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For Brooke Kendrick, there was never a decision to make.
Donating her embryos — the ones that carried a genetic mutation that stole her brother's ability to walk on his own — was a conclusion before it was a question.
It was a disease that also could kill any children she might have before they reached puberty — a genetic mutation that would break down the protective coating around their nerves, destroy their memory and put them in a vegetative state.
"It was just the responsible, right thing to do," she said of the donation she and husband, Stephen, made to the University of Michigan. "The idea of being able to help (researchers) get just a little bit closer to a cure is a good feeling."
Kendrick's story highlights a second frontier in embryonic stem cell science at U-M. Six years after voters approved the creation of such lines, researchers have refined the processes for them — perfecting the temperature, oxygen levels, timing and the protein cocktails that make them grow.
Researchers at University of Michigan say they've "differentiated" human embryonic stem cells into heart and nerve cells to study how diseasetakes hild in the human body. Dr. Gary Smith explains. Robin Erb/Detroit Free Press
In just under three years, the National Institutes of Health has approved two dozen embryonic stem cell lines at U-M — a sizable chunk of the 303 lines shared in federally funded research across the nation.
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Second frontier unfolds in U-M stem cell work
Other contributers include Harvard University and Cedars-Sinai Medical Center in Los Angeles.
Now, researchers have begun to coax those established stem cell lines into specialized cells where the progression of disease can be studied on a day-to-day, even hourly basis. In the case of the Kendricks' donation, scientists have coaxed the stem cell line into neural cells to study adrenoleukodystrophy, the neurodegenerative disease that runs in Brooke Kendrick's family.
The Kendricks' donation is one of the first successes of researchers' effort to reach out to families through advocacy groups. Knowing that young couples who may carry hereditary diseases often go through in vitro fertilization to avoid continuing the disease in their children, they want members to know their need for donated embryos.
In all, the Kendricks' first successful round of IVF yielded 12 embryos. Nine carried genetic mutations.
One of the viable embryos eventually become son Gus, a boy who loves mashed potatoes, endless hours with his book about five adventurous turtles and all things trains. The Kendricks are planning his first birthday party for next month — something fun, said Brooke Kendrick.
Stephen and Brooke Kendrick with their son, Gus, who was conceived through in vitro fertilization. The Kendricks are expecting a second child, also conceived through IVF. If the couple ends up with more embryos they won’t use, they plan to donate those as well, Brooke Kendrick said.(Photo: Familiy photo)
"It took us a while to get him, we want to celebrate," she said.
Now, they're expecting a second child — this from a second round of IVF.
"I want to have a big family," said Kendrick, one of five siblings. If the couple ends up with more embryos they won't use, those, too, will be donated, she said.
They are the kinds of donations that can't be measured in dollar signs, said Gary Smith, who leads the U-M efforts to derive stem cell lines.
He called the Kendrick donation a gift that "will last forever, will be distributed worldwide (and) has the potential to foster discoveries, preventions and treatments."
A mysterious limp
The story of the embryonic stem cell line known as UM112-1 PGD began more than 10 years ago with Brooke Kendrick's older brother, Jeff Smith, who, like his sister, grew up in New Jersey.
At 29, Smith had always been active and healthy — "all kinds of sports, running," the father of two said. Then one day he got out of bed with a limp. There was no reason for it.
Kendrick was finishing up her senior year at U-M, where she was also swimming for the Wolverines.
"I remember him going to all these doctors. They thought it was going to be an old sports injury," she said.
The limp got worse. There were orthopedic doctors and neurologists, tests and surgeries. Two years later, a specialist explained ALD.
Jeff Smith learned he might end up in a wheelchair, but he's lucky.
Because the disease developed in Smith only after he was an adult, it most likely won't progress much further. When the disease develops in boys, it's quickly fatal.
That was grim news for Kendrick.
The gene is carried through women, which meant any children the Kendricks conceived would be in danger.
"It was really hard for her," Smith recalled. "I remember her saying, 'I'll never be able to have my own children.' "
As it turned out, the Kendricks learned that by conceiving through in vitro fertilization, they could have any embryos tested to make sure their children didn't carry the disease.
Early in 2013, the fertility clinic near their New Jersey home called: Nine of their embryos carried some kind of genetic misprint, but at least a couple were viable for her to become pregnant.
It was about that time they heard from David Cry, a man in Louisiana who knew the disease all too well.
Perfect timing
David Cry leads the national ALD Association.
Starting in 2010, Cry watched as his stepson's memory was slowly erased. Logan was 12 when he was diagnosed with ALD. As Logan's little brother grew smarter and stronger and more capable, Logan's abilities faded — so swiftly he probably never knew anything was wrong.
He simply began forgetting things until the point he would get lost without even understanding he was lost.
Eventually, the teen didn't recognize his parents. He lost the ability to see and hear.
"Seeing a 13-year-old with dementia is something you never forget," David Cry said.
Cry, whose stepson died just short of age 15, has made it his life's work to raise awareness about ALD and to make friendships with the researchers studying it around the world.
Cry had been contacted by U-M researchers who had been reaching out to advocacy groups who represent families stricken with genetic diseases.
Cry also knew of the Kendricks through Brooke Kendrick's brother. She was hooked.
Kendrick had loved her years at U-M — classes, football Saturdays and restaurants that were packed with classmates and friends.
"I called David back and said 'We have some embryos.' The timing was perfect," she said.
Seeking answers
By the end of 2013, Gary Smith's lab had derived a stem cell line from one of the Kendrick embryos. In September, it was approved by the NIH.
And in the past few months, researchers have teased some of the Kendrick donation into neural cells.
U-M's Dr. John Fink, a longtime neurologist, remembers the hope raised in the '90s when scientists homed in on the mutation of the gene ABCD1 that was linked to the disease.
But then what?
"How does the mutation lead to disease? We don't know. How do we stop it? We don't know."
Fink and others hope that Smith's stem cell lines might offer a clue or two of what happens between the genetic misfire and the development of the disease.
"We don't know how close we are" to treatment, said Fink. "Are we a paper-thin slice away? Or are we a decade away? We don't know. We only know that if we stop working on it, we'll never get there."
Kendrick knows the stem cell line might help. Even if it doesn't, the science is astonishing, she said.
"The whole process is amazing," she said. "This is something you'd never even think about just a few years ago."
Contact Robin Erb: [email protected] or 313-222-2708. Follow her on Twitter @Freephealth.
What is Adrenoleukodystrophy?
Adrenoleukodystrophy, or ALD, is a deadly genetic neurological disorder affecting 1 in every 17,900 boys. Symptoms usually begin between ages 4 and 10, as the myelin sheath — an insulating membrane around nerve cells in the brain — breaks down. Nerve cells are destroyed.
Symptoms are visual disturbances, failing coordination, seizures, difficulty swallowing, deafness, fatigue, vomiting and dementia. Boys are usually in a vegetative state within two years after diagnosis.
If symptoms are delayed until adulthood, the disease is known as adrenomyeloneuropathy(AMN). It most commonly affects only the spinal column, resulting in difficulty with walking, as well as bladder and bowel control.
Women carry the disease but men are more severely affected. The disease was the focus of a 1992 movie, Lorenzo's Oil, in which the parents (played by Nick Nolte and Susan Sarandon) of a boy with ALD search for a cure.
For more information, go to www.aldfoundation.org, e-mail [email protected], or call 985-718-4728.
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