Advocating for Patients with Rare Disorders – Suzanne Peek, President of the National MALS Foundation
One night, Suzanne Peek was awoken by her son who thought he was having a heart attack. That began a drawn-out ordeal of misdiagnoses and ER visits until he was properly diagnosed with Median Arcuate Ligament Syndrome, a rare disorder which results from a constriction of blood flow to organs in the upper abdomen. Fortunately, Peeks had an easier time than most navigating our complicated medical system due to many years practicing as a certified massage therapist. As she worked diligently to get her son the appropriate treatment, she formed relationships with others in the MALS community. “Some of these people have had the condition for five years, ten years or longer because it was misdiagnosed,” she tells host Dr. Rishi Desai. She now leads the National MALS Foundation, which seeks to spread awareness among medical professionals about rare disorders. Tune in to hear how patient advocacy groups organize, what COVID has meant for people with rare disorders, and how to mitigate the forces that can hinder an accurate diagnosis.
Dr. Rishi Desai: Hi, I'm Dr. Rishi Desai. Today, I'm happy to welcome Suzanne Peek, president of the National MALS Foundation, so we can learn more about this rare disorder.
Median Arcuate Ligament Syndrome results from a constriction of blood flow to organs in the upper abdomen which causes chronic abdominal pain and other significant complications. People suffering from MALS can encounter difficulties with diagnosis due to a lack of awareness on the part of providers, which is why Osmosis was pleased to work with the National MALS Foundation to create an educational video. Suzanne is a certified massage therapist who became involved with MALS due to her son's experience. Suzanne, thanks so much for joining us today.
Suzanne Peek: Thank you. Thank you for having me.
Dr. Rishi Desai: Maybe you can tell me a little bit about how you personally got interested in massage therapy and being part of the health community.
Suzanne Peek: I got interested in massage therapy... I wanted something that was relaxing for myself, but also that had a slower pace and set the tone for healing—not just the body, but the mind—and that energy of a calming environment.
Dr. Rishi Desai: You have been doing that for years, and then you learned of MALS through your son and his journey. Do you mind telling me about what that was like and how that all began?
Suzanne Peek: Sure. I would say it was my youngest son's birthday. Everybody was joking around, and he woke me in the middle of the night saying he thought he was having a heart attack. I checked him out, and after realizing he was tachycardic, called an ambulance.
He was admitted for three days due to elevated troponin. That was the start of it, and he was admitted then, and then was in and out of the hospital, ER, a few times that month. It took us six months to get diagnosed. That was our experience. And then another seven until he had surgery.
Dr. Rishi Desai: How old was he when he first woke you up with that complaint of feeling like he had a heart attack?
Suzanne Peek: He was a month shy of his 21st birthday.
Dr. Rishi Desai: He's a 20-year-old young man, and he comes in with this complaint. Walk me through those six months, if you don't mind. What we're people telling you? What was he hearing? What was your biggest concern? His biggest concern? Anything that you can share to help us imagine what that experience must have been like for you.
Suzanne Peek: When he first woke me up, I said, "Are you sure you're not a little anxious?" And he said, "No. No." So, I got up and we went downstairs, and his heart was pounding really fast and hard. He was clammy. I couldn't quite get a blood pulse. It was really erratic. When I called an ambulance, his blood pressure was like 190/95, so they took it pretty seriously.
With the elevated troponin, we were told they think he might have heart damage. Later after being assessed by the cardiologist, they diagnosed him with pericarditis, and so he was treated for that. But then the next week, he was still complaining, and I took him back to the ER and had a different cardiologist.
He was already getting worked up—EKG, blood work, stress test. After that second visit, the cardiologist said, "I think this might be GI related." He was having GI issues, but the predominant symptom was the chest, the pressure, chest pain. I never heard anybody burp so much. I've worked in a nursing home, been around a lot of people, and never heard that.
He did have an EGD, and he was diagnosed then with mild gastritis. And then he started having the anxiety attacks. Being a massage therapist, you look at musculoskeletal, right? I'm taking a history. I'm assessing him every day, and I said to the GI doctor, "Are you sure this isn't some sort of compression coming from the diaphragm?" And I was told “zero chance,” and it was because he had a CT, and it was read in the report as not having Median Arcuate Ligament Syndrome. That was mentioned. I didn't know it was mentioned.
Then, that night we came home and went back to the ER, because he kept saying, "Mom, you got to take me back." He had elevated liver enzymes then at that point. They kept him and admitted him another three days. Then it was after that that he was in and out of the doctor's offices and had the whole GI workup. He did have elevated bilirubin, so they thought maybe he had Gilbert's Syndrome. It wasn't until I asked for a consult—because I thought, "Okay. My refrigerator is starting to look like the end aisle of a pharmacy"—which, being in hospice as a vigil volunteer, I've seen that before. And I asked for a consult and then the GI doctor, his GI doctor—he was really trying, he was really trying to figure out what was going on—and I kept saying “something's not right.”
And then, he said, "Well, there's this one last test, a mesenteric duplex ultrasound." And then sure enough, that's when they saw the elevated velocities. And then he did go back with another radiologist and looked at the CT which showed the compression as well as later. He had a CTA. He saw infectious disease. It wasn't like we weren't trying to figure out what was going on, but then we did go and saw a vascular surgeon. And then, it was after that that I actually called the president of the Vascular Society, and he gave a recommendation for him to go to Chicago with Dr. Skelly because they had a MALS program.
Dr. Rishi Desai: You're obviously an incredible advocate here and you're speaking to leaders in the field and making sure that your son gets the care that he deserves and needs. That doesn't always happen because sometimes people feel uncomfortable, or they don't know what to do or what they can do. Do you mind talking a little bit about: how did you even know to do that? How did you know to reach out to these folks and get the recommendations to speak to the world leaders on these on these very rare conditions?
Suzanne Peek: I worked at the hospital, the one that he was admitted to. I'm still a volunteer there, and I understand the process. And being a massage therapist also, I have lots of medical books on my bookshelves here. It wasn't difficult for me, knowing the different departments, because I worked in a hospital patient access, and I did go to the ED to admit people. I'm familiar with that.
I was in the Air Force. I know if I want to get the correct information, and maybe the person that is the most knowledgeable—or one of the people that's the most knowledgeable… Knowing that MALS was vascular, well, who should I contact? It would maybe be the person that's the president of the society, right?
Dr. Rishi Desai: Totally logical. And it makes sense given your experience that you're working at that facility, at the hospital. Do you have any insights on why, generally speaking, getting properly diagnosed can be such a struggle? In this case, obviously months went by before you got that key finding on that study.
What are some things, as you look back on that that period of time, that you think "Gosh, if we had done X, Y, or Z, it could have potentially gotten us a result quicker," if anything?
Suzanne Peek: I don't know, since it was the initial suggestion of "Are you sure this isn't a compression coming from the diaphragm?" I would say that the reason it's difficult is because you have the symptoms that people present with, and they vary, because the compression is from the diaphragm, the ligament. It could be some of the lymph involved there.
If you're looking at the anatomy book, you can see all the different organs and things that are taking place, vessels, nerves. Part of that is the symptoms, and having similar symptoms with other conditions that present the same way: gastritis, issues with the gallbladder, some people have slow motility. It really is: what's involved with the compression? What's getting compressed? It's important to get worked up actually, for somebody like my son, and the reason I thought diaphragm compression is because he had the left shoulder pain that radiated down the left arm, and axillary lymph node swelling.
Diaphragm radiates—refers to the left shoulder, right shoulder—and so, that was kind of a giveaway for me. But for other people, you really need to get the work up because you want to make sure... Is it something else? It's more functional versus structural.
Dr. Rishi Desai: That makes perfect sense. Maybe that gets into education. There are things that you knew based on your background and understanding of physiology that helped you, gave you the clues. Do you mind telling me a little bit about the aim of the National MALS Foundation? Why did you set out to create this community and grow this community? And what do you hope to achieve?
Suzanne Peek: The reason really is, when my son got diagnosed and had surgery, I wasn't looking for support or wasn't looking to see who else had it. I was just trying to get him from point A to point B and have surgery and then deal with any residuals or anything like that in a holistic way.
It was when I got involved with the private support group on Facebook, MALS Pals, that I observed, at that point there was hundreds of people, and the severity of what happens with having delays in getting a diagnosis, and listening to the stories, reading the stories and the difficulties people were having and not, maybe, the knowledge that I had, right? And to me, 13 months is still long to go from start of symptoms to surgery.
The reason is awareness. The reason I contacted Osmosis and Shiv, even before starting the foundation was, who can I spread awareness to that will have the largest impact? Future physicians, future nurses. That was one of the reasons. Because, if you're not trained, if it's not taught in school, well then how are you going to recognize it and then acknowledge it and validate it for the person and their family?
What I saw was that the challenges and the struggles were alarming to me because then you have more complexities, you have more conditions that can result from it. I don't believe it's taught in medical school, and I have looked in medical books.
Dr. Rishi Desai: Yeah, it's generally not taught in medical schools. Each medical school has a different curriculum, I can't speak for all, of course. But generally speaking, that's not taught.
What ought to be taught is a thoughtfulness to how to solve a problem that isn't resolving through investigations that are looking at the common things like you mentioned at the outset—gastritis or other common ailments like costochondritis or something like that. If those things are not checking out, what do you do next? I think that diagnostic approach is what ought to be taught.
Do you feel, now that some time has passed—years have passed—do you feel that you have seen any shift in the general knowledge and awareness among clinicians about MALS? Or do you feel like there's still the same level of understanding that you saw at the very beginning of this journey?
Suzanne Peek: I think there's more awareness for it. But even to this day, articles that are usually written about it—case studies—talk about it being debated: that still some believe in it, some don't. The blood flow issue, or with the nerves, is it nerve? Is it neurogenic? Where are the symptoms coming from? I read hundreds and hundreds of articles, and it’s really individualized. It's what's getting compressed. Where are the symptoms coming from? Can it be blood flow? Sure. Can it be nerve? Sure. Can it be both? Yes.
It's not putting that rigidity on and thinking that it's got to be one or the other or that sort of thing. I think there's still that difficulty of keeping an open mind—that it's very, individual case specifics of the person and we have from three years old to 80s. In the literature it talks 20-40, 30-50 and that's just not the case. It's also on the treating physicians, surgeons, to ask who is in that demographic for the people that they see and then they write about it. And instead of having a broad—like in the support group now, there's over 6,000 members...
Dr. Rishi Desai: How did most of these 6,000 members find you guys? What's the most common… Clearly, it's not one story, it's many different stories. But what is a common story that you do hear among how people come and find your foundation?
Suzanne Peek: Some of it is just people searching on Facebook. Some of it is word of mouth. Some of it is through physicians, maybe the GI doctor is aware. Personally, my son's primary care, I gave her a business card and a few months after that, she had somebody who presented with symptoms and then she sent them for a referral.
That's how it starts, with people finding out more and other people who have MALS posting on their social media account, Twitter, Instagram, doctors publishing, the surgeons publishing. That's needed, certainly, the societies, right? What are they doing within their society to educate? That's what I want to see. I want to see more of that and collaboration with other colleagues and specialties.
Dr. Rishi Desai: You very insightfully spoke to the fact that future physicians need to learn about this and that's why you reached out to Shiv and Osmosis about our interest here. I'm curious. Have you heard from other organizations, other groups that may not be ones that we would necessarily think of, but might have equally a huge role to play in making sure that patients with MALS get diagnosed and treated appropriately, including international ones as well?
Suzanne Peek: Nord, the National Organization for Rare Disorders. We are registered with them, and our information is on their website. That's one, and then the NIH has their guard, their division for rare diseases. We are registered on there as well. Those are the main two. Plus, the one thing about the MALS population, what we see is Ehlers-Danlos syndrome. People have a connective tissue disorder. We see that quite a bit. Mass cell activation, or they might have other compressions like Nutcracker, May-Thurner, SMAS, so including that in the discussion as well.
Dr. Rishi Desai: Do you have any thoughts on COVID? How has COVID affected the MALS community in any particular way? I'm just curious if it's affected research, ability to access care, diagnosis, anything along those lines?
Suzanne Peek: Sure, diagnosis. Everything was shut down for a while, and then there's delays because a lot of people are going to larger tertiary hospital systems for getting diagnosed and then surgeries. Of course, even in interventional pain management, we were closed for two months, so there are significant delays, and I'm sure for a lot of other people too, but definitely, for MALS, we saw it. People were desperate, hurting, scared.
In this age, it takes months to get into a specialist sometimes, so that just created a longer waiting period and then to get to surgery. Some of these people have had the condition for five years, ten years, longer because it was misdiagnosed.
Dr. Rishi Desai: We have a lot of students and future health care professionals in our audience. What are your thoughts in terms of how they should be thinking about MALS and other rare disorders as they start to head out into their own clinical practice? What advice might you share with them?
Suzanne Peek: I think to keep an open mind. It's not always the common thing. It's not always what you think it is. Part of that is functional versus structural, structural-functional. What feeds the digestive system? What are the signals? Just keep looking. Be that Sherlock Holmes. Be that person that tries to find out the reason why someone isn't feeling well, instead of putting up the walls.
There's always something. Even if you yourself don't know, you can always contact somebody else, collaborate, reach out, and just keep searching. Because oftentimes, the person that's coming... you're coming into the room, what is the presence you're bringing in there? Someone who's inquisitive? Wanting to know? That sort of thing, and that energy and that relationship that you're going to have with that person to help them, because that's what they're there for. They're looking for guidance. They're looking for help.
Dr. Rishi Desai: That makes a lot of sense. I think that open-mindedness and humility is critical as you said, so that's probably very valid. And also, not really dependent on this particular time, but really any time that a person is seeing a patient. That makes a lot of sense.
Suzanne Peek: The other thing I just want to say is, when a person comes into the hospital or doctor's office, they don't have the same knowledge that a person in medical school or residency has with the system. How can you, knowing the system, make it a smoother process for them?
Dr. Rishi Desai: Yeah, totally makes sense. Making sure that they are on equal footing and have all the kind of knowledge and resources available, and to do it quickly and efficiently and kindly, and all those other things as well. Listen, this has been phenomenal, and understanding your story about your son—a very poignant story—and sharing that with us was very thoughtful of you. Thank you for doing that.
Suzanne Peek: Thank you for having me. It's been a pleasure.
Dr. Rishi Desai: Well, I'm Rishi Desai. Thanks for checking out today's show. Remember to do your part to flatten the curve and raise the line. We're all in this together.