Defects in retinal genes cause a devastating from of childhood blindness. Gene therapy is really,
I think at the forefront of treating retinal degenerations. There are now over 20 clinical trials addressing various diseases in ways that we didn't really think possible before. Come on. Having to make a decision
on his behalf has been a real struggle. This treatment could change our lives, this could stop a truly terrible disease. As we tackle the problem of childhood blindness, this is
going to be a real breakthrough in our ability to change
the course of the disease in a way we never thought possible. Maverick is my firstborn
child, he has been the most amazing child to raise from the day that he was born. I didn't have a lot of
experience with babies before I had him, but I just noticed that he had a blank stare. Checked his tracking vision
and it was non-existent. We went through all the genetic testing and it came back positive for
Leber's congenital amaurosis with a specific genetic marker of RPE65. The cones and the rods in
the eyes don't allow for light perception so he is legally blind with specifically low-light blindness. He also doesn't have peripheral vision or vision below his waste. It's almost tunnel vision. Ahh, I need a parachute now, help me! Up here is my room, and these are my pillows. This is my eye patch. It has to be the right
lighting for him to see. Once the sun goes down,
his world is very dark. We take him inside, turn on all the lights until it's time for bed. Maverick's condition is degenerative. There is no timeframe
of when the degeneration will take place, but
it is a well-known fact that he will be completely
blind in later years. It took his thoughts
quite some time to subside into sense of fire and
sulfur, a torched landscape. In December of 2017, the
FDA approved gene therapy for Maverick's specific
condition and so we went and talked to Dr. Nagiel
shortly after it was approved. Oh, mine goes right behind you. Maverick was six years
old when I first met him, and this family, for a
long time had struggled with getting a diagnosis,
and then we're very excited finally to hear that
there was a treatment. Luxturna is a gene replacement therapy whereby we're delivering
a normal health copy of the RPE65 gene to patients
who have two defective copies. This medication is a virus
which has essentially been modified so its only job is to deliver the genetic material. We deliver this virus
with a very fine needle underneath the retina and
then we have a healthy copy of a gene that's been missing in the cells that normally make it. Unfortunately with this disease, the cells that absorb the
light, the photo receptors, are constantly degenerating
and there gets to be a point where there simply aren't
enough cells to function even if we were to deliver that gene back. So it makes a lot of sense to treat earlier pediatric patients,
young patients when they have those cells there and
just need the normal copy of the gene to make the
protein functioning again. So treatment early in children
is really the way to go to achieve the best results. Here at Children's Hospital Los Angeles, we've treated 17 patients, so 34 eyes. We have data that the
treatment effect is stable without any loss in function. Five years ago, there were no
treatments for this disease and for the bulk of retinal
generations, these patients, if they were lucky, they got a diagnosis with genetic testing but
beyond that, there wasn't much that we could do aside from get the most out of the
vision that they have. Since the FDA approval of
Luxturna, that's really opened the door to not just
treating this relatively rare retinal degeneration, but essentially any retinal degeneration. This has been probably the
most difficult decision that I've ever had to
make in my entire life. It makes me very nervous
because it is so new, if it doesn't go well, it's my fault because I chose to do this to my child. I honestly feel like I hit the jackpot when I had Maverick. I don't know any other seven-year-old kid that could handle everything
that he has been through with such appreciation for life, you know? He is willing to do or try anything. All right, here we go. After today, our life could
potentially change forever. I love you.
I love you, buddy. He might go back home
and for the first time have fun with his friends by
the pool as it's getting dark, ride his bike at dusk,
go trick-or-treating, these are the sort of
improvements that really change a child's life
and the motor confidence that comes with ambulating and interacting with the environment in a way
that they couldn't before, I think really has life-long consequences. It takes seven days for the corrected DNA to be absorbed so at seven days, he could potentially see again. It just comes in very small
doses and it could take up to four months, they said. Maverick had his two
surgeries, and we are home. The first day that I really noticed that something was different
was riding in the car, and he said mom, I'm just looking outside and I'm seeing what is outside the window, like I've never been able
to see through the windows and it seemed so small but
it was really life changing for him to be able to
look out of a window. Okay, listen to me.
One more game of tag. Maverick, sit.
Ready? One more game. One, two, three, four,
five, I'm coming out! I see you guys! In the past seven years,
we don't even come in the backyard at night. This is a true miracle. You can not stop me! Okay, I've got Maverick. Willow, come here, get him. He has a whole new level of independence and he is ready to conquer
anything that is given to him.
