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Something not right, she thought.

Addison and Cassidy Hempel, her identical twins, shared a crib, sleeping side by side on star and moon sheets, in a room painted yellow, toys everywhere. Most mornings, Ms. Hempel and her husband, Hugh, woke to the girls chattering Canada Goose online over the baby Canada Goose Jackets monitor.

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The winter the girls turned 2 marked an end to all that. The twins first had fevers and vomiting. The pediatrician found their spleens were enlarged, and she treated them for mononucleosis. After the mono was gone, their spleens remained abnormal. Their parents took them to a children Canada Goose Coats On Sale hospital at Stanford University. Tests there canada goose replica found nothing.

Friends tried to be reassuring: The girls were born five weeks early, they said, maybe they had a developmental delay. Or, they were taller than average, perhaps this explained their awkwardness.

The twins got another virus when they were 3 years old. This time, their livers were enlarged, and the doctor suspected something called a lysosomal storage disease.

Ms. Hempel learned these diseases included more than 50 inherited buy canada goose jacket cheap disorders, marked by the failure of cells canada goose clearance sale to process and recycle waste. The materials accumulated in cells, eventually triggering a range of problems, including seizures and dementia.

Tests, again, revealed nothing specific. Doctors ordered a skin biopsy to test for a particularly rare disease called Niemann Pick Type C. There are an estimated 500 cases of NPC disease diagnosed world buy canada goose jacket wide, mostly children. It gradually steals mobility, speech, the ability to swallow. Patients who take ill as children rarely live beyond their teens.

looked at the statistics of it all, canada goose black friday sale and we said, are the chances? holding out hope that it wasn NPC, Ms. Hempel said. in my heart, I knew. Hempel Canada Goose sale cried inconsolably. For three months, she needed pills to sleep.

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The more Ms. Hempel learned, the more upset she became. Some labs were testing different compounds, but the work was at its very early stages. At this rate, she said, won be any drugs in time for the girls. But they knew how to work and how to win.

As teenagers, they each pursued sports. Mr. Hempel lived in Denver, where he played hockey. He grew to 6 foot 4 inches and joined the University of Vermont team as a freshman. He quit to have more time to study engineering and business. Outside class, he waited tables to pay his way through school.

Mr. Hempel view of medicine was shaped by his grandfather, a plastic surgeon. The older man would sometimes stitch up his grandson after games, and Mr. Hempel remembered the plaque on his grandfather wall: Welcome To Go Get A Second Opinion. Hempel was the shooting guard on the basketball team at Mills High School in Millbrae, a Northern California town. Sports were a way out canadian goose jacket of a difficult childhood. Her parents married when Ms. Hempel mother was 17, canada goose coats on sale and they divorced when Ms. Hempel, Canada Goose Parka the youngest of four children, was 7.

High school friends canada goose recall Ms. Hempel as popular and pretty, with blue eyes and long, jet black hair. She devoted her time to playing basketball and studying game tapes. Her obsession was winning a college scholarship.

In high school, Ms. Hempel moved in with her father, who let her practice three point shots at all hours. She made the all state team and won a scholarship to Canada Goose Outlet the University of California, Berkeley. In college, she studied political science and broke records for three point shooting.

She joined Netscape in 1995, employee No. 132, a low badge number that carried status in Silicon Valley, along with generous stock options.

Ms. Hempel helped run Netscape PR department, forging a tightknit group of women there. Selling the World Wide Web barely left time for lunch. When they had a break, the women ran Dish, a hilly route above Stanford University named for the radio telescope at the summit.

Do something first, apologize later, cheap Canada Goose was the Netscape way. Ms. Hempel colleagues said she was a good fit. starting time, Ms. Hempel refused, saying her morning workouts made her more productive.

Mr. Hempel also joined Netscape in 1995 No. 161, in charge of electronic marketing. He sold one of the first banner ads on the Internet, a deal with Visa and MasterCard.

They were only work acquaintances until a late night party at the house of Mr. Hempel boss. Someone suggested hiring a limousine to take everyone dancing. In the hired car, they sat side by side. Ms. Hempel said she felt a jolt when they touched and was certain he felt it, too. They married in 1999, and a business magazine noted the couple sent their invitations by email.

The Hempels didn know that they each carried a Canada Goose Jacket gene mutation that in their twins yielded the NPC disease.

When the girls were diagnosed, were in a state of shock, Ms. Hempel said. She was 39 years old; her husband was 49.

The couple discovered online a small community of families, researchers and doctors linked by NPC disease. Ms. Hempel created a blog to post medical updates about her girls and to share scientific papers. She tapped into a stream of discontent flowing through chat groups and patient sites, complaints that science moved too slowly to keep up with the symptoms progressing in loved ones.

The Hempels learned of people who called themselves citizen scientists. Many shared research papers and their day to day experience. Some talked of their willingness to try any promising drug. Others sought a canada goose clearance role as equal partners with researchers.

Scientists, while sympathetic, generally believe their work should be left to experts. Families are encouraged to raise money if they want to help, but the traditional view is that amateurs can’t shape research or find cures.

The Hempels found a maddening gap between the search for scientific knowledge and the search for treatments.

Scientists aren villains, Ms. Hempel said, but too many are hobbled by https://www.thecanadagooseoutlet.com secrecy and rigid tradition. bottom line is their work does not translate fast enough to help Addi and Cassi and the other NPC kids, she said.

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