In Depth: Angelman syndrome - KMSP-TV

In Depth: Angelman syndrome

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Kids with Angelman Syndrome have developmental challenges, speech problems and seizures. Despite the difficulties, they continue to smile -- and that is the remarkable thing about angel children.

Two-year old Maddy Jacobsen suffers from the disorder, but you would never know it after seeing her play in her backyard with continuous laughter and smiles.

"There is a lot of joy in having Maddy. There's a lot of joy," said her mother, Gina Jacobsen. "You hear that laugh and you just know that there is an angel somewhere in the vicinity."

"One of the things that is common among all angels is that extremely happy, loving affection," added Maddy's father, Kris.

Angelman syndrome is named for the man who discovered the genetic disorder, which affects 1 in 15,000 births. There are different kinds of Angelman syndrome, which is on the autism spectrum.

"These kids are affected by physical and developmental delays, debilitating seizures, gait and balance issues, a lot of them have sensory integration issues. They don't perceive their world as we do," said Gina Jacobsen.

Maddy was between three and six months old when they began to notice she was lagging behind. She was not sitting up and not focusing.

Unlike other forms of autism, Angelman syndrome can be diagnosed through genetic testing. That's how the family discovered part of Maddy's 15th chromosome was missing.

Maddy talks in hugs, which can be both wonderful and very worrisome.

"My greatest fear is at some point, she is trapped in there," said Kris Jacobsen. "Then -- you know, she will be able to see and not be able to do."

"That is both of our fears -- because she can't speak and never will speak (she understands more than we think she does) -- that she won't be able to communicate that she's hurt or scared," said Gina Jacobsen.

Maddy goes to speech and physical therapy twice a week. She just started using the word "mom".

The toddler just began walking in October. Her natural gait is wide with arms flung wide like wings, but electrical stimulation helps her put her feet closer together and arms closer to her side. Walking is a lot of work for Maddy, but her mother doesn't expect her daughter to do any less.

"She has this inner drive and inner strength that just is very inspiring," said Gina Jacobsen.

Maddy is lucky to have such a strong family. Her parents say finding other parents of Angel kids has really helped them. They did that through the Angelman Foundation. The group is having an awareness and fundraising walk Saturday in Lakeville. Event information can be found below.

Where: Valley Lake Park

16050 Garrett Path
Lakeville, MN 55044

When: 9 a.m.

Contact: Send an e-mail to Gina Jacobsen

 

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