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“If patients had an accurate diagnosis and their physicians knew the root of their illness and could treat it effectively, then the medical care costs would go down. The effect on patients of being diagnosed years earlier and having a shorter diagnostic odyssey is impossible to quantify. We need more elephantologists. And fewer silos.”

Heather Finlay-Morreale is a pediatrician.

She shares her story and discusses her KevinMD article, “Having more doctors to assess rare, multi-system illnesses.”

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Transcript

Kevin Pho: Hi, and welcome to the show. Rate and review at kevinmd.com/rate. Subscribe at kevinmd.com/podcast. Today on the show, we have Heather Finlay-Morreale. She’s a pediatrician. Her KevinMD article is titled “Having more doctors to assess rare, multi-system illnesses.” Heather, welcome to the show.

Heather Finlay-Morreale: Thanks for having me. Nice to be here.

Kevin Pho: We’ll get to the article in a little bit, but first off, briefly share your story and journey to where you are today.

Heather Finlay-Morreale: I came into medicine a little late. I started medical school at 30, after pursuing some other career avenues. I come from a nonmedical family, so I was the first one to kind of forge ahead in this area. I did a lot of writing in med school, actually, and had some success with different contests and publications, and then my writing went dormant through peds residency at Tufts. Once I was an attending at UMass, I kind of picked up the pen again, and I have found that writing really helps me to kind of process what’s going on and express my thoughts and feelings. It’s been a real outlet for me.

Then a couple of years ago, I got sick, first with autoimmune small fiber neuropathy, followed by myasthenia gravis. Since then, most of my writing and advocacy is really based on the diagnostic odyssey that patients go through and the experiences patients can have with physicians.

Kevin Pho: So tell us about that odyssey a little bit. What are some things that you’ve learned? What are some things that surprised you during that odyssey?

Heather Finlay-Morreale: Well, surprisingly, even though myasthenia is in every board exam you ever take, as are Addison’s and several other rare diseases, because it’s rare, I think a lot of doctors think nobody has it. So when you’re sitting in front of them, they’ll say, “Wow, you know, this could be myasthenia, but it’s so weird, I’m sure you don’t have it.” I heard another doctor say, “Zebras are zebras, but they’re not unicorns.” There are in fact actual zebras out there, and so any given doctor is going to find a patient with a rare disease at some point in their career.

But what happened is that both the small fiber neuropathy and the myasthenia kind of hit multiple organ systems. You kind of learn as a doctor that when a patient comes in with complaints in all kinds of organ systems and you don’t know what the answer is, because of course you’re the doctor, you’re the smartest in the room, you should know the answer, and if you don’t know the answer, then it’s psychosomatic. So even as a doctor, it took two years to get my myasthenia diagnosis, despite being really symptomatic for a long time.

Kevin Pho: So tell us about your interactions with the health care system. You said it took two years before pinning down that myasthenia diagnosis. Tell us about those health care interactions during that time.

Heather Finlay-Morreale: Yeah, well, I would go to different specialists. I’d go to cardiology, and they’d say, “Oh, well, you have this cardiac thing, or you have this cardiac thing,” and then GI would see their little aspect of it. Each specialty sees its own little tiny silo, and there’s no one to really put the whole picture together. I mean, luckily, I myself was able to put the whole picture together and then find specialists in that diagnosis, but most people don’t have that opportunity. There are a lot of patients with multi-system illnesses who are really struggling to find someone to kind of pull all the pieces together.

If it took me two years with the best health care options possible, I can really see why a lot of people with autoimmune diseases take five, six, seven, eight, nine, ten years, and for the really rare diseases, the diagnostic odyssey can be decades.

Kevin Pho: Now, was there a primary care physician who could help you pull these things together?

Heather Finlay-Morreale: Not really. Once you get to be a certain amount of complexity, it’s kind of a hands-off kind of thing with the primary cares, I think. So no, not really.

Kevin Pho: So tell us about the path that actually led up to that diagnosis. Who actually made that diagnosis, two years into this journey?

Heather Finlay-Morreale: Yeah, interestingly, I had hired some help at home, some PCAs, and one of them was a fourth-year med student who was in, like, an in-between time in her training. I asked her to just film my eyes at the end of the day, because I would always talk about how at the end of the day I had blurred vision. So she did the whole eye exam on my phone, and then she just said, “Whoa, you have some serious googly eyes.” I guess they just kind of went all around, and that was actually the clincher.

Once my optometrist saw the video, he said, “Do you think this could be myasthenia?” So in the end, it was actually the optometrist who first brought up the diagnosis, and once that was brought up, my neurologists, I had more than one, just kind of went, “Oh, check, check. Actually, it explains everything.” So it was just this tiny, odd event that led to it.

Kevin Pho: So after a couple of years of seeing all the specialists, it was actually a medical student who was working with you who was kind of the tipping point in terms of making that diagnosis.

Heather Finlay-Morreale: Yep. Shout-out to Daria Santoro. She’s a great peds resident right now.

Kevin Pho: Now, for those who aren’t familiar with what myasthenia is, just give us a brief overview of what that is.

Heather Finlay-Morreale: It’s a muscle weakness disease. The nerve communicates to the muscle, but the acetylcholine doesn’t work. So I have, like, a little acetylcholine bucket, and by the end of the day, it’s all used up and I can’t use my muscles. In my case, it’s most severe in my breathing muscles, so when I get really weak, I can’t breathe. It’s kind of like being suffocated, actually. At the very beginning of this odyssey, I actually was at the ER in a myasthenic crisis, and they thought I was faking, and I actually almost died.

Kevin Pho: So what is a myasthenic crisis?

Heather Finlay-Morreale: It’s if all your muscles get so weak, and then at one point you can’t really breathe. Your diaphragm just stops breathing because you’re tired. So I went apneic, I think, a couple of times in the waiting room and passed out, actually, because I just was too fatigued to keep using my breathing muscles. So yeah, that’s a myasthenic crisis.

Kevin Pho: So you’ve learned a lot during your journey to the diagnosis of myasthenia gravis, and you talk a little bit more about this in your KevinMD article, “Having more doctors to assess rare, multi-system illnesses.” So tell us, how did this article come together?

Heather Finlay-Morreale: It was kind of percolating for a while. I’d go to all these different doctors and have this laundry list of problems. My problem list just kept getting bigger and bigger, but with no overall answer. And then, I think, once I finally had an answer, I have a very short problem list now, and I get treated entirely differently in the medical system.

Kevin Pho: How so?

Heather Finlay-Morreale: Because then you have something that’s in a textbook, and you’re interesting, and being interesting is a lot different than, I think, when doctors see a patient come in with a long problem list and a long med list and no overall explanation. You kind of just get the “Oh, someone is weak and dizzy all over. Oh my God, yet again.” You know, it’s a totally different reaction. I got a complete U-turn in how I was treated by new physicians.

Kevin Pho: So give us an example of that complete U-turn, like whether the demeanor changed or the tenor of the visit changed. How is it different?

Heather Finlay-Morreale: Yeah, well, at the time when I was at the ER in the myasthenic crisis, they told me that ERs can’t solve all people’s problems, and sometimes you have to go home and solve your own problem. And my problem was that I was suffocating to death. Now when I go, myasthenia is on the top of my problem list, and they get the respiratory therapist to come do the test to see how my breathing is. It’s believed that something serious could actually be going on when I have trouble breathing. So it’s an entirely different experience.

Kevin Pho: What does it say about our health care system that people with these long journeys to a diagnosis, complex multi-system diseases, have to see all these doctors but oftentimes don’t have an answer? What does that say about our health care system?

Heather Finlay-Morreale: I think the silos are not helpful, that each specialist kind of knows about their own little tiny geographic area. I don’t know what the solution to that is. I do think there’s a little bit of, well, a lot of these multi-system illnesses are autoimmune illnesses, which predominantly affect women. I think there’s a history of not listening to women who are in pain, or women who are tired and have a lot of different multi-system complaints, and so I think it just gets shoved to the side. I think that might be behind a little bit of the ignoring of this kind of illness.

Kevin Pho: And for those patients who may be undergoing that journey that you went through, what kind of advice do you have for them?

Heather Finlay-Morreale: It’s hard right now, because a lot of the community that has been connecting is on Twitter. There’s a really large undiagnosed community on Twitter, and imminently, it seems like Twitter might just go away. So there’s a bit of a struggle, because there’s a lot of crowdsourcing, sharing the names of doctors who are helpful. There are Facebook groups that also serve this population. The internet has really helped people to make connections and get diagnoses.

Kevin Pho: What would be the hashtag for this?

Heather Finlay-Morreale: There’s one, which is NEISvoid, which is “no end in sight void.” There’s also disabled, which is sometimes used, chronic illness, and then the specific diagnoses, like POTS or long COVID, things like that. So yeah, it’s a really vibrant community.

Kevin Pho: For those unfamiliar with what POTS is, what is that?

Heather Finlay-Morreale: Postural orthostatic tachycardia syndrome. A large number of people with long COVID actually have that. I have it from my small fiber neuropathy. It can affect multiple different systems, and if you’re not aware of the diagnosis, it might seem like a panic attack when in essence it’s a heart abnormality.

Kevin Pho: So this group of patients, because of their frustration with the health care system and the lack of a potential diagnosis, goes on Twitter. What would some of those discussions be like?

Heather Finlay-Morreale: There’s just lively talk right now in the long COVID community about clots, microclots, and there are a couple of labs in particular that are also in the discussion. Just this week, one of the labs from Europe came over to Harvard and taught the Harvard doctors how to look for microclots, and some of the biggest voices on Twitter for long COVID went to Harvard, got their blood tested for microclots, and then shared their discoveries.

People are testing different supplements for long COVID and POTS and sharing their experience with that. There’s a really common treatment called low-dose naltrexone, which has been pretty successful for autoimmune, neuro-type illnesses, so people share their experiences with that. You know, these are things that your average PCP hasn’t heard of, because they’re really pretty cutting edge.

Kevin Pho: Anything else patients can do to help with their diagnostic journey? Any specific questions that they could ask when they interact with the health care system?

Heather Finlay-Morreale: One thing I tend to think is that doctors want to see something in a lab or something on a physical exam. So I usually tell people to focus on whatever symptom of yours can be seen physically or on a lab test, because if you kind of go in with “I’m really tired,” even if that’s your worst symptom, you’re not likely to be super successful in getting help for it. But if you say, like in my case, “I have blurred vision and double vision at the end of the day,” that would kind of clinch the deal. That’s something they can test. So go with the more objective, unusual, or really discrete findings first, because that may be the clue to the overall illness.

Kevin Pho: Now, in an ideal world, it would be the primary care physician, whether it’s a family physician or an internal medicine physician, who would pull all this information from all the specialists and hopefully come up with a unifying diagnosis. Obviously, that’s an ideal world. But what kind of advice do you have for us when we encounter patients who don’t have a clear diagnosis and have seen multiple specialists? What kind of questions can we ask these patients to become better in the exam room?

Heather Finlay-Morreale: I think one thing that is hugely helpful is just validating the patient and listening, that what is happening is real and that there is something wrong. You might not know the name of it yet, and you might not have a treatment yet, but they’re not making it up, and it’s not in their head. That alone is hugely helpful.

Kevin Pho: Maybe some things that you would hear physicians say that would invalidate a patient’s complaints?

Heather Finlay-Morreale: I heard in a group just today that they were told, “Well, you’re a woman, and all women get fat and tired as they age.” So that would be an example of what not to say.

Kevin Pho: So there was someone in a group who had a physician say that to them?

Heather Finlay-Morreale: Yes, which is not helpful. I think if you’re starting to get a little bit weary in general of just patient after patient, I mean, it’s a rough time right now, when you go into the room, even if you’ve seen this patient many times before, just kind of wipe the slate and have an open mind when you go in. Just listen curiously, and you may hear something different or put something together that you didn’t the other two, four, five, six times you’ve seen that patient.

So it’s really going in open-minded, without any groaning or negative feelings you might have, and just really listening to the patient, and then believing what they say, and then thinking about it. If you need to, ask your attending. And then you can still help a patient even if they don’t have a diagnosis. If they’re really nauseous, you could treat that. If their thyroid is off, you can treat that. You may not necessarily know the ultimate explanation for everything to be able to help with the tools that you have.

Kevin Pho: Now, you mentioned earlier that a lot of your work now is in the advocacy space for rare multi-system illnesses. So tell us about some of the work you’re doing.

Heather Finlay-Morreale: I worked a little bit on one of the Capitol advocacy days for the Muscular Dystrophy Association, and I’m also working with the medical school here at UMass, specifically on integrating content on the disabled into the regular curriculum. Rather than having a “here’s one day where you learn everything about disability,” it’s kind of as the students go along, learning about the different variants of normal. That’s something I’ve been really involved in. And you know, it’s kind of shocking, for an occupation focused on sick people, how little we’re taught about disability.

Kevin Pho: So what are some of the things that you teach these medical students?

Heather Finlay-Morreale: Well, always listen and believe, and that usually patients with disabilities know more about their disability, perhaps, than you do. Really basic things, like not making assumptions. When you go into the room and someone’s in a wheelchair and has an augmentative communication device, don’t assume that they’re not mentally competent to take care of their own care. Don’t assume that they’re not sexually active. Don’t assume that they don’t smoke. There are a lot of assumptions that happen. I mean, if you see Stephen Hawking in a wheelchair, he’s not doing his own ADLs, but he’s got a lot to know about. So it’s the same thing: Wipe the slate and come in with no preconceived ideas.

Kevin Pho: And what kind of resources can physicians turn to if we want to learn more about this?

Heather Finlay-Morreale: It’s a little limited, but actually the New Hampshire Department of Public Health has a really great, short, and interesting video on working with disabled patients. They have a short clip of an exam room encounter gone horribly wrong. It’s just a train wreck. And then they have another clip of how to do it right. It’s short, it’s helpful, and you get CEUs. It’s great.

Kevin Pho: We’re talking to Heather Finlay-Morreale. She’s a pediatrician, and her KevinMD article is titled “Having more doctors to assess rare, multi-system illnesses.” Heather, tell us some of the take-home messages that you want the KevinMD audience to come away with.

Heather Finlay-Morreale: I think the main one is really simple: Listen curiously to your patients and believe what they tell you.

Kevin Pho: Heather, thank you so much for sharing your story, time, and insight. Thanks again for being on the show.

Heather Finlay-Morreale: Thanks for having me.