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Angelman Syndrome: There is hope for child with rare condition

By Mireya Garcia, Telemundo Anchor/NC13 Reporter, Twitter: @Mireya_G, m.garcia@krdo.com
Published On: Mar 21 2013 06:59:16 PM CDT
Updated On: Mar 22 2013 06:21:06 PM CDT

Child has rare genetic syndrome that could cause deadly seizures.

CASTLE ROCK, Colo. -

Anna Stone, 3, suffers from a rare condition known as Angelman Syndrome. It’s a rare genetic disorder where sufferers are missing their 15th chromosome, but there is hope for a cure.

Anna’s random genetic disorder makes life very hard.

She uses a feeding tube to eat and one of the symptoms is potentially deadly seizures.

“That is the scary part for us and I think for most families because that is the symptom that is most difficult to control,” said Melissa Stone, Anna’s mother.

Her daughter may never talk or live independently, but she treasures her.

“Angelman kiddos are typically very happy despite all the challenges they go through.  they are typically very happy and social,” said Melissa, as her daughter laughed and played with an computer tablet.

There is hope for Anna,, and the  1 in 15,000 kids with Angelman Syndrome. FDA approved testing has reversed symptoms in mice, and human trials have started. The Stone family hopes Anna can be part of the second round of testing.

“You don't want to get your hopes up. In our case Anna is going to be with us forever, and that is fine by us, but if there is something we can do give her a more independent life, we are going to do that,” said Melissa.

The Stone's don't know what the future holds, but they are prepared for anything.

“For Anna, she doesn't know it is Angelman syndrome. It is just life. That is how we treat it. We find ways to adapt,” said Melissa.

Angelman syndrome is often misdiagnosed as Autism or Cerebral Palsy.It requires genetic testing to determine if a child's 15th chromosome is missing.

The Mom’s Rock 5k in Castle Rock will give all of its proceeds to FAST, The Foundation for Angelman Syndrome Therapeutics to help support further medical testing. The race will be on Saturday, May 11. If you have questions, you can e-mail MomsRock5kforFAST@gmail.com.

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