all right how are you feeling today hey
guys I'm ready to sign 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 I've stumbled upon and
kind of figured out and 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 then you go in
to practice medicine for let's say five
ten years or longer and you've got
decades of medical knowledge in it and
it's very tempting to think oh I know a
lot I know at 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 oh it's our
that you don't know what they have right
off the top of your head because they're
rare any one conditions 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 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 it'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 what as
physicians were often taught not to
admit that you don't know something or
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 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 want to hear and
want from their physicians so that's
that's the first point this
what 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
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 want to make sure you
you avoid making mistakes just because
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 is that 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've
spent 45 minutes maybe 50 minutes on the
phone and your problem 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 person that they're
seeing and the first thing that you can
do in terms of helping however you can
it's very helpful to empathize with that
and say hey you know I recognize I'm
looking 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 what we're gonna do today is
try to go through all the things you've
heard and sort out kind of fact from
fiction and make a concrete plan as to
what the next steps are going to be so
I'm 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
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 console is helpful great thumbs up
if it wasn't then we're gonna figure out
what the next step is gonna be together
so you're not out in the cold oftentimes
it can feel like you know patients can
feel like they're there out on the
street on a rainy day and all the doors
are being slammed in their face and they
have no real medical home know where 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 it 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 you can
certainly advocate and this goes across
domain so you can advocate maybe with
their school and say hey look this this
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 let's get a consult service to
take care of them and bring them in
patient to figure this out more quickly
or you can advocate maybe with the in
some cases pharmaceutical company a
regulatory agency and say look there's
an off-label medication we'd like to use
but we've got to solve this paperwork to
make it happen you can be an advocate by
doing those things so in lots of ways
you can help however you can without
having the final answer of what their
diagnosis is there's lots of other stuff
that that a lot of physicians can do
because their physicians a lot of doors
will open for you that won't open for a
patient or family 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 oftentimes there is
not a lot of kind of published data on
it Anakin
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 you know player of 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
accidents in other countries in 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 in a couple other groups one is
foundations a lot of foundations exist
for more rare conditions or disorders so
reaching out to those foundations you
know there's a lot of individual
foundations that are there kind of
umbrella foundations for example the
National Organization for rare disorders
Nord is a it's kind of a an umbrella
foundation that they can kind of put you
in touch with other smaller foundations
so reaching out to foundations and
saying hey we have this condition now
maybe once you get the diagnosis let us
let us get some help put us in touch
with the right clinical team and maybe
even other families and that's the third
kind of group 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 say hey we need help with this
keeping in mind families are the ones
that are most affected by these rare
disorders they're the most invested in
trying to figure out solutions for them
so reaching out and getting information
and expertise from families is it very
very helpful so I wanna also now kind of
tie this together with a quick story I
had in my clinic two years back a young
boy had fevers muscle aches weight loss
rashes and he was kind of going
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 in my
clinic and I say asked my team and they
drove for hours to come and see me and
for hours backs 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 it's gonna be
valuable for them like 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 genetics
metabolism they were seeing me
infectious diseases they'd 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 consults
services it's in another state and we'd
like to reach out to them and so I said
okay great let's let's get him on the
phone and so they couldn't get into that
clinic because there were a number of
kind of 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 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 they're like oh absolutely we'd
love to see this family it sounds like
one of our cases 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 for me you know I
actually looked it up online and I
wanted to see how 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 it
kind of summarized some of these points
because I obviously had to be very
humble 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 is what ultimately helped this
family so this kind of summarizes all
three of those points but in other
situations it's been two or one of those
points 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 pleasure taking
care of families with rare conditions
and disorders I certainly learn a lot
from that and I hope you found this
useful in your own clinical training
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