What the enzyme is designed to do is to replace the enzyme that's missing or defective in people with Pompe, it's designed to get to muscle cells, including the heart, which is a cardiac muscle, to get to the diaphragm, which is involved of course in breathing, and restore muscle function as best as it can.

John Crowley

Categorized in : Health

She had always lived her best life in dreams. She knew no greater pleasure than that moment of passage into the other place, when her limbs grew warm and heavy and the sparkling darkness behind her lids became ordered and doors opened; when conscious thought grew owl's wings and talons and became other than conscious.

dream wings doors

There was after all no mystery in the end of love, no mystery but the mystery of love itself, which was large certainly but as real as grass, as natural and unaccountable as bloom and branch and their growth.

branches growth real

Learning to decipher words had only added to the pleasures of holding spines and turning pages, measuring the journey to the end with a thumb-riffle, poring over frontispieces. Books! Opening with a crackle of old glue, releasing perfume; closing with a solid thump.

glue journey book

Violet said nothing, though big pearly tears, like a child's, trembled at her lashes. She suddenly missed John very much. Into him she could pour all the inarticulate perceptions, all the knowings and unknowings she felt, which, though he couldn't understand them really, he would receive reverently, and out of him would come then the advice, the warnings, the clever decisions she could never have made.

knowing clever children

God, he thought, her eyes are so bright, flashing, deep, full of promise, all those things eyes are in books but never are in life, and she was his.

eye book promise

Stories last longer: but only by becoming only stories. by John Crowley

Stories last longer: but only by becoming only stories.

becoming lasts stories

First, she wanted to taste the sweat that shone on his throat and fragile clavicle; then he chose to undo the tails of her shirt, that she had tied up beneath her breasts; then, but then impatient they forgot about taking turns and quarreled silently, eagerly over each other, like pirates dividing treasure long sought, long imagined, long withheld.

pirate sweat long

It was anyway all a long time ago; the world, we know now, is as it is and not different; if there was ever a time when there were passages, doors, the borders open and many crossing, that time is not now. The world is older than it was. Even the weather isn’t as we remember it clearly once being; never lately does there come a summer day such as we remember, never clouds as white as that, never grass as odorous or shade as deep and full of promise as we remember they can be, as once upon a time they were.

white summer weather

Just as a lamp waved in darkness creates a figure of light in the air, which remains for as long as the lamp repeats its motion exactly, so the universe retains its shape by repetition: the universe is Time's body. And how will we perceive this body? And how operate on it?

universe body

'Love is a myth,' Grandfather Trout said. 'Like summer.' by John Crowley

'Love is a myth,' Grandfather Trout said. 'Like summer.'

summer winter love-is

The further in you go, the bigger it gets. by John Crowley

The further in you go, the bigger it gets.

esoteric-wisdom bigger

Well, do you do that consciously?" Daily Alice asked, only partly of Cloud. "Do what?" Cloud said. "Grow up? No. Well. In a sense. You see it's inevitable, or refuse to. You greet it or don't -- take it in trade, maybe, for all you're going to lose anyway. Or you can refuse, and have what you've got to lose snatched from you, and never take payment -- never see a trade is possible.

growing-up said clouds

The things that make us happy make us wise. by John Crowley

The things that make us happy make us wise.

inspiring happiness inspirational

Seeing a woman's child is like seeing a woman naked, in the way it changes how her face looks to you, how her face becomes less the whole story.

naked children looks

We'd never heard of Pompe disease. Aileen and I are silent carriers … but it doesn't manifest until you have a baby with somebody else, and even then, there's only a one in four chance, so for us, the odds were very low.

health

Those were six weeks in the ICU that we'll never forget, but she fought through it, and I realized that that fight in her eyes -- that she didn't want to give up -- and we knew then, that if she wouldn't give up, then we wouldn't either.

health

We didn't know that we could change the course of their disease, but we wanted to never have any regrets that we didn't try to do everything we could, ultimately, that's what we did, was to help move science forward and bring attention and resources to the disease.

health

I've met many moms and dads who continue to be not just great champions and advocates for their children, but tremendous entrepreneurs and having that patient perspective is so vital, i think having that patient perspective is probably what sets Amicus apart from our peers. Many great biotch companies are patient-focused, we try to do it to an extraordinary level here.

health

I had no idea how to run a biotech company, knew nothing about science, but was quickly immersed in that world.

health

The bottom line is, it's a great script and that's very inspiring and makes you want to overcome whatever technical difficulties you come up against.

difficulties great you want