I embrace
my sickle cell disease.
But I don't really let it define me
as of what I could do and what I am capable of.
On the outside, I look fine and I look normal.
But on the inside
I'm not.
Most people don't know what it is
or understand.
Sickle cell is
it's very hard to put into words, what it actually feels like.
Those words really do not exist.
Sickle cell can be alienating.
It's a condition that forces me to reexamine
everything about my life
and how I accomplish those things.
I was hospitalized like once every two weeks,
had already had my hips replaced,
I had been in liver failure.
I felt like there was no way
that I could keep surviving
with sickle cell and be happy.
That's how I was feeling at 19.
Sickle cell is excruciating.
Sickle cell is life-threatening.
Sickle cell is strength
when it's perceived as weakness.
In middle school, I did a science project
and I looked up sickle cell
and I found the life expectancy was 42 years old.
When I saw that stat,
my stomach dropped.
You come across a lot of information that
it's heavy information.
To stay sane,
you kind of have to just put it off to the side
and you say that's not for me,
that's not my statistic.
And just keep living your life.
Within the sickle cell community,
a lot of us are left to navigate
this complex genetic disorder.
And that's that's really hard.
Imagine your doctor discovering
that you have
a life-threatening disease,
but then telling you
that there's no reason to panic
because they can fix it simply
by editing it out of your genes and DNA.
Are you daring to say there's a cure for sickle cell anemia?
You know, sickle cell in the mainstream is huge.
It's big for us.
New treatment for sickle cell anemia
uses the power of gene editing.
The evolution of gene therapy
has always included
consideration of sickle cell
because it's a fairly simple monogenic disorder.
Red blood cells are like a disc,
almost like a frisbee, if you will.
And in sickle cell disease, what happens
is the hemoglobin molecules inside that cell
snap together like Legos.
And when they do that,
they can change the shape of that cell
from a frisbee to a more sickle form,
a banana shape or curved shape,
which is what the disease gets its name from of course.
Because the red blood cells
are that crescent shape,
they don't live as long
and they don't carry oxygen very well.
A shortened red blood cell lifespan
results in a cascade of events
occurring in the body.
Chronic anemia, severe pain, strokes, fatigue,
decreased lung function, kidney function,
heart function.
And ultimately for the adults,
a decreased lifespan.
In the last decade,
there's been an explosion
in the options to cure sickle cell disease.
The science is as elegant as it gets in human's work.
That you can take somebody's cell,
fix that person's cell,
put that cell back into that individual
and they're going to be cured of that disease.
That is just a beautiful concept that we all
dream about.
This is a completely new way
of thinking about sickle cell,
and engaging patients in these conversations is so important.
That discussion is not a four-hour discussion.
That discussion is over years
because it's experimental therapy
and the information is evolving.
There's a role for this
expensive, more scientifically amazing
curative type therapies.
But also we must focus on eliminating the disease
burden in a broader population.
Within the U.S., there's
100,000 people living with sickle cell disease.
Globally, there are around 20 to 30 million people
living with sickle cell disease.
Sickle cell disease
has Sub-Saharan Africa as its epicenter,
as well as the Middle East, India, and countries
around the Mediterranean
because of the high density of malaria.
Individuals who had sickle cell
trait were protected
from developing life-threatening malaria.
And so as a result of evolutionary pressure,
these are the regions
that have the highest density
of sickle cell disease.
And then because of forced migration, enslavement,
you have populations
with sickle cell disease all over the world.
The reality is the majority of children and adults
with sickle cell disease
do not get the level of care that they need.
Even in high-income countries.
You can't identify a more strident example
of health equity
than how the health care system treats individuals
with sickle cell disease.
They are the canary in the coal mine for health equity.
When you get down to the lived patient experience
of being in a hospital and essentially
being triaged
as though your
your pain is not real, that is a whole
other condition into itself.
I have a PhD from Duke.
I have to actually dress up in my Duke gear.
Not the I can buy this at Walmart shirt Duke gear,
but that I know that somebody in the medical
facility knows they must have gotten that on campus.
Just to be treated, like, you know,
like I know what I'm talking about.
Racial disparities are a huge part of the conversation.
I get the feeling I actually know we'd be further
along if, you know, it wasn't a thing.
Sickle cell is the
oldest described molecular disorder.
There have been disorders discovered
after the fact
that have more treatment options
in terms of research and care.
For decades,
there was no disease-modifying therapy.
We were just watching individuals
with sickle cell disease
come to us with acute care needs.
Over the last 20 years, a standard approach has been
match-related donor myeloablative transplant,
and the challenge has been
that most adults cannot tolerate the toxicity
associated with myeloablative chemotherapy
and you have to have a perfect match.
And then in the mid-nineties
there was a therapy referred to as hydroxyurea
that was demonstrated
to decrease the rate of pain, the life-threatening
complication of the lung
and the rate of transfusions.
This was a real breakthrough.
Hydroxyurea does many things,
but essentially it raises your fetal hemoglobin.
When the mother is pregnant,
this is the type of hemoglobin
that is used to carry oxygen throughout the body.
After a baby is born,
that fetal hemoglobin switches off
and adult hemoglobin kicks in.
And that's where sickle cell kicks in.
The induction of fetal hemoglobin by hydroxyurea
interferes with the polymerization
of sickle hemoglobin
and therefore interferes
with the cell shape change
we see in the red blood cell to that sickle form.
And as a result, downstream,
the red blood cells live longer
and the risks also go down.
The other part of the story,
and what's being researched today,
is increasing
fetal hemoglobin through gene therapy.
Many are celebrating the early successes
of gene therapy.
It is certainly something
that has given many families great hope,
but it's always important to be sure
that we are being transparent about what we know.
Gene therapy is not without risk.
It still requires that the patients undergo
myeloablative chemotherapy
to make space in the bone marrow
for these corrected stem cells.
Chemotherapy is associated
with a number of complications,
including a risk of cancer and infertility.
What I hear from adults is
I really don't want to be infertile.
I really want a lot of children,
but I don't want to die from this disease.
And so
it's a conversation about risk benefits.
And I think it's incredibly personal.
There's a lot of excitement in the community
at the potential of innovation
and what it could mean.
But there's also concern.
We definitely want to make sure
we fully understand those risks and
and what the impacts may be for
our lives beyond the treatment itself.
Things are changing within the landscape
for the better.
I firmly believe
that we have to be able to provide
multiple options
for a disease that is so multifaceted.
We need all of these issues addressed
in tandem with each other, right?
So that nothing gets left behind.
When you have all the information
that you need,
you're able to think about what's best for you
as an individual patient.
I think that's the most important part.
The thing that keeps me going is my family
and just who I am.
I feel like I just always tell myself,
don't let myself just completely fall down
and don't let myself just completely not make it.
[No]
[We we play it like that at school]
[We're not going to do that]
Individuals with sickle cell disease
are whole people.
I think now that, thanks to advances
of science
and the resilience of the community,
now that we are surviving
well into adulthood, we're realizing that
survival is no longer enough.
We have to go
the extra mile to make sure people understand
and that's just what it is.
As long as people have all the information,
then we can say we've done our job.