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Angelman Syndrome

Updated: Thursday, August 8 2013, 03:29 PM EDT
Researchers at Cincinnati Children's Hospital are one of just seven sites in the country now testing a common medication for a rare genetic disorder for which doctors have no cure.

Medical reporter Liz Bonis tells us about this potential breakthrough in today's medical edge.

It's not surprising that you find yourself smiling when you get a chance to hang out with little Kendall Amos. She is now four years old.

Her happy disposition is just is part of what's called Angelman's Syndrome.It is diagnosed in about one out of every twenty-thousand children.

"It is associated with intellectual disabilities, seizures, movement and balance difficulties and complex communication needs," says Dr. Logan Wink.

Kendall’s parents, Marcia Brandstadt and Jae Amos, thought everything was okay initially at birth.

"But when she was about a year old, we took her to the pediatrician and she did not meet any of the milestones checks that they do at the doctor’s appointments," says mother Marcia Brandstadt.

By the time they were told it was Angelman,

"My only question was will she be okay?"

Kendall is clearly now more than okay.

She is also helping to pave the way to help others with this condition, by participating in a breakthrough study for it.

Doctor Logan Wink, a child psychiatrist, is the principal investigator for it.

"This is a study of a medication called Levadopa that has been used since the 1950 to treat Parkinson's Disease," says Dr. Wink.

The medication may help treat balance problems and tremors often seen in Angelman Syndrome.

Both Kendalls parents and her medical team say really this is a story all about hope. While this medication and this trial will focus on certain symptoms, the idea is this would also give them a solution they have never had before.

"To date we have no targeted treatments for Angelman Syndrome so should this study be positive and show benefit this would be our first major discovery for treatments of symptoms associated specifically with Angelman Syndrome."

It's just another way little Kendall continues to add happiness to the lives of others.

This trial is still open to those with this syndrome and other movement disorders.
For details you can call 513-803-3582.
Angelman Syndrome


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