Mom of girl with rare disorder aims to raise awareness on International Angelman Syndrome Day

BRUNSWICK COUNTY, NC (WECT) - One day after her 3rd birthday, Ashlynn Freeman was diagnosed with Angelman syndrome.

Angelman syndrome is a rare neuro-genetic disorder that only affects one in 15,000 children.

According to the official Angelman syndrome foundation, the disorder is often misdiagnosed as cerebral palsy or autism.

"There are a lot of children out there that are misdiagnosed because the medical physician may not be aware of Angelman syndrome," Freeman said. "And so they only test for the ones that are most common which is autism, down syndrome and so on."

Signs of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders.

As far as her parents know, Ashlynn is the only child in our viewing area who has Angelman syndrome.

Dorothy Freeman and her husband started fostering Ashlynn when she was just two years old.

Freeman said that they thought Ashlynn was actually much younger than two because she could not walk, crawl, sit up on her own or even roll over.

Freeman and her husband worked with physical therapists and Ashlynn quickly became stronger and learned how to walk.

Still, the Freeman's felt something was off with Ashlynn.

"Something wasn't right," Freeman said. "Something was off."

They took her to her pediatrician, who coincidentally completed his internship in an Angelman clinic and recognized that she could very possibly have the disorder.

The test results came back, and they determined Ashlynn had Angelman syndrome.

"[The pediatrician] told me and I was like, 'well, I guess if you've got to have one, that's the best one to have'," Freeman said.

People with Angelman syndrome are expected to live a full life, however they will need lots of care.

"She has been heaven sent ever since," Freeman said. "Her laugh is infectious. She smiles all the time. She is such a joy. I call her my sour patch because she has her moments, but what child doesn't."

Having Angelman syndrome, Ashlynn is very prone to seizures. Freeman said she has had many different types of seizures throughout her 7 years.

"Her seizures run from epileptic seizures to drop seizures," Freeman said. "Every type of seizure that you can have, baby girl has had it."

Freeman said the tendency of people with Angelman syndrome is to be happy, even when they are not.

"Even when they're sad, even when they're hurting, they will still smile at you, they will still laugh. They do inappropriate laughter."

As of right now there is no known cure for Angelman syndrome, however Freeman said the medical field may be close to finding one.

"To think of her in a different way is really hard as far as who Ashlynn is because Ashlynn is so much of Angelmans," Freeman said. "With her happiness and her demeanor in general that changing that might be a little heartbreaking."

If they were to find a cure, Freeman said she would like it for Ashlynn so she could have a better life however she wouldn't want it to change who Ashlynn is.

"As far as changing who Ashlynn is," Freeman said. "I wouldn't want to change anything about her. She's perfect just the way she is."

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