurse practitioner at the University of Washington in the Pulmonary Vascular Disease Program. I wanted to talk to you today about the role of nurse practitioners in caring for patients who are living with pulmonary hypertension. 

I think first we can start with what is the history of nurse practitioners?

The first school started in 1965, and it was really to address the shortage of providers for pediatric care. I think we can see that over the several decades since then, the role of nurse practitioners has really grown and is flourishing. Now, you can see nurse practitioners working in the primary care setting, in specialty clinics like pulmonary vascular disease, inside hospitals as acute care providers. So that's anything from the intensive care unit to the general floor. They have a wide variety of practice, and therefore there's a wide variety of models on how to utilize nurse practitioners and their skillsets.

I always like to take a minute and also talk about what is the background of a nurse practitioner? I think that's one of the most common questions I get, even from other healthcare providers, is what is the unique role of a nurse practitioner, or what is the difference between nurse practitioners and physicians or physician assistants?

A nurse practitioner is an individual who had to obtain a bachelor's degree and become a registered nurse. Many of us have practiced as registered nurses across a variety of spaces before deciding to go for advanced education. Then in order to become a nurse practitioner, you have to obtain, there's two ways, either a master's in science in nursing or a doctorate of nursing practice. Then, once you obtain that education, of course you sit for a national license.

Some people then say, "Well, how come my nurse practitioner in one area or another seems to practice differently?"

I think that's an important thing that we talk about, because we have a full extent of our license, but that license is then regulated state by state. I'm so blessed in the state of Washington, we allow nurse practitioners to practice to the full extent of their license. We receive training and diagnosis treatment, health prevention, advanced communication, and advanced patient education. I'm really allowed to utilize all of that in my practice.

You'll see state by state that that varies. I'll speak to in the WWAMI region and in the state of Washington, because that is what I know. Nurse practitioners in this space are independent, licensed providers. So in the state of Washington, I'm allowed to practice on my own. That becomes really important when we think about the practice model. I do want to take some time to talk about that as well or share with you about that.

When we think about nurse practitioners in the role of caring for patients with pulmonary hypertension, we really don't have a consensus. So when you look across the nation, there's really no consensus or agreement on how to utilize this expert for best patient outcomes. What we do know comes from literature looking at nurse practitioners in the primary care setting, as well as there's some literature out there looking at nurse practitioners in cardiology. What we found is that nurse practitioners are competent, specially trained clinicians who are accessible with a hyperfocus on holistic communication and holistic treatment plans for the whole patient. When you look at patient outcomes for nurse practitioners compared to their colleagues, these outcomes show that the care is equitable or comparable. And in some areas, outcomes for patients that work with nurse practitioners is better.

I think it's really important that we fight against this notion that nurse practitioners are somehow a mid-level provider or a sub-performing provider, because it's not what the literature is saying. I don't think that's what patients are experiencing.

I'd say the last thing that we really understand is that in order for this multidisciplinary collaboration model to work, it has to require that the team members share common goals and values for their patients. I think this is huge, in that they share mutual respect for one another and of course, and then that they have excellent communication. So when we put that together, we find that nurse practitioners can be successful in a variety of areas, can perform the same or achieve the same patient outcomes if not better when they're empowered to practice to the full extent of their license in mutually respective environments.

Because there's no consensus in the PH community, I'll just take a moment to speak to my personal experience as being the first nurse practitioner in the pulmonary vascular disease program at the University of Washington and the first nurse practitioner in our pulmonary med specialties in general.

In our clinic, we utilize a collaborative practice model with a focus on high acuity patients. Well, what does that mean? That means that I am empowered to practice to the full extent of my license. I carry my own personal set of patients. And because of my time and accessibility, I focus on supporting the sickest patients across our entire clinic. Patients with pulmonary vascular disease, whether that's CTEPH, whether they're living with PAH, they have what we know is progressive serious lung and heart disease.

Because of the nature of this disease and its impacts on the patient's hemodynamics and their overall day-to-day life, most of our patients are out living in the world with severe heart and lung disease. They struggle with things like volume management, lifestyle modifications, limiting their salt, limiting their fluids, weighing themselves, taking these complex medications, titrating on medications with serious side effects, all of which really require intense available support from their providers. So what we have found in our clinic is that our patients are doing better when we have somebody who is competent and able to respond to those urgent needs.

We really are finding that my role has allowed our whole team to provide more preventative care, to intervene earlier, helping avoid hospitalizations and really improving outcomes for our patients across the board. I think that when we are asking ourselves, how can we best utilize these different experts in medicine, in healthcare, the answer is that we need to create solutions that allows each person to bring their expertise and to meet the needs of our patients.

In our clinic, this is the model where we have found success. So again, it's my ability to get to have the time to really meet the unique needs of patients who are living with pulmonary hypertension. I would probably argue that all of our patients, even the ones that aren't struggling with critical illness in the moment, would probably benefit from working with their nurse practitioner in their clinic, because probably all of our patients with pulmonary hypertension warrant very intensive care in their day-to-day.

Another way we use this model is in addition to carrying my own patient cohort and covering the high needs of the patients across the clinic, I also have capacity to consult on the inpatient side. That means that when our patients are admitted to our hospital or to some of our smaller hospitals in our neighboring states, I'm able to engage or fill the role as a consultant. At the University of Washington, we really cover what we call the WWAMI region. That means we cover patients that are in Washington, Wyoming, Alaska, Idaho, and Montana, which you can imagine is quite a large range. We work a lot with small community hospitals, local providers. Considering how rare PAH is, there is a lot of need to support our colleagues in caring safely for our patients.

So by having this care model where I have the ability to work with our high need patients, that also gives me the ability to work with local providers to support them in caring for patients with pulmonary arterial hypertension in a unique way we were not able to do as well before. I also consult for our patients when they're in the hospital, helping guide their pulmonary vascular disease care, as well as helping when they find themselves in an emergency room in their town or on their way to us.

I don't come from a background of healthcare providers. My mom got diagnosed with metastatic cancer when I was about 18. My first exposure to healthcare providers was watching those that cared for her through the end of her life. I would see my mom have these difficult days, and the people that were there to comfort her and support her were nurses. I remember sitting in this infusion room with her and she was crying. It was a difficult space. You could see patients of all points of their disease. I think for her, she could see the trajectory of where she was heading. I was only 20 maybe at the time and didn't know how to comfort her. I saw this nurse swoop in and hold her and say, these simple yet profound things that completely calmed my mother, gave her peace. I just thought to myself, "Oh my God, I want to do that for people."

The next day I enrolled in my nursing program and then was more exposed to the different types of nursing. I've always enjoyed academics. I've always enjoyed the challenge of education and learning, and I really felt that critical care did two things for me. Working with critically ill patients gave me the satisfaction of challenging me intellectually. At the same time, it allowed me to support families and patients through death and dying. I think one of the things in losing my mom at a young age is that it has made me so aware of the presence that a provider can have and the lasting impact that they can make in trying to help hold that grief and move you through that grief. One of the things that attracted me to the ICU was that I got to do both those things. I got to have these deep connected conversations with strangers on some of their most difficult days. Simultaneously, I was learning and growing and constantly challenged by the new thing that I was facing in front of me.

I practiced as a critical care nurse for about 13 years before I became a nurse practitioner. I intersected with patients living with pulmonary hypertension once they had hit the ICU or critical illness. I always found these patients to be young, resilient and really remarkable people living out their lives struggling with a very serious illness. I think I was first drawn to pulmonary vascular disease, because I was drawn to the patients. I was drawn to that therapeutic relationship and caring for patients in the ICU. I think it was a natural then progression that when I became a nurse practitioner, that I was attracted to working in pulmonary vascular disease field because it is a complex disease. It challenges me to understand physiology which I'm interested in. Patients are critically ill and yet out living their lives in our community, meaning that I felt that the nurse practitioner role could really support patients to stay out of the hospital living their lives.

I think it felt like a natural progression from the intensive care unit to a place where I wanted to grow my own practice, caring for critically ill patients that are living out in the community that have very complex physiology that challenge me both intellectually as well as emotionally caring for such a really remarkable group of people.

I think just overall, what are the two things I really hope to communicate is I think that nurse practitioners are specially trained, accessible, and competent clinicians. When we operate in these collaborative care models with mutual respect and supported to practice at the full extent of our license, patients do better.

I also think that patients living with pulmonary hypertension have unique needs that nurse practitioners can meet, because of that competence and accessibility. I think that programs across the country would see an improvement for their patients if they adopted this collaborative model and really supported and celebrated the role of nurse practitioners in the care of patients with pulmonary hypertension.

My name is Lia Barros, and I'm aware that I'm rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com @uwepidemiology 

Lia Barros, a nurse practitioner at the University of Washington, discusses the role of nurse practitioners in caring for patients with pulmonary hypertension. She emphasizes the importance of nurse practitioners in meeting the unique needs of patients with pulmonary hypertension and suggests that adopting collaborative care models can improve patient outcomes.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com @uwepidemiology 

Dr. Sam Rayner is an assistant professor and pulmonary hypertension specialist at the University of Washington. In this episode, he discusses the different ways physicians can get involved in pulmonary hypertension research. He explains that he is a physician scientist, dividing his time between patient care and scientific research focused on PH. 

My name's Sam Rayner. I'm an assistant professor and pulmonary hypertension specialist at the University of Washington. I'm a physician scientist, which means I divide my time between the clinical care of patients with pulmonary vascular disorders, like pulmonary hypertension, and scientific research focused on pulmonary hypertension. 

I wanted to talk to you today a little bit about the different ways that physicians get involved in pulmonary hypertension research, including the kind of research I do, and delve into what it is like, at least for me, balancing research and PAH patient care, and discuss the importance of having physicians involved in research into complex diseases like pulmonary hypertension.

Physicians are often classified as either being pure clinicians, whose main job is to use their medical knowledge to improve health and help patients, or as being physician scientists who spend a significant amount of time doing scientific research in addition to seeing patients. Of course, this is a simplification and people have many unique careers existing all across the spectrum. But especially in a university setting, careers are often structured based on these categories.

In my case, I've known since before medical school that I wanted to be a physician scientist. I worked in a lab before and throughout medical school at the University of Minnesota under a researcher named Dr. Nobuaki Kikyo, who had both an MD and a PhD. I was fascinated by how much he knew about human health and disease and how he would focus his research to address questions with real implications for human health. When it came to my fellowship training, which is the period of training after residency where I specialized in pulmonary and critical care medicine, I became fascinated by pulmonary hypertension and I knew that this is what I wanted to study.

I felt that in some aspects, PAH was a basic science success story. Here we have a rare disease, which in many ways is very difficult to study in the lab. Yet over three decades we've seen more than 10 therapies FDA approved for PAH via multiple routes of administration with more in the pipeline. We've developed understanding of which groups of patients these medicines work for and which they don't. Most importantly, we're now seeing patients live longer and with a better quality of life. Yet, PAH remains a terrible disease and there is so much more work to do to really understand it and find true cures for the disease, which means there really is a need for people doing research in this space.

I found all this very compelling and I set out to think of exactly how I could study PAH as a researcher in addition to a clinician. Again, an oversimplification, but when thinking of different categories of research that one can engage with, we often think of a spectrum of research spanning from laboratory science, or what we call bench research or some people might call basic science where work's done in a laboratory with cells or animal models, all the way through clinical research on the other end where the focus is entirely on human subjects or clinical data. In the middle of these two sits what's often called translational research, which spans the gap from basic to clinical research and where I've sort of found myself.

When I was learning about pulmonary hypertension and trying to choose a research direction, it was quickly evident that a lot of the prior work in the field had been done using animal models. A lot of important discoveries have been made this way, leading to the therapies that we now have. Yet the animal models that we have don't perfectly represent human PAH, and there have recently been numerous treatments which have shown tremendous promise in these models and yet failed when tested in humans. There also are humane reasons to minimize our dependence on animal models whenever possible in research. For all these reasons, I wanted to try to find a way to build new models using human samples to study PAH in the lab and find new ways to analyze samples that we do obtain from patients.

I was very fortunate at this time to find Dr. Ying Zheng at the University of Washington as a research mentor. She's a bioengineering faculty here and a pioneer in developing engineered models of human blood vessels. The idea is that we can use a variety of micromanufacturing techniques to create patterned tubes in materials like collagen that have the geometry of human blood vessels which we can line with cells, grow in the lab, and create living replicas of human blood vessels. These engineered vessels can then be used to study human diseases or test pharmaceutical compounds. Our work has involved developing new ways to create more sophisticated blood vessel models. I'm now working to develop models specifically of the pulmonary or lung blood vessels that we can use to study PAH. I'm using models that we've already developed to study how human cells from patients with or without PAH behave under environments that mimic what we see in the body in pulmonary hypertension.

One of the exciting things is that it is becoming cheaper and cheaper to do some of these complicated studies on human samples. So things like sequencing all of the RNA or all of the DNA or examining nearly all of the proteins within human cells or human blood or human tissue, that's now something that is accessible to most labs doing research in a way that it wasn't five or 10 years ago. So as the technology advances and becomes more readily available, I think there's more and more work that we can do in human samples. Similarly, the bioengineered models, or what some people might call “organ on a chip” studies, are continuing to advance, become more sophisticated. The hope is that eventually these will become more mainstream and available and things that you just order from a manufacturer and are ready to go and become more and more affordable.

I think we're still in an era where there's a lot of bespoke models where each lab has their own bioengineered model and less of centralized models that everybody's using, although some are becoming more commercially available. But I think we still have some ways to go until we have truly plug and play models that approach the complexity that we see inside of the human body.

It's hard to know what the future might hold. I think we're definitely going to see as these preclinical models using human tissue get better and better, we're going to see new discoveries happen because we're using human tissue instead of animal tissue. I think we're going to see the number of animal studies that we need to do come way down as we can do some of the initial studies using human tissue. Whether we can truly replace in-human studies, it's hard to know. I hope we get there someday. I think we're a ways from that yet just given the complexity of the body and how hard it is to fully match that in the laboratory setting.

At the same time as doing this more basic science research, I've been fortunate to be involved in more clinically-focused research with another mentor and colleague, the director of our pulmonary neovascular disease program, Dr. Peter Leary. We've been doing things like analyzing circulating markers in the blood of patients with PAH and trying to understand how pulmonary hypertension differs across the different causes of PAH. For example, how do patients with idiopathic PAH differ from those who have PAH from lupus or liver disease or methamphetamine use? I'm hoping to combine these two avenues of research moving forward, incorporating human samples into new engineer models.

Doing this kind of research as a physician requires quite a lot of balance, and my day-to-day activities vary quite a lot. Some days, I may be fully in the clinic or hospital. Other days, research demands most of my attention. And some days I may start my day in the hospital and end it in the laboratory. Having specialized in a severe illness like pulmonary hypertension, however, one of my priorities is that I remain available to my patients and colleagues whenever clinical issues might come up. This can be challenging from a day-to-day aspect as it can mean getting pulled away from research experiments or research meetings for clinical issues, often many times a day. This can sometimes be stressful, but actually, sometimes, especially if experiments aren't going well, it can actually be rewarding to be pulled away and be able to be helpful to a patient or another physician and recenter myself.  I honestly enjoy the variety and the opportunity to do something different every day and throughout my day.

Even though a physician scientist's time is divided like this, I really think that researching a disease gives a practicing physician a unique perspective and a unique understanding of a disease like PAH that can help them be a more thoughtful physician. I think the reverse is true as well, that our patients and our clinical care can inform the questions we ask while doing research, and help make sure that the research we do is focused on improving human health. It's not easy balancing these two worlds, especially when considering that physicians may be involved in numerous other activities including education, administration, conferences, et cetera. This is one reason that we're unfortunately seeing less and less physicians doing laboratory science. We are starting to become rare. I worry about this, as I think that physician scientists play a vital role in the research of diseases like PAH. With a disease that's this complex and multifaceted, a practicing physician who knows the disease clinically is going to understand it in a way that a researcher might not who doesn't see patients in clinic.

The flip side of this is that the peer researcher may have cutting edge scientific skills and knowledge to offer beyond what somebody who splits their time to include clinical care might be able to maintain. But a nice facet of modern research is that it's more and more being done by teams of researchers instead of single researchers, and each member of the team can bring in specific skill sets. I really believe that continuing to have physician scientists as leaders and members of those teams is critically important.

I think it really does make a huge difference to be able to put patient names and patient faces to a disease when you're conducting research. I think it makes the research real. It helps you know what questions to ask and why asking those questions is important. It really keeps the research experiments that you conduct focused on helping real people. So I think it helps in a multitude of ways to have that dual perspective. This is an exciting time for pulmonary hypertension research and I'm honored to be able to be involved.

My name is Sam Rayner, and I'm aware that my patients are rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com #phawareMD @uwepidemiology 

Dr. Sam Rayner is an assistant professor and pulmonary hypertension specialist at the University of Washington. In this episode, he discusses the different ways physicians can get involved in pulmonary hypertension research. He explains that he is a physician scientist, dividing his time between patient care and scientific research focused on PH. 

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com #phawareMD @uwepidemiology 

Harm Bogaard, MD, Ph.D., FAHA is a pulmonologist at the Amsterdam UMC. In this episode, he discusses the role of genetic testing in the treatment of patients with pulmonary hypertension at its role in clinical research.

My name is Harm Bogaard. I'm a pulmonologist here in Amsterdam in the Netherlands. I work at the National Expert Center for pulmonary hypertension patients. We have a clinic, obviously, with patients mainly with idiopathic and hereditary PAH. We also have a chronic thromboembolic pulmonary hypertension (CTEPH) program with diagnostics, surgeries, balloon pulmonary angioplasty. In addition to my clinical work, we have a translational lab to find out more about different forms of pulmonary hypertension and its treatment.

Today, I would like to talk about genetic testing that we do in our patients. I think we do it a little bit more frequently than it's done in the United States. I think it's an interesting topic for a number of reasons. I think it can help in clinical care of our patients. It can help in making decisions in life about things like having a family, thinking about the chances of your kids, if you already have kids, that they might develop pulmonary hypertension. But I also think that there are important research opportunities by doing more genetic testing and looking more at the genetics of pulmonary hypertension. 
There's a new treatment coming up. You may have heard of it, Sotatercept. It's really quite a promising development for the treatment of pulmonary hypertension. The reason why we found this drug, why research has been done into this drug, is basically because over the past 20 years, we've started to learn more about the genetics of pulmonary hypertension. So also from that perspective, I think it's really useful to pay some attention to the genetics of pulmonary hypertension. 

In patients that we diagnose with pulmonary arterial hypertension when there's no known association, so there's no connective tissue disease or there's no congenital heart disease, there's no obvious cause for their pulmonary arterial hypertension, we always offer genetic testing. It's of course not mandatory. Before we do genetic testing, we refer our patients to a clinical geneticists to discuss all the pros and cons of genetic testing, but at least we offer it to all of our patients that could be idiopathic, because there's no known cause. But if you do the genetic testing and you find the cause, it's no longer idiopathic, but it's hereditary PH. I think that the guidelines indicate that you can offer this or that you can suggest this. This is not a mandatory thing. It's not proven that doing genetic testing will improve outcomes of patients, but still, for a number of reasons, we think it's useful to offer genetic testing or at least genetic counseling to our patients. 

I have to say in the Dutch situation, I think the majority of patients when they are offered genetic testing and after they've talked to the clinical geneticists, they do opt for genetic testing. Then on average, maybe one in five, one in six of our patients will show to have a genetic mutation that can be considered the cause of their disease. Of course, there are mental considerations or psychological considerations. Also, a lot of people worry about the legal consequences of genetic testing. 

To start with, the psychological aspects. I think a lot of patients who do their research, sooner or later they will stumble upon this issue that the disease might be genetic. This always kind of hangs out there and people are thinking about this and genetic testing in most instances, it will clear the skies because if no genetic mutation is found, of course, then there's no longer any worry that your children or your siblings might develop the disease. 

If you do find the mutation, it can also be helpful because this can increase the alertness, so being alert with your children, for example, if they do develop symptoms, you can be a little bit quicker maybe with finding some medical help and to have an early diagnosis. Knowing that you are at certain risk to develop the disease allows you to diagnose the disease early. We also know now that early diagnosis improves outcomes. Of course also, it has psychological downsides. Not very infrequently, you hear patients that are being diagnosed with hereditary PH who already have children that they feel kind of guilty. It's strange, because of course it's none of their fault, but they do feel like, oh, I've passed this along to my children and now they may also be at risk of this disease. That can cause some psychological stress for some people. But in most instances I think it gives a better grip, a better handle on the disease and allows you to do something for your children.

Then, there are some other things that you can consider about family planning. You can think about this maybe more carefully. There are things that you can do to minimize the risk of passing on the mutated gene to your offspring. There are possibilities that open up and that you can start to think about. When it comes to the legal issues, it's of course different in every country. In most European countries, the legal ramifications of knowing that you have a mutation that is a risk factor for pulmonary hypertension is not too much. You can still get a mortgage. You can still buy life insurance. In fact, if you already know that there's pulmonary hypertension in your family, you would have to say this because this is a potentially genetic disease. It doesn't change. Only if you test negatively, in fact, you can say this, but if you don't test, there's uncertainty. So you still have to indicate this. 

But in the Netherlands, the insurance companies, they cannot charge you. If you know you're a mutation carrier, but you're healthy, insurance companies cannot charge you more for their insurance fees or whatever, or they cannot give you a higher interest rate for your mortgage just because you carry this mutation. That would not be possible. There's some exceptions, like super high life insurance. If you want to ensure your life for multiple millions of euros or dollars, then it may have some consequences. But generally, there are no legal consequences of knowing you have a mutation. 

I don't know what the cost is in the US, obviously, but the costs have really come down for all these genetic tests. What is usually done, it's not like a whole genome sequencing, but it's a focus panel of somewhere between 10 and 20 genes. It varies a little bit hospital by hospital which genes are being tested, but it's a limited panel of genes that may be involved in development of pulmonary hypertension that will be tested. So it's not a super expensive test, but still, I know that in the US in general, it's not reimbursed. 

In the clinical management of a patient, knowing that there is a mutation, it gives some information, for example, in prognosis. In general, hereditary PH in all the cohorts, it tended to be a little bit more aggressive than other forms of idiopathic PH. That gives you more reason to be quite aggressive with upfront treatment. So upfront triple therapy is something that is considered really early on in a patient with a mutation. In fact, the data showed that if you do this, so if you find a mutation and you decide to give fairly aggressive upfront triple therapy, prognosis becomes actually really good.

In some of those patients, maybe a choice would've been made by giving just oral combination therapy. But now by knowing that there is a genetic cause of the disease, treatment may be escalated earlier on and this could improve outcomes. But I think a lot of the ramifications for genetic testing are not just for the individual but also for the family members. That's actually where a lot of the consequences also are. So being informed about your own genetic cause of your disease allows you to alert your family members, children, siblings, to make them think about doing genetic testing as well so that they are better informed about the potential risk that they are at to develop pulmonary hypertension. They can consider this, they can consider genetic testing, and if a mutation is found, they can be surveyed and more closely, which I'm convinced really helps them. It has happened too often also in our practice that you see a sibling of a patient with pulmonary arterial hypertension that you treated maybe 10 years ago and unfortunately passed away. Then, this sibling comes in also at a very late stage of the disease and it feels like such a missed opportunity. If you would've known that this sibling had the same mutation, you probably would've made an early diagnosis and could have done a lot for this sibling in this case. 

But coming back to a patient who already has pulmonary hypertension in whom you detect a mutation, there are some consequences to clinical management in terms of being maybe a little bit more upfront with combination therapies. Where it also informs is I think particularly in young patients in family planning. This is something that people do consider, like could I pass along the mutation to my children? You can think about this. If you want, there are techniques to avoid passing on the gene to your offspring. That's also something that you can consider then. That's of course both for male and female patients. 

We've done some research into this also and how people like this best. These things are slow. You do genetic testing and it takes a couple of months before you get the result back, so it's all quite slow. But if you do get the positive result back, you do have a genetic mutation, we used to give just a letter on paper to this patient. We will tell him or her, like you can distribute this to your children, your siblings, your cousins. This created actually quite a bit of barriers. Some people obviously wanted this, but for a lot of other people also, this created some hurdles. So what we do right now, if we identify a new patient with PH and with a mutation, we just offer a Zoom session or Teams, like just a kitchen table session.

We tell this patient, invite everybody you want in your family, send them the link or invite them over to your home, and I will be online and they can ask all the questions that they have. We do it in a more personal way, but then by Zoom or by Teams. This works actually quite well, because you can directly answer all the questions that they have. It doesn't mean that everybody wants testing, of course, because there are pros and cons. But I think in terms of giving information, it really helps them. 

We have a research program, unaffected mutation carriers. So all the relatives that we do detect a mutation in, we offer them to come in every year and to do mainly a baseline. We do a CT scan and an MRI. They come in every year and we do an echo and an exercise test and we take blood samples. The whole idea is obviously to identify the development of pulmonary hypertension really early on, which happens. In this program, we do detect pulmonary hypertension early. I think we've helped quite a few people by doing this. But there's also an interesting scientific aspect of this because we collect blood samples from all these individuals. In those individuals that do develop pulmonary hypertension, we have historical blood samples or imaging or whatever kind of biomarker we took. Of course, it's unfortunate because they developed the disease, but if we gather more and more data, that could help us to identify an early marker of the disease. 

Right now, we diagnose the disease because patients basically develop heart failure because that's why you get symptoms, not because your pulmonary vessels become sick, but because your heart is not able to cope with it any longer. But it's quite likely that your pulmonary vascular diseases happens much earlier than heart failure. We hope by having this program that ultimately, we will be able to maybe identify a blood biomarker that could become an early a test for early diagnosis of pulmonary hypertension. That's of course something that everybody would really like to have, to have a simple blood test that enables early diagnosis. That's also an interesting aspect of following these unaffected mutation carriers. We do this collaboratively with a cohort in France and a cohort in Germany and the UK. All these countries, they do genetic testing. So together, we follow quite a few unaffected mutation carriers now. Hopefully in the next couple of years we will be able to identify some useful biomarkers.

I'm Harm Bogaard, and I'm aware that my patients are rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com #phawareMD 

Harm Bogaard, MD, Ph.D., FAHA is a pulmonologist at the Amsterdam UMC. In this episode, he discusses the role of genetic testing in the treatment of patients with pulmonary hypertension at its role in clinical research.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: info@phaware.com #phawareMD