I
was
a
side
character
in
a
typical
Western,
strutting
around
the
saloon,
dodging
tumbleweeds
and
trouble.
Suddenly,
our
neurosurgeon
popped
up
behind
the
swinging
doors,
a
huge
grin
on
his
chiseled
face:
“It’s
time
for
the
surgery!”

“We’re
not
ready!”
I
yelled.
I
woke
up,
in
a
panic,
lying
on
a
hospital
bed
in
New
York
City.
Next
to
me
was
my
6-year-old
son
Riaan,
his
EEG
cords
falling
off
his
head,
his
frail
body
drowning
in
a
hospital
gown.
Thankfully,
he
remained
asleep.
Flushed,
I
ran
to
the
nurses’
station
and
begged
them
to
cool
our
room.
I
felt
like
I
couldn’t
breathe.

The
next
day,
on
April
21,
2026,
Riaan
was
scheduled
to
become
the
first
child
in
the
world
to
receive
a
first-in-human
gene
therapy
for
Cockayne
syndrome.

Cockayne
syndrome
is
an
ultra-rare
genetic
disorder
that
causes
progressive
disease
and
early
death.
It
was
not
included
on
our
prenatal
genetic
screenings.
We
heard
of
it
for
the
first
time
when
Riaan
was
diagnosed
at
15
months
old.
In
Riaan,
a
gene
called
CSA,
critical
to
DNA
repair,
transcription,
and
cellular
health,
does
not
function
properly.
The
gene
therapy
sought
to
deliver
a
healthy
copy
of
CSA
into
his
brain,
in
hopes
of
restoring
protein
production
and
halting
disease
progression.

When
Riaan
was
first
diagnosed,
we
were
told
his
life
expectancy
was
five
years
because
his
disease
was
severe.
He
was
born
small
(5
pounds,
6
ounces),
developed
cataracts
in
both
eyes
as
an
infant,
and
missed
developmental
milestones.
He
didn’t
gain
head
control
until
he
was
a
year
old
and
struggled
to
eat
and
grow.
Sometimes
it
took
an
hour
to
feed
him
just
two
ounces
of
breast
milk.
Today,
at
age
6,
he
still
fits
into
onesies
meant
for
an
18-month-old.

When
I
first
heard
the
diagnosis,
I
was
not
devastated
because
Riaan
would
be
disabled;
I
was
devastated
because
we
were
told
he
would
die
—
and
soon.
That
first
night,
the
grief
and
shock
were
so
overwhelming,
I
didn’t
see
how
my
body
could
survive
it.
But
I
did
wake
up,
and
the
weather
outside
of
my
parents’
Florida
home
was
so
sunny,
it
felt
obscene.

Riaan
has
always
been
happy,
social,
mischievous,
and
full
of
life.
When
he
was
diagnosed
at
15
months
old,
he
didn’t
look
like
a
child
facing
such
a
short
clock.
It
was
unsettling
that
the
love
between
my
husband,
Richie,
and
me
had
created
a
fatal
disease
in
our
firstborn
child.

After
the
unexpected
diagnosis,
I
couldn’t
bear
our
reality.
I
had
to
do
something
because
I
loved
Riaan
more
than
I’ve
ever
loved
anyone
before,
and
he
deserved
a
chance
at
a
longer,
healthier
life.

It
was
this
love
that
propelled
me
into
the
unknown
world
of
drug
development.
We
launched

Riaan
Research
Initiative
and
connected
with
scientists
who
understood
the
urgency.
Through
relentless
storytelling,
public
advocacy,
fundraising
campaigns,
and
generous
donors,
we
raised
$4
million
and
moved
the
therapy
from
concept
to
clinic.
The
mountain
seemed
impossible
to
climb,
and
yet
we
somehow
climbed
it.

Drug
development
is
not
a
9-to-5
job.
I
poured
years
of
day-and-night
work,
alongside
our
scientific,
clinical,
manufacturing
and
regulatory
teams.
I
especially
loved
the
review
period
following
the
submission
of
our
Investigational
New
Drug
application
to
the
U.S.
Food
and
Drug
Administration.
During
those
30
days,
the
FDA
sends
clarification
questions,
and
we
have
only
days
to
respond.
An
incorrect
or
unsatisfying
answer
can
lead
to
a
clinical
hold.
As
a
lawyer,
I
found
the
process
stressful,
high-stakes,
and
invigorating.
Then
came
the
exhilarating
email:
we
were
cleared
to
proceed.
In
thanking
the
team,
I
quoted
The
Count
of
Monte
Cristo:
“All
human
wisdom
is
contained
in
these
words:
wait
and
hope.”
We
had
done
so
much
waiting
and
hoping,
and
the
moment
had
finally
come.

It’s
quite
a
strange
thing
to
be
part
of
a
process
of
making
a
drug
for
your
child
from
scratch,
and
also
funding
its
development.
Yet
none
of
this
knowledge
made
it
any
easier
to
decide
whether
we
were
doing
the
right
thing
in
giving
it
to
him.

Richie
and
I
struggled
with
how
to
proceed,
and
the
agony
of
our
dream
finally
becoming
a
reality.
Riaan
now
had
advanced
disease,
and
the
prospect
of
benefit
was
less
certain.
He
was
also
happy
and
stable,
and
had
never
been
hospitalized
before.
Was
it
right
to
force
him
to
endure
getting
a
hole
drilled
in
his
head,
a
week-long
hospital
stay,
and
months
of
immunosuppression
despite
children
with
his
disease
being
more
susceptible
to
side
effects
from
anesthesia
and
medication?
Was
it
right
to
subject
him
to
the
unknown
consequences
that
come
with
a
first-in-human
gene
therapy?

Gene
therapy
is
not
without
its
risks:
patients
have
died
from
liver
failure
to
catastrophic
inflammatory
responses
to
cerebral
edema.
Immunosuppression,
required
to
prevent
the
body
from
attacking
the
gene
therapy
or
producing
a
dangerous
response,
is
no
walk
in
the
park
either.

But
this
was
the
chance
of
a
lifetime
—
both
for
Riaan
and
because
if
we
could
demonstrate
it
was
safe
for
Riaan,
we
hoped
it
could
provide
proof
of
concept
to
support
future
administrations
in
other
children.
After
all,
there
was
no
other
drug.
There
was
no
other
hope.

Gene
therapy
extended
lifespan
in
neonatal
mouse
models
with
Cockayne
syndrome
and
improved
their
quality
of
life.
But
Riaan
was
not
a
newborn
mouse.
He
weighed
22
lbs,
couldn’t
sit
independently,
stand,
walk,
feed
himself,
or
talk.
Could
we
make
that
scientific
leap
from
mouse
to
a
human
child?

Richie
and
I
spent
long
nights
on
the
couch,
sometimes
bickering,
feeling
the
burden
of
having
to
make
this
impossible
parenting
decision.

“Why
couldn’t
we
get
easier
parenting
choices?”

“We’re
also
one
of
the
only
parents
who
have
access
to
a
treatment
for
their
child’s
rare
disease.
That’s
a
privilege
we
shouldn’t
take
lightly.”

“Yeah,
but
what
if
it
kills
him?”

I
talked
to
families
who
had
walked
this
path
before
us,
and
they
were
incredibly
helpful.
Not
one
said
don’t
do
it.

We
were
also
conflicted
because
Riaan,
who
is
non-verbal,
could
not
consent
on
his
own.
We
have
had
six
joyful
and
intense
years
together
—
he
is
the
heartbeat,
the
shining
star
of
our
family.
He
loves
pulling
his
little
brother
Jivan’s
hair,
and
stealing
his
toys,
and
video
chats
with
Nani
Ji.
We’ve
even
traveled
to
Bermuda,
where
he
had
the
time
of
his
life,
swimming
in
infinity
pools
and
enjoying
the
pink
sand
beaches.
He
was
perfect
as
he
was.

One
day
I
asked
him
if
he
wanted
the
therapy
and,
if
he
did,
to
touch
my
nose.
He
immediately
touched
my
nose.
Usually,
it
took
him
a
while,
or
he
ignored
my
request.
I
took
that
as
a
sign.

Part
of
what
gave
me
courage
was
the
team
around
us
—
from
the
scientists
and
physicians
at
UMass
Chan
Medical
School
to
the
clinical
team
at
Weill
Cornell
and
so
many
more
who
felt
securely
part
of
our
mission
and
committed
to
Riaan.
Then
there
was
our
physician-scientist
advisor,
affectionately
known
in
the
gene
therapy
world
as
“Batman.”
He
was
available
at
odd
hours,
armed
with
scientific
literature
and
regulatory
knowledge,
helping
us
think
through
the
hardest
questions
as
dosing
day
approached.

I
called
the
researcher
I
trust
most
and
asked
him
to
answer
whether
he
would
proceed
if
Riaan
were
his
child.
He
said
yes
—
he
could
not
guarantee
anything,
no
one
could,
but
he
would
do
it.

We
decided
to
proceed.
Once
we
said
yes,
we
stopped
asking
“what
if.”
We’d
focus
our
efforts
on
the
procedure
going
well,
and
the
treatment
being
beneficial.

The
day
of
the
procedure
wasn’t
easy.
It
had
been
delayed,
and
Riaan
had
not
eaten
or
drunk
by
mouth
all
day.
That
evening,
as
he
was
finally
wheeled
into
the
operating
room,
I
thought
maybe
it
was
written
in
the
stars.
As
we
handed
our
firstborn
child
to
the
surgical
team,
we
felt
like
we
were
shepherds
of
Riaan’s
destiny
in
ways
we
couldn’t
quite
understand.
When
we
saw
the
actual
gene
therapy
we
had
made
—
Riaan’s
AAV9
dose
in
a
ziplock
bag
—
we
finally
understood
the
significance
of
the
moment.

Riaan
clung
to
us,
crying.

Richie
gently
lowered
him
on
the
operating
table,
and
the
anesthesia
team
placed
a
mask
on
him.
Our
brave
lion
quickly
went
under,
and
he
looked
peaceful,
yet
fierce,
in
his
Simba
sweater,
to
execute
a
mission
no
child
should
ever
have
to
undertake.
We
told
him
we
loved
him,
and
that
we
were
proud
of
him.
I
said
a
prayer.

Richie
and
I
walked
back
to
our
room
like
zombies.
We
could
barely
move
or
talk,
or
even
look
at
each
other.
As
the
parent
who
had
driven
the
treatment
effort,
I
felt
the
heavy
responsibility
of
the
moment.
But
we
had
done
everything
we
could
in
the
face
of
this
cruel
diagnosis:
it
was
out
of
our
hands
now.

Once
I
received
the
alert
that
the
procedure
was
complete,
I
ran
full
speed
to
the
Pediatrics
Intensive
Care
Unit.
In
the
hallway,
the
surgical
team
told
me
that
Riaan
had
done
extremely
well.
I
wrapped
my
arms
around
our
gifted
neurosurgeon.
But
then
I
heard
Riaan’s
screams
from
the
room,
a
sound
I
had
never
heard
before.
Absolutely
terrified,
I
started
shouting
at
the
doctors:
“What’s
wrong
with
him?
What
happened?”
Everyone
told
me
he
was
OK;
he
just
needs
to
see
you.

My
first
glimpse
of
Riaan
reminded
me
of
“Frankenstein,”
when
the
monster
gains
consciousness.
My
beautiful
boy
looked
petrified,
and
there
were
multiple
wires
coming
out
of
every
part
of
him.
He
had
some
loose
gauze
on
his
head
to
cover
his
surgical
incision,
his
mouth
open,
gasping
for
water.
It
took
some
time
and
Tylenol
to
calm
him
down.

That
night,
he
slept
on
my
arm
—
a
restless
sleep
involving
neuro
exams
every
two
hours.
I
didn’t
dare
move
once,
even
fighting
back
a
vicious
sneeze.
But
the
next
day,
he
was
much
better,
smiling
and
playing
balloon
volleyball
with
us.
Physically,
he
was
OK,
and
the
team
monitored
him
closely.
A
few
days
later,
we
left
the
hospital
and
stayed
at
a
nearby
hotel
during
the
critical
monitoring
window.
Three
weeks
later,
we
finally
returned
home
to
Queens.

It
takes
months,
even
years,
to
determine
if
the
gene
therapy
has
benefited
him.
He
continues
to
be
monitored
closely
via
exams
and
bloodwork,
which
we
are
grateful
for,
but
also
find
challenging
and
exhausting
at
times.
If
there
is
clinical
benefit,
we
don’t
know
how
long
the
changes
will
last.

It
has
been
over
three
months
since
treatment,
and
Riaan
remains
clinically
stable.
These
days,
he
wakes
up
demanding
to
listen
to
his
favorite
morning
song,
“The
Circle
of
Life,”
with
a
big
smile
on
his
face,
ready
to
start
the
day,
play
with
his
brother,
and
go
on
outings.
We
have
our
happy
Riaan
back,
and
while
it’s
early,
we’ve
seen
encouraging
changes.
But
he
will
always
have
Cockayne
syndrome,
and
the
future
remains
unknown.

We
were
fortunate
to
manufacture
enough
drug
for
multiple
children,
and
look
forward
to
re-engaging
with
the
FDA
in
the
coming
months
to
gain
approval
to
treat
other
children
with
Cockayne
syndrome.
We
are
working
to
raise
funds
to
cover
the
clinical
costs.

While
we
were
fortunate,
parents
should
not
have
to
become
drug
developers
because
their
child’s
disease
is
too
rare
and
unprofitable
for
pharmaceutical
companies
to
pursue.
No
family
should
have
to
raise
millions,
learn
regulatory
strategy,
sit
in
manufacturing
meetings,
and
then
decide
whether
to
hand
their
child
over
for
a
treatment
they
helped
build.
But
because
of
love,
we
would
do
it
again
and
again
for
Riaan
and
for
the
children
who
may
come
after
him.

When
Riaan
was
first
born,
I
told
him
I’d
do
anything
I
could
to
protect
him.
This
miraculous
effort
is
my
love
letter
to
him.

Jo
Kaur
is
a
civil
rights
attorney
turned
drug
developer.
She
is
the
founder
of
Riaan
Research
Initiative,
a
patient
advocacy
organization
working
to
develop
gene
therapy
treatments
for
Cockayne
syndrome,
a
rare
and
fatal
pediatric
genetic
disorder.
Jo
began
the
organization
in
2021
after
her
son
Riaan
was
diagnosed
with
the
disease.
She
lives
in
New
York
City
with
her
two
children,
Riaan
and
Jivan,
and
her
husband,
Richie.

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you
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