[music]
If you ever touch a butterfly and you look at your finger you might see some dust.
That's actually the scales from their butterfly wings. Any touch or rubbing of my skin can cause
a blister or the skin to tear so it's very sensitive just like a butterfly's wings are.
[music]
My name is Paul Martinez, and I have Epidermolysis bullosa, which is also known as EB. I grew
up in Stockton, California. The majority of my family is here, and, um, it's been pretty...it's
an OK place to live. [laughs]
[background music]
Epidermolysis bullosa is a family of inherited blistering skin diseases characterized by
skin fragility, often blistering and scarring, um, with an increased predisposition to both
infection as well as, um, developing certain skin cancers in some subtypes.
The underlying cause of EB is the absence of a particular protein that is holding the
skin together so that, uh, you, you can think of it as like a molecular glue. When you talk
to the patients with this condition and the families and the caregivers, uh, you just,
it just breaks your heart.
It's very frustrating for the patient, the family. It's also frustrating for the physicians
and, and the other members of the medical team because we can't cure the disease.
[background music]
A lot of EBs, you know, they're in wheelchairs or they have g-tubes to help eat. They're very
small and fragile. And where it relates to me, I do have problems swallowing and eating
sometimes, but I get di dilation surgeries to help open my throat. I was actually born
with normal hands, but over time they, they curled up and fused together into like a ball.
So it makes it very difficult to do basic things in life.
On Mondays and Wednesdays and Fridays I do, uh, bandage changes, which my mother helps
me with. That process can take anywhere from two, two and a half hours. It's a very tedious
and grueling, uh, process. My mother is definitely my rock. She does, you know, everything for
me, and there's no way that I could pay her back for that.
[background music]
The word "Pain" itself doesn't even describe how bad EB is. Your body is constantly on
fire. It burns from the wounds from raw flesh and it keeps repeating over and over and over.
The cycle is neverending. Pain is my life. It's, it's my reality. It's, it's my normal.
In a weird way it's like my best friend.
We've known each other since day one of life. If anyone has a legitimate excuse to take
pain medication, it would be people with EB. And one of the reasons why I don't take it
is because I'd rather, I'd rather feel the pain to not feel nothing because the day that
I feel nothing, to me, is the day that I know there's something seriously wrong.
[background music]
What we hope to be able to achieve and what we've been working at Stanford, uh, to achieve
is delivering a normal copy of the gene to EB patient cells and then using those cells,
which are now expressing the normal gene, to make skin tissue and put that back on the patient
I got six graphs done. I go back to Stanford about every three months to get them checked
to see how they're doing and, at this stage, just to see if everything is looking good
so far.
"Why me?"
I used to ask that question every single day of my life since the day I was
born.
There is no second that goes by that I know what normal feels like. When I was born, you
know, I wasn't even expected to live. Um, you know, they said my last prayer over me,
a priest in the hospital, but I'm 32 years of age. In terms of EB, that's pretty old.
We do believe that the insights that have been gained from this first phase one trial
will inform the next step of research. We can start to see on the horizon the potential
to really make a difference for patients affected with EB.
[music]