Curing Rare Disease Is Possible
[Music]
[Applause]
it is no longer acceptable
that 10 percent of our population will
suffer from a rare disease
and you are part of the solution
i’m the parent of a child with a rare
genetic incurable disease
my daughter michelle was born with
mucopolysaccharidosis type 1
or mps1 for short a disease that left
untreated
has devastating effects including
premature death
but thankfully with the advancements in
modern medicine
and the investment and courage of many
that have come before us
they figured out that a bone marrow
transplant would dramatically improve
the quality of my daughter’s life
so at 20 months old she received and
survived a bone marrow transplant
and her then almost four-year-old
brother was her bone marrow transplant
donor
but i’m not here to talk about the
complexities of my daughter’s rare
condition
or our family’s medical journey what i
want to talk about
is why you should care about curing rare
disease
and why it’s going to take more than
just investments in research
to cure rare and why and how
we are all part of the solution now when
i first put my talk together i used the
words rare disease community and rare
disease an extraordinary amount of times
so in an effort to simplify our
conversation i may just use the word
rare
so why should we all care about curing
rare
i care i’m a rare mom but the thing is
i’m not really that rare
over 10 percent of our population
suffers from a rare disease that is over
400 million people worldwide
that is more than the entire u.s
population
and it is more than the number of people
suffering from cancer and aids
altogether and half of these rare
patients
are children and for the children that
have a rare disease
three out of ten will not live to see
their fifth birthday
and with numbers this large chances are
you know someone with a rare disease
so this impacts you and yet
not one of these rare patients has a
cure
for their rare disease so how is it that
we can all be touched by rare disease
and yet there are zero cures
part of the answer to this question lies
in the fact that there are
in fact over seven thousand different
rare diseases
and having small patient populations is
certainly a challenge
in being able to develop distribute and
afford rare cures
but it is in knowing this challenge that
will help us recognize solutions
what i am talking about is identifying
what rare has in common
and solving these issues for example
if developing a rare drug yields a low
return on investment
then let’s be open to solutions that
drive down costs
and foster sharing wouldn’t it be great
to figure out a viable system
where we could repurpose drugs already
approved by the fda
and defray those development costs or
additional research dollars for gene
therapy
that may be able to unlock the door
to not just one rare disease but many
and in addition to zero cures five
percent
of these rare diseases have an fda
approved treatment my daughter was one
of the lucky ones
not only did she receive her life-saving
bone marrow transplant
but she benefited from something called
enzyme replacement therapy
immediately after she was diagnosed now
the
amazing part was that after
this innovative treatment went through
five years of clinical trials
this drug was approved one year before
she was born
now while my daughter’s disease has many
remaining challenges
there is no doubt that these treatments
improve the trajectory of my daughter’s
life
and the lives of those around her what
i’m talking about is
increased productivity curing rare
disease
will increase all of our productivity
it is said that you need to measure what
you want to achieve
but it is difficult to measure the cost
saves from a lifetime of medical
treatments that have been avoided
because we were able to cure rare or
the increased productivity of a rare
caregiver
because they are no longer tending to
the chronic conditions of a rare patient
or how about the increased productivity
of the rare patient themselves
when we think in these terms rare
disease is having a bigger
impact to our world collectively
and this is why curing rare matters
now when i first put my talk together
none of us had heard of the coronavirus
i was prepared to take us back in time
to the early 1900s when an entire
generation
changed the world and provided hope by
seeing so many people suffer from the
polio virus
it was having a big and scary impact on
society and they needed to find a
solution
the coronavirus is having a big impact
on how we get to live our lives
and while it cannot come fast enough we
will find a solution
but rare disease is having that same big
impact
and we simply do not have enough
solutions yet
so it was not just
important that the polio vaccine was
developed
it was the fact that it was made
available to everyone
that was important it was this action
that changed the trajectory
of the impact polio would have on our
world
today we take it for granted
that it is unlikely that anyone we know
will suffer from the polio virus
back then everyone had to have courage
to embrace
change and we will need to do the same
thing today
we need to go into our own unchartered
waters outside of our comfort zone
if we want to cure rare disease
now 15 years ago when i was set upon
this journey
i blissfully thought that my individual
actions
would be able to find a cure i figured
i’m goal-oriented i’m energetic i’m
willing to put in the work
i have a strong sense of purpose true
i’m not a doctor
or a scientist but i am a rare mom
i can do this i can raise enough money
and awareness
to cure mps one and make a difference
for my daughter
but what i came to realize are the
complexities and the challenges of
curing rare and while my voice
is very important it will not be the
actions of
one stakeholder or one person
it will take the actions of many
stakeholders who choose to work together
to bring about cures and then make them
available and this is why it’s going to
take more
than just investment in research
now thankfully there are many
stakeholders
invested in curing rare disease we have
the doctors the scientists the
researchers
the pharmaceutical companies the biotech
companies
but it’s going to take patients patient
advocates
the government in the form of public
policy
the fda the national institute of health
insurance companies and you
public opinion now each of these
stakeholders plays a really
important role in curing rare disease
but with so many stakeholders it is
inevitable
that we will have competing priorities
differing views on risk
and differences of opinion and sometimes
these get in the way
of having meaningful and productive
conversations
for example i’ve heard it said big
pharma is bad
but the thing is i need big pharma or
the government is slow
and i don’t want to pay any more taxes
but the national institute of health is
funded by our taxes
and it is one of the rare disease
communities biggest champions
i need the nih so while we may all agree
that we want to cure rare we may not
exactly agree
on how to get this done and that’s why
any solutions are going to require
tremendous
compromise maybe a compromise on access
to treatments
a compromise on what is a reasonable
rate of return on investment
or compromise on who ultimately should
have to pay
but once again it is just knowing those
challenges that all
rare diseases have in common that will
help us
find solutions we live in a very
exciting time
one punctuated with incredible
innovation and exponential advancements
in modern medicine and technology
and all of these things bring hope but
in the end
none of this will matter without a
collective change in mindset
we have to decide that it is no longer
acceptable
that 10 percent of our population will
suffer
from a rare disease so how can you make
a difference
well first of all i think you already
have
just by becoming more aware of rare
disease
i mean how could you possibly solve a
problem that you may not have even known
existed but now that you know
i’d like to leave you with four things
that you can do
when you are given the opportunity to
take action or make a decision
that will impact a rare patient’s life
number one curing rare disease
will involve taking risk we must be
willing to take
measured risk number two curing rare
disease will demand
that we have sustainable and patient
courage
this isn’t a one and done it’s going to
take stamina
and determination number three
it will take tremendous compromise and
number four
last but not least curing rare disease
will take the willingness to share for
the greater good
risk courage compromise and sharing
if you do your part no matter your role
we can all cure rare disease together
curing rare disease will absolutely
increase productivity
and it will certainly decrease suffering
yeah i need a solution and my daughter
needs a solution
but the people you care about need
solutions
a cure starts with awareness so thank
you for becoming
more aware of rare disease