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