Helping a patient with a rare disease
Definitions & Key takeaways
skipped for now; highlited in red; will get back to later.
All right. How are you feeling today?
Hey guys, I'm Rishi Desai, the Chief medical officer at Osmosis. And I want to talk to you a little bit about how I think you can be effective at helping patients with a rare condition or disorder.
And in my life, I've come to realize that there are a few things that I've um stumbled upon and kind of figured out that have helped and I want to share those things with you today.
So the first one is being humble or be humble. And the reason that this is so important is that, you know, there's this trajectory where you go to medical school and residency and fellowship and you get all this information in your head and you go and practice medicine for, let's say, 5, 10 years or longer.
And you've got decades of medical knowledge in your head and it's very tempting to think. Oh, I ii know a lot.
I know it all. And the truth is as much as you know, there's a lot more that you don't know.
Right. And so as patients come in with rare conditions, odds are that you don't know what they have right off the top of your head because they're rare.
Any one condition is rare and there's a lot of information about every condition. So it's, it's very unusual for someone to know a lot about everything.
So there's a good chance you don't know what they have and upfront just being honest about that and saying, look, I don't know what you have these symptoms you have.
I'm not sure what pattern that's following or what that condition could be. I don't know, but I'm willing to work with you to figure it out and I'm gonna stick this out with you.
I'm gonna be your ally. You know, patients really don't expect their doctors to know at all.
I think that's, um, that's a myth. I think what they do expect from their physicians is that they're gonna be there by their side.
And so just saying that being honest about that is very important and to do that requires a bit of vulnerability, you know, as physicians were often taught not to admit that you don't know something or, or to kind of build up this aura of perfection and really saying, no, that's not quite right.
I think that the more important thing is to, um, display some vulnerability, but also steadfastness and saying, look, I'm gonna be with you as we figure this process out.
And I think that's really what a lot of patients wanna hear and want from their physicians. Uh So that's, that's the first point.
The second point about being humble is there's actually this cognitive bias that we have, you know, we think common things are common.
And so you're kind of biased to always assume that even if something doesn't quite fit, it's probably the thing that you usually see.
And the downside to that bias is that you're gonna make mistakes, you're gonna have situations where you keep thinking that someone has a common condition and actually they have something that's quite rare and you're really not being uh very careful about that.
You're not doing your due diligence to track those other options down. So getting tests and confirming your diagnosis, sometimes people don't do that.
So that's the other piece is that you wanna make sure you, you avoid making mistakes just because you're, you're, you're blinded to the idea of things being outside of your normal everyday common practice.
So again, being humble about what, you know, number two, the second big idea is help however you can. So, you know, I'll give the analogy of an automated phone system.
You know, you often, I'm sure everyone has had this experience, you kind of call in and you get bounced around and you know, by the time you're on your fourth or fifth person that you're speaking to about a problem, you're very frustrated, you spent 45 minutes, maybe 50 minutes on the phone and you're still hasn't been resolved.
And so patients with rare conditions often are coming to the medical system like that. They've been bounced around.
They've seen lots of different clinicians who have told them different conflicting things and now they're seeing you and you may be their fourth or fifth uh person that they're seeing.
And the first thing that you can do in terms of helping you, however you can, it's very helpful to empathize with that and saying, hey, you know, I recognize I'm looking at your chart, I've seen that you've seen lots of people that can be really frustrating.
And I'm sorry if you've had the experience of hearing conflicting information, um What we're gonna do today is try to go through all the things you've heard and sort out kind of uh fact from fiction and make a, a concrete plan as to what the next steps are gonna be.
So just empathizing is a good first step in helping however you can, the next thing is taking responsibility and saying, look, the buck stops with me.
I'm gonna take responsibility for you. We're on a journey together.
We're gonna figure this out. I may not be the one that has all the answers.
And certainly, I don't expect every clinician to just have the answer for a rare condition. But, but it is important to take responsibility.
And so, for example, in my own life, I've had individuals come to me and I'll send them out for another consult, but then the key is I follow up with them and say, hey, you know, let's check in again in a few weeks and we'll see what happened if that consult was helpful.
Great thumbs up. If it wasn't, then we're going to figure out what the next step is going to be together.
So you're not out in the cold. Oftentimes, they can feel like, you know, patients can feel like they're, they're out on the street on a rainy day and all the doors are being slammed on their face and they have no real medical home.
Nowhere to go to feel like they're actually accepted and that someone's gonna kind of follow them on this journey. So just taking responsibility is really important and and kind of part and parcel with that is advocating.
So you may not have the exact diagnosis, you may not know exactly what to do, but you can certainly advocate and this goes across domain.
So you can advocate maybe with their school and say, hey, look, this, this um young young patient is missing school, let's figure out a plan for them or you can advocate maybe with the hospital and say, look, uh let's get a consult service to take care of them and bring them inpatient to figure this out more quickly.
Or you can advocate maybe with the, in some cases, a pharmaceutical company, a regulatory agency and say, look, there's an off label medication we'd like to use.
But we've got to fill out this paperwork to make it happen. You can be an advocate by doing those things.
So there are lots of ways you can help, however, you can, um, without having the final answer of what their diagnosis is, there's lots of other stuff that, that a lot of, uh, uh, physicians can do because they're physicians, a lot of doors will open for you that won't open for a patient or a family.
Um And a third is this idea of getting expertise. I can't stress this enough.
The idea is not that you just have all the answers, right? The idea is that you do whatever you can, you roll up your sleeves and you go find the answers, find the experts that might be able to help you out and with rare conditions, a lot of the information is in experts.
You know, often times there is not a uh a lot of kind of published data on a, on a condition and you really have to just call up people and say, hey, you see a lot of patients with this condition, what do you suggest we do or better yet?
Maybe you can just take over the care and I can be a secondary uh you know, player in the team. So finding that key expert and it can be a physician expert.
Sometimes, you know, I've had to find expert at experts at other institutions, even other countries calling other countries, you know, experts in other countries and saying, look, this is a pretty rare condition, but I've seen that you've, you know, seen patients with this, I'd love to get your help on this.
The other group of experts are and a couple of other groups, one is foundations, a lot of foundations exist for more rare conditions or, or disorders.
So reaching out to those foundations, you know, there's um there are a lot of individual foundations. They're, they're kind of uh umbrella foundations.
For example, the National Organization for Rare Disorders Nord is a, is kind of a an umbrella foundation. They, they can kind of put you in touch with other smaller foundations.
So reaching out to foundations and saying, hey, we had this condition. Now, maybe once you get the diagnosis, let us let us get some help.
Uh put us in touch with the right uh clinical team and maybe even other families. And that's the third kind of group of, of experts are our families, you know, individuals with the condition, their families are often very, very plugged into exactly what you need to do to take care of your condition.
So that's the other place that I would go to to to say, hey, we need help with this. Uh keeping in mind families are the ones that are most affected by these rare disorders.
They're the most invested uh in trying to figure out solutions for them. So reaching out and getting information and expertise from families is very, very helpful.
So I want to also now kind of tie this together with a quick story. Um I had uh in my clinic uh a few years back, a young boy had fevers, muscle aches, weight loss, rashes and he was kind of going.
Uh initially he was in school and playing sports, but very quickly he was missing school. He couldn't go in because he was fatigued.
So this is a very life changing event for this young man. And it happened over the course of a few months.
And so his family came to see us uh in my clinic and I say, ask my team and they drove four hours to come and see me and four hours back.
So that's an eight hour round trip and they did it over two days. So they're missing some work.
He's missing school, as I mentioned already. So it's a big event to come and see me for that short clinic visit.
So there's a lot of expectation that, that it's gonna be valuable for them, right? They're setting aside two days to do it and you know, they came into the office and I went through the chart.
They'd already seen, you know, uh genetics metabolism. Uh They were seeing me infectious diseases.
They had already also seen gi rheumatology, oncology. So a lot of other services had been involved.
And when they saw me, you know, the first thing they said is look, we really want another, a second opinion from one of these other consult services.
It's in another state. Uh, and we'd like to reach out to them.
And so I said, ok, great, let's, let's get them on the phone. And so they couldn't get into that clinic because there were a number of kind of um, uh blockers, let's say for families.
But because I was a clinician, I was able to kind of get right through. So in that clinic visit, I picked up the phone, we called the clinic, I spoke to the clinician on the other end and said, hey, this is the story.
Can you see this patient or, or do you think this is interesting to you? Maybe it's this condition that you're, that you're kind of a specialist in and, and they were excited and they were like, oh, absolutely.
We'd love to see this family. It sounds like one of our cases.
Um Please please have them make an appointment and we'll see him right away. So it was great, you know, they were able to see that clinician that clinician had expertise that I certainly didn't have.
And we took care of that in, in that clinic visit. We followed up afterwards.
And indeed, they ended up having that diagnosis. And so it worked out for them that they got a diagnosis, they figured out what they needed to do and it ended very well.
Uh for me, you know, I actually looked it up online and, and I wanted to see kind of more about it again, there wasn't much information.
So really we're relying heavily on the clinical expertise of the consult that we reached out to. So this is just a quick story.
Uh I kind of summarize some of these points because I obviously had to be very humbled right away and say, look, I don't know what you have.
This is interesting, but let's figure this out in terms of helping. However, I could, we made the phone call and getting expertise was what ultimately helped this family.
So this kind of summarized all three of those points. But in other situations, it's been two or one of those points.
Um and it happens more frequently than I would have guessed early on in my career. So anyway, I hope that was helpful.
It certainly has been a, a pleasure taking care of families with rare conditions and disorders. I certainly learned a lot from that.
And uh I hope you found this uh useful in your own clinical journey. Take care, start your free trial today at osmosis.org.
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