Name: 奇蹟科技可逆轉失明 (A Miracle Tech Could Reverse Blindness)
Uploaded: 2021-01-14T08:54:24.000Z
Duration: 9 min 40 s
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a devastating from of childhood blindness.

程度副詞

Gene therapy is really, I think at the forefront

Having to make a decision on his behalf has been

this could stop a truly terrible disease.

childhood blindness, this is going to be a real breakthrough

in our ability to change the course of the disease

Maverick is my firstborn child, he has been

I didn't have a lot of experience with babies

Checked his tracking vision and it was non-existent.

and it came back positive for Leber's congenital amaurosis

The cones and the rods in the eyes don't allow for

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

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.

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.

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

We deliver this virus with a very fine needle

underneath the retina and then we have a healthy copy

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.

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

We have data that the treatment effect is stable

Five years ago, there were no treatments for this disease

and for the bulk of retinal generations, these patients,

with genetic testing but beyond that, there wasn't much

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

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,

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?

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奇蹟科技可逆轉失明 (A Miracle Tech Could Reverse Blindness)

constantly

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essentially

perception