Two Rare Diagnoses, One Powerful Partnership
I’m Aware That I’m Rare: the phaware® podcast
Episode 564 - Neal McDermott and Steve Mathai, MD
Scleroderma and PAH: Patient, Neal McDermott and Dr. Steve Mathai unpack how the intersection of two rare diseases requires trust, early action, and deeply personalized care. This episode explores what happens when medical expertise meets patient resilience, and why collaboration and clinical trials matter more than ever in changing the outcomes of rare disease.
Neal McDermott:
My name is Neal McDermott. I live in the mountains in West Virginia. I was originally diagnosed with pulmonary arterial hypertension in December of 2016. Prior to that, I was diagnosed with scleroderma in 2014. Then, referred to higher level of care at the Scleroderma Center at Hopkins in 2016. Then, referred to Dr. Mathai where I was definitively diagnosed with PAH.
Steve Mathai, MD:
My name is Steve Mathai. I’m a pulmonologist at Johns Hopkins and part of our Pulmonary Hypertension Center there. I’m an Associate Professor at Hopkins. I am actively involved in clinical research in pulmonary arterial hypertension and pulmonary hypertension of all different forms, but I have a particular interest in connective tissue disease and scleroderma associated pulmonary hypertension.
Neal McDermott:
I saw myself declining, my friends saw myself declining, my employees saw me declining. I couldn’t carry my tools, I couldn’t work as hard, I couldn’t play outside. This was an area, where I lived, where outdoor recreation is a biggie. I was a rock climber, back country skier. I lived outside a lot. As a lifetime carpenter woodworker, I really felt something was wrong. Fortunately for me, my best friend was my primary care physician and he saw it also. He was ordering tests. He was staying on it. Then, there came a point where the echoes and the PFTs that he was sending were showing clearly that he needed to bump it up. Lucky for me, I was able to get into Hopkins.
Steve Mathai, MD:
It is a little bit unusual, Neal’s situation. He doesn’t fit the typical demographic of either scleroderma or PAH. There are many more women affected by both scleroderma and pulmonary arterial hypertension than men. But Neal had some classic symptoms and signs of scleroderma. Once you have a diagnosis of scleroderma or a suspicion of scleroderma, the risk of pulmonary hypertension and pulmonary arterial hypertension in particular is pretty high. Because of that, there are recommended screening algorithms or early detection algorithms that are put in place to identify possible evolving pulmonary vascular disease, specifically pulmonary hypertension.
Neal had excellent care prior to presenting to Hopkins and was appropriately referred, which I think is a key thing. When we think about connective tissue diseases and early detection of pulmonary hypertension, it’s really important to have someone who understands that if there are evolving signs of connective tissue disease and it could be scleroderma, it is important to get some expert input regarding the management and risk mitigation with clinical care. I think Neil had some excellent care coming in, and hopefully you’ve had good care since then.
Neal McDermott:
Believe it or not, I did what every doctor wants you to do, and that is to open up the internet and start Googling. I literally was with my doctor, Ed Rader, at the end of this kitchen table looking at images of fingers online, and all of a sudden seeing exactly what my fingers looked like. That led him to continue to do more research. Ultimately, when you are definitively diagnosed, it is confirming in your own mind to say that, “Wow, these things that I think were happening are real.” What my fingers look like are fingers from most scleroderma patients. When it came to the PAH side of it, I was aware that scleroderma may lead to that. So, shortness of breath and inability to do a couple flights of stairs, and then ultimately work. I was incredibly tired doing anything.
Ultimately, when I was diagnosed with PAH by right heart catheterization, I put it all together. I understood. I had pretty high levels, and it all made sense. It made a lot of sense to my wife who watched me decline and was wondering, as well, what was going on. Early on, you start to think, I’m just deconditioning. I can’t keep up with anybody on my mountain bike anymore, or I’ve lost interest. That’s not the case. I couldn’t play outside when it was cold out, because I wouldn’t dare go outside with these hands. So, I was making excuses as to why not to go paddling, why not to go skiing. Fortunately, I had my own business and I was able to just focus it and I could stay in the shop where it was warm. But even there, it was painful. I couldn’t pick up tools. I was dropping tools. When somebody like Dr. Mathai says, “You have severe PAH,” it’s a load off your back. You understand. This is real. Very real.
Steve Mathai, MD:
It is a challenge to recognize pulmonary hypertension and a challenge to recognize scleroderma. To give you kind of a perspective, in the United States, the prevalence of scleroderma is about 300 per million. So, it’s a rare disease. Pulmonary arterial hypertension is even rarer, at about 30 per million, let’s say. We’re talking about a intersection of two rare diseases. So, suspicion of either of those is something that has to be built over a career of clinical observation and understanding of the symptoms, which are pretty universal in terms of shortness of breath, which can be related to multiple different things that are way more common. Most of the time, we have patients referred to us because they’re short of breath or they were referred to a pulmonologist or cardiologist for shortness of breath that can be attributed to things like asthma or deconditioning. That’s unfortunately a common thread that we see.
Even with more awareness, we as a community aren’t doing a great job of identifying specifically pulmonary arterial hypertension. On average, people have symptoms for almost three years before they are diagnosed. So, that’s a challenge. I diagnose scleroderma probably once a month in clinic, and it’s no fault of the physicians. It’s just, it’s not something that is commonly seen but is high on my radar to rule out, because scleroderma in and of itself presents a different set of considerations that you need to be aware of as you progress in the care of a patient. So, understanding the risk factors for other organ involvement in scleroderma is inherently important.
Distinguishing scleroderma from other connective tissue diseases like lupus or rheumatoid arthritis is very important, again, because of the profile of disease and the risk of other organ involvement and management. I think it’s being sensitive and being aware that all shortness of breath is not asthma or deconditioning, and not everyone who has what we learned in medical school is pulmonary arterial hypertension is a disease of young women. That is not the epidemiology now. In fact, the average age of someone with diagnosed with pulmonary arterial hypertension has increased from the mid-30s to now closer to 60. It’s something that we need to keep in mind that that typical thing we learned about years ago is probably not what we’re going to see clinically.
Neal McDermott:
I have participated in a number of clinical trials. I believe that it’s benefited me and ultimately will benefit others. I’m happy to participate. I’m also the beneficiary of others that have. I think that’s critical that we participate to the best of our ability in trials like that, because it’s, ultimately, going to help the next person diagnosed. For instance, I was lucky enough to be diagnosed with PAH shortly after the AMBITION trial that showed a combination therapy to be more effective than a single dose. I responded really well to that, and my numbers went down. Had other people not participated in that trial, we wouldn’t have that information. So yes, I’ve participated in several on the scleroderma side and on the PAH side.
Steve Mathai, MD:
It’s very important when we’re thinking about how to treat patients who have pulmonary hypertension, to consider the limits of our knowledge and the limits of our practice. We’ve been very fortunate over the past 20 to 25 years to have numerous therapies developed. That really has been available or made available through participation in clinical trials. This is a very rare disease. Every patient provides an opportunity for us to learn as a community to better treat our patients. I do try to bring clinical trials up with every patient, and I consciously think about that every time we meet with somebody to see if someone might be a candidate for a clinical trial.
In Neal’s case, he was eligible for a couple of trials that we had and he willingly participated in them. Some of them were observational studies, some of them were interventional studies, but he is someone who has demonstrated a willingness to participate. I think that’s something that’s persisted for him throughout. It’s very gratifying for us to be able to recruit patients who are dedicated, like Neal, to advancing our understanding of this disease, understanding that we don’t know. We don’t know a lot about this disease and what are the best strategies. So, helping us to find that is a key component of moving forward.
Neal McDermott:
One of the trials was during a right heart catheterization. Along with that trial, I believe, you’ll have to help me on this one, I think it was an exercise component that they were studying. I did a right heart catheterization while pedaling a bike. I was thrilled to do that, because I have not been able to ride a mountain bike for 12 years. There I was having a right hard catheterization and riding a bike. It basically showed what my exercise pressures were. I got a lot of information out of that, so did the research team, as well.
Steve Mathai, MD:
Neil, I don’t know if you remember this, but you also allowed us to do a biopsy of your heart. So, we have some of your heart tissue that was very informative for us. One of the things that we learned from that is that patients with scleroderma have different contractile function. So, the contraction of the right ventricle, the muscle itself, is different from patients with idiopathic pulmonary arterial hypertension. That explains a lot of the observations we have clinically where, for any given degree of pulmonary hypertension, scleroderma patients seem to be more affected by it.
If you compare somebody with idiopathic PAH with a mean pressure of X to the scleroderma patient with that same pressure and same degree of pulmonary hypertension, there are differences in both symptoms and in what we might see in terms of their functional capacity, like six minute walk test, etc., that now the work that we did at our center and that Neil participated in allowed us to understand some of the underpinnings of those differences. I’m sure, Neal, you and I really didn’t talk about this other than I asked you about it, but I imagine it’s a pretty scary thing for someone to say, “Hey, we’d like to take a little piece of your heart while we’re in there.” I’m curious about your reaction to that and how you came to the decision to say, “Yeah, let’s do it.”
Neal McDermott:
No problem. I mean, when I’m done with this thing, you guys can have all the parts. I didn’t think anything of it. I thought it was fascinating. I know that I had a muscle biopsy during the myositis diagnosis. That one came from the outside and this one was coming from the inside. You explained it really carefully to me as to what they were doing. What you were just explaining now makes me think I have a question on that, and that is, do they ever do a follow-up? Do they ever compare that muscle tissue from previous, and the therapies that I’m on, does it change it at all?
Steve Mathai, MD:
Well, you’re thinking like a researcher, Neal, because that’s exactly what we’re doing right now. We have a cohort of patients whom we’ve done repeat studies on. I think for you, you didn’t kind of fit into the timeline where we wanted to repeat that, but there’s ongoing studies where we’re trying to understand the impact of medicines, in general, and then specifically thinking about the newer medications that are out there to see if there are some differences we can understand regarding the direct effect on the right ventricular function, and specifically looking at the muscle.
Neal McDermott:
My initial contact with Hopkins and then ultimately with Dr. Mathai, was a really incredibly thorough intake and asking all the right questions. I was asked, “So, tell us why you’re here and how we can help?” As a patient, to hear those words coming from your doctors, it gives you that warm, fuzzy feeling, that you’re in the right place. I was literally asked, “What do you want to be able to do again?” My goal then was to be able to carry groceries from my truck into the house. And it’s not even 50 feet. I’ve made that goal, and then some. It’s a direct result of being a consistent, patient, making all my appointments, being there on time, never missing one. It’s a five-hour drive and I can round trip it still.
Steve Mathai, MD:
I would say that Neal’s been an exemplary patient. Interpersonally, it’s been really rewarding and gratifying for me to get to know him and to provide care for him. We do have our challenges. I do want to emphasize the importance of being able to be open with your patients, and from a patient perspective, your patients being open with you. Neal came in, we asked him those questions, and he was very honest. He said, “This is what I want to be able to do.” I think we had some tough conversations over the years. We’ve been together nine years now, and we’ve had some tough conversations where we have to recognize what is what we want and what’s possible.
Sometimes, there’s a gap there. That is a very difficult thing, I’m sure for a patient to hear. It is equally as hard for a physician to say. Neal and I have developed a relationship where we’ve decided that that’s the key part of our relationship is being open, straightforward, and honest. I think that has helped us over the years. I don’t know, Neal, if you feel the same?
Neal McDermott:
Oh, absolutely. I know I can ask any question, and I know my questions get answered in great detail, as well. I look forward to every appointment. I don’t look forward to the bad news. Of recent, I’ve had good news. I’m being evaluated for transplant, as well. Here’s one of those proactive doctor-patient relationship things. When Dr. Mathai saw that my right heart catheterization numbers had gone back up, he approached me. I thought it was really, really early on that we should start considering early evaluation for transplant. That stunned me. It really did stun me, but that’s doctor advice that I did take. And I have had my fourth evaluation for transplant, and that’s going pretty well, as well.
Steve Mathai, MD:
We want to make sure that patients understand their options, and if that remains an option, there are certain exclusion criteria that potentially would prevent someone from getting a lung transplant, of which I am not an expert. I can’t say, “Yes, you’re a candidate. No, you’re not a candidate.” So, those types of things are important to discuss with patients. It’s important for them to understand what they’re considering, even if they want to pursue a transplant or not, because that’s definitely a patient decision, whether he or she wants to pursue a transplant. Thanks for listening. I’m Dr. Steve Mathai.
Neal McDermott:
I’m Neal McDermott, and I’m aware that I’m rare.
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