Perspectives on Improving the Rare Disease Patient Journey - Dr. Maria Pfrommer, Director of Nursing Education at Osmosis and her husband, Jack Pfrommer


Regular listeners to Raise the Line know so-called "rare diseases" aren't really rare when you consider up to thirty million Americans are affected by them directly. That makes it likely you know someone who is impacted, or you know one of their colleagues, friends or loved ones. That fact has hit home at Osmosis over the last few months as we've started planning a major focus on rare diseases for 2023, which we're calling The Year of the Zebra. Several teammates have come forward to tell us their rare disease stories and we'll be sharing some of those on the podcast in the coming months. First up is our Director of Nursing Education Dr. Maria Pfrommer and her husband, Jack, who join host Shiv Gaglani to offer insights into the diagnosis and treatment journey they’ve been on to deal with Jack’s battle with retroperitoneal fibrosis, an inflammatory condition which can cause obstructions in the urinary tract. While Maria’s vast clinical knowledge and experience in healthcare systems has obviously been helpful, it was still a struggle to get the right diagnosis and treatment due to limited experience among healthcare professionals with rare conditions. “From my perspective, I really think that we need to learn more about rare disorders from every level of care,” she says. Tune in for great real-world advice for healthcare professionals dealing with rare disease patients including the importance of listening to the patient, understanding their whole life picture and focusing on transitions of care.




Shiv Gaglani: Hi, I'm Shiv Gaglani. Regular listeners to Raise the Line know that so-called "rare diseases" aren't really rare when you consider up to thirty million Americans are affected by them directly. That's nearly 10% of the US population and makes it likely that there's probably someone you know who's impacted, or you know one of their colleagues, friends or loved ones. That fact has hit home to those of us that Osmosis over the last few months, as we've started planning a major focus on rare diseases for 2023, which we're calling the year of the zebra. Several teammates have come forward to share their rare disease stories and we'll be sharing some of those with you on the podcast, starting with our Director of Nursing Education, Dr. Maria Pfrommer, and her husband, Jack, who are with us today. Thank you both for taking the time to join us.


Maria Pfrommer: Thanks for having us.


Jack Pfrommer: Thanks.


Shiv Gaglani: Whenever we do these two-person interviews, I like to call on people specifically to answer different things. So, I'm going to start with you, Maria, because obviously a lot of our team knows you really well and a lot of our audience has benefited directly from the work that you lead for us in nursing education. Do you mind telling us a bit about your professional highlights and what drew you to the nursing profession?


Maria: Sure Shiv. Thanks again for having us on the podcast. Really appreciate it and the opportunity to kind of give our story. I think it's important, especially since we're going through this currently with this rare disease diagnosis. 


Jack and I met back when I was working myself through nursing school as a single mom. I worked construction, and Jack and I were friends for a good eleven years. We finally hooked up and actually this month will be twenty-five years, hon. So, we’ve been married for twenty-five years. Eventually, I did become a nurse and after I got my first nursing degree then I started into getting into education and whatnot. I've been in education and also a practicing family nurse practitioner for about twenty years now. I've been with Osmosis since April as the Director of Nursing Education, where I lead a very creative team of nurse educators, and we create Osmosis videos for undergraduate and graduate nursing. I also teach in nursing. I teach undergraduate and graduate.


Shiv: Yeah, I know. It's amazing and your team is wonderful. We just celebrated our milestone of releasing over six hundred nursing videos. Congrats to you all on that. More importantly, congrats to you two on celebrating twenty-five years together. So, let’s throw to you Jack. Can you tell us a bit about some of your personal and career highlights?


Jack: I did construction work. It's something that my father did, and I just did that when I got out of high school and that's my highlight. I played music in bands and did all kinds of crazy stuff back in my day.


Maria: I thought it was funny though, Shiv, with Jack. He was in high school and he was in this special pre-med program. It was a for kids that had a very high interest in going into med school or nursing school. When he graduated high school that summer, his dad said, "Come on, kid, you're coming with me. We don't have money for you to go to college."


Jack: We were a little short. That was like late 70s. Like I graduated in '80. We had just been in a recession. So, yeah, there wasn't money there. He said, "You're gonna work with me tomorrow. You're not going to the Jersey Shore for the summer with your friends." Yeah.


Maria: Yeah. And then he saw me going through school and said, "Forget it. I'm not doing it."


Shiv: Well, that's sometimes how things happen. Obviously, we're going through a recession right now and people are going through different decision making. Do I go back to school or not? So, Jack, let's go back to you. I know, unfortunately, you've been dealing with this health issue, since I think June. You were diagnosed with a rare disease, or zebra, called retroperitoneal fibrosis which I never heard about in med school, and I doubt many of our listeners have heard about it. Can you take us to the very beginning of your experiences and talk about some of the first symptoms?


Jack: When I was twenty-eight, I had been diagnosed with irritated bowel syndrome which progressed into Crohn's disease. So, I had been getting treated since I was twenty-eight for that. And I had had a doctor that was getting ready to retire, a gastroenterologist, and he said let's get a CAT scan of your digestive tract to make sure everything's on track before you go with somebody new. I was going to my family practitioner because I was having some sinus issues. We were treating it with a short course of steroids but it kept returning, and then I got some bloodwork done and he said "Your creatine rate is high, showing that you're having a kidney issue." I had gotten the CAT scan in the same timeframe and it showed I had a mass in my retroperitoneal area, a thin mass, but it was spanning across the pelvis


When he looked at that, he concluded that my ureters were being displaced from that, and that's what you get with retroperitoneal fibrosis, and it restricts your kidney function. He suggested going and getting nephrostomy tubes put in and I was on immunosuppressants for the Chron’s, so oncology came in and we talked about biopsies and stuff because I was on immunosuppressants that lead you to be susceptible to lymphoma. So, they did biopsies and didn't find anything conclusive. Our interventional radiologist said he thought it was this retroperitoneal fibrosis. 


Maria went to the computer and did the research and said we had to find somebody who specializes in it and she found three people. We were able to get in at the Mayo Clinic in June and they were the ones who did the final workup. But after a PET scan, they found that I had a small lymphoma in my back and that came back as B-cell follicular lymphoma. Their conclusion was the lymphoma was causing the inflammation response in my retroperitoneal area because they didn't find any B cell involvement when they did biopsies down there. So that was about where we were at and between Mayo Clinic and our local hospital, they came up with a treatment plan and we're in the middle of the treatment plan currently. 


Shiv: I’ll turn to Maria and talk more about the clinical workflow that you went through, but how are you? How are you doing now, Jack? Like how are you actually feeling as you're going through the treatment? 


Jack: You know, I have mild side effects from the chemotherapy that they came up with. It's bendamustine and it's not very harsh. After I get my treatment, it's a two-day thing. They're giving me a bone marrow stimulator so that your counts don't drop and you recover faster. I'm having more issues with the bone marrow stimulator that they're giving me then actually with the chemotherapy. You kinda have to lay low for about four or five days after you get it. That's my issue. I feel as though I'm doing very good with what I got going on and I'm still staying active and doing stuff. People I know from work that are retired are like, “I can't believe you're still out doing stuff. Everybody else just packs the door and you see him six, eight months later." I said "Well, I don't feel like being that person."


Shiv Gaglani: That's often the best approach, right? To stay positive and keep active as you are. And obviously you have great support in Maria, not only as your spouse for twenty-five years, but also because of your clinical background, Maria. So maybe you can give us your take as both the spouse wearing that hat, but also your nursing provider hat about how this has gone down.


Maria Pfrommer: Oh goodness. I have to tell you, I work with some of the brightest minds in medicine. It's Cooper University Hospital, they have an affiliation with MD Anderson Cancer Center. It's a Trauma 1 Center. They have a medical school associated with it, and in this particular instance where Jack went in the hospital, I was really surprised when these greatest minds in medicine came up and said "We really don't know what this is, Maria,” and then, “We think it is retroperitoneal fibrosis." Then I asked, “Well, how do we treat that? And a surgical oncologist with thirty years of experience said, "I don't know. I'm an oncologist. Look it up, Maria. And you're probably going to need to go to Penn or Mayo or something like that." 


As I mentioned earlier, I teach in nursing and I’m a full professor in a small school that is owned by the University of Pennsylvania. So, I thought, "Oh, I have plenty of connections. I should be able to get right into Penn," and was not able to do so. You know, no one really knew what it was to begin with. It just was hard for me because they were so baffled, and I'm not used to that. I mean, these are physicians and team members that always have the answer and a clear path, so from that perspective, I think I was just a little unnerved by that and also by not really knowing what retroperitoneal fibrosis was despite twenty-plus years of experience. 


I have access to really strong databases that give me the evidence. I was able to come up with experts in that field, although it’s rare. We knew we would have to travel if we couldn't get into Penn, and even at Penn, it was like people that were coming out or residencies and fellowships. 


So anyway, we were able to, thank God, get into the Mayo in Rochester, Minnesota. They've been very collaborative at Mayo. The first rheumatologist there -- his name is Dr. Matthew Koster -- specializes in retroperitoneal fibrosis. He insisted that we get a PET scan. Insurance wasn't covering it, so he kept doing the appeals and finally he said to us, "I'm gonna keep fighting this, but there's a chance you might have to pay for it." What did they say that was...eight thousand?


Jack: Seven or eight thousand dollars.


Maria: Seven, eight thousand dollars for this PET scan. We said do it. You know, we traveled all the way to Minnesota, and we'll fight with the insurance later. Thank God, he did do that, because then they found this follicular lymphoma. The term he used is "paraneoplastic," meaning that the lymphoma is causing retroperitoneal fibrosis. Ordinarily by itself, they wouldn't even treat the follicular lymphoma. They would watch and wait someone who is Jack's age and they may PET scan him every six months until the cancer actually flares up. But because it was causing this urinary obstruction, it was the opinion of Mayo Clinic and Dr. Koster that we then be treated from an oncological approach and then we'll see what is uncovered with the retroperitoneal fibrosis. 


So, that's sort of where we're at right now. He's at treatment three out of six and at the end of the month, you'll get a PET scan, and they're gonna go from there. The main thing that they're looking at is the urinary obstruction and so far, he's been doing pretty good. He went from getting nephrostomy tubes to urinary stents and gets those replaced every three months. When they were doing the last replacement, they were actually able to take out the right stent, so he only has one stent in now. 


He's getting a combination of rituximab and bendamustine, and then Neulasta. Neulasta is the one that's given them the hardest time. It's like three days of treatment. They're hopeful that this may reduce the inflammation in that area, and then he'll be able to get the stent out, which is going to be directing the treatment plan. Mayo will do all over reads of our testing and our blood work or PET scans and whatnot, and they're working collaboratively with MD Anderson Cooper. We're doing a lot of telehealth with Mayo right now. We're not necessarily traveling out there. That's what's going on.


Shiv: That's really helpful. I appreciate the detail. I know our audience will as well. So, you've connected with the leaders at Mayo in this particular condition, and have a really good clinical setup it seems between Cooper and Mayo. Can you talk to us a bit about maybe connecting with other patients, or is there a strong retroperitoneal fibrosis or lymphoma community that you've connected with?


Maria: There's a couple of social media groups and there is a retroperitoneal -- RPF for short, if you will -- RPF group on Facebook that is actually run by a very knowledgeable fellow that was able to give us more information. From what we understand it takes some patients three and four years actually to get diagnosed. Jack is on there all the time and we're always kind of keeping up to date and communicating with other folks around the world that have RPF. Sometimes, we actually have to use the translator. Did you find that helpful, hon?


Jack: Yes. People go on when they get their treatment plans and they'll ask, “Does anybody know what are the side effects of this? I'm getting this treatment? Has anybody got it? How long are you on it? You know, a list of questions. Then other people in the group can make a comment and tell him that, you know, I'm getting the same treatment. I had this side effect. This didn't bother me. That type of thing.


Shiv: Yeah, I find those community support groups are important for anyone dealing with the healthcare system, but in particular, it seems for people with rare conditions where it's hard to connect it. I can't imagine how people used to do it before we had technology and the ability to connect with people. Do you happen to know how common RPF is? I'll have to look into that. And clearly, we want to make an Osmosis video about it at some point.


Maria: I would need to look up. And since it's kind of scattered, to be honest with you, I did kind of look into it, and it was like one in 100,000 but it just depends on where you look for that information. In terms of the actual clinical picture, that can vary as well. Most cases of RPF have no known cause. However, there is a strong correlation between autoimmune disorders and Jack has Crohn's, and Crohn's is an autoimmune disorder. In fact, he had been treated with a medication that also put him at risk for this follicular lymphoma. It's called remicade. So, their thinking is that those two factors put him at the highest risk for this retroperitoneal fibrosis. 


There’s another possibility. The fact that it's a rare disorder is kind of limiting the research but IgG4 – which is an autoimmune disorder -- is also something that they tested Jack for, and that was ruled out. So, he's negative IgG4 or non-IgG4 RPF. 


Shiv: Very interesting. We're definitely going to be doing a video on this and we’ll be leaning on you, Maria and Jack, for your experience as we produce it. This is a question for both of you, and you can take turns. Taking it back to everything you've learned in the past six months since the diagnosis -- and now the treatment plan you're on -- what advice do you have for current and future healthcare professionals when dealing with a new patient who was just diagnosed with a rare condition like RPF? What do you wish they did differently? Or better? Or maybe, who treated you like you think everyone should be?


Maria: What do you think, Jack? Do you want me to start? Or do you want to answer from your perspective?


Jack: I would say if you have cancer or anything like that, we're learning trial by error. But you definitely would need to get second opinion or third opinions. Everybody we dealt with said there's never too many opinions. So, if you can get in to see somebody and get somebody else's take on it, that will help in your decision-making process. Get as much input as you can before you commit to a treatment plan.


Maria: I guess I'm seeing it from all angles with obviously Jack being my husband, but then also as a nurse practitioner and as an educator. You know, there were so many different facets when this was going on, but one of the things that always comes to mind that we teach when we precept is listen to the patient. Especially with rare diseases. They're the ones that are really looking into it and if you're not familiar with it as a healthcare provider, it's very helpful to listen to the patient. They know what is going on because they're the ones that are going through it. 


And then, of course, not all signs and symptoms are going to fall into that certain box where you're looking to check things off. Jack didn't present typically with this particular RPF. Usually, patients have abdominal pain and it takes years for it to be diagnosed, and this was not the case with him. So, an example would be this IgG4. As soon as they were barking up the RPF tree, I started to look it up and asked my colleague, "Could we do an IgG4 lab?" And they were like, “Why IgG4?” Well, there's a connection between autoimmune and IgG4 and they readily did it. And it's not just because I'm a nurse practitioner. I also think that they were listening to their patient, you know, that this is what we're reading and they wanted to reassure us that they're doing everything that they can. 


I think it's also about taking a very comprehensive approach. Being a nurse practitioner, one of the things that nurses and nurse practitioners are very much involved in is the transitional care piece. Here we're dealing with highly specialized physician-led care, where the physicians are making the diagnosis and then the initial treatment plan. But the trapdoor doesn't just fall out here. You need to help people with learning their medications, where to go, and whatnot. That was one. Then there’s the telehealth piece and leveraging the technology. We were very fortunate. I work remotely and I was able to get some vacation time and fly out to Minnesota. But as it turns out, they could have also done a consult via telehealth and insurance, of course paid for that. So that's something I would say to patients. If you can't get in physically to see them, see if you can get a telehealth appointment, which worked out really well for us.


Shiv Gaglani: That's great and certainly. You have a one in a 100,000 condition and just a couple centers of excellence, like the Mayo Clinic, for RPF. Being able to get to the experts nowadays with telehealth is critical until you can kind of get squeezed in for a slot. Still on you, Maria...wearing your Osmosis hat, has this experience influenced what you think we should be doing at Osmosis or Elsevier in terms of covering these conditions or teaching our students to listen to the patient, as you mentioned? What are some takeaways about how this will influence your work?


Maria Pfrommer: I have a script in my head. We create videos and we start out by writing a script. We have a nursing product and an advanced practice and nurse practitioner product. So, one thing that comes to mind is at the different levels of undergraduate and graduate, I could see having actually two different educational modules, and maybe even a certification at some point. From a nursing standpoint, with the bedside piece, if you're in the hospital it’s important to look at the social determinants of health and the educational level of the patient from a health literacy standpoint. What family members are involved for the needed support, and then also assessing the social determinants of health to make sure that they will be able to transition well from the hospital to the home and then if not, creating those referrals. 


For example, in the hospital, we do physical therapy and occupational therapy, but maybe we need to mobilize a social worker. This is a patient who may not be able to get to and from appointments or may not be familiar with the technologies to be able to take advantage of telehealth. All these assessments can be happening while the patient is inpatient. Then also ordering a homecare consult for a nurse to come out to the home to make sure that the transition is happening from the RN level. At the nurse practitioner level, when the physician teams have made a diagnosis, following up with that patient from a disease management standpoint and making sure that all the preventative health is still going on. So, for example, Jack recently got his flu shot, pneumonia vaccination, and was boosted again for COVID. Especially when they're going through these specialty visits -- I see a cardiologist, I see an oncologist -- you need to keep seeing your primary care provider.  It's such a high-level type of disorder that Jack’s going through, so having someone that can help you through those transitions is key. There's just so much to it that we could probably fill up another podcast. 


I can absolutely see needing several videos just based on retroperitoneal fibrosis and just the whole issue of what do you tell patients that have a rare disorder? When these great minds are telling you, "We don't know," that's pretty scary from where I sit and from where Jack sits. I think it's up to us, honestly. We're obligated as professionals to address this. Let's get it out in the open so that we know that, “Oh, yes, you do have a rare disorder. But here's where you can go for that. These are the resources that are available to you.” This is how you help transition this patient, this is what this patient's going to need, they're going to need to see this specialist every six months. In our case, they didn't even know what specialist handled it. We found out on our own that it's rheumatology, by the way, the initial diagnosis is rheumatology. You would think oncology but it's rheumatology in his case. 


So anyway, like I said, it could be a completely new podcast just on nursing, nurse practitioner, and then of course, when the nurse practitioners should be referring over to the specialist, and this whole physician level of care. The nurse practitioner needs to know what they don't know and also what they need to elevate to the next level and there's a lot to that. You have to really be self-aware of what you can and can't handle at the level that we're at.


Jack: When we went to the Mayo Clinic, our rheumatologist said, “You have something that's rare, and when nobody knows what it is or what to do with it, they kick it to rheumatology. That's why you're seeing me.” He said that's what we do here.


Maria: Amazing experience. Eighty minutes, Shiv. Our first appointment with Dr. Koster was eighty minutes with him. It was just the most amazing healthcare experience at Mayo Clinic, you know.


Shiv: That's incredible.


Jack: That was it.


Shiv: Well, again, the nuance here. This is one reason we're so focused on rare diseases. Because one, it's very scary for the patients and the clinicians like you, Maria. You're a clinician and a family member to get a diagnosis that nobody knows much about, or very few people know much about. So, that's a whole course that we could develop together, potentially. We're talking about that. In addition to the specific conditions, there’s a lot of the major themes we try to get across at Osmosis, like listening to your patient, social determinants of health care, centricity or care coordination with multiple different stakeholders. Those are things that apply to retroperitoneal fibrosis just as much as they apply to diabetes. But in the second case, they are a lot more stark because it comes out in a much bigger way. Patient literacy clearly is a big one. 


I want to end with one question, which is what else would you like our learners to know right now about you, about RPF, about your health journey or just about being good clinicians and providers?


Maria: Well, from my perspective, I really think that we need to learn more about the rare disorders from every level of care. Also, what we all do as far as referrals go and when to elevate to a different level of care, or when to refer to nutrition or any of the other disciplines. The interprofessional approach, I think, is, is one of the big things. And leveraging the technology. That is the biggest thing. I'm very familiar with technology and do telehealth visits, but in this case, it was so helpful to have our backs, you know, so it's really nice that Mayo is in there overreading things to get that second opinion. What about you, Jack?


Jack: As far as the rare diseases? You know, I never heard of Crohn's disease before I was diagnosed with that. I never heard of retroperitoneal fibrosis. Until somebody you know or you get something and they refer to that, then all of a sudden it seems like there's all these people that say, "Oh yeah, I had that too." But you don't hear about it because a lot of people don't broadcast their situation on a daily basis. Like, when I was getting treatment Maria's like, "Are you gonna let people know?" And I'm like, "Well, I don't want to be the Debbie Downer that brings the world down. Maybe it'll just kind of get treated, it'll go and that'll be it. I don't want to drag everybody else down.” 


But I can see people feeling helpless if they can't get the resources they need. I think getting the resources and having somebody pointing you in the right direction is important. I had Maria advocate for me, but if I didn't have her and I was in the hospital, I mean, I, I could have been taken down the rabbit hole and I'd be like people on the retroperitoneal sight. It took some of them three years to get a diagnosis because nobody pointed them in the direction that they needed to go. I was asked, “You didn’t have any symptoms.?” And I said, “No, I had no symptoms.” I'm out golfing four days a week. I go to the gym. You know, I would say I'm active for sixty years old. But I also told the doctor, “I turned sixty and the wheels fell off.” 


I think people need to get that directional piece if you don't have somebody to advocate for them. The educational end would be having the nurses or whoever's doing the videos that take care of the patient by directing them in the right direction. Even if that's not your specialty, you can give them resources and say, "Go A, B, C. If that's a dead end, this is the route you need to take.”


Maria: I feel like people need help. I was able to be there and persist with "Okay, yeah, we'll do the PET scan even though the insurance isn't going to cover it." Most people don't realize you can appeal a decision the insurance company makes. So, this persistence piece, I think is key. Then also I noticed that a lot of people didn't know what was going on. They never heard of retro, healthcare professionals, and I would encourage them to read the note from the specialist who is diagnosing it. It shows you the full workup. It shows you what that professional is thinking, and it will help expand your knowledge base as well. 


As a family nurse practitioner, I'm very adept at reading all different specialist notes and then putting everything on the same page for that patient. I think that's why it's so important that the family provider and the family physicians are involved in a patient's care. They tend to get very busy with the specialist appointments, and they need to kind of come to home base and see their PCPs as well. So, those are some of the things that I think we learn together.  


Another idea is recording encounters with your providers. Sometimes when I ran home to get a shower or whatever, I'd say "Jack, if the doctor comes in, ask them if it's okay to record or ask them if it's okay to Face Time with me." Because even though two of us were in the room, sometimes we heard two different things. (laughs). At Mayo Clinic, we also had a hematology consult, and they started the plan of care for Jack with the follicular lymphoma. I said, “Are you okay if we record this?” Because there's so much information coming at you, and it takes a while to digest it. And sometimes we went back to that recording and realized, “Oh, that's what they said. That's why they're doing this, or that's why the staging is this.”  


Shiv: Those are some really great insights. And we're definitely gonna capture them. I’m very excited to work with you and your team -- on the nursing side, but also the medical side -- to create this content that hopefully trains not just the students and healthcare professionals, but also patients and patient navigators and case managers who are the ones who are actually actively in the room and trying to help that patient and their family connect those dots. As Jack was saying, “A, B, C, D. This is the path you should go.”


So, I really appreciate you both sharing your story. As you know, Maria, our vision at Osmosis is everyone who cares for someone will learn by Osmosis. We chose that because we realize that, ultimately, we are the patients. Everyone is going to be a patient themselves or has a loved one who is the patient. I know, Jack, that nobody wants you to have gone through this, but going through this has informed Maria, which will inform Osmosis to provide the best education to produce the most empathetic and caring clinicians we can. I really appreciate you both coming on and sharing the story and obviously, Jack, let us know if there's anything we can be doing to be more helpful to you and your family as you go through this.


Jack: Okay, sounds great.


Maria: Thank you for your support, too. Our teams have been fabulous with supporting us through this.


Shiv: Absolutely. Well, thanks again, and with that, thank you to our audience for checking out today's show. Remember to do your part to raise the line and strengthen the healthcare system. We're all in this together. Take care.