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  • 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.

Defects in retinal genes cause

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B1 maverick gene retinal blindness genetic vision

A Miracle Tech Could Reverse Blindness

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    林宜悉 posted on 2020/03/07
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