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A Few Clouds
Scientists testing cure for rare syndrome on disabled kids
MEQUON -- It's a lottery you never heard about: two dozen disabled children chosen out of hundreds who applied for a human drug experiment to test a potential cure that could wake them up and lead to advances in treating autism, Alzheimer's and Lou Gehrig's disease.
The children all have a rare disorder called Angelman Syndrome, characterized by a happy demeanor, frequent laughter, jerky movements and lack of speech.
The frustrations of raising children with Angelman Syndrome are never ending.
"It's human. You're gonna wear yourself out once in a while, and then you're going to have a meltdown," described Patty Meller-Radke, mother of 20-year-old Nathan, diagnosed with Angelman as a toddler. "Hopefully you have a strong community."
"They have problems at night that can arise that can make your mornings unique. Diapers can come off and what have you," added Jeff Mears, father of 11-year-old Colton, also diagnosed with Angelman as a toddler.
The rare disorder inhibits the mind from progressing much past the mentality of a two-year-old, and severely delays their physical development. Many do not walk until they are more than five years old, if at all.
But scientists are evaluating a cure that could change all that.
"There is hope out there," insists Patty.
Those afflicted with Angelman generally cannot talk at all and wear diapers all their life; they also cannot eat, bathe or get dressed on their own.
Like a two-year-old, Angelman kids are curious and some put dangerous things in their mouth.
Parents often need to childproof their home for life against a growing child who continues to get bigger and stronger.
Nathan is one of many with Angelman who lost the ability to walk as he became an adult. He needs ongoing therapy sessions just to practice moving from his bed or bathtub to his wheelchair.
"We've taught him with different exercises to help him pivot his body, him to hold her and her to hold him in the right place so it can be a safe transfer," explained Anne Frazier, therapist with Physical Enhancement Services in Port Washington. She visits Nathan once a month to help him and his mother.
"My future was already decided when I started doing this on my own. I had hopes and dreams all my life, and they're just changed," said Jeff.
Beyond the day to day struggles that Nathan and Colton and their families face is the potential promise of a cure from scientists testing a drug that has successfully eliminated the condition in Angelman mice.
Parents are eagerly lining up their children to be part of the human experiment.
"Without hesitation," offers Patty when asked if she wanted Nathan to be in the study. "He deserves that. He deserves a chance."
She says Nathan has taught her patience and "makes me a better person."
So far, the studies have been restricted to children, so Nathan is not eligible.
"He was signed up for it," noted Jeff about Colton. "I want him to be able to express himself better."
Colton was not among those chosen in the lottery.
"Experimentation scared me until I started reading about the medicine it was. This medicine has been around a while."
Any treatment potentially poses a grave risk to these Angels (as kids with Angelman Syndrome are called) because they have so many health problems -- from regular seizures to scoliosis to difficulty sleeping more than a few hours.
Many are already taking multiple medications for those symptoms.
"We live on a budget. And sometimes we don't make ends meet, and sometimes we do," described Patty from her small Mequon home.
"My life changed when I found out I had a disabled child," recalled Jeff.
The disorder is named after Dr. Harry Angelman, who first noticed common symptoms among several disabled children in 1965.
His published findings were largely ignored for more than 20 years, until another physician discovered these children all had one specific damaged chromosome.
In the late '90s, the mutated gene was isolated.
Angelman's impact is complicated and debilitating for the kids -- as well as for their parents and siblings -- yet its cause is so simple: Scientists know that the damaged Angelman gene creates a specific biochemical imbalance in the brain.
Researchers say these Angel babies developed normally and have everything needed to function like others their age, if doctors could adjust the abnormal chemicals in the brain affected by the one gene.
That's why they believe a cure is within reach.
Dr. Edwin Weeber is a professor at the University Of South Florida College Of Medicine leading the human clinical trials.
"It is more likely that we would have a profound effect with a particular therapeutic" on a disease caused by one gene than a disorder with more complex origins like autism.
"This is what drives us. This is what we're hoping for," says Dr. Weeber.
Last year scientists reported they cured the disease in mice with the drug minocycline, 47 years after Dr. Angelman first used the term "puppet children" to describe several disabled kids with common symptoms.
"We're still trying to understand those mechanisms happening -- how minocycline can make neurons communicate better," explained Dr. Weeber.
That's why he quickly moved to test it on kids, despite the risks.
"These children are very fragile. And doing a clinical trial with any drug on these children is very nerve-wracking," admitted Dr. Weeber.
Despite the potential dangers, more than 200 parents signed up.
The results have implications beyond the estimated 400,000 Angelman Syndrome cases in the world, because more common disorders like Alzheimer's and autism affect the brain in similar ways even though they are not tied to a single gene mutation.
"Minocycline is being used to treat a number of disorders. It's in clinical trials for everything from Fragile X to ALS, and some think it may be useful for Alzheimer's disease," noted Dr. Weeber. "If we can understand Angelman, we can work toward understanding true autism, where multiple genes are involved."
Dr. Weeber has not issued the results, but he revealed to CBS 58 that the minocycline did not cure Angelman in kids as it did in mice.
He said it did have enough positive effects that an expanded trial involving a couple hundred kids should happen later this year.
"We're hopeful it will be useful as the first real therapeutic for Angelman Syndrome," he enthused. "We're hoping those small gains lead to larger and larger gains later on."
But more studies are needed to achieve such gains, and funding for a rare disorder is not as plentiful as funding for common conditions like autism.
Such studies have been paid for primarily by the Angel families themselves, who have stepped up to create foundations and fundraisers to spread awareness and raise money.
"We're grateful for them to give us the money to do this very innovative clinical trial," said Dr. Weeber.
Parents say they try to spread awareness every time they go out with their Angel child, and they encourage anyone to ask questions about their child's disability any time.
"Most of the time, they don't know how to approach. So I'm trying to help teach them -- don't be afraid. Just come up and talk," said Jeff.
"I can go a lot of places with Nathan, 'cause he is very social as Angelman usually are," says Patty. "I can go wherever, and Nathan will have friends. 'Hi Nathan. How are you?' and I won't even know the person. He touches people, and you don't even know it."
Patty says she will have a harder and harder time getting out with Nathan and caring for him as he gets older and heavier.
She says he's now 6'1" and 192 pounds. But she says she will keep him at home as long as she can before putting him in a group home.
"I love Nathan no matter what," she says. "He's the only 20-year-old who can make me laugh, and he loves you unconditionally."
Jeff says he expects to care for Colton his entire life, unless a cure is found. He is determined to make progress and says he has taught Colton potty training, how to use technology to answer questions and even how to golf.
"He gets excited. He knows the ball's got to go in the hole, and he loves that," Jeff exclaims. "Colton wants to be just like us."
Angelman parents believe he may achieve that goal someday, thanks to scientists like Dr. Weeber, who expects to release the results of the minocycline human clinical trials this summer after concluding the study in eight short months, compared to years and years of most clinical trials.
The Foundation for Angelman Syndrome Therapeutics (FAST) has achieved international attention thanks to the actor Colin Farrell, whose son has Angelman Syndrome. For more information on FAST, follow the link: http://www.cureangelman.org/default.html.
The Angelman Syndrome Foundation is organizing a national fundraiser in 30 different locations simultaneously next month, including walks in Illinois, Ohio, Michigan, Minnesota, Missouri and Kansas. The closest 2013 National Walk location to Milwaukee will kick off at 10 a.m. on May 18, 2013, at the Word of Life Lutheran Church in Naperville, Illinois. For more information on this event, follow the link: http://secure.angelman.org/index.cfm?fuseaction=donorDrive.event&eventID=550.
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