It’s easy to speak with patients, hear their stories, and affirm we understand what they’re going through. But the truth is we don’t. Unless one actually lives with a rare disease, there’s no way to relate to how these men and women think, feel, or manage to get through every day. When I had the pleasure of talking to Sarah, it was one instance where I could almost say, “Yes, I know what you mean.” Not because I could identify with her daily battle, but because she was so passionate and precise when telling her personal story as a patient with intimal fibromuscular dysplasia (FMD).
Howard: Hi, Sarah. It’s very nice to meet you.
Sarah: Hi, Howard.
Howard: I appreciate you taking the time to speak with me today. From what I can remember from our last conversation, you weren’t diagnosed with fibromuscular dysplasia (FMD) until you were about 31 years old. Why was there such a delay in diagnosis?
Sarah: That’s correct. It’s very standard for there to be a delay in rare disease diagnosis. I want to say the average is a four-year delay from symptom onset to diagnosis, which to me, even seems quick. It’s hard to find people who are willing to look for zebras. I don’t know if you’re familiar with the saying, “when you hear hoofbeats, think of horses not zebras.”
Howard: Yes, I’m familiar. Actually, I think the first time I heard it said was on an episode of the show House. To put it most simply, it’s a phrase in the medical community and refers to something that’s “obvious,” right? For instance, if you have symptom A and B, the diagnosis must be C. I’ve also heard about it from other patients in the rare disease community who we have spoken with.
Sarah: Yes, exactly. Horses are “obvious.” The moniker—“zebra”— has been applied to those of us in the rare disease community. Zebras are the “unobvious” answer.
Howard: It’s a great way to represent rare disease and patients like you; makes it more identifiable to those who may not understand exactly what rare disease means. So, let’s talk more about your diagnosis. Could you tell me about the beginning of your journey?
Sarah: Sure. My diagnosis was a little more difficult because I don’t have the primary form of FMD; I have what was formerly called intimal fibromuscular dysplasia (FMD).
It wasn’t until my senior year of college that I even presented with high blood pressure. At the time, I figured I was kind of stressed out and not living the healthiest life. After I graduated, I moved to South Carolina for my first job and ended up seeing a doctor there who also noticed that I had high blood pressure. We tried some medication and nothing worked. I started getting migraines, went back to the doctor and he sent me for an MRA to look for renal artery stenosis.
That was the beginning. My GP referred me to a vascular doctor who then took my films to a conference and then those at the conference decided to refer me onto an academic center at Wake Forest University in North Carolina. While there, the focus was not so much on the diagnosis as it was on the impact of the disease on my quality of life. In retrospect, now I realize how unhealthy I was, but at the time I just sort of accepted it and thought it was perfectly normal to fear eating and spend nights sleeping on the bathroom floor.
Howard: I can’t imagine how you felt at the time. It must’ve been overwhelming and frightening to not have a clear understanding of what was happening to your body and why you were getting so sick so frequently.
Sarah: Absolutely; I was basically always in crisis. At Wake Forest, they ran just about every test on me. We did every inflammatory, ANA, JAK2 marker… Just anything you can think of and nothing was found. Finally, I got my medical records because after everything I thought this had to be more than bad luck. I started reading my surgical reports and the closest thing to a diagnosis was a past report saying something about similarities to FMD, but not anything currently recognized as FMD.
Howard: After living through that exhausting experience of not getting answers from doctors and realizing you had to take charge of your own situation, what have you learned? Or more specifically, what is it that you think can be applied to help encourage earlier diagnoses for patients facing intimal FMD or other rare diseases?
Sarah: With FMD specifically, we really encourage the screening for young female patients with resistant hypertension. If nothing else, do a vascular ultrasound. It’s non-invasive, and it’s not the best thing either, but it’s something. Blood pressure is also good to take. Doctors really like things that you can test because there’s a degree of certainty. I respect it. But within the rare disease market we don’t have tests—generally speaking. There aren’t biomarkers. You can’t draw a vial of blood and then “poof” get an answer in 48 hours. The cases are complex.
Another thing—doctors should look at their patients and really see them, not as data, but as humans. They should also ask questions and listen to the answers being told, even when they get more of a narrative reply than a “yes” or “no.”
Howard: That’s fantastic insight, thank you. For hypertension specifically, there are many different medications on the market. From your perspective, do you feel the pharmaceutical companies producing drugs for treating hypertension have any responsibility to help raise awareness and help encourage early diagnosis of a condition like this?
Sarah: It’s a sticky wicket because on one hand, if a pharma company is increasing awareness of a condition and potentially increasing diagnoses of that condition, they are inherently increasing their market share. Now, what would be interesting would be to build on that and work with patient populations to try to add their needs and most pressing concerns.
Something important to think about here is how we can make sure pharmaceutical companies are doing their best to educate patients on side effects in a way that’s effective for the patient’s health literacy levels and also appropriate. As a patient, I want to be informed, ready, and responsible so that I can take the best care of myself. I want information that I can understand.
Howard: In your experience, have you encountered any level of support or resources that were made available to you from a pharmaceutical company?
Sarah: Yes and no. My answer may be somewhat different in that I have been fortunate enough to work closely with some pharmaceutical companies and get to know the people who are actually on the inside. They’ve been so warm and curious. That in and of itself, like being able to have that experience, being able to get to know these people as people, has done more to change my opinion of pharma than anything else.
The companies are trying to help people. Now, it’s a business, don’t get me wrong. But there are medications that so dramatically help improve my quality of life. I can’t imagine if they didn’t exist. Ultimately, that’s what pharma is about. That’s what pharma needs to focus on. They need to get back to the notion of helping people and being transparent about how, why, and what it takes. That, I think, would be responsible for a larger shift in the overall opinion of pharma companies.
Howard: Sarah, you’re a patient advocate and a leader within the space. What advice can you give to pharmaceutical marketers on how they can work with advocacy groups to achieve their brand objectives?
Sarah: Drop the ego, for one. There’s something about marketing, and it’s that there’s a lot of presumption about what people want and what needs to be done. Try to break down some of the barriers of all the formalities and figure out what it’s like to really be in patients’ lives and what it’s like trying to take a medication while dealing with everyday life.
Another thing, if we could strike the word “adherent” from the record for all time, I think every patient would shoot out cannons of confetti. It’s a prescriptive word that implies patients aren’t doing what they have been told to do and completely strips them of any autonomy. There are reasons why patients may not be adherent and they have extremely valid reasons. That is what needs to be looked into. Are there side effects? How is the medication taken? Are there socio-economic factors? It’s a bigger, bigger animal.
Marketers, companies in general, need to have conversations with their legal teams to figure out how to not be so scared. We really need to work together to change some of the regulations so we can have more open conversations. I think that’s really going to change how the relationships move forward.
Howard: Well put. When it comes to the word “marketing”—and I’m referring to pharmaceutical marketers amongst the patient communities—is that a dirty word? I mean, when they hear “marketing,” is that something they’re turned off by? What’s the perception?
Sarah: In a word, yes. Because patients’ association with pharmaceutical marketing is, “I’m going to take this medication and be able to sit in a bathtub on the beach and hold hands with my lover for no apparent reason,” or “I’ll have this shot of chemo and be running through fields of poppies, happily ever after with my Golden Retriever.” It’s so off course.
I don’t know anyone who has said, “Man, the thing I really want to achieve by taking this medication is sitting in a bathtub on the beach, holding hands with my lover.” Actually, what I want to achieve with this medication is to not feel like crap. I want to be able to get up, get dressed, and go to work for a full day; then come home, make dinner, maybe do something in the evening, and get a good night’s sleep. I want to not know I’m taking the medication, except for the fact that I feel better.
Howard: With those medications, is there any type of support system in place? Are there patient portals or online groups that were created by the manufacturers of the therapies you’re prescribed?
Sarah: I wouldn’t have a clue. I would almost like to see medication-specific support from pharmacies and pharmacists as patient education. But you know, again, it’s this strange relationship because ultimately we don’t want to be reminded that we’re taking this. We don’t want to have multiple touchpoints. We want the medication to work well and we never want to think about it again.
Two of the medications I currently take are hot button issues right now. They relate to pain management, but they’re not technically opioids. However, they’re getting more and more media attention. What’s hard for me to cope with is the fact that there’s a perception amongst the medical community and growing public that these medications are bad things and the people who take them are bad people.
Howard: Thank you for sharing that. I think there are some patients who could potentially develop an unhealthy dependence, but then there are patients like you who need these medications in order to go about your day in a healthy way. There’s a difference. Along with medications for pain management, are there other therapies available for treating intimal FMD?
Sarah: There’s a whole lot of nothing for FMD. There’s just not a lot known about it. We don’t have biomarkers and a lot of researchers are still undecided as to what is and isn’t FMD. The only other medications that are commonly prescribed for FMD are blood thinners and blood pressure drugs—and neither one of those is going to make you feel better.
Howard: Do you feel it would be beneficial for pharmaceutical companies to help patients gain an understanding of some nontraditional treatment methods, such as massage and swimming, and incorporate that into their education materials?
Sarah: That’s a good question. What could be interesting would be to take the blood pressure drug, for example, and let’s say the patient experiences swelling from it. The pharmaceutical company could then provide informed, accurate information on how to resolve the potential side effects. Essentially, they would provide some “alternative therapy” options that are accessible and relatively low on the totem pole.
Howard: Hypothetically, let’s say I was the CEO of a leading pharmaceutical company and I could grant you one wish. What would you ask for that would help you and other patients?
Sarah: Reduce healthcare costs. It’s just too often that healthcare costs destroy lives. It can prevent treatment from even happening or, if treatment is achieved, quality of life suffers because of debt and loss. There needs to be thought put into how we can bring about affordability and access.
Howard: If there was one piece of advice you could give to newly diagnosed patients and their caregivers, what would it be?
Sarah: Find other patients. If they could find any other patient—and the diagnosis wouldn’t even have to be the same—within the rare disease space, shared experiences are created and that builds a sense of community.
Also, patients don’t have to get all their emotional needs met by their disease group. Actually, I wrote a blog post years ago called “Just Because I Have the Same Disease as You Doesn’t Mean I Like You” due to the notion of “well, you have condition X and I have condition X, so we’re going to be best friends now.” We may not have anything else in common other than that, so we may not be the best support system for one another.
Another piece of advice: be honest about what you need and realize that patients and caregivers don’t necessarily need the same thing.
Howard: It’s important for patients and caregivers to know that support in the rare disease community, regardless of where and who it comes from can really help make a difference—great advice. I know you have a background in communications and journalism. If you were going to write an educational brochure intended for a newly diagnosed patient with a rare disease, what are some of the key points you would cover?
Sarah: I would definitely include coping with uncertainty, communicating clearly with doctors, accessing medical records, learning how to vet a doctor, etc. I think all of that is so vastly important, and yet at the same time, if I had just gotten my diagnosis I might be thinking, “Oh my God, what does this mean?” I wouldn’t be able to absorb all of that information, so it would be helpful for patients to be told that resources are available when they’re ready for them.
Howard: This has been an eye-opening conversation for me. I really appreciate all of your time and your willingness to share so many personal experiences. I have no doubt that your insight will be of great value to those reading. I have definitely gained a better understanding of FMD as a rare disease and what patients, like you, go through on a daily basis. Thank you again for taking the time to speak with me today, Sarah.
Sarah: Absolutely. Thank you, Howard.
From uncertainty and a total lack of information at the beginning of her diagnosis to even more uncertainty and confusion as the years went on, Sarah is the epitome of someone who has been able to cope with her condition and overcome it. Impressed by her intellect and willingness to provide insight on the pharmaceutical landscape and how companies can better serve the community, my conversation with the patient-turned-advocate is one I’ll remember for a long time.
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